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    TMEM183A transmembrane protein 183A [ Homo sapiens (human) ]

    Gene ID: 92703, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM183Aprovided by HGNC
    Official Full Name
    transmembrane protein 183Aprovided by HGNC
    Primary source
    HGNC:HGNC:20173
    See related
    Ensembl:ENSG00000163444 AllianceGenome:HGNC:20173
    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
    C1orf37
    Summary
    Predicted to be involved in regulation of protein stability. Predicted to be located in membrane. Predicted to be part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 33.8), testis (RPKM 23.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM183A in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203007374..203024848)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202270081..202287572)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202976502..202993976)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1713 Neighboring gene Sharpr-MPRA regulatory region 11869 Neighboring gene cytochrome b5 reductase 1 Neighboring gene MGAT4 family member F, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr1.10803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:202975854-202976628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:202976629-202977401 Neighboring gene ribosomal protein S20 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202995545-202996066 Neighboring gene PTPRF interacting protein alpha 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203010223-203010724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203010725-203011224 Neighboring gene Sharpr-MPRA regulatory region 9252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203013943-203014581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203014582-203015219 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:203015372-203015574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203017091-203017988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203020635-203021176 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:203023677-203024428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203024429-203025180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:203030137-203030721 Neighboring gene uncharacterized LOC105371687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203044947-203045682 Neighboring gene myogenin promoter associated myogenic regulatory antisense long non coding RNA Neighboring gene myogenin

    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. 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. Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3. Davidsson J, et al. Hum Mol Genet, 2007 Sep 15. PMID 17613536
    3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175, Free PMC Article
    4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    5. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    2. B4GALT3, DAP3, RGS16, TMEM183A and UCK2--were significantly overexpressed in dup(1q)-positive ALLs compared with high hyperdiploid ALLs without dup(1q).
      Title: Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3.
    3. c1orf37-dup encodes a novel transmembrane protein in humans which potentially endows new properties to cell surface interactions
      Title: Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup.
    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

    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

    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 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
    		  

    General protein information

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    Preferred Names
    transmembrane protein 183A

    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_053085.1 RefSeqGene

      Range
      5008..22482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001322955.2 → NP_001309884.1  transmembrane protein 183A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes isoform 2.
      Source sequence(s)
      AC096632

    2. NM_001322956.2 → NP_001309885.1  transmembrane protein 183A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes isoform 3.
      Source sequence(s)
      AC096632
      UniProtKB/Swiss-Prot
      Q1AE95, Q1AE97

    3. NM_001322957.2 → NP_001309886.1  transmembrane protein 183A isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes isoform 4.
      Source sequence(s)
      AC096632

    4. NM_001322958.2 → NP_001309887.1  transmembrane protein 183A isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) encodes isoform 5.
      Source sequence(s)
      AC096632
      UniProtKB/Swiss-Prot
      Q1AE95, Q1AE97

    5. NM_001322959.2 → NP_001309888.1  transmembrane protein 183A isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) encodes isoform 6.
      Source sequence(s)
      AC096632
      UniProtKB/Swiss-Prot
      Q1AE95, Q1AE97

    6. NM_001349859.1 → NP_001336788.1  transmembrane protein 183A isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) encodes isoform 7.
      Source sequence(s)
      AC096632

    7. NM_001349862.1 → NP_001336791.1  transmembrane protein 183A isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) encodes isoform 8.
      Source sequence(s)
      AC096632
      UniProtKB/TrEMBL
      B4DLZ3

    8. NM_138391.6 → NP_612400.3  transmembrane protein 183A isoform 1

      See identical proteins and their annotated locations for NP_612400.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC096632, AK291426, DC364887
      Consensus CDS
      CCDS1432.1
      UniProtKB/Swiss-Prot
      A8K5W1, Q1AE95, Q1AE97, Q6NW15, Q8IXX5, Q96E06
      Related
      ENSP00000356211.3, ENST00000367242.4

    RNA

    1. NR_136530.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    2. NR_136531.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    3. NR_136532.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    4. NR_136533.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    5. NR_136534.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    6. NR_146285.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    7. NR_146286.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    8. NR_146287.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    9. NR_146288.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    10. NR_146289.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC096632

    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
      203007374..203024848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      202270081..202287572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXX5.2 GenPept UniProtKB/Swiss-Prot:Q8IXX5

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