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Q00597

- FANCC_HUMAN

UniProt

Q00597 - FANCC_HUMAN

Protein

Fanconi anemia group C protein

Gene

FANCC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    Functioni

    DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. DNA repair Source: Reactome
    2. germ cell development Source: Ensembl
    3. myeloid cell homeostasis Source: Ensembl
    4. nucleotide-excision repair Source: Ensembl
    5. protein complex assembly Source: ProtInc
    6. removal of superoxide radicals Source: Ensembl

    Keywords - Biological processi

    DNA damage, DNA repair

    Enzyme and pathway databases

    ReactomeiREACT_18410. Fanconi Anemia pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fanconi anemia group C protein
    Short name:
    Protein FACC
    Gene namesi
    Name:FANCC
    Synonyms:FAC, FACC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:3584. FANCC.

    Subcellular locationi

    Nucleus. Cytoplasm
    Note: The major form is nuclear. The minor form is cytoplasmic.

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc
    2. cytosol Source: UniProtKB
    3. Fanconi anaemia nuclear complex Source: UniProtKB
    4. nucleoplasm Source: Reactome
    5. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Fanconi anemia complementation group C (FANCC) [MIM:227645]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi64 – 641F → A: No loss of protection from cross-linking agent-induced toxicity. No effect on IFNG-induced STAT1-binding. 1 Publication
    Mutagenesisi66 – 661T → A: No effect on protective function from mitomycin C-genotoxicity. 1 Publication
    Mutagenesisi249 – 2491S → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. 1 Publication
    Mutagenesisi251 – 2511E → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. 1 Publication
    Mutagenesisi529 – 5291T → A: No effect on protective function from mitomycin C-genotoxicity. 1 Publication
    Mutagenesisi531 – 5311Y → A: No effect on protective function from mitomycin C-genotoxicity. No effect on IFNG-induced STAT1-binding. 1 Publication

    Keywords - Diseasei

    Disease mutation, Fanconi anemia

    Organism-specific databases

    MIMi227645. phenotype.
    Orphaneti84. Fanconi anemia.
    PharmGKBiPA27997.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 558558Fanconi anemia group C proteinPRO_0000087184Add
    BLAST

    Proteomic databases

    MaxQBiQ00597.
    PaxDbiQ00597.
    PRIDEiQ00597.

    PTM databases

    PhosphoSiteiQ00597.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Developmental stagei

    Expression increases during S phase, is maximal at the G2/M transition, and declines during M phase (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ00597.
    BgeeiQ00597.
    CleanExiHS_FANCC.
    GenevestigatoriQ00597.

    Organism-specific databases

    HPAiCAB017793.

    Interactioni

    Subunit structurei

    Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. This complex may also include HSP70. The complex is not found in FA patients. Interacts with ZBTB32. Upon IFNG induction, interacts with STAT1. Interacts with CDK1. Interacts with EIF2AK2; interaction between FA variants and EIF2AK2 may lead to augmented EIF2AK2 activation and cell death.8 Publications

    Protein-protein interaction databases

    BioGridi108473. 37 interactions.
    DIPiDIP-32846N.
    IntActiQ00597. 7 interactions.
    MINTiMINT-110041.
    STRINGi9606.ENSP00000289081.

    Structurei

    3D structure databases

    ProteinModelPortaliQ00597.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG44530.
    HOGENOMiHOG000043097.
    HOVERGENiHBG051548.
    InParanoidiQ00597.
    KOiK10890.
    OMAiVCLWLRH.
    OrthoDBiEOG7RNK0K.
    PhylomeDBiQ00597.
    TreeFamiTF330803.

    Family and domain databases

    InterProiIPR000686. Fanconi.
    [Graphical view]
    PANTHERiPTHR16798. PTHR16798. 1 hit.
    PfamiPF02106. Fanconi_C. 1 hit.
    [Graphical view]
    PIRSFiPIRSF018417. FACC_protein. 1 hit.
    PRINTSiPR00494. FANCONICGENE.

    Sequencei

    Sequence statusi: Complete.

    Q00597-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE    50
    ALKEMDSNTV IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK 100
    EPQNSGQSKL NSWIQGVLSH ILSALRFDKE VALFTQGLGY APIDYYPGLL 150
    KNMVLSLASE LRENHLNGFN TQRRMAPERV ASLSRVCVPL ITLTDVDPLV 200
    EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV CLWLRHLPSL 250
    EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC 300
    ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM 350
    VLLQDPQDIP RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF 400
    GGWAEMVAEQ LLMSAAEPPT ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL 450
    GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR APAQQLIRHL LLNFLLWAPG 500
    GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES PRSEKLAREL 550
    LKELRTQV 558
    Length:558
    Mass (Da):63,429
    Last modified:October 1, 1996 - v1
    Checksum:iC9DDFFAC725D050C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti294 – 2941Missing in AAA53104. (PubMed:8490620)Curated
    Sequence conflicti438 – 4381Missing in CAA47348. (PubMed:1574115)Curated
    Sequence conflicti438 – 4381Missing in CAA47347. (PubMed:1574115)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti26 – 261S → F.1 Publication
    Corresponds to variant rs1800361 [ dbSNP | Ensembl ].
    VAR_005225
    Natural varianti80 – 801I → T.1 Publication
    Corresponds to variant rs4647419 [ dbSNP | Ensembl ].
    VAR_016339
    Natural varianti139 – 1391G → E.3 Publications
    Corresponds to variant rs1800362 [ dbSNP | Ensembl ].
    VAR_005226
    Natural varianti190 – 1901L → F.1 Publication
    Corresponds to variant rs1800364 [ dbSNP | Ensembl ].
    VAR_005227
    Natural varianti195 – 1951D → V in FA. 1 Publication
    Corresponds to variant rs1800365 [ dbSNP | Ensembl ].
    VAR_005228
    Natural varianti312 – 3121I → V.1 Publication
    Corresponds to variant rs1800366 [ dbSNP | Ensembl ].
    VAR_005229
    Natural varianti449 – 4491V → M.2 Publications
    Corresponds to variant rs1800367 [ dbSNP | Ensembl ].
    VAR_005230
    Natural varianti465 – 4651Q → R.1 Publication
    Corresponds to variant rs1800368 [ dbSNP | Ensembl ].
    VAR_005231
    Natural varianti496 – 4961L → R in FA. 1 Publication
    VAR_005232
    Natural varianti554 – 5541L → P in FA; loss of activity; loss of CDK1-binding and IFNG-induced STAT1-binding; abnormal EIF2AK2 activation and augmented cell death. 2 Publications
    VAR_005233

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66894 mRNA. Translation: CAA47348.1.
    X66893 mRNA. Translation: CAA47347.1.
    L02664
    , L02651, L02652, L02653, L02654, L02655, L02656, L02657, L02658, L02659, L02660, L02661, L02662, L02663 Genomic DNA. Translation: AAA53104.1.
    AY220878 Genomic DNA. Translation: AAO26042.1.
    AL157384, AL354893 Genomic DNA. Translation: CAH70886.1.
    AL354893, AL157384 Genomic DNA. Translation: CAI41329.1.
    CH471174 Genomic DNA. Translation: EAW92626.1.
    BC015748 mRNA. Translation: AAH15748.1.
    CCDSiCCDS35071.1.
    PIRiS21733.
    RefSeqiNP_000127.2. NM_000136.2.
    NP_001230672.1. NM_001243743.1.
    UniGeneiHs.494529.

    Genome annotation databases

    EnsembliENST00000289081; ENSP00000289081; ENSG00000158169.
    ENST00000375305; ENSP00000364454; ENSG00000158169.
    GeneIDi2176.
    KEGGihsa:2176.
    UCSCiuc004avh.3. human.

    Polymorphism databases

    DMDMi1706762.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Database
    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66894 mRNA. Translation: CAA47348.1 .
    X66893 mRNA. Translation: CAA47347.1 .
    L02664
    , L02651 , L02652 , L02653 , L02654 , L02655 , L02656 , L02657 , L02658 , L02659 , L02660 , L02661 , L02662 , L02663 Genomic DNA. Translation: AAA53104.1 .
    AY220878 Genomic DNA. Translation: AAO26042.1 .
    AL157384 , AL354893 Genomic DNA. Translation: CAH70886.1 .
    AL354893 , AL157384 Genomic DNA. Translation: CAI41329.1 .
    CH471174 Genomic DNA. Translation: EAW92626.1 .
    BC015748 mRNA. Translation: AAH15748.1 .
    CCDSi CCDS35071.1.
    PIRi S21733.
    RefSeqi NP_000127.2. NM_000136.2.
    NP_001230672.1. NM_001243743.1.
    UniGenei Hs.494529.

    3D structure databases

    ProteinModelPortali Q00597.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108473. 37 interactions.
    DIPi DIP-32846N.
    IntActi Q00597. 7 interactions.
    MINTi MINT-110041.
    STRINGi 9606.ENSP00000289081.

    PTM databases

    PhosphoSitei Q00597.

    Polymorphism databases

    DMDMi 1706762.

    Proteomic databases

    MaxQBi Q00597.
    PaxDbi Q00597.
    PRIDEi Q00597.

    Protocols and materials databases

    DNASUi 2176.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000289081 ; ENSP00000289081 ; ENSG00000158169 .
    ENST00000375305 ; ENSP00000364454 ; ENSG00000158169 .
    GeneIDi 2176.
    KEGGi hsa:2176.
    UCSCi uc004avh.3. human.

    Organism-specific databases

    CTDi 2176.
    GeneCardsi GC09M097861.
    GeneReviewsi FANCC.
    HGNCi HGNC:3584. FANCC.
    HPAi CAB017793.
    MIMi 227645. phenotype.
    613899. gene.
    neXtProti NX_Q00597.
    Orphaneti 84. Fanconi anemia.
    PharmGKBi PA27997.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44530.
    HOGENOMi HOG000043097.
    HOVERGENi HBG051548.
    InParanoidi Q00597.
    KOi K10890.
    OMAi VCLWLRH.
    OrthoDBi EOG7RNK0K.
    PhylomeDBi Q00597.
    TreeFami TF330803.

    Enzyme and pathway databases

    Reactomei REACT_18410. Fanconi Anemia pathway.

    Miscellaneous databases

    GeneWikii Fanconi_anemia,_complementation_group_C.
    GenomeRNAii 2176.
    NextBioi 8787.
    PROi Q00597.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q00597.
    Bgeei Q00597.
    CleanExi HS_FANCC.
    Genevestigatori Q00597.

    Family and domain databases

    InterProi IPR000686. Fanconi.
    [Graphical view ]
    PANTHERi PTHR16798. PTHR16798. 1 hit.
    Pfami PF02106. Fanconi_C. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF018417. FACC_protein. 1 hit.
    PRINTSi PR00494. FANCONICGENE.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of cDNAs for Fanconi's anaemia by functional complementation."
      Strathdee C.A., Gavish H., Shannon W.R., Buchwald M.
      Nature 356:763-767(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT FA PRO-554.
      Tissue: Lymphoid tissue.
    2. Cited for: SEQUENCE REVISION TO 179-192.
    3. "Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR."
      Gibson R.A., Buchwald M., Roberts R.G., Mathew C.G.
      Hum. Mol. Genet. 2:35-38(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. NIEHS SNPs program
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-80; GLU-139 AND MET-449.
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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: Colon.
    8. "The Fanconi anemia polypeptide FACC is localized to the cytoplasm."
      Yamashita T., Barber D.L., Zhu Y., Wu N., D'Andrea A.D.
      Proc. Natl. Acad. Sci. U.S.A. 91:6712-6716(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    9. "Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells."
      Youssoufian H.
      Proc. Natl. Acad. Sci. U.S.A. 91:7975-7979(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    10. "The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2."
      Kupfer G.M., Yamashita T., Naf D., Suliman A., Asano S., D'Andrea A.D.
      Blood 90:1047-1054(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CDK1, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, CHARACTERIZATION OF VARIANT FA PRO-554.
    11. "A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF."
      Hoatlin M.E., Zhi Y., Ball H., Silvey K., Melnick A., Stone S., Arai S., Hawe N., Owen G., Zelent A., Licht J.D.
      Blood 94:3737-3747(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ZBTB32.
    12. "The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality."
      Pang Q., Christianson T.A., Keeble W., Diaz J., Faulkner G.R., Reifsteck C., Olson S., Bagby G.C.
      Blood 98:1392-1401(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH STAT1, CHARACTERIZATION OF VARIANT FA PRO-554, MUTAGENESIS OF PHE-64; THR-66; SER-249; GLU-251; THR-529 AND TYR-531.
    13. "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."
      Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.
      Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCE; FANCF; FANCG AND FANCL.
    14. "The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR)."
      Zhang X., Li J., Sejas D.P., Rathbun K.R., Bagby G.C., Pang Q.
      J. Biol. Chem. 279:43910-43919(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH EIF2AK2; FANCA; FANCG AND HSP70, CHARACTERIZATION OF VARIANT FA PRO-554.
    15. Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCE; FANCF; FANCG AND FANCL.
    16. "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
      Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
      Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCE; FANCF; FANCG; FANCL AND FANCM.
    17. "Regulation of Rev1 by the Fanconi anemia core complex."
      Kim H., Yang K., Dejsuphong D., D'Andrea A.D.
      Nat. Struct. Mol. Biol. 19:164-170(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE FA COMPLEX.
    18. "A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein."
      Gavish H., Dos Santos C.C., Buchwald M.
      Hum. Mol. Genet. 2:123-126(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT FA PRO-554.
    19. "A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews."
      Whitney M.A., Saito H., Jakops P.M., Gibson R.A., Moses R.E., Grompe M.
      Nat. Genet. 4:202-205(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLU-139.
    20. "Mutation analysis of the Fanconi anemia gene FACC."
      Verlander P.C., Lin J.D., Udono M.U., Zhang Q., Gibson R.A., Mathew C.G., Auerbach A.D.
      Am. J. Hum. Genet. 54:595-601(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FA VAL-195 AND PRO-554, VARIANTS PHE-26 AND GLU-139.
    21. Cited for: VARIANTS PHE-190; VAL-312; MET-449 AND ARG-465, VARIANT FA ARG-496.

    Entry informationi

    Entry nameiFANCC_HUMAN
    AccessioniPrimary (citable) accession number: Q00597
    Secondary accession number(s): B1ALR8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 135 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 9
      Human chromosome 9: 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

    External Data

    Dasty 3