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

Gene ID: 29099, updated on 7-Apr-2024

Summary

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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, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 8.8), brain (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11p13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (36272292..36289424, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (36412278..36429767, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (36293842..36310974, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene low density lipoprotein receptor class A domain containing 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:36039319-36040518 Neighboring gene Sharpr-MPRA regulatory region 260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:36060221-36060728 Neighboring gene microRNA 3973 Neighboring gene uncharacterized LOC101928510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36111937-36112464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36112465-36112991 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21313 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36127161-36128105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36128106-36129049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:36129695-36130220 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36130221-36130744 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36131269-36131792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36132843-36133366 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36165205-36165812 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:36170828-36172027 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21355 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:36200889-36201107 Neighboring gene Sharpr-MPRA regulatory region 9208 Neighboring gene Sharpr-MPRA regulatory region 15199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36310336-36311038 Neighboring gene proline rich 5 like Neighboring gene Sharpr-MPRA regulatory region 5372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:36398745-36399316 Neighboring gene Sharpr-MPRA regulatory region 14138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:36476801-36477325 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:36522348-36523547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4633 Neighboring gene TNF receptor associated factor 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. COMMD9 promotes TFDP1/E2F1 transcriptional activity via interaction with TFDP1 in non-small cell lung cancer. Zhan W, et al. Cell Signal, 2017 Jan. PMID 27871936
  2. COMMD proteins, a novel family of structural and functional homologs of MURR1. Burstein E, et al. J Biol Chem, 2005 Jun 10. PMID 15799966
  3. COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding. Mao X, et al. J Biol Chem, 2011 Sep 16. PMID 21778237, Free PMC Article
  4. CCDC22 deficiency in humans blunts activation of proinflammatory NF-ÎşB signaling. Starokadomskyy P, et al. J Clin Invest, 2013 May. PMID 23563313, Free PMC Article
  5. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. Phillips-Krawczak CA, et al. Mol Biol Cell, 2015 Jan 1. PMID 25355947, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31106, FLJ45212

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)

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    36272292..36289424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    36412278..36429767 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207428.2: Suppressed sequence

    Description
    NM_207428.2: This RefSeq was permanently suppressed because it is mostly repetitive sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P000.2 GenPept UniProtKB/Swiss-Prot:Q9P000

Gene LinkOut

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