RMND5A - required for meiotic nuclear division 5 homolog A Gene

Homo sapiens

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

Gene ID: 64795 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17467196	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12017	RMND5A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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