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TMEM189 transmembrane protein 189 [ Homo sapiens (human) ]

Gene ID: 387521, updated on 29-Mar-2020

Summary

Official Symbol
TMEM189provided by HGNC
Official Full Name
transmembrane protein 189provided by HGNC
Primary source
HGNC:HGNC:16735
See related
Ensembl:ENSG00000240849 MIM:610994
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KUA; CarF
Summary
Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Expression
Ubiquitous expression in placenta (RPKM 19.8), esophagus (RPKM 14.6) and 25 other tissues See more
Orthologs

Genomic context

See TMEM189 in Genome Data Viewer
Location:
20q13.13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (50118254..50153798, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (48740274..48770335, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372655 Neighboring gene TMEM189-UBE2V1 readthrough Neighboring gene ubiquitin conjugating enzyme E2 V1 Neighboring gene long intergenic non-protein coding RNA 1275 Neighboring gene long intergenic non-protein coding RNA 1273

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough TMEM189-UBE2V1

Readthrough gene: TMEM189-UBE2V1, Included gene: UBE2V1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
plasmanylethanolamine desaturase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ether lipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 189
NP_001155977.1
NP_954580.1

NCBI Reference Sequences (RefSeq)

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_001162505.1NP_001155977.1  transmembrane protein 189 isoform 2

    See identical proteins and their annotated locations for NP_001155977.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AF155120, BC144612
    Consensus CDS
    CCDS54473.1
    UniProtKB/Swiss-Prot
    A5PLL7
    Related
    ENSP00000360713.5, ENST00000371650.9
    Conserved Domains (1) summary
    pfam10520
    Location:85258
    TMEM189_B_dmain; B domain of TMEM189, localization domain
  2. NM_199129.3NP_954580.1  transmembrane protein 189 isoform 1

    See identical proteins and their annotated locations for NP_954580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF155120, AK023028, AL034423
    Consensus CDS
    CCDS13428.1
    UniProtKB/Swiss-Prot
    A5PLL7
    Related
    ENSP00000360715.4, ENST00000371652.9
    Conserved Domains (1) summary
    pfam10520
    Location:85261
    TMEM189_B_dmain; B domain of TMEM189, localization domain

RNA

  1. NR_027889.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF155120, BC144612
    Related
    ENST00000453505.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    50118254..50153798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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