RMND5A required for meiotic nuclear division 5 homolog A [Homo sapiens (human)] - Gene

Summary

Official Symbol: RMND5Aprovided by HGNC
Official Full Name: required for meiotic nuclear division 5 homolog Aprovided by HGNC
Primary source: HGNC:HGNC:25850
See related: Ensembl:ENSG00000153561 MIM:618964; AllianceGenome:HGNC:25850
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTLH; GID2; RMD5; GID2A; p44CTLH
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, Nov 2024]
Expression: Ubiquitous expression in esophagus (RPKM 17.5), heart (RPKM 16.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p11.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (86720291..86778041)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (86722276..86779939)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (86947414..87005164)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Non-canonical substrate recognition by the human WDR26-CTLH E3 ligase regulates prodrug metabolism.
Title: Non-canonical substrate recognition by the human WDR26-CTLH E3 ligase regulates prodrug metabolism.
GID2 Interacts With CDKN3 and Regulates Pancreatic Cancer Growth and Apoptosis.
Title: GID2 Interacts With CDKN3 and Regulates Pancreatic Cancer Growth and Apoptosis.
The study identifies a miR-138-RMND5A-Exportin-5 as a previously unknown miRNA processing regulatory pathway in HeLa cells.
Title: MiR-138 downregulates miRNA processing in HeLa cells by targeting RMND5A and decreasing Exportin-5 stability.
Duplications of this region involving RMND5A, whose product contains a C-terminal to lis homology (LisH) domain, have not previously been associated with a defined phenotype but may present insight into encephalocele formation.
Title: Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele.
RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells.
Title: RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16449 (e-PCR)
- UniSTS:6925

SHGC-14271 (e-PCR)
- UniSTS:2320

WIAF-2105 (e-PCR)
- UniSTS:44821

RH120543 (e-PCR)
- UniSTS:133708

D2S2130 (e-PCR)
- UniSTS:154201

RH79869 (e-PCR)
- UniSTS:88183

A007J05 (e-PCR)
- UniSTS:23416

A002T29 (e-PCR)
- UniSTS:39808

SHGC-33869 (e-PCR)
- UniSTS:24979

RH66712 (e-PCR)
- UniSTS:32675

SHGC-34184 (e-PCR)
- UniSTS:2762

RH68717 (e-PCR)
- UniSTS:73195

RH41923 (e-PCR)
- UniSTS:70644

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info
contributes_to ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of GID complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: E3 ubiquitin-protein transferase RMND5A

Names: 44-kD protein coding for CTLH motif; C-terminal to LisH motif, 44 kDa; GID complex subunit 2 homolog A; protein RMD5 homolog A

NP_073617.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_022780.4 → NP_073617.1 E3 ubiquitin-protein transferase RMND5A

See identical proteins and their annotated locations for NP_073617.1

Status: VALIDATED

Source sequence(s)

AC064848, AK023972, BC012165, BC047668, BU620245

Consensus CDS

CCDS1991.1

UniProtKB/Swiss-Prot

D6W5M6, Q6NTF0, Q9H6W5, Q9H871, Q9H9H2

Related

ENSP00000283632.4, ENST00000283632.5

Conserved Domains (2) summary

COG5109
Location:17 → 391

COG5109; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]

pfam10607
Location:153 → 297

CLTH; CTLH/CRA C-terminal to LisH motif domain