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Entry version 147 (16 Oct 2019)
Sequence version 3 (04 Nov 2008)
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Protein

Enamelin

Gene

ENAM

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

Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.By similarity

<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

Biological processBiomineralization

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

<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:
Enamelin
<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:ENAM
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3344 ENAM

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606585 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NRM1

<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

Keywords - Cellular componenti

Extracellular matrix, Secreted

<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

Amelogenesis imperfecta 1B (AI1B)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI).
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_073665216S → L in AI1B and AI1C; decreased phosphorylation by FAM20C. 1 Publication1 PublicationCorresponds to variant dbSNP:rs867263935Ensembl.1
Amelogenesis imperfecta 1C (AI1C)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073665216S → L in AI1B and AI1C; decreased phosphorylation by FAM20C. 1 Publication1 PublicationCorresponds to variant dbSNP:rs867263935Ensembl.1

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>Mutagenesisi191S → A: Decreased phosphorylation by FAM20C. 1 Publication1

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
10117

MalaCards human disease database

More...
MalaCardsi
ENAM
MIMi104500 phenotype
204650 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000132464

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
100031 Hypoplastic amelogenesis imperfecta

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27781

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NRM1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ENAM

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212276506

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 39Sequence analysisAdd BLAST39
<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_000002117440 – 1142EnamelinAdd BLAST1103

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi114N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi126N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei191Phosphoserine1 Publication1
Modified residuei216Phosphoserine1 Publication1
Glycosylationi245N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi252N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi265N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi296N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi467N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi534N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi934N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1040N-linked (GlcNAc...) asparagineSequence analysis1

<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

Phosphorylated by FAM20C in vitro.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NRM1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NRM1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NRM1

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

More...
PaxDbi
Q9NRM1

PeptideAtlas

More...
PeptideAtlasi
Q9NRM1

PRoteomics IDEntifications database

More...
PRIDEi
Q9NRM1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82388

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NRM1

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

More...
PhosphoSitePlusi
Q9NRM1

<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 in tooth particularly in odontoblast, ameloblast and cementoblast.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000132464 Expressed in 87 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NRM1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NRM1 HS

<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%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
Q8IXL62EBI-11892601,EBI-7147442

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q9NRM1, 4 interactors

Molecular INTeraction database

More...
MINTi
Q9NRM1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379383

<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

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEBP Eukaryota
ENOG410YWPJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00440000037826

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112367

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NRM1

KEGG Orthology (KO)

More...
KOi
K23444

Identification of Orthologs from Complete Genome Data

More...
OMAi
FPQYQMP

Database of Orthologous Groups

More...
OrthoDBi
201332at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NRM1

TreeFam database of animal gene trees

More...
TreeFami
TF337278

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR015673 Enamelin

The PANTHER Classification System

More...
PANTHERi
PTHR16784 PTHR16784, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15362 Enamelin, 1 hit

<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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9NRM1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLVLRCRLGT SFPKLDNLVP KGKMKILLVF LGLLGNSVAM PMHMPRMPGF
60 70 80 90 100
SSKSEEMMRY NQFNFMNGPH MAHLGPFFGN GLPQQFPQYQ MPMWPQPPPN
110 120 130 140 150
TWHPRKSSAP KRHNKTDQTQ ETQKPNQTQS KKPPQKRPLK QPSHNQPQPE
160 170 180 190 200
EEAQPPQAFP PFGNGLFPYQ QPPWQIPQRL PPPGYGRPPI SNEEGGNPYF
210 220 230 240 250
GYFGYHGFGG RPPYYSEEMF EQDFEKPKEE DPPKAESPGT EPTANSTVTE
260 270 280 290 300
TNSTQPNPKG SQGGNDTSPT GNSTPGLNTG NNPPAQNGIG PLPAVNASGQ
310 320 330 340 350
GGPGSQIPWR PSQPNIRENH PYPNIRNFPS GRQWYFTGTV MGHRQNRPFY
360 370 380 390 400
RNQQVQRGPR WNFFAWERKQ VARPGNPVYH KAYPPTSRGN YPNYAGNPAN
410 420 430 440 450
LRRKPQGPNK HPVGTTVAPL GPKPGPVVRN EKIQNPKEKP LGPKEQIIVP
460 470 480 490 500
TKNPTSPWRN SQQYEVNKSN YKLPHSEGYM PVPNFNSVDQ HENSYYPRGD
510 520 530 540 550
SRKVPNSDGQ TQSQNLPKGI VLGSRRMPYE SETNQSELKH SSYQPAVYPE
560 570 580 590 600
EIPSPAKEHF PAGRNTWDHQ EISPPFKEDP GRQEEHLPHP SHGSRGSVFY
610 620 630 640 650
PEYNPYDPRE NSPYLRGNTW DERDDSPNTM GQKESPLYPI NTPDQKEIVP
660 670 680 690 700
YNEEDPVDPT GDEVFPGQNR WGEELSFKGG PTVRHYEGEQ YTSNQPKEYL
710 720 730 740 750
PYSLDNPSKP REDFYYSEFY PWSPDENFPS YNTASTMPPP IESRGYYVNN
760 770 780 790 800
AAGPEESTLF PSRNSWDHRI QAQGQRERRP YFNRNIWDQA THLQKAPARP
810 820 830 840 850
PDQKGNQPYY SNTPAGLQKN PIWHEGENLN YGMQITRMNS PEREHSSFPN
860 870 880 890 900
FIPPSYPSGQ KEAHLFHLSQ RGSCCAGSST GPKDNPLALQ DYTPSYGLAP
910 920 930 940 950
GENQDTSPLY TDGSHTKQTR DIISPTSILP GQRNSSEKRE SQNPFRDDVS
960 970 980 990 1000
TLRRNTPCSI KNQLGQKEIM PFPEASSLQS KNTPCLKNDL GGDGNNILEQ
1010 1020 1030 1040 1050
VFEDNQLNER TVDLTPEQLV IGTPDEGSNP EGIQSQVQEN ESERQQQRPS
1060 1070 1080 1090 1100
NILHLPCFGS KLAKHHSSTT GTPSSDGRQS PFDGDSITPT ENPNTLVELA
1110 1120 1130 1140
TEEQFKSINV DPLDADEHSP FEFLQRGTNV QDQVQDCLLL QA
Length:1,142
Mass (Da):128,785
Last modified:November 4, 2008 - 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:i28274A71BE947EB1
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITB9A0A3B3ITB9_HUMAN
Enamelin
ENAM
103Annotation 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>

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 conflicti284P → S in AAG43242 (Ref. 2) Curated1
Sequence conflicti286Q → R in AAG43242 (Ref. 2) Curated1
Sequence conflicti948D → G in AAG43242 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073665216S → L in AI1B and AI1C; decreased phosphorylation by FAM20C. 1 Publication1 PublicationCorresponds to variant dbSNP:rs867263935Ensembl.1
Natural variantiVAR_024311576F → L. Corresponds to variant dbSNP:rs2609428EnsemblClinVar.1
Natural variantiVAR_024312648I → T1 PublicationCorresponds to variant dbSNP:rs7671281EnsemblClinVar.1
Natural variantiVAR_020105724P → L. Corresponds to variant dbSNP:rs3796703Ensembl.1
Natural variantiVAR_024313763R → Q1 PublicationCorresponds to variant dbSNP:rs3796704EnsemblClinVar.1
Natural variantiVAR_047076767D → G. Corresponds to variant dbSNP:rs3796705Ensembl.1

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
EU482096 Genomic DNA Translation: ACA43029.1
AF125373 mRNA Translation: AAG43242.1
CH471057 Genomic DNA Translation: EAX05625.1
BC117308 mRNA Translation: AAI17309.1
BC117310 mRNA Translation: AAI17311.1
AF210247 mRNA Translation: AAF73847.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3544.2

NCBI Reference Sequences

More...
RefSeqi
NP_114095.2, NM_031889.2
XP_006714119.1, XM_006714056.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000396073; ENSP00000379383; ENSG00000132464

Database of genes from NCBI RefSeq genomes

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GeneIDi
10117

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10117

UCSC genome browser

More...
UCSCi
uc011caw.2 human

Keywords - Coding sequence diversityi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU482096 Genomic DNA Translation: ACA43029.1
AF125373 mRNA Translation: AAG43242.1
CH471057 Genomic DNA Translation: EAX05625.1
BC117308 mRNA Translation: AAI17309.1
BC117310 mRNA Translation: AAI17311.1
AF210247 mRNA Translation: AAF73847.1
CCDSiCCDS3544.2
RefSeqiNP_114095.2, NM_031889.2
XP_006714119.1, XM_006714056.3

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ9NRM1, 4 interactors
MINTiQ9NRM1
STRINGi9606.ENSP00000379383

PTM databases

iPTMnetiQ9NRM1
PhosphoSitePlusiQ9NRM1

Polymorphism and mutation databases

BioMutaiENAM
DMDMi212276506

Proteomic databases

EPDiQ9NRM1
jPOSTiQ9NRM1
MassIVEiQ9NRM1
PaxDbiQ9NRM1
PeptideAtlasiQ9NRM1
PRIDEiQ9NRM1
ProteomicsDBi82388

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10117

Genome annotation databases

EnsembliENST00000396073; ENSP00000379383; ENSG00000132464
GeneIDi10117
KEGGihsa:10117
UCSCiuc011caw.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10117
DisGeNETi10117

GeneCards: human genes, protein and diseases

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GeneCardsi
ENAM
HGNCiHGNC:3344 ENAM
MalaCardsiENAM
MIMi104500 phenotype
204650 phenotype
606585 gene
neXtProtiNX_Q9NRM1
OpenTargetsiENSG00000132464
Orphaneti100031 Hypoplastic amelogenesis imperfecta
PharmGKBiPA27781

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IEBP Eukaryota
ENOG410YWPJ LUCA
GeneTreeiENSGT00440000037826
HOGENOMiHOG000112367
InParanoidiQ9NRM1
KOiK23444
OMAiFPQYQMP
OrthoDBi201332at2759
PhylomeDBiQ9NRM1
TreeFamiTF337278

Enzyme and pathway databases

ReactomeiR-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ENAM

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

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GenomeRNAii
10117
PharosiQ9NRM1

Protein Ontology

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PROi
PR:Q9NRM1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000132464 Expressed in 87 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ9NRM1 baseline and differential
GenevisibleiQ9NRM1 HS

Family and domain databases

InterProiView protein in InterPro
IPR015673 Enamelin
PANTHERiPTHR16784 PTHR16784, 1 hit
PfamiView protein in Pfam
PF15362 Enamelin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiENAM_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: Q9NRM1
Secondary accession number(s): Q17RI5, Q9H3D1
<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: December 1, 2000
Last sequence update: November 4, 2008
Last modified: October 16, 2019
This is version 147 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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