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FAM175A family with sequence similarity 175 member A [ Homo sapiens (human) ]

Gene ID: 84142, updated on 8-May-2016
Official Symbol
FAM175Aprovided by HGNC
Official Full Name
family with sequence similarity 175 member Aprovided by HGNC
Primary source
HGNC:HGNC:25829
See related
Ensembl:ENSG00000163322 HPRD:08584; MIM:611143
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ABRA1; CCDC98
Orthologs
Location:
4q21.23
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (83460939..83485163, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84382092..84406290, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene chromosome 18 open reading frame 21 pseudogene Neighboring gene helicase, POLQ-like Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene solute carrier family 25 member 14 pseudogene 1 Neighboring gene ribosomal protein L30 pseudogene 5 Neighboring gene glycerol-3-phosphate acyltransferase 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
NHGRI GWA Catalog
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11520, FLJ12642, FLJ13614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
polyubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2 DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin modification IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
BRCA1-A complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
BRCA1-A complex subunit Abraxas
Names
abraxas protein
coiled-coil domain containing 98
coiled-coil domain-containing protein 98
family with sequence similarity 175, member A

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_139076.2NP_620775.2  BRCA1-A complex subunit Abraxas

    See identical proteins and their annotated locations for NP_620775.2

    Status: VALIDATED

    Source sequence(s)
    AY358576, BC039573, BQ775930, DA765424
    Consensus CDS
    CCDS3605.2
    UniProtKB/Swiss-Prot
    Q6UWZ7
    Related
    ENSP00000369857, OTTHUMP00000160985, ENST00000321945, OTTHUMT00000252818
    Conserved Domains (1) summary
    PRK03992
    Location:210258
    PRK03992; proteasome-activating nucleotidase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    83460939..83485163 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263281.3XP_005263338.1  

    Conserved Domains (1) summary
    PRK03992
    Location:123171
    PRK03992; proteasome-activating nucleotidase; Provisional
  2. XM_005263280.3XP_005263337.1  

    UniProtKB/TrEMBL
    D6REL5
    Related
    ENSP00000426763, OTTHUMP00000221470, ENST00000506553, OTTHUMT00000367683
    Conserved Domains (1) summary
    PRK03992
    Location:161209
    PRK03992; proteasome-activating nucleotidase; Provisional
  3. XM_011532318.1XP_011530620.1  

    Conserved Domains (1) summary
    PRK03992
    Location:55103
    PRK03992; proteasome-activating nucleotidase; Provisional

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    84358666..84382863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)