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

Gene ID: 79173, updated on 25-Nov-2021

Summary

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
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
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

See BRME1 in Genome Data Viewer
Location:
19p13.12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13882348..13906127, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13993161..14016978, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nanos C2HC-type zinc finger 3 Neighboring gene microRNA 181c Neighboring gene microRNA 181d Neighboring gene coiled-coil and C2 domain containing 1A Neighboring gene podocan like 1 Neighboring gene DDB1 and CUL4 associated factor 15

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001345843.2NP_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
    Conserved Domains (1) summary
    pfam15710
    Location:1668
    DUF4671; Domain of unknown function (DUF4671)
  2. NM_001345844.2NP_001332773.2  break repair meiotic recombinase recruitment factor 1 isoform 2

    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
    Conserved Domains (1) summary
    pfam15710
    Location:1637
    DUF4671; Domain of unknown function (DUF4671)
  3. NM_001345846.2NP_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:1550
    DUF4671; Domain of unknown function (DUF4671)
  4. NM_001345847.2NP_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_001345848.2NP_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
    Related
    ENSP00000466723.1, ENST00000591586.5
  6. NM_001393645.1NP_001380574.1  break repair meiotic recombinase recruitment factor 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC020916
    Related
    ENSP00000465822.1, ENST00000586783.5
    Conserved Domains (1) summary
    pfam15710
    Location:1668
    DUF4671; Domain of unknown function (DUF4671)
  7. NM_001393646.1NP_001380575.1  break repair meiotic recombinase recruitment factor 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC020916
    Conserved Domains (1) summary
    pfam15710
    Location:1668
    DUF4671; Domain of unknown function (DUF4671)
  8. NM_001393647.1NP_001380576.1  break repair meiotic recombinase recruitment factor 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC020916
    Conserved Domains (1) summary
    pfam15710
    Location:1550
    DUF4671; Domain of unknown function (DUF4671)
  9. NM_001393648.1NP_001380577.1  break repair meiotic recombinase recruitment factor 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC020916
  10. NM_001393649.1NP_001380578.1  break repair meiotic recombinase recruitment factor 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC020916
  11. NM_024323.5NP_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:1637
    DUF4671; Domain of unknown function (DUF4671)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    13882348..13906127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451716.1XP_024307484.1  break repair meiotic recombinase recruitment factor 1 isoform X5

    Conserved Domains (1) summary
    pfam15710
    Location:1588
    DUF4671; Domain of unknown function (DUF4671)
  2. XM_024451718.1XP_024307486.1  break repair meiotic recombinase recruitment factor 1 isoform X7

    Conserved Domains (1) summary
    pfam15710
    Location:140287
    DUF4671; Domain of unknown function (DUF4671)
  3. XM_024451714.1XP_024307482.1  break repair meiotic recombinase recruitment factor 1 isoform X3

    Conserved Domains (1) summary
    pfam15710
    Location:140738
    DUF4671; Domain of unknown function (DUF4671)
  4. XM_024451713.1XP_024307481.1  break repair meiotic recombinase recruitment factor 1 isoform X2

    Conserved Domains (1) summary
    pfam15710
    Location:140730
    DUF4671; Domain of unknown function (DUF4671)
  5. XM_024451712.1XP_024307480.1  break repair meiotic recombinase recruitment factor 1 isoform X1

    Conserved Domains (1) summary
    pfam15710
    Location:140727
    DUF4671; Domain of unknown function (DUF4671)
  6. XM_024451717.1XP_024307485.1  break repair meiotic recombinase recruitment factor 1 isoform X5

    Conserved Domains (1) summary
    pfam15710
    Location:1588
    DUF4671; Domain of unknown function (DUF4671)
  7. XM_011528287.2XP_011526589.1  break repair meiotic recombinase recruitment factor 1 isoform X6

    See identical proteins and their annotated locations for XP_011526589.1

    Conserved Domains (1) summary
    pfam15710
    Location:1470
    DUF4671; Domain of unknown function (DUF4671)
  8. XM_011528286.2XP_011526588.1  break repair meiotic recombinase recruitment factor 1 isoform X6

    See identical proteins and their annotated locations for XP_011526588.1

    Conserved Domains (1) summary
    pfam15710
    Location:1470
    DUF4671; Domain of unknown function (DUF4671)
  9. XM_024451715.1XP_024307483.1  break repair meiotic recombinase recruitment factor 1 isoform X4

    Conserved Domains (1) summary
    pfam15710
    Location:140730
    DUF4671; Domain of unknown function (DUF4671)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160022.1 Reference GRCh38.p13 PATCHES

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