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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
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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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