RMND5A - required for meiotic nuclear division 5 homolog A Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene 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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17467196 GOA
Cellular Component GO Annotation Evidence References 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

CLTH: CTLH/CRA C-terminal to LisH motif domain (154 - 296)

zf-RING_UBOX

zf-RING_UBOX: RING-type zinc-finger (336 - 375)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2 32296183
Intra
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2 28514442
Intra
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2 32296183
Intra
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2
TAP
27173435
Intra
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2 33961781
Intra
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2 32296183
Intra
RMND5A Q9H871 WFS1 Homo sapiens O76024 32814053
Intra
RMND5A Q9H871 WFS1 Homo sapiens O76024 32814053
Intra
RMND5A Q9H871 WFS1 Homo sapiens O76024 32814053
Intra
RMND5A Q9H871 NDUFV1 Homo sapiens P49821 32814053
Intra
RMND5A Q9H871 NDUFV1 Homo sapiens P49821 32814053
Intra
RMND5A Q9H871 NDUFV1 Homo sapiens P49821 32814053
Intra
RMND5A Q9H871 MEOX2 Homo sapiens P50222 25416956
Intra
RMND5A Q9H871 MEOX2 Homo sapiens P50222 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others RMND5A NCBI