COMMD3 COMM domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COMMD3provided by HGNC
Official Full Name: COMM domain containing 3provided by HGNC
Primary source: HGNC:HGNC:23332
See related: Ensembl:ENSG00000148444 MIM:616700; AllianceGenome:HGNC:23332
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: BUP; C10orf8
Summary: Predicted to be involved in sodium ion transport. Predicted to be located in extracellular region and ficolin-1-rich granule lumen. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in heart (RPKM 26.0), appendix (RPKM 25.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (22316388..22320306)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (22335422..22339340)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (22605317..22609235)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

COMMD3 loss drives invasive breast cancer growth by modulating copper homeostasis.
Title: COMMD3 loss drives invasive breast cancer growth by modulating copper homeostasis.
COMMD3-Mediated Endosomal Trafficking of HER2 Inhibits the Progression of Ovarian Carcinoma.
Title: COMMD3-Mediated Endosomal Trafficking of HER2 Inhibits the Progression of Ovarian Carcinoma.
Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet alpha-granules.
Title: Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet α-granules.
Transcriptional analysis of the expression, prognostic value and immune infiltration activities of the COMMD protein family in hepatocellular carcinoma.
Title: Transcriptional analysis of the expression, prognostic value and immune infiltration activities of the COMMD protein family in hepatocellular carcinoma.
complex determines GRK6 specificity for chemoattractant receptors
Title: The COMMD3/8 complex determines GRK6 specificity for chemoattractant receptors.
Data show that COMMD3 level is elevated in prostate cancer cell models, PDX models, and metastases. A positive correlation between increased COMMD3 expression and disease recurrence and poor survival was found. COMMD3 drives proliferation of normal cells and promotes migration/invasiveness of neoplastic cells. COMMD3:BMI1 fusion protein and COMMD3 regulate C-MYC transcription and C-MYC downstream pathway.
Title: COMMD3:BMI1 Fusion and COMMD3 Protein Regulate C-MYC Transcription: Novel Therapeutic Target for Metastatic Prostate Cancer.

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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

SGC35060 (e-PCR)
- UniSTS:62988

RH64946 (e-PCR)
- UniSTS:3159

SGC34623 (e-PCR)
- UniSTS:65121

D10S2413 (e-PCR)
- UniSTS:78699

RH44345 (e-PCR)
- UniSTS:58823

Readthrough COMMD3-BMI1

Readthrough gene: COMMD3-BMI1, Included gene: BMI1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: COMM domain-containing protein 3

Names: protein Bup

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_012071.4 → NP_036203.1 COMM domain-containing protein 3

See identical proteins and their annotated locations for NP_036203.1

Status: VALIDATED

Source sequence(s)

AF201948, BF695081

Consensus CDS

CCDS7137.1

UniProtKB/Swiss-Prot

D3DRU7, Q5T8Y9, Q9UBI1

UniProtKB/TrEMBL

H0Y4W0

Related

ENSP00000366032.3, ENST00000376836.8

Conserved Domains (1) summary

cd04751
Location:98 → 194

Commd3; COMM_Domain containing protein 3. The COMM Domain is found at the C-terminus of a variety of proteins; presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in protein-protein interactions. Several ...