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COMMD10 COMM domain containing 10 [ Homo sapiens (human) ]

Gene ID: 51397, updated on 3-Nov-2024

Summary

Official Symbol
COMMD10provided by HGNC
Official Full Name
COMM domain containing 10provided by HGNC
Primary source
HGNC:HGNC:30201
See related
Ensembl:ENSG00000145781 MIM:616704; AllianceGenome:HGNC:30201
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
PTD002
Summary
Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 1.4), adrenal (RPKM 1.3) and 25 other tissues See more
Orthologs
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Genomic context

See COMMD10 in Genome Data Viewer
Location:
5q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (116085025..116293287)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (116597411..116805723)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (115420722..115628984)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22941 Neighboring gene DEAD-box helicase 43 pseudogene 1 Neighboring gene laeverin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22942 Neighboring gene ARF like GTPase 14 effector protein like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22944 Neighboring gene Sharpr-MPRA regulatory region 6 Neighboring gene MPRA-validated peak5429 silencer Neighboring gene ribosomal protein S25 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16257 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:115527171-115527671 Neighboring gene RNA, U6 small nuclear 644, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 27 Neighboring gene microRNA 12130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:115696405-115697201 Neighboring gene uncharacterized LOC101927190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16258 Neighboring gene SEMA6A antisense RNA 1 Neighboring gene semaphorin 6A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
EBI GWAS Catalog
Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis.
EBI GWAS Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
EBI GWAS Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ11285

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
COMM domain-containing protein 10

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_001308080.2NP_001295009.1  COMM domain-containing protein 10 isoform b

    See identical proteins and their annotated locations for NP_001295009.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AW662195, BC005179, BI859871, DA001572
    Consensus CDS
    CCDS78049.1
    UniProtKB/TrEMBL
    D6RJ90
    Related
    ENSP00000427319.1, ENST00000515539.5
    Conserved Domains (1) summary
    cd04758
    Location:1187
    Commd10; COMM_Domain containing protein 10. 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_016144.4NP_057228.1  COMM domain-containing protein 10 isoform a

    See identical proteins and their annotated locations for NP_057228.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AW662195, BC005179, HY139221
    Consensus CDS
    CCDS34215.1
    UniProtKB/Swiss-Prot
    D3DT07, Q9P077, Q9Y6G5
    Related
    ENSP00000274458.4, ENST00000274458.9
    Conserved Domains (1) summary
    cd04758
    Location:15201
    Commd10; COMM_Domain containing protein 10. 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 ...

RNA

  1. NR_146218.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC109456, BC005179, DB300445, HY139221
  2. NR_146219.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC109456, BC005179, DB300445, HY134365
  3. NR_146220.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC109456, BC005179, DB300445, HY139221

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    116085025..116293287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    116597411..116805723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)