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

Gene ID: 497661, updated on 29-Mar-2023

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 I-kappaB kinase/NF-kappaB signaling. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 45.1), kidney (RPKM 32.7) and 25 other tissues See more
Orthologs
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49477243..49487234, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49674978..49684975, complement)
105.20220307 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 OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46991502-46992276 Neighboring gene proline rich 13 pseudogene 4 Neighboring gene RPL17-C18orf32 readthrough Neighboring gene microRNA 1539 Neighboring gene small nucleolar RNA, C/D box 58C 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 (12) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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: CN315915 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)

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

  • 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 I-kappaB kinase/NF-kappaB signaling 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_2023_03

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.

Chemical Information
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