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    BRME1 break repair meiotic recombinase recruitment factor 1 [ Homo sapiens (human) ]

    Gene ID: 79173, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BRME1provided by HGNC
    Official Full Name
    break repair meiotic recombinase recruitment factor 1provided by HGNC
    Primary source
    HGNC:HGNC:28153
    See related
    Ensembl:ENSG00000132016 MIM:619276; AllianceGenome:HGNC:28153
    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
    MEIOK21; C19orf57
    Summary
    Predicted to enable damaged DNA binding activity. Predicted to be involved in meiosis I; protein localization to site of double-strand break; and spermatogenesis. Predicted to be located in chromosome. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 4.2), duodenum (RPKM 1.4) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BRME1 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13882348..13906117, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14008505..14032274, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13993161..14016930, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nanos C2HC-type zinc finger 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14148 Neighboring gene microRNA 181c Neighboring gene microRNA 181d Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13993737-13994582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14000391-14000892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10218 Neighboring gene coiled-coil and C2 domain containing 1A Neighboring gene MPRA-validated peak3378 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14046993-14047750 Neighboring gene podocan like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10219 Neighboring gene DDB1 and CUL4 associated factor 15

    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. Identification of human pre-T/NK cell-associated genes. Ranes-Goldberg MG, et al. J Immunol, 1993 Nov 15. PMID 8228263
    2. MEIOK21: a new component of meiotic recombination bridges required for spermatogenesis. Shang Y, et al. Nucleic Acids Res, 2020 Jul 9. PMID 32463460, Free PMC Article
    3. Meiosis-Specific C19orf57/4930432K21Rik/BRME1 Modulates Localization of RAD51 and DMC1 to DSBs in Mouse Meiotic Recombination. Takemoto K, et al. Cell Rep, 2020 May 26. PMID 32460033
    4. The BRCA2-MEILB2-BRME1 complex governs meiotic recombination and impairs the mitotic BRCA2-RAD51 function in cancer cells. Zhang J, et al. Nat Commun, 2020 Apr 28. PMID 32345962, Free PMC Article
    5. A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1. Felipe-Medina N, et al. Elife, 2020 Aug 26. PMID 32845237, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC11271, MGC149720

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair involved in meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in female meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    break repair meiotic recombinase recruitment factor 1
    Names
    BRCA2 and MEILB2-associating protein 1
    meiosis-specific 4930432K21RIK
    pre-T/NK cell associated protein (3B3)
    uncharacterized protein C19orf57

    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_001345843.2 → NP_001332772.2  break repair meiotic recombinase recruitment factor 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 7, and 8 all encode the same isoform (1).
      Source sequence(s)
      AC020916
      Consensus CDS
      CCDS92536.1
      UniProtKB/Swiss-Prot
      Q0VDD7, Q13411, Q8N825, Q96D63, Q9BU49
      Related
      ENSP00000465822.1, ENST00000586783.6
      Conserved Domains (1) summary
      pfam15710
      Location:1 → 668
      DUF4671; Domain of unknown function (DUF4671)

    2. NM_001345844.2 → NP_001332773.2  break repair meiotic recombinase recruitment factor 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC020916
      Consensus CDS
      CCDS12299.1
      Conserved Domains (1) summary
      pfam15710
      Location:1 → 637
      DUF4671; Domain of unknown function (DUF4671)

    3. NM_001345846.2 → NP_001332775.1  break repair meiotic recombinase recruitment factor 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1. Variants 4 and 9 both encode the same isoform (4).
      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      pfam15710
      Location:1 → 550
      DUF4671; Domain of unknown function (DUF4671)

    4. NM_001345847.2 → NP_001332776.1  break repair meiotic recombinase recruitment factor 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus and lacks an alternate segment in the C-terminus compared to isoform 1.
      Source sequence(s)
      AC020916

    5. NM_001345848.2 → NP_001332777.2  break repair meiotic recombinase recruitment factor 1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC020916
      Consensus CDS
      CCDS92535.1
      UniProtKB/TrEMBL
      K7EMZ7
      Related
      ENSP00000466723.1, ENST00000591586.5

    6. NM_001393645.1 → NP_001380574.1  break repair meiotic recombinase recruitment factor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Consensus CDS
      CCDS92536.1
      UniProtKB/Swiss-Prot
      Q0VDD7, Q13411, Q8N825, Q96D63, Q9BU49
      Conserved Domains (1) summary
      pfam15710
      Location:1 → 668
      DUF4671; Domain of unknown function (DUF4671)

    7. NM_001393646.1 → NP_001380575.1  break repair meiotic recombinase recruitment factor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Consensus CDS
      CCDS92536.1
      UniProtKB/Swiss-Prot
      Q0VDD7, Q13411, Q8N825, Q96D63, Q9BU49
      Conserved Domains (1) summary
      pfam15710
      Location:1 → 668
      DUF4671; Domain of unknown function (DUF4671)

    8. NM_001393647.1 → NP_001380576.1  break repair meiotic recombinase recruitment factor 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      pfam15710
      Location:1 → 550
      DUF4671; Domain of unknown function (DUF4671)

    9. NM_001393648.1 → NP_001380577.1  break repair meiotic recombinase recruitment factor 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC020916

    10. NM_001393649.1 → NP_001380578.1  break repair meiotic recombinase recruitment factor 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC020916

    11. NM_024323.5 → NP_077299.3  break repair meiotic recombinase recruitment factor 1 isoform 3

      See identical proteins and their annotated locations for NP_077299.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an alternate segment in the C-terminus compared to isoform 1.
      Source sequence(s)
      AK097431, BI761493, BU621615
      Consensus CDS
      CCDS12299.1
      UniProtKB/Swiss-Prot
      Q0VDD7
      Related
      ENSP00000254336.1, ENST00000346736.6
      Conserved Domains (1) summary
      pfam15710
      Location:1 → 637
      DUF4671; Domain of unknown function (DUF4671)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      13882348..13906117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439430.1 → XP_047295386.1  break repair meiotic recombinase recruitment factor 1 isoform X3

    2. XM_011528287.3 → XP_011526589.1  break repair meiotic recombinase recruitment factor 1 isoform X4

      See identical proteins and their annotated locations for XP_011526589.1

      Conserved Domains (1) summary
      pfam15710
      Location:1 → 470
      DUF4671; Domain of unknown function (DUF4671)

    3. XM_024451717.2 → XP_024307485.1  break repair meiotic recombinase recruitment factor 1 isoform X2

      Conserved Domains (1) summary
      pfam15710
      Location:1 → 588
      DUF4671; Domain of unknown function (DUF4671)

    4. XM_047439431.1 → XP_047295387.1  break repair meiotic recombinase recruitment factor 1 isoform X4

    5. XM_024451716.2 → XP_024307484.1  break repair meiotic recombinase recruitment factor 1 isoform X2

      Conserved Domains (1) summary
      pfam15710
      Location:1 → 588
      DUF4671; Domain of unknown function (DUF4671)

    6. XM_024451718.2 → XP_024307486.1  break repair meiotic recombinase recruitment factor 1 isoform X5

      Conserved Domains (1) summary
      pfam15710
      Location:140 → 287
      DUF4671; Domain of unknown function (DUF4671)

    7. XM_024451712.2 → XP_024307480.1  break repair meiotic recombinase recruitment factor 1 isoform X1

      Conserved Domains (1) summary
      pfam15710
      Location:140 → 727
      DUF4671; Domain of unknown function (DUF4671)

    RNA

    1. XR_007067013.1 RNA Sequence

    2. XR_007067011.1 RNA Sequence

    3. XR_007067010.1 RNA Sequence

    4. XR_007067012.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p14 PATCHES

      Range
      94189..117958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332720.1 → XP_054188695.1  break repair meiotic recombinase recruitment factor 1 isoform X3

    2. XM_054332718.1 → XP_054188693.1  break repair meiotic recombinase recruitment factor 1 isoform X2

    3. XM_054332721.1 → XP_054188696.1  break repair meiotic recombinase recruitment factor 1 isoform X4

    4. XM_054332719.1 → XP_054188694.1  break repair meiotic recombinase recruitment factor 1 isoform X2

    5. XM_054332723.1 → XP_054188698.1  break repair meiotic recombinase recruitment factor 1 isoform X5

    6. XM_054332717.1 → XP_054188692.1  break repair meiotic recombinase recruitment factor 1 isoform X1

    7. XM_054332722.1 → XP_054188697.1  break repair meiotic recombinase recruitment factor 1 isoform X4

    RNA

    1. XR_008485790.1 RNA Sequence

    2. XR_008485788.1 RNA Sequence

    3. XR_008485787.1 RNA Sequence

    4. XR_008485789.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14008505..14032274 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322139.1 → XP_054178114.1  break repair meiotic recombinase recruitment factor 1 isoform X3

    2. XM_054322137.1 → XP_054178112.1  break repair meiotic recombinase recruitment factor 1 isoform X2

    3. XM_054322140.1 → XP_054178115.1  break repair meiotic recombinase recruitment factor 1 isoform X4

    4. XM_054322138.1 → XP_054178113.1  break repair meiotic recombinase recruitment factor 1 isoform X2

    5. XM_054322142.1 → XP_054178117.1  break repair meiotic recombinase recruitment factor 1 isoform X5

    6. XM_054322136.1 → XP_054178111.1  break repair meiotic recombinase recruitment factor 1 isoform X1

    7. XM_054322141.1 → XP_054178116.1  break repair meiotic recombinase recruitment factor 1 isoform X4

    RNA

    1. XR_008485202.1 RNA Sequence

    2. XR_008485200.1 RNA Sequence

    3. XR_008485199.1 RNA Sequence

    4. XR_008485201.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VDD7.2 GenPept UniProtKB/Swiss-Prot:Q0VDD7

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