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    C1orf162 chromosome 1 open reading frame 162 [ Homo sapiens (human) ]

    Gene ID: 128346, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C1orf162provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 162provided by HGNC
    Primary source
    HGNC:HGNC:28344
    See related
    Ensembl:ENSG00000143110 AllianceGenome:HGNC:28344
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 7.0), appendix (RPKM 5.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf162 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111473984..111478512)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111481202..111493194)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (112016606..112021134)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1496 Neighboring gene WD repeat domain 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1497 Neighboring gene ATP synthase peripheral stalk-membrane subunit b Neighboring gene transmembrane and immunoglobulin domain containing 3 Neighboring gene RNA, U6 small nuclear 792, pseudogene Neighboring gene adenosine A3 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. The SARS-coronavirus-host interactome: identification of cyclophilins as target for pan-coronavirus inhibitors. Pfefferle S, et al. PLoS Pathog, 2011 Oct. PMID 22046132, Free PMC Article
    2. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098
    3. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, 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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    Markers

    Homology

    Clone Names

    • MGC24133

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein C1orf162

    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_001300834.2 → NP_001287763.1  transmembrane protein C1orf162 isoform 2

      See identical proteins and their annotated locations for NP_001287763.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BG545926, CA439311
      Consensus CDS
      CCDS72837.1
      UniProtKB/Swiss-Prot
      Q8NEQ5
      Related
      ENSP00000358732.3, ENST00000369718.4
      Conserved Domains (2) summary
      pfam15179
      Location:21 → 62
      Myc_target_1; Myc target protein 1
      cl27601
      Location:46 → 100
      Pectinesterase; Pectinesterase

    2. NM_001300835.2 → NP_001287764.1  transmembrane protein C1orf162 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AA333542, CA439311, HX785231

    3. NM_174896.4 → NP_777556.1  transmembrane protein C1orf162 isoform 1

      See identical proteins and their annotated locations for NP_777556.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC017973, CA439311
      Consensus CDS
      CCDS837.1
      UniProtKB/Swiss-Prot
      Q5QNZ1, Q8NEQ5
      Related
      ENSP00000344218.5, ENST00000343534.9
      Conserved Domains (1) summary
      pfam15179
      Location:21 → 97
      Myc_target_1; Myc target protein 1

    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
      111473984..111478512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446258.1 → XP_047302214.1  transmembrane protein C1orf162 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      111481202..111493194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334454.1 → XP_054190429.1  transmembrane protein C1orf162 isoform X2

      UniProtKB/Swiss-Prot
      Q5QNZ1, Q8NEQ5

    2. XM_054334455.1 → XP_054190430.1  transmembrane protein C1orf162 isoform X3

    3. XM_054334456.1 → XP_054190431.1  transmembrane protein C1orf162 isoform X4

    4. XM_054334457.1 → XP_054190432.1  transmembrane protein C1orf162 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEQ5.1 GenPept UniProtKB/Swiss-Prot:Q8NEQ5

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