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Q8NER5

- ACV1C_HUMAN

UniProt

Q8NER5 - ACV1C_HUMAN

Protein

Activin receptor type-1C

Gene

ACVR1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis.2 Publications

    Catalytic activityi

    ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

    Cofactori

    Magnesium or manganese.Curated

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei222 – 2221ATPBy similarityPROSITE-ProRule annotation
    Active sitei323 – 3231Proton acceptorBy similarityPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi201 – 2099ATPBy similarityPROSITE-ProRule annotation

    GO - Molecular functioni

    1. activin receptor activity, type I Source: UniProtKB
    2. ATP binding Source: UniProtKB-KW
    3. growth factor binding Source: UniProt
    4. metal ion binding Source: UniProtKB
    5. nodal binding Source: BHF-UCL
    6. receptor signaling protein serine/threonine kinase activity Source: InterPro
    7. transforming growth factor beta-activated receptor activity Source: InterPro

    GO - Biological processi

    1. apoptotic nuclear changes Source: UniProtKB
    2. cell differentiation Source: UniProtKB
    3. lipid storage Source: Ensembl
    4. negative regulation of chorionic trophoblast cell proliferation Source: BHF-UCL
    5. negative regulation of insulin secretion Source: Ensembl
    6. negative regulation of trophoblast cell migration Source: BHF-UCL
    7. nodal signaling pathway Source: BHF-UCL
    8. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: BHF-UCL
    9. protein phosphorylation Source: UniProtKB
    10. response to dietary excess Source: Ensembl
    11. response to glucose Source: Ensembl
    12. response to insulin Source: Ensembl

    Keywords - Molecular functioni

    Kinase, Receptor, Serine/threonine-protein kinase, Transferase

    Keywords - Biological processi

    Apoptosis

    Keywords - Ligandi

    ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.11.30. 2681.
    ReactomeiREACT_111057. Signaling by NODAL.
    REACT_111059. Regulation of signaling by NODAL.
    REACT_150238. Signaling by Activin.
    SignaLinkiQ8NER5.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Activin receptor type-1C (EC:2.7.11.30)
    Alternative name(s):
    Activin receptor type IC
    Short name:
    ACTR-IC
    Activin receptor-like kinase 7
    Short name:
    ALK-7
    Gene namesi
    Name:ACVR1CImported
    Synonyms:ALK71 Publication
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:18123. ACVR1C.

    Subcellular locationi

    Membrane 1 Publication; Single-pass type I membrane protein 1 Publication

    GO - Cellular componenti

    1. activin receptor complex Source: UniProtKB
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi194 – 1941T → D: Pro-apoptotic. 1 Publication
    Mutagenesisi222 – 2221K → R: Loss of response to NODAL and SMAD2 phosphorylation. 2 Publications

    Organism-specific databases

    PharmGKBiPA134908988.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 493473Activin receptor type-1CPRO_0000042628Add
    BLAST

    Proteomic databases

    PaxDbiQ8NER5.
    PRIDEiQ8NER5.

    PTM databases

    PhosphoSiteiQ8NER5.

    Expressioni

    Tissue specificityi

    Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the placenta throughout pregnancy.2 Publications

    Gene expression databases

    ArrayExpressiQ8NER5.
    BgeeiQ8NER5.
    CleanExiHS_ACVR1C.
    GenevestigatoriQ8NER5.

    Organism-specific databases

    HPAiHPA007982.
    HPA011933.

    Interactioni

    Subunit structurei

    Binds the type 2 receptor protein ACVR2A.By similarity

    Protein-protein interaction databases

    BioGridi126232. 2 interactions.
    IntActiQ8NER5. 3 interactions.
    STRINGi9606.ENSP00000243349.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NER5.
    SMRiQ8NER5. Positions 25-97, 190-485.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 11392ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini135 – 493359CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei114 – 13421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini165 – 19430GSPROSITE-ProRule annotationAdd
    BLAST
    Domaini195 – 485291Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 GS domain.PROSITE-ProRule annotation
    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000230587.
    HOVERGENiHBG054502.
    InParanoidiQ8NER5.
    KOiK13568.
    OMAiWACQGRQ.
    OrthoDBiEOG7Q8CN3.
    PhylomeDBiQ8NER5.
    TreeFamiTF314724.

    Family and domain databases

    InterProiIPR000472. Activin_rcpt.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR008271. Ser/Thr_kinase_AS.
    IPR003605. TGF_beta_rcpt_GS.
    IPR000333. TGFB_receptor.
    [Graphical view]
    PANTHERiPTHR23255. PTHR23255. 1 hit.
    PfamiPF01064. Activin_recp. 1 hit.
    PF00069. Pkinase. 1 hit.
    PF08515. TGF_beta_GS. 1 hit.
    [Graphical view]
    SMARTiSM00467. GS. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS51256. GS. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q8NER5-1) [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

    MTRALCSALR QALLLLAAAA ELSPGLKCVC LLCDSSNFTC QTEGACWASV    50
    MLTNGKEQVI KSCVSLPELN AQVFCHSSNN VTKTECCFTD FCNNITLHLP 100
    TASPNAPKLG PMELAIIITV PVCLLSIAAM LTVWACQGRQ CSYRKKKRPN 150
    VEEPLSECNL VNAGKTLKDL IYDVTASGSG SGLPLLVQRT IARTIVLQEI 200
    VGKGRFGEVW HGRWCGEDVA VKIFSSRDER SWFREAEIYQ TVMLRHENIL 250
    GFIAADNKDN GTWTQLWLVS EYHEQGSLYD YLNRNIVTVA GMIKLALSIA 300
    SGLAHLHMEI VGTQGKPAIA HRDIKSKNIL VKKCETCAIA DLGLAVKHDS 350
    ILNTIDIPQN PKVGTKRYMA PEMLDDTMNV NIFESFKRAD IYSVGLVYWE 400
    IARRCSVGGI VEEYQLPYYD MVPSDPSIEE MRKVVCDQKF RPSIPNQWQS 450
    CEALRVMGRI MRECWYANGA ARLTALRIKK TISQLCVKED CKA 493
    Length:493
    Mass (Da):54,871
    Last modified:October 1, 2002 - v1
    Checksum:i5A10F259679204CB
    GO
    Isoform 21 Publication (identifier: Q8NER5-2) [UniParc]FASTAAdd to Basket

    Also known as: B1 Publication

    , soluble B1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         102-258: Missing.

    Show »
    Length:336
    Mass (Da):37,461
    Checksum:i9F2832F46C7E997C
    GO
    Isoform 31 Publication (identifier: Q8NER5-3) [UniParc]FASTAAdd to Basket

    Also known as: A1 Publication

    , soluble A1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         102-181: Missing.

    Show »
    Length:413
    Mass (Da):46,357
    Checksum:i1B34129E0CE1B2C2
    GO
    Isoform 41 Publication (identifier: Q8NER5-4) [UniParc]FASTAAdd to Basket

    Also known as: Truncated1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: Missing.

    Show »
    Length:443
    Mass (Da):49,684
    Checksum:iBB1AEE54E0187E02
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti231 – 2311S → Y in AAH22530. (PubMed:15489334)Curated
    Sequence conflicti289 – 2891V → M in AAH22530. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti195 – 1951I → T.1 Publication
    Corresponds to variant rs56188432 [ dbSNP | Ensembl ].
    VAR_041407
    Natural varianti216 – 2161G → R.1 Publication
    VAR_041408
    Natural varianti267 – 2671W → R in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication
    VAR_041409
    Natural varianti355 – 3551I → V.1 Publication
    Corresponds to variant rs35500979 [ dbSNP | Ensembl ].
    VAR_041410
    Natural varianti482 – 4821I → V.1 Publication
    Corresponds to variant rs7594480 [ dbSNP | Ensembl ].
    VAR_041411

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5050Missing in isoform 4. 1 PublicationVSP_051840Add
    BLAST
    Alternative sequencei102 – 258157Missing in isoform 2. 1 PublicationVSP_051841Add
    BLAST
    Alternative sequencei102 – 18180Missing in isoform 3. 1 PublicationVSP_051842Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY127050 mRNA. Translation: AAM93495.1.
    AF525679 mRNA. Translation: AAP21993.1.
    AF525680 mRNA. Translation: AAP21994.1.
    AF525681 mRNA. Translation: AAP21995.1.
    AC019186 Genomic DNA. No translation available.
    AC079750 Genomic DNA. Translation: AAX88951.1.
    BC022530 mRNA. Translation: AAH22530.1.
    CCDSiCCDS2205.1. [Q8NER5-1]
    CCDS46432.1. [Q8NER5-2]
    CCDS46433.1. [Q8NER5-3]
    CCDS46434.1. [Q8NER5-4]
    RefSeqiNP_001104501.1. NM_001111031.1. [Q8NER5-4]
    NP_001104502.1. NM_001111032.1. [Q8NER5-3]
    NP_001104503.1. NM_001111033.1. [Q8NER5-2]
    NP_660302.2. NM_145259.2. [Q8NER5-1]
    UniGeneiHs.562901.

    Genome annotation databases

    EnsembliENST00000243349; ENSP00000243349; ENSG00000123612. [Q8NER5-1]
    ENST00000335450; ENSP00000335178; ENSG00000123612. [Q8NER5-3]
    ENST00000348328; ENSP00000335139; ENSG00000123612. [Q8NER5-2]
    ENST00000409680; ENSP00000387168; ENSG00000123612. [Q8NER5-4]
    GeneIDi130399.
    KEGGihsa:130399.
    UCSCiuc002tzk.4. human. [Q8NER5-1]
    uc002tzl.4. human. [Q8NER5-3]
    uc010fof.3. human. [Q8NER5-2]

    Polymorphism databases

    DMDMi74762565.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY127050 mRNA. Translation: AAM93495.1 .
    AF525679 mRNA. Translation: AAP21993.1 .
    AF525680 mRNA. Translation: AAP21994.1 .
    AF525681 mRNA. Translation: AAP21995.1 .
    AC019186 Genomic DNA. No translation available.
    AC079750 Genomic DNA. Translation: AAX88951.1 .
    BC022530 mRNA. Translation: AAH22530.1 .
    CCDSi CCDS2205.1. [Q8NER5-1 ]
    CCDS46432.1. [Q8NER5-2 ]
    CCDS46433.1. [Q8NER5-3 ]
    CCDS46434.1. [Q8NER5-4 ]
    RefSeqi NP_001104501.1. NM_001111031.1. [Q8NER5-4 ]
    NP_001104502.1. NM_001111032.1. [Q8NER5-3 ]
    NP_001104503.1. NM_001111033.1. [Q8NER5-2 ]
    NP_660302.2. NM_145259.2. [Q8NER5-1 ]
    UniGenei Hs.562901.

    3D structure databases

    ProteinModelPortali Q8NER5.
    SMRi Q8NER5. Positions 25-97, 190-485.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126232. 2 interactions.
    IntActi Q8NER5. 3 interactions.
    STRINGi 9606.ENSP00000243349.

    Chemistry

    ChEMBLi CHEMBL5642.

    PTM databases

    PhosphoSitei Q8NER5.

    Polymorphism databases

    DMDMi 74762565.

    Proteomic databases

    PaxDbi Q8NER5.
    PRIDEi Q8NER5.

    Protocols and materials databases

    DNASUi 130399.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000243349 ; ENSP00000243349 ; ENSG00000123612 . [Q8NER5-1 ]
    ENST00000335450 ; ENSP00000335178 ; ENSG00000123612 . [Q8NER5-3 ]
    ENST00000348328 ; ENSP00000335139 ; ENSG00000123612 . [Q8NER5-2 ]
    ENST00000409680 ; ENSP00000387168 ; ENSG00000123612 . [Q8NER5-4 ]
    GeneIDi 130399.
    KEGGi hsa:130399.
    UCSCi uc002tzk.4. human. [Q8NER5-1 ]
    uc002tzl.4. human. [Q8NER5-3 ]
    uc010fof.3. human. [Q8NER5-2 ]

    Organism-specific databases

    CTDi 130399.
    GeneCardsi GC02M158352.
    HGNCi HGNC:18123. ACVR1C.
    HPAi HPA007982.
    HPA011933.
    MIMi 608981. gene.
    neXtProti NX_Q8NER5.
    PharmGKBi PA134908988.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000230587.
    HOVERGENi HBG054502.
    InParanoidi Q8NER5.
    KOi K13568.
    OMAi WACQGRQ.
    OrthoDBi EOG7Q8CN3.
    PhylomeDBi Q8NER5.
    TreeFami TF314724.

    Enzyme and pathway databases

    BRENDAi 2.7.11.30. 2681.
    Reactomei REACT_111057. Signaling by NODAL.
    REACT_111059. Regulation of signaling by NODAL.
    REACT_150238. Signaling by Activin.
    SignaLinki Q8NER5.

    Miscellaneous databases

    GeneWikii ACVR1C.
    GenomeRNAii 130399.
    NextBioi 82739.
    PROi Q8NER5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NER5.
    Bgeei Q8NER5.
    CleanExi HS_ACVR1C.
    Genevestigatori Q8NER5.

    Family and domain databases

    InterProi IPR000472. Activin_rcpt.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR008271. Ser/Thr_kinase_AS.
    IPR003605. TGF_beta_rcpt_GS.
    IPR000333. TGFB_receptor.
    [Graphical view ]
    PANTHERi PTHR23255. PTHR23255. 1 hit.
    Pfami PF01064. Activin_recp. 1 hit.
    PF00069. Pkinase. 1 hit.
    PF08515. TGF_beta_GS. 1 hit.
    [Graphical view ]
    SMARTi SM00467. GS. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS51256. GS. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C)."
      Bondestam J., Huotari M.-A., Moren A., Ustinov J., Kaivo-Oja N., Kallio J., Horelli-Kuitunen N., Aaltonen J., Fujii M., Moustakas A., Ten Dijke P., Otonkoski T., Ritvos O.
      Cytogenet. Cell Genet. 95:157-162(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, MUTAGENESIS OF LYS-222.
      Tissue: Brain1 Publication.
    2. "Identification of novel isoforms of activin receptor-like kinase 7 (ALK7) generated by alternative splicing and expression of ALK7 and its ligand, Nodal, in human placenta."
      Roberts H.J., Hu S., Qiu Q., Leung P.C.K., Caniggia I., Gruslin A., Tsang B., Peng C.
      Biol. Reprod. 68:1719-1726(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: PlacentaImported.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 1).
      Tissue: BrainImported.
    5. "Nodal induces apoptosis and inhibits proliferation in human epithelial ovarian cancer cells via activin receptor-like kinase 7."
      Xu G., Zhong Y., Munir S., Yang B.B., Tsang B.K., Peng C.
      J. Clin. Endocrinol. Metab. 89:5523-5534(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF THR-194 AND LYS-222.
    6. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-195; ARG-216; ARG-267; VAL-355 AND VAL-482.

    Entry informationi

    Entry nameiACV1C_HUMAN
    AccessioniPrimary (citable) accession number: Q8NER5
    Secondary accession number(s): Q4ZFZ8
    , Q86UL1, Q86UL2, Q8TBG2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2005
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 121 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 2
      Human chromosome 2: 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. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3