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

    Gene ID: 256815, updated on 28-Oct-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, Oct 2024]
    Expression
    Biased expression in testis (RPKM 1.5), lung (RPKM 0.5) and 2 other tissues See more
    Orthologs
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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