Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 137 (18 Sep 2019)
Sequence version 4 (12 Apr 2017)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Zinc transporter ZIP4

Gene

SLC39A4

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

Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity).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 processIon transport, Transport, Zinc transport
LigandZinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-442380 Zinc influx into cells by the SLC39 gene family
R-HSA-5619088 Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.5.4.1 the zinc (zn(2+))-iron (fe(2+)) permease (zip) 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:
Zinc transporter ZIP4
Alternative name(s):
Solute carrier family 39 member 4
Zrt- and Irt-like protein 4
Short name:
ZIP-4
<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:SLC39A4
Synonyms:ZIP4
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17129 SLC39A4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607059 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6P5W5

<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 domaini23 – 327ExtracellularSequence analysisAdd BLAST305
<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>Transmembranei328 – 348Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini349 – 359CytoplasmicSequence analysisAdd BLAST11
Transmembranei360 – 380Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini381 – 402ExtracellularSequence analysisAdd BLAST22
Transmembranei403 – 423Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini424 – 558CytoplasmicSequence analysisAdd BLAST135
Transmembranei559 – 579Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini580 – 586ExtracellularSequence analysis7
Transmembranei587 – 607Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini608 – 617CytoplasmicSequence analysis10
Transmembranei618 – 638Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini639 – 647ExtracellularSequence analysis9

Keywords - Cellular componenti

Cell membrane, Endosome, 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

Acrodermatitis enteropathica, zinc-deficiency type (AEZ)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.
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_02362995R → C in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434292EnsemblClinVar.1
Natural variantiVAR_023630106N → K in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434290EnsemblClinVar.1
Natural variantiVAR_023632200P → L in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434287EnsemblClinVar.1
Natural variantiVAR_023633251R → W in AEZ; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs2977838Ensembl.1
Natural variantiVAR_023634303Q → H in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434293EnsemblClinVar.1
Natural variantiVAR_023635309C → Y in AEZ; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs782110796Ensembl.1
Natural variantiVAR_023636330G → D in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434291EnsemblClinVar.1
Natural variantiVAR_023638372V → P in AEZ; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_023639374G → R in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434289EnsemblClinVar.1
Natural variantiVAR_023640410L → P in AEZ; unknown pathological significance. 1 Publication1
Natural variantiVAR_023641526G → R in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434288EnsemblClinVar.1
Natural variantiVAR_023642630G → R in AEZ. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55630

MalaCards human disease database

More...
MalaCardsi
SLC39A4
MIMi201100 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000147804

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

More...
Orphaneti
37 Acrodermatitis enteropathica

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38204

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC39A4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296452970

<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 – 22Sequence analysisAdd BLAST22
<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_000004262023 – 647Zinc transporter ZIP4Add BLAST625

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>Glycosylationi261N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6P5W5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6P5W5

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

More...
PaxDbi
Q6P5W5

PeptideAtlas

More...
PeptideAtlasi
Q6P5W5

PRoteomics IDEntifications database

More...
PRIDEi
Q6P5W5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67007 [Q6P5W5-1]
67008 [Q6P5W5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6P5W5

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

More...
PhosphoSitePlusi
Q6P5W5

<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

Highly expressed in kidney, small intestine, stomach, colon, jejunum and duodenum.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147804 Expressed in 171 organ(s), highest expression level in jejunal mucosa

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6P5W5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6P5W5 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120769, 103 interactors

Protein interaction database and analysis system

More...
IntActi
Q6P5W5, 69 interactors

Molecular INTeraction database

More...
MINTi
Q6P5W5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000301305

<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
Q6P5W5

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

<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

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2693 Eukaryota
COG0428 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160042

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000293181

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6P5W5

KEGG Orthology (KO)

More...
KOi
K14710

Identification of Orthologs from Complete Genome Data

More...
OMAi
KDGPCSH

Database of Orthologous Groups

More...
OrthoDBi
657777at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6P5W5

TreeFam database of animal gene trees

More...
TreeFami
TF318470

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003689 ZIP
IPR041137 ZIP4_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02535 Zip, 1 hit
PF18292 ZIP4_domain, 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>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.

<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 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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6P5W5-1) [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
MASLVSLELG LLLAVLVVTA TASPPAGLLS LLTSGQGALD QEALGGLLNT
60 70 80 90 100
LADRVHCANG PCGKCLSVED ALGLGEPEGS GLPPGPVLEA RYVARLSAAA
110 120 130 140 150
VLYLSNPEGT CEDARAGLWA SHADHLLALL ESPKALTPGL SWLLQRMQAR
160 170 180 190 200
AAGQTPKMAC VDIPQLLEEA VGAGAPGSAG GVLAALLDHV RSGSCFHALP
210 220 230 240 250
SPQYFVDFVF QQHSSEVPMT LAELSALMQR LGVGREAHSD HSHRHRGASS
260 270 280 290 300
RDPVPLISSS NSSSVWDTVC LSARDVMAAY GLSEQAGVTP EAWAQLSPAL
310 320 330 340 350
LQQQLSGACT SQSRPPVQDQ LSQSERYLYG SLATLLICLC AVFGLLLLTC
360 370 380 390 400
TGCRGVTHYI LQTFLSLAVG AVTGDAVLHL TPKVLGLHTH SEEGLSPQPT
410 420 430 440 450
WRLLAMLAGL YAFFLFENLF NLLLPRDPED LEDGPCGHSS HSHGGHSHGV
460 470 480 490 500
SLQLAPSELR QPKPPHEGSR ADLVAEESPE LLNPEPRRLS PELRLLPYMI
510 520 530 540 550
TLGDAVHNFA DGLAVGAAFA SSWKTGLATS LAVFCHELPH ELGDFAALLH
560 570 580 590 600
AGLSVRQALL LNLASALTAF AGLYVALAVG VSEESEAWIL AVATGLFLYV
610 620 630 640
ALCDMLPAML KVRDPRPWLL FLLHNVGLLG GWTVLLLLSL YEDDITF
Length:647
Mass (Da):68,408
Last modified:April 12, 2017 - v4
<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:iAB84735F4BEF434F
GO
Isoform 2 (identifier: Q6P5W5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.
     26-64: AGLLSLLTSG...VHCANGPCGK → MVDVVGLERE...APLLTCLCPQ

Show »
Length:622
Mass (Da):66,178
Checksum:i1E0E5B89D75C86AC
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NDY5A6NDY5_HUMAN
Zinc transporter ZIP4
SLC39A4
622Annotation 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>
E9PQ16E9PQ16_HUMAN
Zinc transporter ZIP4
SLC39A4
184Annotation 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 BAA91091 differs from that shown. Reason: Frameshift at positions 573, 598 and 618.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06048722A → E. Corresponds to variant dbSNP:rs2280839Ensembl.1
Natural variantiVAR_02362758A → T3 PublicationsCorresponds to variant dbSNP:rs2280838EnsemblClinVar.1
Natural variantiVAR_02362884P → L1 PublicationCorresponds to variant dbSNP:rs117535951EnsemblClinVar.1
Natural variantiVAR_02362995R → C in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434292EnsemblClinVar.1
Natural variantiVAR_023630106N → K in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434290EnsemblClinVar.1
Natural variantiVAR_023631114A → T3 PublicationsCorresponds to variant dbSNP:rs17855765EnsemblClinVar.1
Natural variantiVAR_057481158M → T. Corresponds to variants dbSNP:rs886062750 and dbSNP:rs912659693EnsemblEnsembl.1
Natural variantiVAR_023632200P → L in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434287EnsemblClinVar.1
Natural variantiVAR_023633251R → W in AEZ; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs2977838Ensembl.1
Natural variantiVAR_057482284E → K. Corresponds to variant dbSNP:rs7823979EnsemblClinVar.1
Natural variantiVAR_023634303Q → H in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434293EnsemblClinVar.1
Natural variantiVAR_023635309C → Y in AEZ; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs782110796Ensembl.1
Natural variantiVAR_023636330G → D in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434291EnsemblClinVar.1
Natural variantiVAR_023637357T → A2 PublicationsCorresponds to variant dbSNP:rs2272662EnsemblClinVar.1
Natural variantiVAR_057483372V → L. Corresponds to variants dbSNP:rs886062748 and dbSNP:rs1001827527EnsemblEnsembl.1
Natural variantiVAR_023638372V → P in AEZ; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_023639374G → R in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434289EnsemblClinVar.1
Natural variantiVAR_023640410L → P in AEZ; unknown pathological significance. 1 Publication1
Natural variantiVAR_023641526G → R in AEZ. 1 PublicationCorresponds to variant dbSNP:rs121434288EnsemblClinVar.1
Natural variantiVAR_023642630G → R in AEZ. 1 Publication1

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_0159111 – 25Missing in isoform 2. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_01591226 – 64AGLLS…GPCGK → MVDVVGLERETGPRGSPWPG LPLPSLVGPAPLLTCLCPQ in isoform 2. 2 PublicationsAdd BLAST39

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK000334 mRNA Translation: BAA91091.1 Frameshift.
AK025537 mRNA Translation: BAB15164.1
AF205589 Genomic DNA No translation available.
BC001688 mRNA Translation: AAH01688.2
BC062625 mRNA Translation: AAH62625.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43782.1 [Q6P5W5-2]
CCDS6424.1 [Q6P5W5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_060237.2, NM_017767.2 [Q6P5W5-2]
NP_570901.2, NM_130849.3 [Q6P5W5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000276833; ENSP00000276833; ENSG00000147804 [Q6P5W5-2]
ENST00000301305; ENSP00000301305; ENSG00000147804 [Q6P5W5-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55630

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55630

UCSC genome browser

More...
UCSCi
uc003zcq.4 human [Q6P5W5-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000334 mRNA Translation: BAA91091.1 Frameshift.
AK025537 mRNA Translation: BAB15164.1
AF205589 Genomic DNA No translation available.
BC001688 mRNA Translation: AAH01688.2
BC062625 mRNA Translation: AAH62625.1
CCDSiCCDS43782.1 [Q6P5W5-2]
CCDS6424.1 [Q6P5W5-1]
RefSeqiNP_060237.2, NM_017767.2 [Q6P5W5-2]
NP_570901.2, NM_130849.3 [Q6P5W5-1]

3D structure databases

SMRiQ6P5W5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120769, 103 interactors
IntActiQ6P5W5, 69 interactors
MINTiQ6P5W5
STRINGi9606.ENSP00000301305

Protein family/group databases

TCDBi2.A.5.4.1 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family

PTM databases

iPTMnetiQ6P5W5
PhosphoSitePlusiQ6P5W5

Polymorphism and mutation databases

BioMutaiSLC39A4
DMDMi296452970

Proteomic databases

jPOSTiQ6P5W5
MassIVEiQ6P5W5
PaxDbiQ6P5W5
PeptideAtlasiQ6P5W5
PRIDEiQ6P5W5
ProteomicsDBi67007 [Q6P5W5-1]
67008 [Q6P5W5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000276833; ENSP00000276833; ENSG00000147804 [Q6P5W5-2]
ENST00000301305; ENSP00000301305; ENSG00000147804 [Q6P5W5-1]
GeneIDi55630
KEGGihsa:55630
UCSCiuc003zcq.4 human [Q6P5W5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55630
DisGeNETi55630

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC39A4
HGNCiHGNC:17129 SLC39A4
MalaCardsiSLC39A4
MIMi201100 phenotype
607059 gene
neXtProtiNX_Q6P5W5
OpenTargetsiENSG00000147804
Orphaneti37 Acrodermatitis enteropathica
PharmGKBiPA38204

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2693 Eukaryota
COG0428 LUCA
GeneTreeiENSGT00940000160042
HOGENOMiHOG000293181
InParanoidiQ6P5W5
KOiK14710
OMAiKDGPCSH
OrthoDBi657777at2759
PhylomeDBiQ6P5W5
TreeFamiTF318470

Enzyme and pathway databases

ReactomeiR-HSA-442380 Zinc influx into cells by the SLC39 gene family
R-HSA-5619088 Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SLC39A4 human

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

More...
GenomeRNAii
55630

Pharos

More...
Pharosi
Q6P5W5

Protein Ontology

More...
PROi
PR:Q6P5W5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147804 Expressed in 171 organ(s), highest expression level in jejunal mucosa
ExpressionAtlasiQ6P5W5 baseline and differential
GenevisibleiQ6P5W5 HS

Family and domain databases

InterProiView protein in InterPro
IPR003689 ZIP
IPR041137 ZIP4_N
PfamiView protein in Pfam
PF02535 Zip, 1 hit
PF18292 ZIP4_domain, 1 hit

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 nameiS39A4_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: Q6P5W5
Secondary accession number(s): Q7L5S5, Q9H6T8, Q9NXC4
<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: October 25, 2005
Last sequence update: April 12, 2017
Last modified: September 18, 2019
This is version 137 of the entry and version 4 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 chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again