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

Gene ID: 10635, updated on 12-Oct-2019

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

Genomic context

See RAD51AP1 in Genome Data Viewer
Location:
12p13.32
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (4538890..4560047)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4647940..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

NHGRI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration.
NHGRI GWA Catalog
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000352618.8
    Conserved Domains (1) summary
    pfam15696
    Location:311332
    RAD51_interact; RAD51 interacting motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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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