COMMD9 COMM domain containing 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COMMD9provided by HGNC
Official Full Name: COMM domain containing 9provided by HGNC
Primary source: HGNC:HGNC:25014
See related: Ensembl:ENSG00000110442 MIM:612299; AllianceGenome:HGNC:25014
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: HSPC166; C11orf55; LINC00610
Summary: Predicted to be involved in sodium ion transport. Predicted to act upstream of or within cholesterol homeostasis. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 8.8), brain (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (36272292..36289424, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (36412278..36429767, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (36293842..36310974, complement)

Chromosome 11 - NC_000011.10 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 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?

COMMD9 participates in TFDP1/E2F1 activation and plays a critical role in non-small cell lung cancer.
Title: COMMD9 promotes TFDP1/E2F1 transcriptional activity via interaction with TFDP1 in non-small cell lung cancer.

Submit: New GeneRIF Correction

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

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

ksks33 (e-PCR)
- UniSTS:514375

D11S2307E (e-PCR)
- UniSTS:53610

D1S1423 (e-PCR)
- UniSTS:149619

COMMD9_9578 (e-PCR)
- UniSTS:468352

RH64870 (e-PCR)
- UniSTS:39924

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 cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
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 nucleoplasm	IDA Inferred from Direct Assay more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: COMM domain-containing protein 9

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_001101653.2 → NP_001095123.1 COMM domain-containing protein 9 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC087277

Consensus CDS

CCDS44571.1

UniProtKB/TrEMBL

Q53FR9

Related

ENSP00000392510.2, ENST00000452374.6

Conserved Domains (1) summary

cd04757
Location:48 → 155

Commd9; COMM_Domain containing protein 9. 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 ...
NM_001307932.2 → NP_001294861.1 COMM domain-containing protein 9 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region, which causes a frameshift compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC087277

Consensus CDS

CCDS76395.1

UniProtKB/TrEMBL

E9PJ95

Related

ENSP00000435599.1, ENST00000532705.1

Conserved Domains (1) summary

cl06336
Location:16 → 105

Commd; COMM_Domain, a family of domains found at the C-terminus of HCarG, the copper metabolism gene MURR1 product, and related proteins. Presumably all COMM_Domain containing proteins are located in the nucleus and the COMM domain plays a role in ...
NM_001307937.2 → NP_001294866.1 COMM domain-containing protein 9 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate exon in the 5' coding region, which results in use of an alternate start codon compared to variant 1. It encodes isoform 4, which is shorter than and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC087277

UniProtKB/TrEMBL

B4DQW0

Conserved Domains (1) summary

cd04757
Location:81 → 188

Commd9; COMM_Domain containing protein 9. 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 ...
NM_014186.4 → NP_054905.2 COMM domain-containing protein 9 isoform 1

See identical proteins and their annotated locations for NP_054905.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC087277

Consensus CDS

CCDS7900.1

UniProtKB/Swiss-Prot

E9PAN2, Q96FI2, Q9H0R0, Q9P000

UniProtKB/TrEMBL

B4DQW0, Q53FR9

Related

ENSP00000263401.5, ENST00000263401.10

Conserved Domains (1) summary

cd04757
Location:90 → 197

Commd9; COMM_Domain containing protein 9. 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 ...