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Aliases for FAM175A Gene

Aliases for FAM175A Gene

  • Family With Sequence Similarity 175, Member A 2 3
  • CCDC98 3 4 6
  • ABRA1 3 4 6
  • Coiled-Coil Domain-Containing Protein 98 3 4
  • Coiled-Coil Domain Containing 98 2 3
  • Abraxas Protein 2 3
  • BRCA1-A Complex Subunit Abraxas 3
  • Protein FAM175A 4
  • ABRAXAS 6

External Ids for FAM175A Gene

Previous Symbols for FAM175A Gene

  • CCDC98

Summaries for FAM175A Gene

GeneCards Summary for FAM175A Gene

FAM175A (Family With Sequence Similarity 175, Member A) is a Protein Coding gene. Diseases associated with FAM175A include breast cancer and familial breast cancer. GO annotations related to this gene include polyubiquitin binding. An important paralog of this gene is FAM175B.

UniProtKB/Swiss-Prot for FAM175A Gene

  • Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM175A Gene

Genomics for FAM175A Gene

Genomic Location for FAM175A Gene

Start:
83,459,517 bp from pter
End:
83,523,348 bp from pter
Size:
63,832 bases
Orientation:
Minus strand

Genomic View for FAM175A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM175A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM175A Gene

Regulatory Elements for FAM175A Gene

Proteins for FAM175A Gene

  • Protein details for FAM175A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWZ7-F175A_HUMAN
    Recommended name:
    BRCA1-A complex subunit Abraxas
    Protein Accession:
    Q6UWZ7
    Secondary Accessions:
    • A5JJ07
    • Q9H8I1
    • Q9H9N4

    Protein attributes for FAM175A Gene

    Size:
    409 amino acids
    Molecular mass:
    46663 Da
    Quaternary structure:
    • Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the complex, interacts directly with UIMC1/RAP80, BRCC3/BRCC36 and BRE/BRCC45. Interacts directly (when phosphorylated at Ser-406) with BRCA1. Binds polyubiquitin.
    SequenceCaution:
    • Sequence=AAH39573.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14189.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14635.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAM175A Gene

neXtProt entry for FAM175A Gene

Proteomics data for FAM175A Gene at MOPED

Post-translational modifications for FAM175A Gene

  • Phosphorylation of Ser-406 of the pSXXF motif by ATM or ATR constitutes a specific recognition motif for the BRCT domain of BRCA1.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys158, Lys201, Lys268, Lys347, Lys358, and Lys398

No data available for DME Specific Peptides for FAM175A Gene

Domains for FAM175A Gene

Protein Domains for FAM175A Gene

UniProtKB/Swiss-Prot:

F175A_HUMAN
Domain:
  • The MPN-like region is similar to the MPN (JAB/Mov34) domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes.:
    • Q6UWZ7
Family:
  • Belongs to the FAM175 family. Abraxas subfamily.:
    • Q6UWZ7
genes like me logo Genes that share domains with FAM175A: view

No data available for Gene Families for FAM175A Gene

Function for FAM175A Gene

Molecular function for FAM175A Gene

UniProtKB/Swiss-Prot Function: Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes Lys-63-linked ubiquitin on histones H2A and H2AX.

Gene Ontology (GO) - Molecular Function for FAM175A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17525340
GO:0031593 polyubiquitin binding IDA 19261749
genes like me logo Genes that share ontologies with FAM175A: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for FAM175A Gene

Localization for FAM175A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM175A Gene

Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM175A Gene COMPARTMENTS Subcellular localization image for FAM175A gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for FAM175A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0070531 BRCA1-A complex IDA 17525340
genes like me logo Genes that share ontologies with FAM175A: view

Pathways for FAM175A Gene

SuperPathways for FAM175A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM175A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006302 double-strand break repair IMP 17525340
GO:0010212 response to ionizing radiation IMP 17525340
GO:0016568 chromatin modification IEA --
GO:0031572 G2 DNA damage checkpoint IMP 17525340
GO:0045739 positive regulation of DNA repair IMP 17525340
genes like me logo Genes that share ontologies with FAM175A: view

No data available for Pathways by source for FAM175A Gene

Transcripts for FAM175A Gene

Unigene Clusters for FAM175A Gene

Family with sequence similarity 175, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM175A Gene

No ASD Table

Relevant External Links for FAM175A Gene

GeneLoc Exon Structure for
FAM175A
ECgene alternative splicing isoforms for
FAM175A

Expression for FAM175A Gene

mRNA expression in normal human tissues for FAM175A Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM175A Gene

SOURCE GeneReport for Unigene cluster for FAM175A Gene Hs.334772

genes like me logo Genes that share expressions with FAM175A: view

Orthologs for FAM175A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM175A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC98 36
  • 99.92 (n)
  • 99.76 (a)
CCDC98 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM175A 36
  • 86.15 (n)
  • 81.17 (a)
FAM175A 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM175A 36
  • 88.02 (n)
  • 85.82 (a)
FAM175A 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam175a 36
  • 77.64 (n)
  • 72.73 (a)
Fam175a 16
Fam175a 37
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 74 (a)
OneToMany
-- 37
  • 64 (a)
OneToMany
-- 37
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia FAM175A 37
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam175a 36
  • 77.28 (n)
  • 72.59 (a)
chicken
(Gallus gallus)
Aves FAM175A 36
  • 68.82 (n)
  • 64.52 (a)
FAM175A 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM175A 37
  • 58 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11518 36
tropical clawed frog
(Silurana tropicalis)
Amphibia fam175a 36
  • 61.54 (n)
  • 54.34 (a)
Str.1487 36
zebrafish
(Danio rerio)
Actinopterygii fam175a 36
  • 53.12 (n)
  • 44.15 (a)
fam175a 37
  • 38 (a)
OneToOne
Species with no ortholog for FAM175A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM175A Gene

ENSEMBL:
Gene Tree for FAM175A (if available)
TreeFam:
Gene Tree for FAM175A (if available)

Paralogs for FAM175A Gene

Paralogs for FAM175A Gene

Pseudogenes.org Pseudogenes for FAM175A Gene

genes like me logo Genes that share paralogs with FAM175A: view

Variants for FAM175A Gene

Sequence variations from dbSNP and Humsavar for FAM175A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs530648 -- 83,487,024(-) CATTT(G/T)CACCT upstream-variant-2KB
rs530682 -- 83,487,008(-) TCACT(C/T)CTTTT upstream-variant-2KB
rs531715 -- 83,486,888(-) agagg(C/T)accct upstream-variant-2KB
rs546431 -- 83,486,860(-) aggaa(C/T)atcct upstream-variant-2KB
rs868217 -- 83,464,303(+) TATTA(C/T)GAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM175A Gene

Variant ID Type Subtype PubMed ID
nsv829994 CNV Loss 17160897
nsv879512 CNV Gain 21882294

Relevant External Links for FAM175A Gene

HapMap Linkage Disequilibrium report
FAM175A
Human Gene Mutation Database (HGMD)
FAM175A

Disorders for FAM175A Gene

UniProtKB/Swiss-Prot

F175A_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:22357538}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for FAM175A

Human Genome Epidemiology (HuGE) Navigator
FAM175A
genes like me logo Genes that share disorders with FAM175A: view

Publications for FAM175A Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  2. Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. (PMID: 17525340) Wang B. … Elledge S.J. (Science 2007) 2 3 4
  3. CCDC98 targets BRCA1 to DNA damage sites. (PMID: 17643121) Liu Z. … Yu X. (Nat. Struct. Mol. Biol. 2007) 3 4
  4. CCDC98 is a BRCA1-BRCT domain-binding protein involved in the DNA damage response. (PMID: 17643122) Kim H. … Chen J. (Nat. Struct. Mol. Biol. 2007) 3 4
  5. Ubc13/Rnf8 ubiquitin ligases control foci formation of the Rap80/Abraxas/Brca1/Brcc36 complex in response to DNA damage. (PMID: 18077395) Wang B. … Elledge S.J. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4

Products for FAM175A Gene

Sources for FAM175A Gene

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