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    C18orf32 chromosome 18 open reading frame 32 [ Homo sapiens (human) ]

    Gene ID: 497661, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C18orf32provided by HGNC
    Official Full Name
    chromosome 18 open reading frame 32provided by HGNC
    Primary source
    HGNC:HGNC:31690
    See related
    Ensembl:ENSG00000177576 MIM:619979; AllianceGenome:HGNC:31690
    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
    GPIBD25
    Summary
    Involved in positive regulation of canonical NF-kappaB signal transduction. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 45.1), kidney (RPKM 32.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C18orf32 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49477243..49487234, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49674978..49684975, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47003613..47013604, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene dymeclin Neighboring gene uncharacterized LOC124904298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46713027-46713528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46713529-46714028 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:46729371-46730248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13308 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46845924-46846499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9448 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46991502-46992276 Neighboring gene RPL17-C18orf32 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13309 Neighboring gene proline rich 13 pseudogene 4 Neighboring gene small nucleolar RNA, C/D box 58C Neighboring gene microRNA 1539 Neighboring gene ribosomal protein L17

    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. C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures. Salian S, et al. Hum Genet, 2022 Aug. PMID 35107634
    2. N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing. Liu YS, et al. J Cell Biol, 2018 Feb 5. PMID 29255114, Free PMC Article
    3. A Proximity Labeling Strategy Provides Insights into the Composition and Dynamics of Lipid Droplet Proteomes. Bersuker K, et al. Dev Cell, 2018 Jan 8. PMID 29275994, Free PMC Article
    4. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. Huang X, et al. Mol Endocrinol, 2013 Sep. PMID 23864651, Free PMC Article
    5. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. Matsuda A, et al. Oncogene, 2003 May 22. PMID 12761501

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
      Title: C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
    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

    Associated conditions

    Description Tests
    Glycosylphosphatidylinositol biosynthesis defect 25
    MedGen: C5774191 OMIM: 619985 GeneReviews: Not available
    		not available

    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

    • FLJ23458

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UPF0729 protein C18orf32
    Names
    putative NF-kappa-B-activating protein 200
    putative NFkB activating protein

    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_001035005.4 → NP_001030177.1  UPF0729 protein C18orf32

      See identical proteins and their annotated locations for NP_001030177.1

      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)
      AC100778, BC022357, BC093004, BF210402, BF512018, BP395434, CB852935
      Consensus CDS
      CCDS32831.1
      UniProtKB/Swiss-Prot
      Q8TCD1
      Related
      ENSP00000323199.3, ENST00000318240.8
      Conserved Domains (1) summary
      pfam14975
      Location:2 → 47
      DUF4512; Domain of unknown function (DUF4512)

    2. NM_001199346.2 → NP_001186275.1  UPF0729 protein C18orf32

      See identical proteins and their annotated locations for NP_001186275.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC100778, BC022357, BF512018, BP395434, CB852935
      Consensus CDS
      CCDS32831.1
      UniProtKB/Swiss-Prot
      Q8TCD1
      Related
      ENSP00000480941.1, ENST00000613385.4
      Conserved Domains (1) summary
      pfam14975
      Location:2 → 47
      DUF4512; Domain of unknown function (DUF4512)

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      49477243..49487234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      49674978..49684975 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCD1.1 GenPept UniProtKB/Swiss-Prot:Q8TCD1

    Gene LinkOut

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

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