Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Neutral and basic amino acid transport protein rBAT

Gene

SLC3A1

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 high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.4 Publications

<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 processAmino-acid transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-5619113 Defective SLC3A1 causes cystinuria (CSNU)

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q07837

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH13 Glycoside Hydrolase Family 13

Transport Classification Database

More...
TCDBi
8.A.9.1.2 the rbat transport accessory protein (rbat) 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:
Neutral and basic amino acid transport protein rBAT
Short name:
NBAT
Alternative name(s):
D2h
Solute carrier family 3 member 1
b(0,+)-type amino acid transport protein
<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:SLC3A1
Synonyms:RBAT
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000138079.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11025 SLC3A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
104614 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q07837

<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; 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 – 87CytoplasmicSequence analysisAdd BLAST87
<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>Transmembranei88 – 108Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini109 – 685ExtracellularSequence analysisAdd BLAST577

Keywords - Cellular componenti

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

Cystinuria (CSNU)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
See also OMIM:220100
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_07228389L → P in CSNU. 1 Publication1
Natural variantiVAR_064040122P → S in CSNU. 1 Publication1
Natural variantiVAR_072284123M → R in CSNU. 1 Publication1
Natural variantiVAR_072285124Y → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs766947722Ensembl.1
Natural variantiVAR_011420128P → Q in CSNU. 1 Publication1
Natural variantiVAR_072286130S → P in CSNU. 1 Publication1
Natural variantiVAR_072287137D → G in CSNU. 2 Publications1
Natural variantiVAR_072288140G → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs768848958Ensembl.1
Natural variantiVAR_072289149L → Q in CSNU. 1 Publication1
Natural variantiVAR_038200151Y → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs778354350Ensembl.1
Natural variantiVAR_072290179D → Y in CSNU. 1 PublicationCorresponds to variant dbSNP:rs747660493Ensembl.1
Natural variantiVAR_011421181R → Q in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912694EnsemblClinVar.1
Natural variantiVAR_072291183V → A in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072292189T → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs140317484Ensembl.1
Natural variantiVAR_022600216T → M in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs369641941Ensembl.1
Natural variantiVAR_038201253N → K in CSNU. 1 Publication1
Natural variantiVAR_011422268E → K in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs757239030Ensembl.1
Natural variantiVAR_011423341T → A in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs200287661Ensembl.1
Natural variantiVAR_072293346L → P in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072294348H → P in CSNU. 1 PublicationCorresponds to variant dbSNP:rs756887216Ensembl.1
Natural variantiVAR_022601362R → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs375399468Ensembl.1
Natural variantiVAR_038202362R → H in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912697EnsemblClinVar.1
Natural variantiVAR_072295365R → P in CSNU. 1 PublicationCorresponds to variant dbSNP:rs567478582Ensembl.1
Natural variantiVAR_011424365R → W in CSNU. 3 PublicationsCorresponds to variant dbSNP:rs765828196Ensembl.1
Natural variantiVAR_038203398G → R in CSNU. 1 Publication1
Natural variantiVAR_072296410N → K in CSNU. 1 Publication1
Natural variantiVAR_072297441P → R in CSNU. 1 Publication1
Natural variantiVAR_072298445I → T in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs187962930EnsemblClinVar.1
Natural variantiVAR_072299452R → Q in CSNU. 1 PublicationCorresponds to variant dbSNP:rs750912461Ensembl.1
Natural variantiVAR_011425452R → W in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs201502095EnsemblClinVar.1
Natural variantiVAR_072300455S → L in CSNU. 1 PublicationCorresponds to variant dbSNP:rs949704245Ensembl.1
Natural variantiVAR_072301456R → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs139251285Ensembl.1
Natural variantiVAR_072302456R → H in CSNU. 1 PublicationCorresponds to variant dbSNP:rs373852467Ensembl.1
Natural variantiVAR_011426461Y → H in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs144162964EnsemblClinVar.1
Natural variantiVAR_011428467M → K in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912691EnsemblClinVar.1
Natural variantiVAR_011427467M → T in CSNU; loss of 80% of amino acid transport activity. 6 PublicationsCorresponds to variant dbSNP:rs121912691EnsemblClinVar.1
Natural variantiVAR_038204481G → V in CSNU. 1 Publication1
Natural variantiVAR_038205482E → K in CSNU. 1 Publication1
Natural variantiVAR_072303507S → L in CSNU. 1 Publication1
Natural variantiVAR_022602508P → A in CSNU. 1 PublicationCorresponds to variant dbSNP:rs1032513393Ensembl.1
Natural variantiVAR_038206510Q → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs778925791Ensembl.1
Natural variantiVAR_072304547S → W in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs368796166Ensembl.1
Natural variantiVAR_072305568G → S in CSNU. 1 PublicationCorresponds to variant dbSNP:rs376639206Ensembl.1
Natural variantiVAR_011429582Y → H in CSNU. 1 PublicationCorresponds to variant dbSNP:rs776729515Ensembl.1
Natural variantiVAR_038207584R → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs759696513Ensembl.1
Natural variantiVAR_038208599F → S in CSNU. 1 PublicationCorresponds to variant dbSNP:rs146963107Ensembl.1
Natural variantiVAR_038209600G → E in CSNU. 1 PublicationCorresponds to variant dbSNP:rs141944551Ensembl.1
Natural variantiVAR_011430615P → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912696EnsemblClinVar.1
Natural variantiVAR_011432648F → S in CSNU. 1 Publication1
Natural variantiVAR_011433652T → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912695EnsemblClinVar.1
Natural variantiVAR_072306666C → W in CSNU. 1 Publication1
Natural variantiVAR_072307673C → R in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs756823144Ensembl.1
Natural variantiVAR_011434678L → P in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912693EnsemblClinVar.1
Hypotonia-cystinuria syndrome (HCS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.
See also OMIM:606407

Keywords - Diseasei

Cystinuria, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6519

MalaCards human disease database

More...
MalaCardsi
SLC3A1
MIMi220100 phenotype
606407 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138079

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

More...
Orphaneti
163693 2p21 microdeletion syndrome
238523 Atypical hypotonia-cystinuria syndrome
93612 Cystinuria type A
163690 Hypotonia-cystinuria syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35893

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00138 L-Cystine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC3A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
67472674

<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_00000719501 – 685Neutral and basic amino acid transport protein rBATAdd BLAST685

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 residuei10PhosphoserineBy 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>Glycosylationi214N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi261N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi332N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi495N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi513N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi575N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

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

More...
PaxDbi
Q07837

PeptideAtlas

More...
PeptideAtlasi
Q07837

PRoteomics IDEntifications database

More...
PRIDEi
Q07837

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58542

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q07837

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

More...
PhosphoSitePlusi
Q07837

<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 the brush border membrane in the kidney (at protein level). Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138079 Expressed in 137 organ(s), highest expression level in kidney epithelium

CleanEx database of gene expression profiles

More...
CleanExi
HS_SLC3A1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q07837 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q07837 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038360
HPA071102

<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

Disulfide-linked heterodimer with the amino acid transport protein SLC7A9.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112410, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000260649

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q07837

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0471 Eukaryota
COG0366 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158103

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000220640

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG053002

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q07837

KEGG Orthology (KO)

More...
KOi
K14210

Identification of Orthologs from Complete Genome Data

More...
OMAi
PNGEKWA

Database of Orthologous Groups

More...
OrthoDBi
EOG091G03FE

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q07837

TreeFam database of animal gene trees

More...
TreeFami
TF314498

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006047 Glyco_hydro_13_cat_dom
IPR017853 Glycoside_hydrolase_SF

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00128 Alpha-amylase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00642 Aamy, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51445 SSF51445, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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 7 <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 7 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q07837-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MAEDKSKRDS IEMSMKGCQT NNGFVHNEDI LEQTPDPGSS TDNLKHSTRG
60 70 80 90 100
ILGSQEPDFK GVQPYAGMPK EVLFQFSGQA RYRIPREILF WLTVASVLVL
110 120 130 140 150
IAATIAIIAL SPKCLDWWQE GPMYQIYPRS FKDSNKDGNG DLKGIQDKLD
160 170 180 190 200
YITALNIKTV WITSFYKSSL KDFRYGVEDF REVDPIFGTM EDFENLVAAI
210 220 230 240 250
HDKGLKLIID FIPNHTSDKH IWFQLSRTRT GKYTDYYIWH DCTHENGKTI
260 270 280 290 300
PPNNWLSVYG NSSWHFDEVR NQCYFHQFMK EQPDLNFRNP DVQEEIKEIL
310 320 330 340 350
RFWLTKGVDG FSLDAVKFLL EAKHLRDEIQ VNKTQIPDTV TQYSELYHDF
360 370 380 390 400
TTTQVGMHDI VRSFRQTMDQ YSTEPGRYRF MGTEAYAESI DRTVMYYGLP
410 420 430 440 450
FIQEADFPFN NYLSMLDTVS GNSVYEVITS WMENMPEGKW PNWMIGGPDS
460 470 480 490 500
SRLTSRLGNQ YVNVMNMLLF TLPGTPITYY GEEIGMGNIV AANLNESYDI
510 520 530 540 550
NTLRSKSPMQ WDNSSNAGFS EASNTWLPTN SDYHTVNVDV QKTQPRSALK
560 570 580 590 600
LYQDLSLLHA NELLLNRGWF CHLRNDSHYV VYTRELDGID RIFIVVLNFG
610 620 630 640 650
ESTLLNLHNM ISGLPAKMRI RLSTNSADKG SKVDTSGIFL DKGEGLIFEH
660 670 680
NTKNLLHRQT AFRDRCFVSN RACYSSVLNI LYTSC
Length:685
Mass (Da):78,852
Last modified:May 10, 2005 - v2
<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:iF9D6DFD548283899
GO
Isoform B (identifier: Q07837-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-278: Missing.

Show »
Length:407
Mass (Da):46,728
Checksum:i073D5E14EF8FEC59
GO
Isoform C (identifier: Q07837-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     380-391: FMGTEAYAESID → LTTAYALISSQA
     392-685: Missing.

Show »
Length:391
Mass (Da):45,370
Checksum:iBD09E3E0DAD64C0B
GO
Isoform D (identifier: Q07837-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MAEDKSKR → MTLNLVNS
     9-377: Missing.

Show »
Length:316
Mass (Da):35,913
Checksum:i34F115707CF076E1
GO
Isoform E (identifier: Q07837-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     501-502: NT → VS
     503-685: Missing.

Show »
Length:502
Mass (Da):57,998
Checksum:i8EC96914C99BD5D7
GO
Isoform F (identifier: Q07837-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-564: QKTQPRSALKLYQDLSLLHANELL → SISENFMLILETKKWVSTESTHSP
     565-685: Missing.

Show »
Length:564
Mass (Da):65,013
Checksum:i00F102753414E97B
GO
Isoform G (identifier: Q07837-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-551: QKTQPRSALKL → LLRHPCSSAVA
     552-685: Missing.

Show »
Length:551
Mass (Da):63,401
Checksum:iB92CDFE941512647
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B8ZZK1B8ZZK1_HUMAN
Neutral and basic amino acid transp...
SLC3A1
564Annotation 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>
A0A087X0R9A0A087X0R9_HUMAN
Neutral and basic amino acid transp...
SLC3A1
552Annotation 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>
C9JBK3C9JBK3_HUMAN
Neutral and basic amino acid transp...
SLC3A1
143Annotation 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>
B8ZZP2B8ZZP2_HUMAN
Neutral and basic amino acid transp...
SLC3A1
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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07228389L → P in CSNU. 1 Publication1
Natural variantiVAR_064040122P → S in CSNU. 1 Publication1
Natural variantiVAR_072284123M → R in CSNU. 1 Publication1
Natural variantiVAR_072285124Y → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs766947722Ensembl.1
Natural variantiVAR_011420128P → Q in CSNU. 1 Publication1
Natural variantiVAR_072286130S → P in CSNU. 1 Publication1
Natural variantiVAR_072287137D → G in CSNU. 2 Publications1
Natural variantiVAR_072288140G → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs768848958Ensembl.1
Natural variantiVAR_072289149L → Q in CSNU. 1 Publication1
Natural variantiVAR_038200151Y → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs778354350Ensembl.1
Natural variantiVAR_072290179D → Y in CSNU. 1 PublicationCorresponds to variant dbSNP:rs747660493Ensembl.1
Natural variantiVAR_011421181R → Q in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912694EnsemblClinVar.1
Natural variantiVAR_072291183V → A in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072292189T → M in CSNU. 1 PublicationCorresponds to variant dbSNP:rs140317484Ensembl.1
Natural variantiVAR_022600216T → M in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs369641941Ensembl.1
Natural variantiVAR_038201253N → K in CSNU. 1 Publication1
Natural variantiVAR_011422268E → K in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs757239030Ensembl.1
Natural variantiVAR_011423341T → A in CSNU; reduction in amino acid transport activity. 1 PublicationCorresponds to variant dbSNP:rs200287661Ensembl.1
Natural variantiVAR_072293346L → P in CSNU; unknown pathological significance. 1 Publication1
Natural variantiVAR_072294348H → P in CSNU. 1 PublicationCorresponds to variant dbSNP:rs756887216Ensembl.1
Natural variantiVAR_022601362R → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs375399468Ensembl.1
Natural variantiVAR_038202362R → H in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912697EnsemblClinVar.1
Natural variantiVAR_072295365R → P in CSNU. 1 PublicationCorresponds to variant dbSNP:rs567478582Ensembl.1
Natural variantiVAR_011424365R → W in CSNU. 3 PublicationsCorresponds to variant dbSNP:rs765828196Ensembl.1
Natural variantiVAR_038203398G → R in CSNU. 1 Publication1
Natural variantiVAR_072296410N → K in CSNU. 1 Publication1
Natural variantiVAR_072297441P → R in CSNU. 1 Publication1
Natural variantiVAR_072298445I → T in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs187962930EnsemblClinVar.1
Natural variantiVAR_072299452R → Q in CSNU. 1 PublicationCorresponds to variant dbSNP:rs750912461Ensembl.1
Natural variantiVAR_011425452R → W in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs201502095EnsemblClinVar.1
Natural variantiVAR_072300455S → L in CSNU. 1 PublicationCorresponds to variant dbSNP:rs949704245Ensembl.1
Natural variantiVAR_072301456R → C in CSNU. 1 PublicationCorresponds to variant dbSNP:rs139251285Ensembl.1
Natural variantiVAR_072302456R → H in CSNU. 1 PublicationCorresponds to variant dbSNP:rs373852467Ensembl.1
Natural variantiVAR_011426461Y → H in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs144162964EnsemblClinVar.1
Natural variantiVAR_011428467M → K in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912691EnsemblClinVar.1
Natural variantiVAR_011427467M → T in CSNU; loss of 80% of amino acid transport activity. 6 PublicationsCorresponds to variant dbSNP:rs121912691EnsemblClinVar.1
Natural variantiVAR_038204481G → V in CSNU. 1 Publication1
Natural variantiVAR_038205482E → K in CSNU. 1 Publication1
Natural variantiVAR_072303507S → L in CSNU. 1 Publication1
Natural variantiVAR_022602508P → A in CSNU. 1 PublicationCorresponds to variant dbSNP:rs1032513393Ensembl.1
Natural variantiVAR_038206510Q → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs778925791Ensembl.1
Natural variantiVAR_072304547S → W in CSNU. 2 PublicationsCorresponds to variant dbSNP:rs368796166Ensembl.1
Natural variantiVAR_072305568G → S in CSNU. 1 PublicationCorresponds to variant dbSNP:rs376639206Ensembl.1
Natural variantiVAR_011429582Y → H in CSNU. 1 PublicationCorresponds to variant dbSNP:rs776729515Ensembl.1
Natural variantiVAR_038207584R → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs759696513Ensembl.1
Natural variantiVAR_038208599F → S in CSNU. 1 PublicationCorresponds to variant dbSNP:rs146963107Ensembl.1
Natural variantiVAR_038209600G → E in CSNU. 1 PublicationCorresponds to variant dbSNP:rs141944551Ensembl.1
Natural variantiVAR_011430615P → T in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912696EnsemblClinVar.1
Natural variantiVAR_011431618M → I8 PublicationsCorresponds to variant dbSNP:rs698761EnsemblClinVar.1
Natural variantiVAR_011432648F → S in CSNU. 1 Publication1
Natural variantiVAR_011433652T → R in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912695EnsemblClinVar.1
Natural variantiVAR_072306666C → W in CSNU. 1 Publication1
Natural variantiVAR_072307673C → R in CSNU; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs756823144Ensembl.1
Natural variantiVAR_011434678L → P in CSNU. 1 PublicationCorresponds to variant dbSNP:rs121912693EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0543391 – 278Missing in isoform B. 1 PublicationAdd BLAST278
Alternative sequenceiVSP_0543401 – 8MAEDKSKR → MTLNLVNS in isoform D. 1 Publication8
Alternative sequenceiVSP_0543419 – 377Missing in isoform D. 1 PublicationAdd BLAST369
Alternative sequenceiVSP_054342380 – 391FMGTE…AESID → LTTAYALISSQA in isoform C. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_054343392 – 685Missing in isoform C. 1 PublicationAdd BLAST294
Alternative sequenceiVSP_054344501 – 502NT → VS in isoform E. 1 Publication2
Alternative sequenceiVSP_054345503 – 685Missing in isoform E. 1 PublicationAdd BLAST183
Alternative sequenceiVSP_054346541 – 564QKTQP…ANELL → SISENFMLILETKKWVSTES THSP in isoform F. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_054347541 – 551QKTQPRSALKL → LLRHPCSSAVA in isoform G. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_054348552 – 685Missing in isoform G. 1 PublicationAdd BLAST134
Alternative sequenceiVSP_054349565 – 685Missing in isoform F. 1 PublicationAdd BLAST121

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
M95548 mRNA Translation: AAA35500.1
L11696 mRNA Translation: AAA81778.1
D82326 mRNA Translation: BAA11541.1
U60819
, U60810, U60811, U60812, U60813, U60816, U60818, U60814, U60815 Genomic DNA Translation: AAB39829.1
AB033549 mRNA Translation: BAB16841.1
DQ023512 mRNA Translation: AAY89643.1
DQ023513 mRNA Translation: AAY89644.1
DQ023514 mRNA Translation: AAY89645.1
DQ023515 mRNA Translation: AAY89646.1
DQ023516 mRNA Translation: AAY89647.1
DQ023517 mRNA Translation: AAY89648.1
AK223146 mRNA Translation: BAD96866.1
AK289636 mRNA Translation: BAF82325.1
AC013717 Genomic DNA Translation: AAX88955.1
BC022386 mRNA Translation: AAH22386.1
BC093624 mRNA Translation: AAH93624.1
BC093626 mRNA Translation: AAH93626.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1819.1 [Q07837-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A47102

NCBI Reference Sequences

More...
RefSeqi
NP_000332.2, NM_000341.3 [Q07837-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.112916

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000260649; ENSP00000260649; ENSG00000138079 [Q07837-1]
ENST00000409229; ENSP00000386620; ENSG00000138079 [Q07837-6]
ENST00000409380; ENSP00000386709; ENSG00000138079 [Q07837-2]
ENST00000409740; ENSP00000386677; ENSG00000138079 [Q07837-4]
ENST00000409741; ENSP00000386954; ENSG00000138079 [Q07837-5]
ENST00000410056; ENSP00000387337; ENSG00000138079 [Q07837-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6519

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6519

UCSC genome browser

More...
UCSCi
uc002rty.4 human [Q07837-1]

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
M95548 mRNA Translation: AAA35500.1
L11696 mRNA Translation: AAA81778.1
D82326 mRNA Translation: BAA11541.1
U60819
, U60810, U60811, U60812, U60813, U60816, U60818, U60814, U60815 Genomic DNA Translation: AAB39829.1
AB033549 mRNA Translation: BAB16841.1
DQ023512 mRNA Translation: AAY89643.1
DQ023513 mRNA Translation: AAY89644.1
DQ023514 mRNA Translation: AAY89645.1
DQ023515 mRNA Translation: AAY89646.1
DQ023516 mRNA Translation: AAY89647.1
DQ023517 mRNA Translation: AAY89648.1
AK223146 mRNA Translation: BAD96866.1
AK289636 mRNA Translation: BAF82325.1
AC013717 Genomic DNA Translation: AAX88955.1
BC022386 mRNA Translation: AAH22386.1
BC093624 mRNA Translation: AAH93624.1
BC093626 mRNA Translation: AAH93626.1
CCDSiCCDS1819.1 [Q07837-1]
PIRiA47102
RefSeqiNP_000332.2, NM_000341.3 [Q07837-1]
UniGeneiHs.112916

3D structure databases

ProteinModelPortaliQ07837
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112410, 2 interactors
STRINGi9606.ENSP00000260649

Chemistry databases

DrugBankiDB00138 L-Cystine

Protein family/group databases

CAZyiGH13 Glycoside Hydrolase Family 13
TCDBi8.A.9.1.2 the rbat transport accessory protein (rbat) family

PTM databases

iPTMnetiQ07837
PhosphoSitePlusiQ07837

Polymorphism and mutation databases

BioMutaiSLC3A1
DMDMi67472674

Proteomic databases

PaxDbiQ07837
PeptideAtlasiQ07837
PRIDEiQ07837
ProteomicsDBi58542

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6519
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260649; ENSP00000260649; ENSG00000138079 [Q07837-1]
ENST00000409229; ENSP00000386620; ENSG00000138079 [Q07837-6]
ENST00000409380; ENSP00000386709; ENSG00000138079 [Q07837-2]
ENST00000409740; ENSP00000386677; ENSG00000138079 [Q07837-4]
ENST00000409741; ENSP00000386954; ENSG00000138079 [Q07837-5]
ENST00000410056; ENSP00000387337; ENSG00000138079 [Q07837-3]
GeneIDi6519
KEGGihsa:6519
UCSCiuc002rty.4 human [Q07837-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6519
DisGeNETi6519
EuPathDBiHostDB:ENSG00000138079.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC3A1
HGNCiHGNC:11025 SLC3A1
HPAiHPA038360
HPA071102
MalaCardsiSLC3A1
MIMi104614 gene
220100 phenotype
606407 phenotype
neXtProtiNX_Q07837
OpenTargetsiENSG00000138079
Orphaneti163693 2p21 microdeletion syndrome
238523 Atypical hypotonia-cystinuria syndrome
93612 Cystinuria type A
163690 Hypotonia-cystinuria syndrome
PharmGKBiPA35893

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0471 Eukaryota
COG0366 LUCA
GeneTreeiENSGT00940000158103
HOGENOMiHOG000220640
HOVERGENiHBG053002
InParanoidiQ07837
KOiK14210
OMAiPNGEKWA
OrthoDBiEOG091G03FE
PhylomeDBiQ07837
TreeFamiTF314498

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-5619113 Defective SLC3A1 causes cystinuria (CSNU)
SIGNORiQ07837

Miscellaneous databases

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

More...
ChiTaRSi
SLC3A1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SLC3A1

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

More...
GenomeRNAii
6519

Protein Ontology

More...
PROi
PR:Q07837

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138079 Expressed in 137 organ(s), highest expression level in kidney epithelium
CleanExiHS_SLC3A1
ExpressionAtlasiQ07837 baseline and differential
GenevisibleiQ07837 HS

Family and domain databases

InterProiView protein in InterPro
IPR006047 Glyco_hydro_13_cat_dom
IPR017853 Glycoside_hydrolase_SF
PfamiView protein in Pfam
PF00128 Alpha-amylase, 1 hit
SMARTiView protein in SMART
SM00642 Aamy, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiSLC31_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: Q07837
Secondary accession number(s): A8K0S1
, O00658, Q15295, Q4J6B4, Q4J6B5, Q4J6B6, Q4J6B7, Q4J6B8, Q4J6B9, Q52M92, Q52M94
<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: September 26, 2001
Last sequence update: May 10, 2005
Last modified: December 5, 2018
This is version 192 of the entry and version 2 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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