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    RAD51AP1 RAD51 associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 10635, updated on 26-Sep-2021

    Summary

    Official Symbol
    RAD51AP1provided by HGNC
    Official Full Name
    RAD51 associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:16956
    See related
    Ensembl:ENSG00000111247 MIM:603070
    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
    PIR51
    Expression
    Broad expression in bone marrow (RPKM 9.3), testis (RPKM 6.1) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RAD51AP1 in Genome Data Viewer
    Location:
    12p13.32
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (4538890..4560047)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4648056..4669213)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2870 Neighboring gene chromosome 12 open reading frame 4 Neighboring gene Sharpr-MPRA regulatory region 10040 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 4 Neighboring gene coiled-coil domain containing 181 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common genetic variants associate with serum phosphorus concentration.
    GeneReviews: Not available
    Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-loop DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA secondary structure binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    RAD51-associated protein 1
    Names
    RAD51-interacting protein
    hsRAD51AP1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001130862.2NP_001124334.1  RAD51-associated protein 1 isoform a

      See identical proteins and their annotated locations for NP_001124334.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC005832, BC016330, DC397655
      Consensus CDS
      CCDS44805.1
      UniProtKB/Swiss-Prot
      Q96B01
      Related
      ENSP00000228843.9, ENST00000228843.13
      Conserved Domains (1) summary
      pfam15696
      Location:328349
      RAD51_interact; RAD51 interacting motif
    2. NM_006479.5NP_006470.1  RAD51-associated protein 1 isoform b

      See identical proteins and their annotated locations for NP_006470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC005832, AK291948, BU689445
      Consensus CDS
      CCDS8529.1
      UniProtKB/Swiss-Prot
      Q96B01
      Related
      ENSP00000309479.7, ENST00000352618.9
      Conserved Domains (1) summary
      pfam15696
      Location:311332
      RAD51_interact; RAD51 interacting motif

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      4538890..4560047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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