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C10orf67 chromosome 10 open reading frame 67 [ Homo sapiens (human) ]

Gene ID: 256815, updated on 2-Nov-2024

Summary

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Official Symbol
C10orf67provided by HGNC
Official Full Name
chromosome 10 open reading frame 67provided by HGNC
Primary source
HGNC:HGNC:28716
See related
Ensembl:ENSG00000179133 AllianceGenome:HGNC:28716
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
C10orf115; LINC01552
Summary
Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 1.5), lung (RPKM 0.5) and 2 other tissues See more
Orthologs
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Genomic context

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See C10orf67 in Genome Data Viewer
Location:
10p12.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (23201916..23344797, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (23220910..23364923, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (23490845..23633726, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:23484130-23484885 Neighboring gene pancreas associated transcription factor 1a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3151 Neighboring gene C10orf67 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3018 Neighboring gene uncharacterized LOC124902591 Neighboring gene NANOG hESC enhancer GRCh37_chr10:23698923-23699424 Neighboring gene MPRA-validated peak907 silencer Neighboring gene MPRA-validated peak908 silencer Neighboring gene MIR1254-2-OTUD1 intergenic CAGE-defined monocyte enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2219 Neighboring gene OTU deubiquitinase 1

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 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. Convergent genomic signatures of high-altitude adaptation among domestic mammals. Wu DD, et al. Natl Sci Rev, 2020 Jun. PMID 34692117, Free PMC Article
  2. Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2. Franke A, et al. Gastroenterology, 2008 Oct. PMID 18723019
  3. Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins. Thiébaut R, et al. PLoS One, 2016. PMID 27812135, Free PMC Article
  4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
  5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.
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

EBI GWAS Catalog

Description
Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.
EBI GWAS Catalog

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

  • MGC46732

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 mitochondrion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
uncharacterized protein C10orf67, mitochondrial
Names
long intergenic non-protein coding RNA 1552

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_001351306.2 → NP_001338235.1  uncharacterized protein C10orf67, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL592296, AL606469, BC035732
    UniProtKB/TrEMBL
    A0A3B3IRX4
    Related
    ENSP00000497121.1, ENST00000649478.1
    Conserved Domains (1) summary
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)

  2. NM_001365862.2 → NP_001352791.1  uncharacterized protein C10orf67, mitochondrial isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL139281, AL592296, AL606469
    UniProtKB/Swiss-Prot
    A8MUP9, Q5QP74, Q5SWD4, Q8IYJ2
    Conserved Domains (3) summary
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)
    pfam15852
    Location:458 → 544
    DUF4724; Domain of unknown function (DUF4724)
    cl25732
    Location:208 → 439
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_001371909.1 → NP_001358838.1  uncharacterized protein C10orf67, mitochondrial isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL139281, AL592296, AL606469
    Consensus CDS
    CCDS91221.1
    UniProtKB/TrEMBL
    A0A6E2AE84
    Related
    ENSP00000490528.2, ENST00000636213.3
    Conserved Domains (3) summary
    COG1196
    Location:97 → 441
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15852
    Location:457 → 545
    DUF4724; Domain of unknown function (DUF4724)
    pfam15821
    Location:69 → 178
    DUF4709; Domain of unknown function (DUF4709)

  4. NM_153714.3 → NP_714925.2  uncharacterized protein C10orf67, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_714925.2

    Status: VALIDATED

    Source sequence(s)
    AL592296, AL606469
    Consensus CDS
    CCDS44365.1
    UniProtKB/TrEMBL
    A0A6E1W0W4
    Related
    ENSP00000501139.1, ENST00000673651.1
    Conserved Domains (1) summary
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    23201916..23344797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016031.2 → XP_016871520.1  uncharacterized protein C10orf67, mitochondrial isoform X3

  2. XM_047424968.1 → XP_047280924.1  uncharacterized protein C10orf67, mitochondrial isoform X1

  3. XM_011519443.2 → XP_011517745.1  uncharacterized protein C10orf67, mitochondrial isoform X7

    Conserved Domains (1) summary
    pfam15852
    Location:184 → 270
    DUF4724; Domain of unknown function (DUF4724)

  4. XM_047424970.1 → XP_047280926.1  uncharacterized protein C10orf67, mitochondrial isoform X2

    Related
    ENSP00000490237.1, ENST00000376501.7

  5. XM_011519440.2 → XP_011517742.1  uncharacterized protein C10orf67, mitochondrial isoform X4

    UniProtKB/TrEMBL
    A0A1B0GUT5
    Conserved Domains (2) summary
    pfam13118
    Location:266 → 317
    DUF3972; Protein of unknown function (DUF3972)
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)

  6. XM_011519441.2 → XP_011517743.1  uncharacterized protein C10orf67, mitochondrial isoform X5

    UniProtKB/TrEMBL
    A0A1B0GUT5
    Conserved Domains (2) summary
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)
    cl19548
    Location:100 → 405
    DUF515; Protein of unknown function (DUF515)

  7. XM_011519442.3 → XP_011517744.1  uncharacterized protein C10orf67, mitochondrial isoform X6

    UniProtKB/TrEMBL
    A0A1B0GUT5
    Conserved Domains (2) summary
    pfam13118
    Location:266 → 317
    DUF3972; Protein of unknown function (DUF3972)
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)

  8. XM_011519445.3 → XP_011517747.1  uncharacterized protein C10orf67, mitochondrial isoform X8

    UniProtKB/TrEMBL
    A0A6E1W0W4
    Conserved Domains (1) summary
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)

  9. XM_011519446.2 → XP_011517748.1  uncharacterized protein C10orf67, mitochondrial isoform X9

    See identical proteins and their annotated locations for XP_011517748.1

    UniProtKB/TrEMBL
    A0A6E1W0W4
    Conserved Domains (1) summary
    pfam15821
    Location:70 → 179
    DUF4709; Domain of unknown function (DUF4709)

RNA

  1. XR_930487.2 RNA Sequence

  2. XR_930488.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    23220910..23364923 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365424.1 → XP_054221399.1  uncharacterized protein C10orf67, mitochondrial isoform X3

  2. XM_054365422.1 → XP_054221397.1  uncharacterized protein C10orf67, mitochondrial isoform X1

  3. XM_054365428.1 → XP_054221403.1  uncharacterized protein C10orf67, mitochondrial isoform X7

  4. XM_054365423.1 → XP_054221398.1  uncharacterized protein C10orf67, mitochondrial isoform X2

  5. XM_054365425.1 → XP_054221400.1  uncharacterized protein C10orf67, mitochondrial isoform X4

  6. XM_054365426.1 → XP_054221401.1  uncharacterized protein C10orf67, mitochondrial isoform X5

  7. XM_054365427.1 → XP_054221402.1  uncharacterized protein C10orf67, mitochondrial isoform X6

  8. XM_054365429.1 → XP_054221404.1  uncharacterized protein C10orf67, mitochondrial isoform X8

  9. XM_054365430.1 → XP_054221405.1  uncharacterized protein C10orf67, mitochondrial isoform X9

RNA

  1. XR_008488190.1 RNA Sequence

  2. XR_008488191.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYJ2.3 GenPept UniProtKB/Swiss-Prot:Q8IYJ2

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