RMI1 - RecQ mediated genome instability 1 Gene

Also Known as BLAP75; FAAP75; C9orf76

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80010

About RMI1

Cytogenetic location: 9q21.32 Genomic coordinates (GRCh38): 9:83,980,359-84,004,074 (from NCBI)

This gene has 2 transcripts (splice variants), 187 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 5.7), lymph node (RPKM 5.0) and 25 other tissues.

Summary

RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]

RMI1 Products (5)

mRNA	Protein	Name
NM_001358291.2	NP_001345220.1	recQ-mediated genome instability protein 1
NM_001358292.2	NP_001345221.1	recQ-mediated genome instability protein 1
NM_001358293.2	NP_001345222.1	recQ-mediated genome instability protein 1
NM_001358294.2	NP_001345223.1	recQ-mediated genome instability protein 1
NM_024945.3	NP_079221.2	recQ-mediated genome instability protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15775963	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	23543748	GOA
involved in resolution of DNA recombination intermediates	IDA IDA: Inferred from direct assay	23543748	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of RecQ family helicase-topoisomerase III complex	IPI IPI: Inferred from physical interaction	24984776	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RMI1 Protein Structure

RMI1_N

0
100
200
300
400
500
625 a.a.

Protein Preferred Names	Protein Names
recQ-mediated genome instability protein 1	BLM-associated polypeptide, 75 kDa

RMI1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	Ion Exchange Chrom	20826341
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	Pull Down	20826342
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	GMS	20826341
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	X-Ray Diffraction	20826342
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	Pull Down	20826341
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	Anti Tag CoIP	20826342
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	GMS	20826342
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14-1	X-Ray Diffraction	20826341
Intra	RMI1	Q9H9A7	RMI2	Homo sapiens	Q96E14	Anti Bait CoIP	20711169
Intra	RMI1	Q9H9A7	TOP3A	Homo sapiens	Q13472	Anti Bait CoIP	20711169
Intra	RMI1	Q9H9A7	TOP3A	Homo sapiens	Q13472	Anti Bait CoIP	15775963
Intra	RMI1	Q9H9A7	TOP3A	Homo sapiens	Q13472	TAP	20360068
Intra	RMI1	Q9H9A7	TOP3A	Homo sapiens	Q13472	Anti Tag CoIP	33961781
Intra	RMI1	Q9H9A7	TOP3A	Homo sapiens	Q13472	Anti Tag CoIP	20826342
Intra	RMI1	Q9H9A7	BLM	Homo sapiens	P54132	IF	15775963
Intra	RMI1	Q9H9A7	BLM	Homo sapiens	P54132	Pull Down	23509288
Intra	RMI1	Q9H9A7	BLM	Homo sapiens	P54132	Anti Bait CoIP	20711169
Intra	RMI1	Q9H9A7	BLM	Homo sapiens	P54132	Anti Bait CoIP	15775963
Intra	RMI1	Q9H9A7	BLM	Homo sapiens	P54132	Anti Tag CoIP	20826342
Intra	RMI1	Q9H9A7	BLM	Homo sapiens	P54132	TAP	20360068

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bloom Syndrome	BLM Bs Bls Bloom-Torre-Machacek Syndrome Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1 Mgrisce1 Congenital Telangiectatic Erythema Congenital Telangiectatic Erythema Syndrome Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability Bloom'S Syndrome Bsyn
Baller-Gerold Syndrome	BGS Craniosynostosis With Radial Defects Craniosynostosis-Radial Aplasia Syndrome Craniosynostosis Radial Aplasia Syndrome
Rothmund-Thomson Syndrome, Type 2	Rothmund-Thomson Syndrome Rts RTS2 Poikiloderma Of Rothmund-Thomson Rothmund-Thomson Syndrome Type 2 Congenital Poikiloderma Poikiloderma Congenitale Poikiloderma Atrophicans And Cataract Poikiloderma Congenitale Of Rothmund-Thomson Poikiloderma Of Rothmund-Thomson Type 2 Rothmund-Thomson Syndrome 2 Erythrokeratodermia Variabilis
Ovarian Mucinous Cystadenocarcinoma	Mucinous Cystadenocarcinoma Of Ovary
Malignant Ovarian Cyst
Rapadilino Syndrome	Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate Radial And Patellar Aplasia Radial And Patellar Hypoplasia RAPADILINOS
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P11224	RMI-L4	Inhibitor	/	Unkown
HY-P11841	tP4-CPP12	Inhibitor	/	Unkown
HY-P11842	Ac-HFKLYWPPFLGS-NH2	Inhibitor	/	Unkown
HY-RS12014	RMI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20335	Rmi1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26843	Rmi1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RMI1	VGNC	VGNC:76826
Rattus norvegicus	RMI1	RGD	RGD:1310671
Canis familiaris	RMI1	VGNC	VGNC:45608
Bos taurus	RMI1	VGNC	VGNC:59200
Mus musculus	RMI1	MGD	MGI:1921636
Felis catus	RMI1	VGNC	VGNC:64652
Others	RMI1	NCBI