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

Gene ID: 92703, updated on 5-Mar-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 integral component of membrane. Predicted to be part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 33.8), testis (RPKM 23.6) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203007374..203024848)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202270081..202287572)
105.20220307 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)

Genotypes

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_2023_10

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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