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P40879

- S26A3_HUMAN

UniProt

P40879 - S26A3_HUMAN

Protein

Chloride anion exchanger

Gene

SLC26A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 1 (01 Feb 1995)
      Previous versions | rss
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    Functioni

    Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

    GO - Molecular functioni

    1. anion:anion antiporter activity Source: Ensembl
    2. bicarbonate transmembrane transporter activity Source: UniProtKB
    3. chloride transmembrane transporter activity Source: UniProtKB
    4. protein binding Source: IntAct
    5. secondary active sulfate transmembrane transporter activity Source: InterPro
    6. sequence-specific DNA binding transcription factor activity Source: ProtInc
    7. transcription cofactor activity Source: ProtInc
    8. transporter activity Source: ProtInc

    GO - Biological processi

    1. anion transport Source: ProtInc
    2. cellular response to cAMP Source: UniProtKB
    3. chloride transmembrane transport Source: GOC
    4. excretion Source: ProtInc
    5. intracellular pH elevation Source: UniProtKB
    6. ion transport Source: Reactome
    7. membrane hyperpolarization Source: UniProtKB
    8. regulation of RNA biosynthetic process Source: GOC
    9. regulation of transcription, DNA-templated Source: GOC
    10. sperm capacitation Source: UniProtKB
    11. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Antiport, Transport

    Keywords - Ligandi

    Chloride

    Enzyme and pathway databases

    ReactomeiREACT_19357. Multifunctional anion exchangers.

    Protein family/group databases

    TCDBi2.A.53.2.18. the sulfate permease (sulp) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Chloride anion exchanger
    Alternative name(s):
    Down-regulated in adenoma
    Short name:
    Protein DRA
    Solute carrier family 26 member 3
    Gene namesi
    Name:SLC26A3
    Synonyms:DRA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:3018. SLC26A3.

    Subcellular locationi

    Apical cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Membrane By similarity; Multi-pass membrane protein By similarity
    Note: Localized in sperm membranes. Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm tail By similarity.By similarity

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. brush border membrane Source: Ensembl
    3. integral component of membrane Source: UniProtKB-KW
    4. membrane Source: UniProtKB
    5. plasma membrane Source: Reactome
    6. sperm midpiece Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]: A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201G → S in DIAR1. 2 Publications
    VAR_007428
    Natural varianti124 – 1241H → L in DIAR1. 2 Publications
    VAR_007429
    Natural varianti129 – 1291P → L in DIAR1. 1 Publication
    VAR_066062
    Natural varianti131 – 1311P → L in DIAR1. 1 Publication
    VAR_066063
    Natural varianti131 – 1311P → R in DIAR1. 2 Publications
    VAR_007430
    Natural varianti136 – 1361M → I in DIAR1. 1 Publication
    VAR_066064
    Natural varianti204 – 2041Y → D in DIAR1. 1 Publication
    VAR_066065
    Natural varianti206 – 2061S → P in DIAR1. 1 Publication
    VAR_012777
    Natural varianti220 – 2201H → P in DIAR1. 2 Publications
    VAR_066066
    Natural varianti317 – 3171Missing in DIAR1. 2 Publications
    VAR_007432
    Natural varianti343 – 3431C → Y in DIAR1. 1 Publication
    VAR_066067
    Natural varianti344 – 3496FGIAMV → DA in DIAR1.
    VAR_066068
    Natural varianti379 – 3791G → A in DIAR1. 1 Publication
    VAR_066069
    Natural varianti398 – 3981S → F in DIAR1. 1 Publication
    Corresponds to variant rs143839547 [ dbSNP | Ensembl ].
    VAR_066070
    Natural varianti468 – 4681D → V in DIAR1. 1 Publication
    VAR_012778
    Natural varianti496 – 4961L → R in DIAR1. 1 Publication
    VAR_066071
    Natural varianti520 – 5201Y → C in DIAR1. 1 Publication
    VAR_066072
    Natural varianti521 – 5211K → N in DIAR1. 1 Publication
    VAR_066073
    Natural varianti527 – 5271Missing in DIAR1. 1 Publication
    VAR_007433
    Natural varianti544 – 5441I → N in DIAR1. 1 Publication
    VAR_066074
    Natural varianti652 – 6521D → N in DIAR1. 1 Publication
    VAR_066075

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi214700. phenotype.
    Orphaneti53689. Congenital chloride diarrhea.
    PharmGKBiPA35044.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 764764Chloride anion exchangerPRO_0000080161Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi153 – 1531N-linked (GlcNAc...)1 Publication
    Glycosylationi161 – 1611N-linked (GlcNAc...)1 Publication
    Glycosylationi165 – 1651N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP40879.
    PRIDEiP40879.

    PTM databases

    PhosphoSiteiP40879.

    Expressioni

    Developmental stagei

    Expression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon.

    Gene expression databases

    ArrayExpressiP40879.
    BgeeiP40879.
    CleanExiHS_SLC26A3.
    GenevestigatoriP40879.

    Organism-specific databases

    HPAiHPA036055.

    Interactioni

    Subunit structurei

    Interacts with CFTR, SLC26A6 and SLC9A3R1 By similarity. Interacts with PDZK1.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SLC9A3R2Q155995EBI-8542350,EBI-1149760

    Protein-protein interaction databases

    BioGridi108145. 1 interaction.
    IntActiP40879. 1 interaction.
    MINTiMINT-1787198.
    STRINGi9606.ENSP00000345873.

    Structurei

    3D structure databases

    ProteinModelPortaliP40879.
    SMRiP40879. Positions 645-718.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini146 – 17530ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei77 – 9721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 12021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei125 – 14521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei176 – 19621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei198 – 21821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei259 – 27921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei286 – 30621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei343 – 36321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei375 – 39521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei412 – 43221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei439 – 45921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei470 – 49021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei644 – 66421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei702 – 72221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini525 – 720196STASPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 STAS domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0659.
    HOGENOMiHOG000006546.
    HOVERGENiHBG000639.
    InParanoidiP40879.
    KOiK14078.
    OMAiYIVARPV.
    OrthoDBiEOG76T9QT.
    PhylomeDBiP40879.
    TreeFamiTF313784.

    Family and domain databases

    Gene3Di3.30.750.24. 2 hits.
    InterProiIPR018045. S04_transporter_CS.
    IPR002645. STAS_dom.
    IPR001902. SulP_transpt.
    IPR011547. Sulph_transpt.
    [Graphical view]
    PfamiPF01740. STAS. 1 hit.
    PF00916. Sulfate_transp. 1 hit.
    [Graphical view]
    SUPFAMiSSF52091. SSF52091. 2 hits.
    TIGRFAMsiTIGR00815. sulP. 1 hit.
    PROSITEiPS01130. SLC26A. 1 hit.
    PS50801. STAS. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P40879-1 [UniParc]FASTAAdd to Basket

    « Hide

    MIEPFGNQYI VARPVYSTNA FEENHKKTGR HHKTFLDHLK VCCSCSPQKA    50
    KRIVLSLFPI ASWLPAYRLK EWLLSDIVSG ISTGIVAVLQ GLAFALLVDI 100
    PPVYGLYASF FPAIIYLFFG TSRHISVGPF PILSMMVGLA VSGAVSKAVP 150
    DRNATTLGLP NNSNNSSLLD DERVRVAAAA SVTVLSGIIQ LAFGILRIGF 200
    VVIYLSESLI SGFTTAAAVH VLVSQLKFIF QLTVPSHTDP VSIFKVLYSV 250
    FSQIEKTNIA DLVTALIVLL VVSIVKEINQ RFKDKLPVPI PIEFIMTVIA 300
    AGVSYGCDFK NRFKVAVVGD MNPGFQPPIT PDVETFQNTV GDCFGIAMVA 350
    FAVAFSVASV YSLKYDYPLD GNQELIALGL GNIVCGVFRG FAGSTALSRS 400
    AVQESTGGKT QIAGLIGAII VLIVVLAIGF LLAPLQKSVL AALALGNLKG 450
    MLMQFAEIGR LWRKDKYDCL IWIMTFIFTI VLGLGLGLAA SVAFQLLTIV 500
    FRTQFPKCST LANIGRTNIY KNKKDYYDMY EPEGVKIFRC PSPIYFANIG 550
    FFRRKLIDAV GFSPLRILRK RNKALRKIRK LQKQGLLQVT PKGFICTVDT 600
    IKDSDEELDN NQIEVLDQPI NTTDLPFHID WNDDLPLNIE VPKISLHSLI 650
    LDFSAVSFLD VSSVRGLKSI LQEFIRIKVD VYIVGTDDDF IEKLNRYEFF 700
    DGEVKSSIFF LTIHDAVLHI LMKKDYSTSK FNPSQEKDGK IDFTINTNGG 750
    LRNRVYEVPV ETKF 764
    Length:764
    Mass (Da):84,505
    Last modified:February 1, 1995 - v1
    Checksum:i694C5BC2D4121F6D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681R → Q.
    Corresponds to variant rs10280704 [ dbSNP | Ensembl ].
    VAR_053660
    Natural varianti120 – 1201G → S in DIAR1. 2 Publications
    VAR_007428
    Natural varianti124 – 1241H → L in DIAR1. 2 Publications
    VAR_007429
    Natural varianti129 – 1291P → L in DIAR1. 1 Publication
    VAR_066062
    Natural varianti131 – 1311P → L in DIAR1. 1 Publication
    VAR_066063
    Natural varianti131 – 1311P → R in DIAR1. 2 Publications
    VAR_007430
    Natural varianti136 – 1361M → I in DIAR1. 1 Publication
    VAR_066064
    Natural varianti204 – 2041Y → D in DIAR1. 1 Publication
    VAR_066065
    Natural varianti206 – 2061S → P in DIAR1. 1 Publication
    VAR_012777
    Natural varianti220 – 2201H → P in DIAR1. 2 Publications
    VAR_066066
    Natural varianti307 – 3071C → W.1 Publication
    Corresponds to variant rs34407351 [ dbSNP | Ensembl ].
    VAR_007431
    Natural varianti317 – 3171Missing in DIAR1. 2 Publications
    VAR_007432
    Natural varianti343 – 3431C → Y in DIAR1. 1 Publication
    VAR_066067
    Natural varianti344 – 3496FGIAMV → DA in DIAR1.
    VAR_066068
    Natural varianti379 – 3791G → A in DIAR1. 1 Publication
    VAR_066069
    Natural varianti398 – 3981S → F in DIAR1. 1 Publication
    Corresponds to variant rs143839547 [ dbSNP | Ensembl ].
    VAR_066070
    Natural varianti468 – 4681D → V in DIAR1. 1 Publication
    VAR_012778
    Natural varianti496 – 4961L → R in DIAR1. 1 Publication
    VAR_066071
    Natural varianti520 – 5201Y → C in DIAR1. 1 Publication
    VAR_066072
    Natural varianti521 – 5211K → N in DIAR1. 1 Publication
    VAR_066073
    Natural varianti527 – 5271Missing in DIAR1. 1 Publication
    VAR_007433
    Natural varianti544 – 5441I → N in DIAR1. 1 Publication
    VAR_066074
    Natural varianti554 – 5541R → Q.
    Corresponds to variant rs2301635 [ dbSNP | Ensembl ].
    VAR_053661
    Natural varianti652 – 6521D → N in DIAR1. 1 Publication
    VAR_066075
    Natural varianti753 – 7531N → S.
    Corresponds to variant rs35342296 [ dbSNP | Ensembl ].
    VAR_053662

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L02785 mRNA. Translation: AAA58443.1.
    BC025671 mRNA. Translation: AAH25671.1.
    CCDSiCCDS5748.1.
    PIRiA47456.
    RefSeqiNP_000102.1. NM_000111.2.
    XP_006715936.1. XM_006715873.1.
    UniGeneiHs.1650.

    Genome annotation databases

    EnsembliENST00000340010; ENSP00000345873; ENSG00000091138.
    GeneIDi1811.
    KEGGihsa:1811.
    UCSCiuc003ver.2. human.

    Polymorphism databases

    DMDMi729367.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L02785 mRNA. Translation: AAA58443.1 .
    BC025671 mRNA. Translation: AAH25671.1 .
    CCDSi CCDS5748.1.
    PIRi A47456.
    RefSeqi NP_000102.1. NM_000111.2.
    XP_006715936.1. XM_006715873.1.
    UniGenei Hs.1650.

    3D structure databases

    ProteinModelPortali P40879.
    SMRi P40879. Positions 645-718.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108145. 1 interaction.
    IntActi P40879. 1 interaction.
    MINTi MINT-1787198.
    STRINGi 9606.ENSP00000345873.

    Protein family/group databases

    TCDBi 2.A.53.2.18. the sulfate permease (sulp) family.

    PTM databases

    PhosphoSitei P40879.

    Polymorphism databases

    DMDMi 729367.

    Proteomic databases

    PaxDbi P40879.
    PRIDEi P40879.

    Protocols and materials databases

    DNASUi 1811.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000340010 ; ENSP00000345873 ; ENSG00000091138 .
    GeneIDi 1811.
    KEGGi hsa:1811.
    UCSCi uc003ver.2. human.

    Organism-specific databases

    CTDi 1811.
    GeneCardsi GC07M107405.
    HGNCi HGNC:3018. SLC26A3.
    HPAi HPA036055.
    MIMi 126650. gene.
    214700. phenotype.
    neXtProti NX_P40879.
    Orphaneti 53689. Congenital chloride diarrhea.
    PharmGKBi PA35044.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0659.
    HOGENOMi HOG000006546.
    HOVERGENi HBG000639.
    InParanoidi P40879.
    KOi K14078.
    OMAi YIVARPV.
    OrthoDBi EOG76T9QT.
    PhylomeDBi P40879.
    TreeFami TF313784.

    Enzyme and pathway databases

    Reactomei REACT_19357. Multifunctional anion exchangers.

    Miscellaneous databases

    GeneWikii SLC26A3.
    GenomeRNAii 1811.
    NextBioi 7381.
    PROi P40879.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P40879.
    Bgeei P40879.
    CleanExi HS_SLC26A3.
    Genevestigatori P40879.

    Family and domain databases

    Gene3Di 3.30.750.24. 2 hits.
    InterProi IPR018045. S04_transporter_CS.
    IPR002645. STAS_dom.
    IPR001902. SulP_transpt.
    IPR011547. Sulph_transpt.
    [Graphical view ]
    Pfami PF01740. STAS. 1 hit.
    PF00916. Sulfate_transp. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52091. SSF52091. 2 hits.
    TIGRFAMsi TIGR00815. sulP. 1 hit.
    PROSITEi PS01130. SLC26A. 1 hit.
    PS50801. STAS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas."
      Schweinfest C.W., Henderson K.W., Suster S., Kondoh N., Papas T.S.
      Proc. Natl. Acad. Sci. U.S.A. 90:4166-4170(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Colon.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung.
    3. "Similarities between a soybean nodulin, Neurospora crassa sulphate permease II and a putative human tumour suppressor."
      Sandal N.N., Marcker K.A.
      Trends Biochem. Sci. 19:19-19(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: SIMILARITY TO SULFATE PERMEASES.
    4. "The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3-exchanger DRA in rabbit small intestinal mucosa."
      Rossmann H., Jacob P., Baisch S., Hassoun R., Meier J., Natour D., Yahya K., Yun C., Biber J., Lackner K.J., Fiehn W., Gregor M., Seidler U., Lamprecht G.
      Biochemistry 44:4477-4487(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PDZK1.
    5. "Role of N-glycosylation in cell surface expression and protection against proteolysis of the intestinal anion exchanger SLC26A3."
      Hayashi H., Yamashita Y.
      Am. J. Physiol. 302:C781-C795(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-153; ASN-161 AND ASN-165, SUBCELLULAR LOCATION.
    6. Cited for: VARIANTS DIAR1 LEU-124 AND VAL-317 DEL, VARIANT TRP-307.
    7. "Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait."
      Hoglund P., Auranen M., Socha J., Popinska K., Nazer H., Rajaram U., Al Sanie A., Al-Ghanim M., Holmberg C., de la Chapelle A., Kere J.
      Am. J. Hum. Genet. 63:760-768(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DIAR1 SER-120; LEU-124; ARG-131 AND ARG-496.
    8. "Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene."
      Hoeglund P., Haila S., Gustavson K.-H., Taipale M., Hannula K., Popinska K., Holmberg C., Socha J., de la Chapelle A., Kere J.
      Hum. Mutat. 11:321-327(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DIAR1 SER-120; ARG-131; VAL-317 DEL AND TYR-527 DEL.
    9. "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea."
      Hoeglund P., Sormaala M., Haila S., Socha J., Rajaram U., Scheurlen W., Sinaasappel M., de Jonge H., Holmberg C., Yoshikawa H., Kere J.
      Hum. Mutat. 18:233-242(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DIAR1 PRO-206 AND VAL-468.
    10. Cited for: VARIANTS DIAR1 CYS-520 AND ASN-652.
    11. "Update on SLC26A3 mutations in congenital chloride diarrhea."
      Wedenoja S., Pekansaari E., Hoglund P., Makela S., Holmberg C., Kere J.
      Hum. Mutat. 32:715-722(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DIAR1 LEU-129; LEU-131; ILE-136; ASP-204; PRO-220; TYR-343; 344-PHE--VAL-349 DELINS ASP-ALA; ALA-379; PHE-398; ASN-521 AND ASN-544.
    12. "Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea."
      Rodriguez-Herrera A., Navas-Lopez V.M., Redondo-Nevado J., Gutierrez G.
      J. Pediatr. Gastroenterol. Nutr. 52:106-110(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DIAR1 PRO-220.

    Entry informationi

    Entry nameiS26A3_HUMAN
    AccessioniPrimary (citable) accession number: P40879
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: February 1, 1995
    Last modified: October 1, 2014
    This is version 141 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3