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

Gene ID: 10635, updated on 7-Apr-2024

Summary

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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; AllianceGenome:HGNC:16956
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
Summary
Enables nucleic acid binding activity. Involved in DNA repair; cellular response to ionizing radiation; and positive regulation of DNA recombination. Located in chromatin and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bone marrow (RPKM 9.3), testis (RPKM 6.1) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
12p13.32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4538890..4560047)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4545677..4566834)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4648056..4669213)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4549412-4550163 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4550164-4550914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4550915-4551665 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4559670-4560372 Neighboring gene fibroblast growth factor 6 Neighboring gene Sharpr-MPRA regulatory region 2870 Neighboring gene FERRY endosomal RAB5 effector complex subunit 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4618390-4619024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4647270-4647879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4647880-4648488 Neighboring gene Sharpr-MPRA regulatory region 10040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5826 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 4 Neighboring gene coiled-coil domain containing 181 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5827 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:4737023-4738222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:4739222-4740085 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742144-4742644 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4742645-4743145 Neighboring gene RAB5A, member RAS oncogene family pseudogene Neighboring gene A-kinase anchoring protein 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. RAD51AP1 promotes progression of ovarian cancer via TGF-β/Smad signalling pathway. Zhao H, et al. J Cell Mol Med, 2021 Feb. PMID 33314567, Free PMC Article
  2. RAD51AP1 Is an Essential Mediator of Alternative Lengthening of Telomeres. Barroso-González J, et al. Mol Cell, 2019 Oct 3. PMID 31400850, Free PMC Article
  3. Silencing of RAD51AP1 suppresses epithelial-mesenchymal transition and metastasis in non-small cell lung cancer. Wu Y, et al. Thorac Cancer, 2019 Sep. PMID 31317661, Free PMC Article
  4. Identification of cancer biomarkers of prognostic value using specific gene regulatory networks (GRN): a novel role of RAD51AP1 for ovarian and lung cancers. Chudasama D, et al. Carcinogenesis, 2018 Mar 8. PMID 29126163, Free PMC Article
  5. Role of RAD51AP1 in homologous recombination DNA repair and carcinogenesis. Pires E, et al. DNA Repair (Amst), 2017 Nov. PMID 28963981, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pre-rRNA facilitates the recruitment of RAD51AP1 to DNA double-strand breaks.
    Title: Pre-rRNA facilitates the recruitment of RAD51AP1 to DNA double-strand breaks.
  2. The gene RAD51AP1 promotes the progression of pancreatic cancer via the PI3K/Akt/NF-kappaB signaling pathway.
    Title: The gene RAD51AP1 promotes the progression of pancreatic cancer via the PI3K/Akt/NF-κB signaling pathway.
  3. Identification of the E2F1-RAD51AP1 axis as a key factor in MGMT-methylated GBM TMZ resistance.
    Title: Identification of the E2F1-RAD51AP1 axis as a key factor in MGMT-methylated GBM TMZ resistance.
  4. RAD51AP1 Loss Attenuates Colorectal Cancer Stem Cell Renewal and Sensitizes to Chemotherapy.
    Title: RAD51AP1 Loss Attenuates Colorectal Cancer Stem Cell Renewal and Sensitizes to Chemotherapy.
  5. A Novel Neoplastic Fusion Transcript, RAD51AP1-DYRK4, Confers Sensitivity to the MEK Inhibitor Trametinib in Aggressive Breast Cancers.
    Title: A Novel Neoplastic Fusion Transcript, RAD51AP1-DYRK4, Confers Sensitivity to the MEK Inhibitor Trametinib in Aggressive Breast Cancers.
  6. ZEB1 induces non-small cell lung cancer development by targeting microRNA-320a to increase the expression of RAD51AP1.
    Title: ZEB1 induces non-small cell lung cancer development by targeting microRNA-320a to increase the expression of RAD51AP1.
  7. RAD51AP1 promotes progression of ovarian cancer via TGF-beta/Smad signalling pathway.
    Title: RAD51AP1 promotes progression of ovarian cancer via TGF-β/Smad signalling pathway.
  8. RAD51AP1 mediates RAD51 activity through nucleosome interaction.
    Title: RAD51AP1 mediates RAD51 activity through nucleosome interaction.
  9. NUCKS1 promotes RAD54 activity in homologous recombination DNA repair.
    Title: NUCKS1 promotes RAD54 activity in homologous recombination DNA repair.
  10. High RAD51AP1 expression is associated with epithelial-mesenchymal transition and metastasis in non-small cell lung cancer.
    Title: Silencing of RAD51AP1 suppresses epithelial-mesenchymal transition and metastasis in non-small cell lung cancer.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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
  
enables single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in double-strand break repair via homologous recombination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in interstrand cross-link repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of reciprocal meiotic recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of 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

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

NCBI Reference Sequences (RefSeq)

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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_001130862.2 → NP_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
    A8K7D3, O43403, Q7Z779, Q96B01
    UniProtKB/TrEMBL
    A8K313
    Related
    ENSP00000228843.9, ENST00000228843.13
    Conserved Domains (1) summary
    pfam15696
    Location:328 → 349
    RAD51_interact; RAD51 interacting motif

  2. NM_001410959.1 → NP_001397888.1  RAD51-associated protein 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC005832
    Consensus CDS
    CCDS91640.1
    UniProtKB/TrEMBL
    F5H1Y0
    Related
    ENSP00000446296.1, ENST00000544927.5

  3. NM_006479.5 → NP_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/TrEMBL
    A8K313
    Related
    ENSP00000309479.7, ENST00000352618.9
    Conserved Domains (1) summary
    pfam15696
    Location:311 → 332
    RAD51_interact; RAD51 interacting motif

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047428085.1 → XP_047284041.1  RAD51-associated protein 1 isoform X1

  2. XM_047428089.1 → XP_047284045.1  RAD51-associated protein 1 isoform X4

  3. XM_047428095.1 → XP_047284051.1  RAD51-associated protein 1 isoform X8

  4. XM_047428086.1 → XP_047284042.1  RAD51-associated protein 1 isoform X2

  5. XM_047428090.1 → XP_047284046.1  RAD51-associated protein 1 isoform X5

  6. XM_047428099.1 → XP_047284055.1  RAD51-associated protein 1 isoform X11

    Related
    ENSP00000444769.1, ENST00000536117.5

  7. XM_047428096.1 → XP_047284052.1  RAD51-associated protein 1 isoform X9

  8. XM_047428092.1 → XP_047284048.1  RAD51-associated protein 1 isoform X6

  9. XM_047428093.1 → XP_047284049.1  RAD51-associated protein 1 isoform X7

  10. XM_047428098.1 → XP_047284054.1  RAD51-associated protein 1 isoform X10

    UniProtKB/TrEMBL
    B4DUS5

  11. XM_047428087.1 → XP_047284043.1  RAD51-associated protein 1 isoform X3

  12. XM_047428091.1 → XP_047284047.1  RAD51-associated protein 1 isoform X6

  13. XM_047428094.1 → XP_047284050.1  RAD51-associated protein 1 isoform X7

  14. XM_047428088.1 → XP_047284044.1  RAD51-associated protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    4545677..4566834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370782.1 → XP_054226757.1  RAD51-associated protein 1 isoform X1

  2. XM_054370786.1 → XP_054226761.1  RAD51-associated protein 1 isoform X4

  3. XM_054370792.1 → XP_054226767.1  RAD51-associated protein 1 isoform X8

  4. XM_054370783.1 → XP_054226758.1  RAD51-associated protein 1 isoform X2

  5. XM_054370787.1 → XP_054226762.1  RAD51-associated protein 1 isoform X5

  6. XM_054370795.1 → XP_054226770.1  RAD51-associated protein 1 isoform X11

  7. XM_054370793.1 → XP_054226768.1  RAD51-associated protein 1 isoform X9

  8. XM_054370789.1 → XP_054226764.1  RAD51-associated protein 1 isoform X6

  9. XM_054370790.1 → XP_054226765.1  RAD51-associated protein 1 isoform X7

  10. XM_054370794.1 → XP_054226769.1  RAD51-associated protein 1 isoform X10

    UniProtKB/TrEMBL
    B4DUS5

  11. XM_054370784.1 → XP_054226759.1  RAD51-associated protein 1 isoform X3

  12. XM_054370788.1 → XP_054226763.1  RAD51-associated protein 1 isoform X6

  13. XM_054370791.1 → XP_054226766.1  RAD51-associated protein 1 isoform X7

  14. XM_054370785.1 → XP_054226760.1  RAD51-associated protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96B01.1 GenPept UniProtKB/Swiss-Prot:Q96B01

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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