BRME1

Summary

BRME1 (break repair meiotic recombinase recruitment factor 1, HGNC:28153) is a protein-coding gene on chromosome 19p13.12, encoding Break repair meiotic recombinase recruitment factor 1 (Q0VDD7). Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair.

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.

Source: NCBI Gene 79173 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 23 total
• MANE Select transcript: NM_001345843

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28153
Approved symbol	BRME1
Name	break repair meiotic recombinase recruitment factor 1
Location	19p13.12
Locus type	gene with protein product
Status	Approved
Aliases	MGC11271, MEIOK21
Ensembl gene	ENSG00000132016
Ensembl biotype	protein_coding
OMIM	619276
Entrez	79173

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000346736, ENST00000585755, ENST00000586500, ENST00000586783, ENST00000588115, ENST00000589393, ENST00000591439, ENST00000591586, ENST00000871175, ENST00000871176, ENST00000871177, ENST00000871178, ENST00000871179, ENST00000968796

RefSeq mRNA: 10 — MANE Select: NM_001345843 NM_001345843, NM_001345844, NM_001345846, NM_001345847, NM_001345848, NM_001393645, NM_001393646, NM_001393647, NM_001393648, NM_024323

CCDS: CCDS12299, CCDS92535, CCDS92536

Canonical transcript exons

ENST00000586783 — 9 exons

Exon	Start	End
ENSE00000902112	13885961	13886055
ENSE00001055366	13889188	13890462
ENSE00001239125	13892786	13892890
ENSE00001239131	13893142	13893223
ENSE00001239139	13895372	13895546
ENSE00001369402	13904862	13904913
ENSE00001749383	13883308	13883400
ENSE00002797501	13882348	13882952
ENSE00003922974	13905715	13906117

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 88.23.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1391 / max 45.5164, expressed in 837 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179575	1.1426	555
179574	0.6285	306
179573	0.2002	76
179572	0.1678	81

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	88.23	gold quality
left testis	UBERON:0004533	87.61	gold quality
testis	UBERON:0000473	86.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.22	gold quality
mucosa of transverse colon	UBERON:0004991	84.80	gold quality
sural nerve	UBERON:0015488	84.48	gold quality
ventricular zone	UBERON:0003053	83.34	gold quality
ganglionic eminence	UBERON:0004023	82.73	gold quality
cortical plate	UBERON:0005343	81.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.39	gold quality
lower esophagus mucosa	UBERON:0035834	80.11	gold quality
cerebellar hemisphere	UBERON:0002245	79.97	gold quality
cerebellum	UBERON:0002037	79.92	gold quality
cerebellar cortex	UBERON:0002129	79.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.55	gold quality
body of pancreas	UBERON:0001150	79.13	gold quality
esophagus mucosa	UBERON:0002469	78.55	gold quality
skin of abdomen	UBERON:0001416	78.39	gold quality
duodenum	UBERON:0002114	78.27	gold quality
zone of skin	UBERON:0000014	77.92	gold quality
skin of leg	UBERON:0001511	77.63	gold quality
small intestine Peyer’s patch	UBERON:0003454	76.64	gold quality
small intestine	UBERON:0002108	76.31	gold quality
vagina	UBERON:0000996	75.88	gold quality
transverse colon	UBERON:0001157	75.71	gold quality
tibial nerve	UBERON:0001323	75.37	gold quality
right uterine tube	UBERON:0001302	75.16	gold quality
right frontal lobe	UBERON:0002810	74.67	gold quality
ectocervix	UBERON:0012249	74.37	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.33	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.86

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting BRME1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4539	98.78	67.18	888
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-432-5P	98.00	68.13	989
HSA-MIR-4442	92.35	67.08	98

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Brme1	ENSMUSG00000008129
rattus_norvegicus	Brme1	ENSRNOG00000025796

Protein

Protein identifiers

Break repair meiotic recombinase recruitment factor 1 — Q0VDD7 (reviewed: Q0VDD7)

Alternative names: Pre-T/NK cell-associated protein 3B3

All UniProt accessions (4): Q0VDD7, K7ELK3, K7EMZ7, K7EP60

UniProt curated annotations — full annotation on UniProt →

Function. Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair. Modulates the localization of recombinases DMC1:RAD51 to meiotic double-strand break (DSB) sites through the interaction with and stabilization of the BRCA2:HSF2BP complex during meiotic recombination. Indispensable for the DSB repair, homologous synapsis, and crossover formation that are needed for progression past metaphase I, is essential for spermatogenesis and male fertility.

Subunit / interactions. Interacts with HSF2BP (via N-terminus) and BRCA2; the interaction with HSF2BP is direct and allows the formation of a ternary complex. The complex BRME1:HSF2BP:BRCA2 interacts with SPATA22, MEIOB and RAD51.

Subcellular location. Chromosome.

Isoforms (2)

UniProt ID	Names	Canonical?
Q0VDD7-1	1	yes
Q0VDD7-2	2

RefSeq proteins (10): NP_001332772, NP_001332773, NP_001332775, NP_001332776, NP_001332777, NP_001380574, NP_001380575, NP_001380576, NP_001380577, NP_077299 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031441	Brme1	Family

Pfam: PF15710

UniProt features (18 total): compositionally biased region 6, region of interest 5, sequence variant 2, chain 1, modified residue 1, splice variant 1, sequence conflict 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8A51	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0VDD7-F1	47.23	0.04

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 370

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 107 (showing top): E2F_Q4, E2F4DP1_01, GOBP_MALE_GAMETE_GENERATION, GGGTGGRR_PAX4_03, E2F1DP1_01, E2F1DP2_01, GOBP_ORGANELLE_FISSION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_FEMALE_GAMETE_GENERATION, E2F1_Q3, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, TAL1BETAE47_01, MODULE_112, MYB_Q5_01

GO Biological Process (4): female meiosis I (GO:0007144), spermatogenesis (GO:0007283), double-strand break repair involved in meiotic recombination (GO:1990918), meiotic cell cycle (GO:0051321)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
meiosis I	1
female meiotic nuclear division	1
female gamete generation	1
meiotic cell cycle	1
developmental process involved in reproduction	1
male gamete generation	1
double-strand break repair	1
reciprocal meiotic recombination	1
meiotic cell cycle process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
binding	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BRME1	HSF2BP	O75031	760
BRME1	SPATA22	Q8NHS9	620
BRME1	MEIOB	Q8N635	609
BRME1	C19orf67	A6NJJ6	541
BRME1	SYCP3	Q8IZU3	470
BRME1	SYCE2	Q6PIF2	418
BRME1	HORMAD2	Q8N7B1	409
BRME1	HORMAD1	Q86X24	406
BRME1	C19orf53	Q9UNZ5	400
BRME1	SPO11	Q9Y5K1	394
BRME1	RNF212	Q495C1	390
BRME1	C14orf39	Q8N1H7	379
BRME1	ADGRE3	Q9BY15	374
BRME1	FAM222A	Q5U5X8	371
BRME1	SWSAP1	Q6NVH7	370

IntAct

99 interactions, top by confidence:

A	B	Type	Score
AIMP2	BRME1	psi-mi:“MI:0915”(physical association)	0.830
BRME1	AIMP2	psi-mi:“MI:0915”(physical association)	0.830
TRIM23	BRME1	psi-mi:“MI:0915”(physical association)	0.670
KRTAP10-9	BRME1	psi-mi:“MI:0915”(physical association)	0.670
BRME1	TRIM23	psi-mi:“MI:0915”(physical association)	0.670
BRME1	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.670
PSMA6	BRME1	psi-mi:“MI:0915”(physical association)	0.560
RUNX1T1	BRME1	psi-mi:“MI:0915”(physical association)	0.560
	BRME1	psi-mi:“MI:0915”(physical association)	0.560
BRME1	KRT38	psi-mi:“MI:0915”(physical association)	0.560
BRME1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
BRME1	KRT40	psi-mi:“MI:0915”(physical association)	0.560
BRME1	HAUS3	psi-mi:“MI:0915”(physical association)	0.560
HOMER1	BRME1	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	BRME1	psi-mi:“MI:0915”(physical association)	0.560
BRME1	TSC22D3	psi-mi:“MI:0915”(physical association)	0.560
CTNNAL1	BRME1	psi-mi:“MI:0915”(physical association)	0.560
BRME1	PSMA6	psi-mi:“MI:0915”(physical association)	0.560
BRME1	RUNX1T1	psi-mi:“MI:0915”(physical association)	0.560
BRME1		psi-mi:“MI:0915”(physical association)	0.560

BioGRID (54): C19orf57 (Two-hybrid), C19orf57 (Two-hybrid), C19orf57 (Two-hybrid), C19orf57 (Two-hybrid), C19orf57 (Two-hybrid), C19orf57 (Two-hybrid), C19orf57 (Two-hybrid), C19orf57 (Two-hybrid), HAUS3 (Two-hybrid), KRT40 (Two-hybrid), FAM9B (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-3 (Two-hybrid), C19orf25 (Two-hybrid)

ESM2 similar proteins: A0A096LP49, A0A8V8TNH8, A0A8V8TPE2, A6NDY2, A6NIJ5, A6NJQ4, A6NKC0, A6NNH2, A6NNJ1, A8MUA0, A8MWA6, A8MX19, A8MXJ8, A8MXZ1, A8MYA2, B1ASB6, D6RGX4, P0C7V4, P0C7W8, P0C7W9, P0C7X0, P0DV73, P0DV74, P0DV75, P0DV76, Q0VDD7, Q2KIS6, Q3UHD3, Q4R736, Q5SZB4, Q5T8A7, Q5VZ46, Q5XIK6, Q658T7, Q6A025, Q6NTE8, Q6PIX9, Q6ZMY3, Q86Y26, Q86YD7

Diamond homologs: Q0VDD7, Q6DIA7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

23 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2106 predictions. Top by Δscore:

Variant	Effect	Δscore
19:13882894:T:TA	donor_gain	1.0000
19:13883306:A:AC	donor_gain	1.0000
19:13883307:C:CC	donor_gain	1.0000
19:13883309:T:TA	donor_gain	1.0000
19:13892891:C:CC	acceptor_gain	1.0000
19:13892899:C:CT	acceptor_gain	1.0000
19:13892902:A:AC	acceptor_gain	1.0000
19:13892917:A:T	acceptor_gain	1.0000
19:13904857:CGTA:C	donor_loss	1.0000
19:13904858:GTA:G	donor_loss	1.0000
19:13904859:TAC:T	donor_loss	1.0000
19:13904860:A:AC	donor_gain	1.0000
19:13904861:C:A	donor_loss	1.0000
19:13904861:C:CC	donor_gain	1.0000
19:13904913:TC:T	acceptor_loss	1.0000
19:13904915:T:G	acceptor_loss	1.0000
19:13882877:G:A	donor_gain	0.9900
19:13882880:T:TA	donor_gain	0.9900
19:13882881:C:A	donor_gain	0.9900
19:13882953:C:CC	acceptor_gain	0.9900
19:13883080:A:C	donor_gain	0.9900
19:13883307:CTT:C	donor_gain	0.9900
19:13883326:A:C	donor_gain	0.9900
19:13883406:C:CT	acceptor_gain	0.9900
19:13883407:A:T	acceptor_gain	0.9900
19:13885956:CCTA:C	donor_loss	0.9900
19:13885957:CTA:C	donor_loss	0.9900
19:13885959:ACC:A	donor_loss	0.9900
19:13885960:C:CA	donor_loss	0.9900
19:13892779:GCCTT:G	donor_loss	0.9900

AlphaMissense

4311 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:13883320:A:G	L615P	0.991
19:13882950:C:G	R620P	0.990
19:13882929:C:G	R627P	0.986
19:13883311:A:G	L618P	0.986
19:13883332:A:G	L611P	0.984
19:13892861:A:C	F106L	0.984
19:13892861:A:T	F106L	0.984
19:13892863:A:G	F106L	0.984
19:13892873:A:C	F102L	0.981
19:13892873:A:T	F102L	0.981
19:13892875:A:G	F102L	0.981
19:13882947:A:G	L621P	0.977
19:13883320:A:T	L615H	0.977
19:13882940:C:A	M623I	0.976
19:13882940:C:G	M623I	0.976
19:13882940:C:T	M623I	0.976
19:13883317:G:A	S616F	0.969
19:13883318:A:G	S616P	0.968
19:13882923:A:G	L629P	0.967
19:13883323:T:A	E614V	0.967
19:13882944:A:T	I622N	0.965
19:13882910:C:A	K633N	0.964
19:13882910:C:G	K633N	0.964
19:13882952:G:C	N619K	0.964
19:13882952:G:T	N619K	0.964
19:13882944:A:C	I622S	0.963
19:13883336:C:G	G610R	0.963
19:13882933:G:C	H626D	0.961
19:13883320:A:C	L615R	0.961
19:13883332:A:T	L611H	0.960

dbSNP variants (sampled 300 via entrez): RS1000018074 (19:13902990 T>C), RS1000199459 (19:13883530 G>A), RS1000317030 (19:13903302 A>G), RS1000453134 (19:13887149 G>A), RS1000484174 (19:13891949 T>A,C), RS1000566290 (19:13886154 G>A,C), RS1000825751 (19:13897879 A>G), RS1000919214 (19:13904552 C>T), RS1001091248 (19:13898293 T>C), RS1001187639 (19:13902720 T>A,G), RS1001329092 (19:13903785 T>C), RS1001435114 (19:13904279 C>G), RS1001785693 (19:13886583 C>T), RS1001816780 (19:13886326 C>T), RS1001853407 (19:13892184 A>C,G)

Disease associations

OMIM: gene MIM:619276 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010816_9	Gut microbiota beta diversity (weighted UniFrac distance)	2.000000e-06
GCST012335_32	Hodgkin’s lymphoma	9.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol A	affects cotreatment, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
aflatoxin B2	increases methylation	1
(+)-JQ1 compound	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.