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RMND5A - required for meiotic nuclear division 5 homolog A Gene

Also Known as CTLH; GID2; RMD5; GID2A; p44CTLH

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 64795

About RMND5A

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,720,291-86,778,041 (from NCBI)

This gene has 4 transcripts (splice variants), 140 orthologues and 2 paralogues. Ubiquitous expression in esophagus (RPKM 17.5), heart (RPKM 16.4) and 25 other tissues.

Summary

Predicted to enable metal ion binding activity and ubiquitin protein Ligase activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein polyubiquitination. Located in cytoplasm and nucleoplasm. Part of ubiquitin Ligase complex. [provided by Alliance of Genome Resources, Apr 2022]

RMND5A Products (1)

mRNA	Protein	Name
NM_022780.4	NP_073617.1	E3 ubiquitin-protein transferase RMND5A

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	17467196	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytoplasm	IDA IDA: Inferred from direct assay	17467196	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	24143168	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17467196	GOA
part of ubiquitin ligase complex	IDA IDA: Inferred from direct assay	29911972	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

RMND5A Protein Structure

CLTH

zf-RING_UBOX

0
100
200
300
391 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein transferase RMND5A	44-kD protein coding for CTLH motif

RMND5A Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	RMND5A	Q9H871	GID8	Homo sapiens	Q9NWU2	Y2H Array	32296183
Intra	RMND5A	Q9H871	GID8	Homo sapiens	Q9NWU2	Anti Tag CoIP	28514442
Intra	RMND5A	Q9H871	GID8	Homo sapiens	Q9NWU2	Y2H Prey Pooling	32296183
Intra	RMND5A	Q9H871	GID8	Homo sapiens	Q9NWU2	TAP	27173435
Intra	RMND5A	Q9H871	GID8	Homo sapiens	Q9NWU2	Anti Tag CoIP	33961781
Intra	RMND5A	Q9H871	GID8	Homo sapiens	Q9NWU2	Validated Y2H	32296183
Intra	RMND5A	Q9H871	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	RMND5A	Q9H871	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	RMND5A	Q9H871	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	RMND5A	Q9H871	NDUFV1	Homo sapiens	P49821	Validated Y2H	32814053
Intra	RMND5A	Q9H871	NDUFV1	Homo sapiens	P49821	Y2H Array	32814053
Intra	RMND5A	Q9H871	NDUFV1	Homo sapiens	P49821	Y2H Pooling	32814053
Intra	RMND5A	Q9H871	MEOX2	Homo sapiens	P50222	Y2H Prey Pooling	25416956
Intra	RMND5A	Q9H871	MEOX2	Homo sapiens	P50222	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Lissencephaly 1	LIS1 Classic Lissencephaly Ils Subcortical Laminar Heterotopia Lissencephaly Due To Lis1 Mutation Lissencephaly Sequence, Isolated Lissencephaly, Classic Pafah1b1-Related Lissencephaly Classical Lissencephaly Lissencephaly Type 1 Lissencephaly-1 Subcortical Band Heterotopia Double Cortex Lissencephaly Classic Lissencephaly Sequence Isolated Isolated Lissencephaly Sequence Type 1 Lissencephaly Lissencephaly Syndrome Type 1 SBH Sclh Lissencephaly, Type 1 Type I Lissencephaly
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12017	RMND5A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	RMND5A	VGNC	VGNC:33996
Mus musculus	RMND5A	MGD	MGI:1915727
Macaca mulatta	RMND5A	VGNC	VGNC:76829
Canis familiaris	RMND5A	VGNC	VGNC:45610
Felis catus	RMND5A	VGNC	VGNC:64654
Rattus norvegicus	RMND5A	RGD	RGD:1309766
Others	RMND5A	NCBI