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    TMEM183BP transmembrane protein 183B, pseudogene [ Homo sapiens (human) ]

    Gene ID: 653659, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM183BPprovided by HGNC
    Official Full Name
    transmembrane protein 183B, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:33205
    See related
    Ensembl:ENSG00000224831 MIM:611365; AllianceGenome:HGNC:33205
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMEM183B; C1ORF37DUP; C1orf37-DUP
    Summary
    This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequent research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq, Jul 2010]
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    Genomic context

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    See TMEM183BP in Genome Data Viewer
    Location:
    3q25.1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149982269..149983308, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152733645..152734684, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (149700056..149701095, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene profilin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14810 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:149688883-149689414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:149689415-149689945 Neighboring gene uncharacterized LOC646903 Neighboring gene peptidylprolyl isomerase A pseudogene 73 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:149710371-149710872 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 24

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup. Yu H, et al. Hum Mol Genet, 2006 Jun 1. PMID 16644869
    2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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 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

    Other Names

    • transmembrane protein 183B

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    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.

    Genomic

    1. NG_070995.1 

      Range
      101..1140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      149982269..149983308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      152733645..152734684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001079809.2: Suppressed sequence

      Description
      NM_001079809.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1AE95.1 GenPept UniProtKB/Swiss-Prot:Q1AE95

    Gene LinkOut

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

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