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

    Gene ID: 10635, updated on 2-Nov-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, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 9.3), testis (RPKM 6.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAD51AP1 in Genome Data Viewer
    Location:
    12p13.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4538890..4560047)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4545677..4566834)
    RS_2024_09 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 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. Pre-rRNA facilitates the recruitment of RAD51AP1 to DNA double-strand breaks. Chen L, et al. J Biol Chem, 2024 Mar. PMID 38403248, Free PMC Article
    2. Role of RAD51AP1 in homologous recombination DNA repair and carcinogenesis. Pires E, et al. DNA Repair (Amst), 2017 Nov. PMID 28963981, Free PMC Article
    3. 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
    4. Mechanistic insights into RAD51-associated protein 1 (RAD51AP1) action in homologous DNA repair. Dunlop MH, et al. J Biol Chem, 2012 Apr 6. PMID 22375013, Free PMC Article
    5. 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

    See all (64) 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)

    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
    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

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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_2024_08

    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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