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    C1orf210 chromosome 1 open reading frame 210 [ Homo sapiens (human) ]

    Gene ID: 149466, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1orf210provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 210provided by HGNC
    Primary source
    HGNC:HGNC:28755
    See related
    Ensembl:ENSG00000253313 MIM:620582; AllianceGenome:HGNC:28755
    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
    TEMP
    Summary
    Predicted to be located in early endosome; plasma membrane; and recycling endosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in duodenum (RPKM 14.2), small intestine (RPKM 12.7) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf210 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43281877..43285857, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43152383..43156345, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43747548..43751252, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378685 Neighboring gene cilia and flagella associated protein 57 Neighboring gene uncharacterized LOC124904164 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43735285-43735788 Neighboring gene transmembrane protein 125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751233-43751791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751792-43752349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 915 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813 Neighboring gene tyrosine kinase with immunoglobulin like and EGF like domains 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43813871-43814842 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43814843-43815813 Neighboring gene MPL proto-oncogene, thrombopoietin receptor

    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. A Novel Type III Endosome Transmembrane Protein, TEMP. Aturaliya RN, et al. Cells, 2012 Nov 5. PMID 24710541, Free PMC Article
    2. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
    3. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Homology

    Clone Names

    • MGC52423

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    type III endosome membrane protein TEMP

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001164829.2 → NP_001158301.1  type III endosome membrane protein TEMP

      See identical proteins and their annotated locations for NP_001158301.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093420, AL696898, BC041633
      Consensus CDS
      CCDS481.1
      UniProtKB/Swiss-Prot
      D3DPX2, Q8IVY1
      Related
      ENSP00000429399.1, ENST00000423420.1
      Conserved Domains (1) summary
      pfam15176
      Location:21 → 97
      LRR19-TM; Leucine-rich repeat family 19 TM domain

    2. NM_182517.3 → NP_872323.1  type III endosome membrane protein TEMP

      See identical proteins and their annotated locations for NP_872323.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093420, BC041633, BM273035, BM784450
      Consensus CDS
      CCDS481.1
      UniProtKB/Swiss-Prot
      D3DPX2, Q8IVY1
      Related
      ENSP00000430918.1, ENST00000523677.6
      Conserved Domains (1) summary
      pfam15176
      Location:21 → 97
      LRR19-TM; Leucine-rich repeat family 19 TM domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43281877..43285857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540802.3 → XP_011539104.1  type III endosome membrane protein TEMP isoform X1

      See identical proteins and their annotated locations for XP_011539104.1

      UniProtKB/Swiss-Prot
      D3DPX2, Q8IVY1
      Conserved Domains (1) summary
      pfam15176
      Location:21 → 97
      LRR19-TM; Leucine-rich repeat family 19 TM domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43152383..43156345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334659.1 → XP_054190634.1  type III endosome membrane protein TEMP isoform X1

      UniProtKB/Swiss-Prot
      D3DPX2, Q8IVY1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVY1.1 GenPept UniProtKB/Swiss-Prot:Q8IVY1

    Gene LinkOut

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