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Q00597

- FANCC_HUMAN

UniProt

Q00597 - FANCC_HUMAN

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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

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 - 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ00597.
CleanExiHS_FANCC.
ExpressionAtlasiQ00597. baseline and differential.
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.
GeneTreeiENSGT00390000016390.
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

        10         20         30         40         50
MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE
60 70 80 90 100
ALKEMDSNTV IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK
110 120 130 140 150
EPQNSGQSKL NSWIQGVLSH ILSALRFDKE VALFTQGLGY APIDYYPGLL
160 170 180 190 200
KNMVLSLASE LRENHLNGFN TQRRMAPERV ASLSRVCVPL ITLTDVDPLV
210 220 230 240 250
EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV CLWLRHLPSL
260 270 280 290 300
EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC
310 320 330 340 350
ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM
360 370 380 390 400
VLLQDPQDIP RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF
410 420 430 440 450
GGWAEMVAEQ LLMSAAEPPT ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL
460 470 480 490 500
GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR APAQQLIRHL LLNFLLWAPG
510 520 530 540 550
GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES PRSEKLAREL

LKELRTQV
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000016390.
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

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

Gene expression databases

Bgeei Q00597.
CleanExi HS_FANCC.
ExpressionAtlasi Q00597. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 137 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