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P48165

- CXA8_HUMAN

UniProt

P48165 - CXA8_HUMAN

Protein

Gap junction alpha-8 protein

Gene

GJA8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

    GO - Molecular functioni

    1. channel activity Source: ProtInc

    GO - Biological processi

    1. cell-cell signaling Source: Ensembl
    2. lens development in camera-type eye Source: Ensembl
    3. protein homooligomerization Source: Ensembl
    4. transmembrane transport Source: GOC
    5. transport Source: ProtInc
    6. visual perception Source: ProtInc

    Enzyme and pathway databases

    ReactomeiREACT_9509. Gap junction assembly.

    Protein family/group databases

    TCDBi1.A.24.1.5. the gap junction-forming connexin (connexin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gap junction alpha-8 protein
    Alternative name(s):
    Connexin-50
    Short name:
    Cx50
    Lens fiber protein MP70
    Gene namesi
    Name:GJA8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:4281. GJA8.

    Subcellular locationi

    GO - Cellular componenti

    1. connexon complex Source: ProtInc
    2. integral component of plasma membrane Source: ProtInc

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cataract 1, multiple types (CTRCT1) [MIM:116200]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.11 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti23 – 231R → T in CTRCT1; nuclear progressive cataract. 1 Publication
    VAR_038797
    Natural varianti44 – 441V → E in CTRCT1; cataract with microcornea. 1 Publication
    VAR_038798
    Natural varianti47 – 471D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 Publications
    VAR_069579
    Natural varianti48 – 481E → K in CTRCT1; zonular pulverulent. 1 Publication
    VAR_038799
    Natural varianti64 – 641V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications
    VAR_037642
    Natural varianti67 – 671D → G in CTRCT1. 1 Publication
    VAR_070021
    Natural varianti76 – 761R → C in CTRCT1. 1 Publication
    VAR_070022
    Natural varianti88 – 881P → S in CTRCT1; zonular pulverulent. 1 Publication
    VAR_002005
    Natural varianti198 – 1981R → Q in CTRCT1; cataract with microcornea. 1 Publication
    VAR_038800

    Keywords - Diseasei

    Cataract, Disease mutation

    Organism-specific databases

    MIMi116200. phenotype.
    Orphaneti1377. Cataract-microcornea syndrome.
    98984. Pulverulent cataract.
    PharmGKBiPA28692.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 433432Gap junction alpha-8 proteinPRO_0000057830Add
    BLAST

    Proteomic databases

    PaxDbiP48165.
    PRIDEiP48165.

    PTM databases

    PhosphoSiteiP48165.

    Expressioni

    Tissue specificityi

    Eye lens.

    Gene expression databases

    BgeeiP48165.
    CleanExiHS_GJA8.
    GenevestigatoriP48165.

    Interactioni

    Subunit structurei

    A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels.

    Protein-protein interaction databases

    BioGridi108970. 1 interaction.
    STRINGi9606.ENSP00000240986.

    Structurei

    3D structure databases

    ProteinModelPortaliP48165.
    SMRiP48165. Positions 3-227.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 2322CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 7630ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini100 – 15051CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini174 – 20431ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini228 – 433206CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei24 – 4623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei77 – 9923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei151 – 17323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei205 – 22723HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG299365.
    HOGENOMiHOG000231127.
    HOVERGENiHBG009576.
    InParanoidiP48165.
    KOiK07617.
    OMAiKPFSQFE.
    OrthoDBiEOG7P2XSS.
    PhylomeDBiP48165.
    TreeFamiTF329606.

    Family and domain databases

    InterProiIPR000500. Connexin.
    IPR002266. Connexin50.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view]
    PANTHERiPTHR11984. PTHR11984. 1 hit.
    PfamiPF00029. Connexin. 1 hit.
    PF03509. Connexin50. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view]
    PRINTSiPR00206. CONNEXIN.
    PR01137. CONNEXINA8.
    SMARTiSM00037. CNX. 1 hit.
    SM01089. Connexin_CCC. 1 hit.
    [Graphical view]
    PROSITEiPS00407. CONNEXINS_1. 1 hit.
    PS00408. CONNEXINS_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P48165-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGDWSFLGNI LEEVNEHSTV IGRVWLTVLF IFRILILGTA AEFVWGDEQS    50
    DFVCNTQQPG CENVCYDEAF PISHIRLWVL QIIFVSTPSL MYVGHAVHYV 100
    RMEEKRKSRE AEELGQQAGT NGGPDQGSVK KSSGSKGTKK FRLEGTLLRT 150
    YICHIIFKTL FEVGFIVGHY FLYGFRILPL YRCSRWPCPN VVDCFVSRPT 200
    EKTIFILFML SVASVSLFLN VMELGHLGLK GIRSALKRPV EQPLGEIPEK 250
    SLHSIAVSSI QKAKGYQLLE EEKIVSHYFP LTEVGMVETS PLPAKPFNQF 300
    EEKISTGPLG DLSRGYQETL PSYAQVGAQE VEGEGPPAEE GAEPEVGEKK 350
    EEAERLTTEE QEKVAVPEGE KVETPGVDKE GEKEEPQSEK VSKQGLPAEK 400
    TPSLCPELTT DDARPLSRLS KASSRARSDD LTV 433
    Length:433
    Mass (Da):48,229
    Last modified:January 23, 2007 - v3
    Checksum:iD2BF6CD1C8768636
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti110 – 1112EA → D in AAA77062. (PubMed:7796604)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti23 – 231R → T in CTRCT1; nuclear progressive cataract. 1 Publication
    VAR_038797
    Natural varianti44 – 441V → E in CTRCT1; cataract with microcornea. 1 Publication
    VAR_038798
    Natural varianti47 – 471D → N in CTRCT1; incomplete penetrance; results in loss of function. 3 Publications
    VAR_069579
    Natural varianti48 – 481E → K in CTRCT1; zonular pulverulent. 1 Publication
    VAR_038799
    Natural varianti64 – 641V → G in CTRCT1; zonular pulverulent and nuclear progressive cataract. 2 Publications
    VAR_037642
    Natural varianti67 – 671D → G in CTRCT1. 1 Publication
    VAR_070021
    Natural varianti76 – 761R → C in CTRCT1. 1 Publication
    VAR_070022
    Natural varianti88 – 881P → S in CTRCT1; zonular pulverulent. 1 Publication
    VAR_002005
    Natural varianti198 – 1981R → Q in CTRCT1; cataract with microcornea. 1 Publication
    VAR_038800
    Natural varianti247 – 2471I → M Neutral polymorphism originally found in a family with cataract; does not affect gap junctions formation and gap junctional currents. 3 Publications
    Corresponds to variant rs80358202 [ dbSNP | Ensembl ].
    VAR_038801

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U34802 Genomic DNA. Translation: AAA77062.1.
    AF217524 Genomic DNA. Translation: AAF32309.1.
    EF672108 Genomic DNA. Translation: ABS11172.1.
    AL445591 Genomic DNA. Translation: CAH72387.1.
    CCDSiCCDS30834.1.
    PIRiI39176.
    RefSeqiNP_005258.2. NM_005267.4.
    UniGeneiHs.632441.

    Genome annotation databases

    EnsembliENST00000369235; ENSP00000358238; ENSG00000121634.
    GeneIDi2703.
    KEGGihsa:2703.
    UCSCiuc001epu.2. human.

    Polymorphism databases

    DMDMi13124697.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Eye disease Gap junction protein, alpha 8 (GJA8)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U34802 Genomic DNA. Translation: AAA77062.1 .
    AF217524 Genomic DNA. Translation: AAF32309.1 .
    EF672108 Genomic DNA. Translation: ABS11172.1 .
    AL445591 Genomic DNA. Translation: CAH72387.1 .
    CCDSi CCDS30834.1.
    PIRi I39176.
    RefSeqi NP_005258.2. NM_005267.4.
    UniGenei Hs.632441.

    3D structure databases

    ProteinModelPortali P48165.
    SMRi P48165. Positions 3-227.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108970. 1 interaction.
    STRINGi 9606.ENSP00000240986.

    Chemistry

    GuidetoPHARMACOLOGYi 732.

    Protein family/group databases

    TCDBi 1.A.24.1.5. the gap junction-forming connexin (connexin) family.

    PTM databases

    PhosphoSitei P48165.

    Polymorphism databases

    DMDMi 13124697.

    Proteomic databases

    PaxDbi P48165.
    PRIDEi P48165.

    Protocols and materials databases

    DNASUi 2703.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369235 ; ENSP00000358238 ; ENSG00000121634 .
    GeneIDi 2703.
    KEGGi hsa:2703.
    UCSCi uc001epu.2. human.

    Organism-specific databases

    CTDi 2703.
    GeneCardsi GC01P147374.
    HGNCi HGNC:4281. GJA8.
    MIMi 116200. phenotype.
    600897. gene.
    neXtProti NX_P48165.
    Orphaneti 1377. Cataract-microcornea syndrome.
    98984. Pulverulent cataract.
    PharmGKBi PA28692.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG299365.
    HOGENOMi HOG000231127.
    HOVERGENi HBG009576.
    InParanoidi P48165.
    KOi K07617.
    OMAi KPFSQFE.
    OrthoDBi EOG7P2XSS.
    PhylomeDBi P48165.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GeneWikii GJA8.
    GenomeRNAii 2703.
    NextBioi 10688.
    PROi P48165.
    SOURCEi Search...

    Gene expression databases

    Bgeei P48165.
    CleanExi HS_GJA8.
    Genevestigatori P48165.

    Family and domain databases

    InterProi IPR000500. Connexin.
    IPR002266. Connexin50.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view ]
    PANTHERi PTHR11984. PTHR11984. 1 hit.
    Pfami PF00029. Connexin. 1 hit.
    PF03509. Connexin50. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view ]
    PRINTSi PR00206. CONNEXIN.
    PR01137. CONNEXINA8.
    SMARTi SM00037. CNX. 1 hit.
    SM01089. Connexin_CCC. 1 hit.
    [Graphical view ]
    PROSITEi PS00407. CONNEXINS_1. 1 hit.
    PS00408. CONNEXINS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping."
      Church R.L., Wang J.-H., Steele E.
      Curr. Eye Res. 14:215-221(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Lens.
    2. Erratum
      Church R.L., Wang J.-H., Steele E.
      Curr. Eye Res. 14:979-981(1995) [PubMed] [Europe PMC] [Abstract]
    3. Mackay D., Shiels A.
      Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family in the Northeast of China."
      Zheng J.Q., Ma Z.W., Sun H.M., Lin Y., Liu P., Fu S.B., Liu S.W.
      Submitted (JUN-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CTRCT1 GLY-64.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q."
      Shiels A., Mackay D., Ionides A., Berry V., Moore A., Bhattacharya S.
      Am. J. Hum. Genet. 62:526-532(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CTRCT1 SER-88.
    7. "Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin."
      Berry V., Mackay D., Khaliq S., Francis P.J., Hameed A., Anwar K., Mehdi S.Q., Newbold R.J., Ionides A., Shiels A., Moore T., Bhattacharya S.S.
      Hum. Genet. 105:168-170(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CTRCT1 LYS-48.
    8. "Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract."
      Polyakov A.V., Shagina I.A., Khlebnikova O.V., Evgrafov O.V.
      Clin. Genet. 60:476-478(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MET-247, INVOLVEMENT IN CTRCT1.
    9. "A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract."
      Willoughby C.E., Arab S., Gandhi R., Zeinali S., Arab S., Luk D., Billingsley G., Munier F.L., Heon E.
      J. Med. Genet. 40:E124-E124(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CTRCT1 THR-23.
    10. "Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract."
      Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M., Sun H.M.
      Br. J. Ophthalmol. 89:1535-1537(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CTRCT1 GLY-64.
    11. Erratum
      Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M., Sun H.M.
      Br. J. Ophthalmol. 90:125-125(2006)
    12. "Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea."
      Devi R.R., Vijayalakshmi P.
      Mol. Vis. 12:190-195(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTRCT1 GLU-44 AND GLN-198.
    13. "A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts."
      Arora A., Minogue P.J., Liu X., Addison P.K., Russel-Eggitt I., Webster A.R., Hunt D.M., Ebihara L., Beyer E.C., Berthoud V.M., Moore A.T.
      J. Med. Genet. 45:155-160(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CTRCT1 ASN-47, CHARACTERIZATION OF VARIANT CTRCT1 ASN-47.
    14. "The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation."
      Graw J., Schmidt W., Minogue P.J., Rodriguez J., Tong J.J., Klopp N., Illig T., Ebihara L., Berthoud V.M., Beyer E.C.
      Mol. Vis. 15:1881-1885(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MET-247, CHARACTERIZATION OF VARIANT MET-247.
    15. "Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract."
      Wang L., Luo Y., Wen W., Zhang S., Lu Y.
      Mol. Vis. 17:2380-2385(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CTRCT1 ASN-47.
    16. "Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract."
      He W., Li X., Chen J., Xu L., Zhang F., Dai Q., Cui H., Wang D.M., Yu J., Hu S., Lu S.
      Ophthalmic Genet. 32:48-53(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CTRCT1 ASN-47, CHARACTERIZATION OF VARIANT CTRCT1 ASN-47.
    17. "Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."
      Reis L.M., Tyler R.C., Muheisen S., Raggio V., Salviati L., Han D.P., Costakos D., Yonath H., Hall S., Power P., Semina E.V.
      Hum. Genet. 132:761-770(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTRCT1 GLY-67 AND CYS-76, VARIANT MET-247.

    Entry informationi

    Entry nameiCXA8_HUMAN
    AccessioniPrimary (citable) accession number: P48165
    Secondary accession number(s): A7L5M5, Q5VVN9, Q9NP25
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 136 of the entry and version 3 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 1
      Human chromosome 1: 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