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Entry version 170 (31 Jul 2019)
Sequence version 3 (01 Apr 2015)
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Protein

Transient receptor potential cation channel subfamily V member 6

Gene

TRPV6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Calcium selective cation channel that mediates Ca2+ uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11278579, PubMed:11248124 PubMed:15184369, PubMed:23612980, PubMed:29258289). Important for normal Ca2+ ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed:15184369). Inactivation includes both a rapid Ca2+-dependent and a slower Ca2+-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg2+ in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating.By similarity7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi582Calcium; shared with neighboring subunits1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Calmodulin-binding, Ion channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3295583 TRP channels

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9H1D0

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.4.2.11 the transient receptor potential ca(2+) channel (trp-cc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transient receptor potential cation channel subfamily V member 6
Short name:
TrpV6
Alternative name(s):
CaT-like1 Publication
Short name:
CaT-L1 Publication
Calcium transport protein 11 Publication
Short name:
CaT11 Publication
Epithelial calcium channel 2
Short name:
ECaC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TRPV6
Synonyms:ECAC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14006 TRPV6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606680 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H1D0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 367Cytoplasmic1 PublicationAdd BLAST367
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei368 – 388Helical1 PublicationAdd BLAST21
Topological domaini389 – 425Extracellular1 PublicationAdd BLAST37
Transmembranei426 – 448Helical1 PublicationAdd BLAST23
Topological domaini449 – 463Cytoplasmic1 PublicationAdd BLAST15
Transmembranei464 – 483Helical1 PublicationAdd BLAST20
Topological domaini484 – 489Extracellular1 Publication6
Transmembranei490 – 509Helical1 PublicationAdd BLAST20
Topological domaini510 – 529Cytoplasmic1 PublicationAdd BLAST20
Transmembranei530 – 552Helical1 PublicationAdd BLAST23
Topological domaini553 – 565Extracellular1 PublicationAdd BLAST13
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei566 – 585Pore-forming1 PublicationAdd BLAST20
Topological domaini586 – 596Extracellular1 PublicationAdd BLAST11
Transmembranei597 – 617Helical1 PublicationAdd BLAST21
Topological domaini618 – 765Cytoplasmic1 PublicationAdd BLAST148

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hyperparathyroidism, transient neonatal (HRPTTN)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081866212C → Y in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 1 Publication1
Natural variantiVAR_081867223I → T in HRPTTN; decreased localization at the plasma membrane; no change in calcium ion import across plasma membrane. 2 Publications1
Natural variantiVAR_081868425R → Q in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 1 Publication1
Natural variantiVAR_081869428G → R in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 2 Publications1
Natural variantiVAR_081870451G → E in HRPTTN; induces cell death most likely through intracellular calcium overload; increased calcium ion import across plasma membrane; may lack intracellular calcium-dependent inactivation. 1 Publication1
Natural variantiVAR_081871483R → W in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi510R → E: Decreases channel opening, and thereby decreases channel activity. 1 Publication1
Mutagenesisi523Q → A: Decreases channel activity. 1 Publication1
Mutagenesisi582D → A: Abolishes channel activity. 1 Publication1
Mutagenesisi606A → T: Decreases channel opening, and thereby strongly decreases channel activity. 1 Publication1
Mutagenesisi742T → A: Abolishes phosphorylation by PKC/PRKCA, achieves faster channel inactivation and no effect on binding to calmodulin. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55503
MIMi618188 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165125

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37832

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1628465

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TRPV6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62901469

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002153541 – 765Transient receptor potential cation channel subfamily V member 6Add BLAST765

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei201Phosphotyrosine; by SRCBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi398N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei742Phosphothreonine; by PKC/PRKCA1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.By similarity1 Publication
Phosphorylation at Tyr-201 by SRC leads to an increased calcium influx through the channel. Probably dephosphorylated at this site by PTPN1 (By similarity). Phosphorylation by PRKCA at the calmodulin binding site delays channel inactivation (PubMed:11248124).By similarity1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H1D0

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9H1D0

PeptideAtlas

More...
PeptideAtlasi
Q9H1D0

PRoteomics IDEntifications database

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PRIDEi
Q9H1D0

ProteomicsDB human proteome resource

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ProteomicsDBi
80400 [Q9H1D0-1]
80401 [Q9H1D0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H1D0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H1D0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed at high levels in the gastrointestinal tract, including esophagus, stomach, duodenum, jejunum, ileum and colon, and in pancreas, placenta, prostate and salivary gland. Expressed at moderate levels in liver, kidney and testis. Expressed in trophoblasts of placenta villus trees (at protein level)(PubMed:23612980). Expressed in locally advanced prostate cancer, metastatic and androgen-insensitive prostatic lesions but not detected in healthy prostate tissue and benign prostatic hyperplasia.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000165125 Expressed in 183 organ(s), highest expression level in body of pancreas

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H1D0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H1D0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA062864

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer (PubMed:29258289). Probably forms also heterotetramers with TRPV5.

Interacts with TRPV5.

Interacts with S100A10 and probably with the ANAX2-S100A10 heterotetramer. The interaction with S100A10 is required for the trafficking to the plasma membrane.

Interacts with BSPRY (By similarity).

Interacts with TCAF1 and TCAF2 isoform 2 (PubMed:25559186).

Interacts with calmodulin (PubMed:11248124).

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PTPN1P180316EBI-7198335,EBI-968788

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120683, 16 interactors

Protein interaction database and analysis system

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IntActi
Q9H1D0, 3 interactors

Molecular INTeraction database

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MINTi
Q9H1D0

STRING: functional protein association networks

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STRINGi
9606.ENSP00000352358

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9H1D0

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H1D0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati84 – 114ANK 1Add BLAST31
Repeati118 – 147ANK 2Add BLAST30
Repeati156 – 185ANK 3Add BLAST30
Repeati202 – 231ANK 4Add BLAST30
Repeati235 – 277ANK 5Add BLAST43
Repeati279 – 308ANK 5Add BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni133 – 143Interaction with calmodulinBy similarityAdd BLAST11
Regioni638 – 642Interaction with S100A10By similarity5
Regioni731 – 751Interaction with calmodulin2 PublicationsAdd BLAST21

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi581 – 585Selectivity filter1 Publication5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3676 Eukaryota
ENOG4110DG4 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156687

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H1D0

KEGG Orthology (KO)

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KOi
K04975

Database of Orthologous Groups

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OrthoDBi
693004at2759

TreeFam database of animal gene trees

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TreeFami
TF314711

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.20, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR005821 Ion_trans_dom
IPR024862 TRPV
IPR008344 TRPV5/TRPV6
IPR008345 TRPV6_channel

The PANTHER Classification System

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PANTHERi
PTHR10582 PTHR10582, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00023 Ank, 1 hit
PF12796 Ank_2, 1 hit
PF00520 Ion_trans, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01415 ANKYRIN
PR01765 ECACCHANNEL
PR01766 ECACCHANNEL1

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H1D0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGPLQGDGGP ALGGADVAPR LSPVRVWPRP QAPKEPALHP MGLSLPKEKG
60 70 80 90 100
LILCLWSKFC RWFQRRESWA QSRDEQNLLQ QKRIWESPLL LAAKDNDVQA
110 120 130 140 150
LNKLLKYEDC KVHQRGAMGE TALHIAALYD NLEAAMVLME AAPELVFEPM
160 170 180 190 200
TSELYEGQTA LHIAVVNQNM NLVRALLARR ASVSARATGT AFRRSPCNLI
210 220 230 240 250
YFGEHPLSFA ACVNSEEIVR LLIEHGADIR AQDSLGNTVL HILILQPNKT
260 270 280 290 300
FACQMYNLLL SYDRHGDHLQ PLDLVPNHQG LTPFKLAGVE GNTVMFQHLM
310 320 330 340 350
QKRKHTQWTY GPLTSTLYDL TEIDSSGDEQ SLLELIITTK KREARQILDQ
360 370 380 390 400
TPVKELVSLK WKRYGRPYFC MLGAIYLLYI ICFTMCCIYR PLKPRTNNRT
410 420 430 440 450
SPRDNTLLQQ KLLQEAYMTP KDDIRLVGEL VTVIGAIIIL LVEVPDIFRM
460 470 480 490 500
GVTRFFGQTI LGGPFHVLII TYAFMVLVTM VMRLISASGE VVPMSFALVL
510 520 530 540 550
GWCNVMYFAR GFQMLGPFTI MIQKMIFGDL MRFCWLMAVV ILGFASAFYI
560 570 580 590 600
IFQTEDPEEL GHFYDYPMAL FSTFELFLTI IDGPANYNVD LPFMYSITYA
610 620 630 640 650
AFAIIATLLM LNLLIAMMGD THWRVAHERD ELWRAQIVAT TVMLERKLPR
660 670 680 690 700
CLWPRSGICG REYGLGDRWF LRVEDRQDLN RQRIQRYAQA FHTRGSEDLD
710 720 730 740 750
KDSVEKLELG CPFSPHLSLP MPSVSRSTSR SSANWERLRQ GTLRRDLRGI
760
INRGLEDGES WEYQI
Length:765
Mass (Da):87,286
Last modified:April 1, 2015 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i626D515E12112546
GO
Isoform 2 (identifier: Q9H1D0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-232: Missing.

Show »
Length:597
Mass (Da):68,446
Checksum:i6EB713BE033FD580
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1X7SBT1A0A1X7SBT1_HUMAN
Transient receptor potential cation...
TRPV6
765Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JMR5A0A0G2JMR5_HUMAN
Transient receptor potential cation...
TRPV6
725Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J9W0C9J9W0_HUMAN
Transient receptor potential cation...
TRPV6
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YXP5A0A0J9YXP5_HUMAN
Transient receptor potential cation...
TRPV6
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JHY1C9JHY1_HUMAN
Transient receptor potential cation...
TRPV6
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YW11A0A0J9YW11_HUMAN
Transient receptor potential cation...
TRPV6
20Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAK50426 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication
The sequence AAL40230 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication
The sequence AAM00356 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication
The sequence AAO38052 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication
The sequence BAF84396 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication
The sequence CAC20416 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication
The sequence CAC20417 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication
The sequence CAD32311 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.1 Publication

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti77N → D in AAG41951 (PubMed:11097838).Curated1
Sequence conflicti114Q → H in AAG41951 (PubMed:11097838).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08186518A → S Polymorphism; no effect on localization at the plasma membrane; no change in calcium ion import across plasma membrane. 1 Publication1
Natural variantiVAR_022251197C → R2 PublicationsCorresponds to variant dbSNP:rs4987657Ensembl.1
Natural variantiVAR_081866212C → Y in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 1 Publication1
Natural variantiVAR_081867223I → T in HRPTTN; decreased localization at the plasma membrane; no change in calcium ion import across plasma membrane. 2 Publications1
Natural variantiVAR_052393399R → Q. Corresponds to variant dbSNP:rs4987665Ensembl.1
Natural variantiVAR_022252418M → V2 PublicationsCorresponds to variant dbSNP:rs4987667Ensembl.1
Natural variantiVAR_081868425R → Q in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 1 Publication1
Natural variantiVAR_081869428G → R in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 2 Publications1
Natural variantiVAR_081870451G → E in HRPTTN; induces cell death most likely through intracellular calcium overload; increased calcium ion import across plasma membrane; may lack intracellular calcium-dependent inactivation. 1 Publication1
Natural variantiVAR_081871483R → W in HRPTTN; decreased localization at the plasma membrane; loss of calcium ion import across plasma membrane. 1 Publication1
Natural variantiVAR_022253721M → T2 PublicationsCorresponds to variant dbSNP:rs4987682Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01343965 – 232Missing in isoform 2. 1 PublicationAdd BLAST168

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF304463 mRNA Translation: AAG41951.1
AF365927 mRNA Translation: AAL40230.1 Sequence problems.
AF365928 mRNA Translation: AAM00356.1 Sequence problems.
AH010730 Genomic DNA Translation: AAK50426.1 Sequence problems.
AJ243500 mRNA Translation: CAC20416.2 Sequence problems.
AJ243501 mRNA Translation: CAC20417.2 Sequence problems.
AJ487964 mRNA Translation: CAD32311.1 Sequence problems.
AY225461 Genomic DNA Translation: AAO38052.1 Sequence problems.
AK291707 mRNA Translation: BAF84396.1 Sequence problems.
CH236959 Genomic DNA Translation: EAL23776.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5874.2 [Q9H1D0-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC7531

NCBI Reference Sequences

More...
RefSeqi
NP_061116.5, NM_018646.5 [Q9H1D0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000638686; ENSP00000492723; ENSG00000165125 [Q9H1D0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55503

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55503

UCSC genome browser

More...
UCSCi
uc003wbx.4 human [Q9H1D0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

TRPV6 entry

SeattleSNPs
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF304463 mRNA Translation: AAG41951.1
AF365927 mRNA Translation: AAL40230.1 Sequence problems.
AF365928 mRNA Translation: AAM00356.1 Sequence problems.
AH010730 Genomic DNA Translation: AAK50426.1 Sequence problems.
AJ243500 mRNA Translation: CAC20416.2 Sequence problems.
AJ243501 mRNA Translation: CAC20417.2 Sequence problems.
AJ487964 mRNA Translation: CAD32311.1 Sequence problems.
AY225461 Genomic DNA Translation: AAO38052.1 Sequence problems.
AK291707 mRNA Translation: BAF84396.1 Sequence problems.
CH236959 Genomic DNA Translation: EAL23776.1
CCDSiCCDS5874.2 [Q9H1D0-1]
PIRiJC7531
RefSeqiNP_061116.5, NM_018646.5 [Q9H1D0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6BO8electron microscopy3.60A/B/C/D41-765[»]
6BO9electron microscopy4.00A/B/C/D41-765[»]
6BOAelectron microscopy4.20A/B/C/D41-765[»]
6D7Selectron microscopy4.34A/B/C/D41-765[»]
6D7Telectron microscopy4.44A/B/C/D41-765[»]
6E2Felectron microscopy3.90A/B/C/D41-765[»]
SMRiQ9H1D0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120683, 16 interactors
IntActiQ9H1D0, 3 interactors
MINTiQ9H1D0
STRINGi9606.ENSP00000352358

Chemistry databases

BindingDBiQ9H1D0
ChEMBLiCHEMBL1628465

Protein family/group databases

TCDBi1.A.4.2.11 the transient receptor potential ca(2+) channel (trp-cc) family

PTM databases

iPTMnetiQ9H1D0
PhosphoSitePlusiQ9H1D0

Polymorphism and mutation databases

BioMutaiTRPV6
DMDMi62901469

Proteomic databases

jPOSTiQ9H1D0
PaxDbiQ9H1D0
PeptideAtlasiQ9H1D0
PRIDEiQ9H1D0
ProteomicsDBi80400 [Q9H1D0-1]
80401 [Q9H1D0-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55503
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000638686; ENSP00000492723; ENSG00000165125 [Q9H1D0-1]
GeneIDi55503
KEGGihsa:55503
UCSCiuc003wbx.4 human [Q9H1D0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55503
DisGeNETi55503

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TRPV6
HGNCiHGNC:14006 TRPV6
HPAiHPA062864
MIMi606680 gene
618188 phenotype
neXtProtiNX_Q9H1D0
OpenTargetsiENSG00000165125
PharmGKBiPA37832

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3676 Eukaryota
ENOG4110DG4 LUCA
GeneTreeiENSGT00940000156687
InParanoidiQ9H1D0
KOiK04975
OrthoDBi693004at2759
TreeFamiTF314711

Enzyme and pathway databases

ReactomeiR-HSA-3295583 TRP channels
SIGNORiQ9H1D0

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TRPV6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55503

Protein Ontology

More...
PROi
PR:Q9H1D0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165125 Expressed in 183 organ(s), highest expression level in body of pancreas
ExpressionAtlasiQ9H1D0 baseline and differential
GenevisibleiQ9H1D0 HS

Family and domain databases

Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR005821 Ion_trans_dom
IPR024862 TRPV
IPR008344 TRPV5/TRPV6
IPR008345 TRPV6_channel
PANTHERiPTHR10582 PTHR10582, 1 hit
PfamiView protein in Pfam
PF00023 Ank, 1 hit
PF12796 Ank_2, 1 hit
PF00520 Ion_trans, 1 hit
PRINTSiPR01415 ANKYRIN
PR01765 ECACCHANNEL
PR01766 ECACCHANNEL1
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTRPV6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H1D0
Secondary accession number(s): A4D2I8
, Q8TDL3, Q8WXR8, Q96LC5, Q9H1D1, Q9H296
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 1, 2015
Last modified: July 31, 2019
This is version 170 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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