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TMEM129 transmembrane protein 129, E3 ubiquitin ligase [ Homo sapiens (human) ]

Gene ID: 92305, updated on 22-Sep-2022

Summary

Official Symbol
TMEM129provided by HGNC
Official Full Name
transmembrane protein 129, E3 ubiquitin ligaseprovided by HGNC
Primary source
HGNC:HGNC:25137
See related
Ensembl:ENSG00000168936 MIM:615975; AllianceGenome:HGNC:25137
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
D4S2561E
Summary
Enables ubiquitin protein ligase activity. Involved in protein polyubiquitination; retrograde protein transport, ER to cytosol; and ubiquitin-dependent ERAD pathway. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 11.0), thyroid (RPKM 10.1) and 25 other tissues See more
Orthologs
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Genomic context

See TMEM129 in Genome Data Viewer
Location:
4p16.3
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1715952..1721323, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1713779..1719151, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1717679..1723050, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 53 member A Neighboring gene uncharacterized LOC105374349 Neighboring gene stem-loop binding protein Neighboring gene uncharacterized LOC112268460 Neighboring gene transforming acidic coiled-coil containing protein 3 Neighboring gene uncharacterized LOC124900648

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?

Phenotypes

EBI GWAS Catalog

Description
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
EBI GWAS Catalog
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin protein ligase activity EXP
Inferred from Experiment
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination TAS
Traceable Author Statement
more info
 
involved_in response to unfolded protein IEA
Inferred from Electronic Annotation
more info
 
involved_in retrograde protein transport, ER to cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase TM129
Names
RING-type E3 ubiquitin transferase TM129
transmembrane protein 129, E3 ubiquitin protein ligase
NP_001120738.1
NP_612394.1

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_001127266.2NP_001120738.1  E3 ubiquitin-protein ligase TM129 isoform a

    See identical proteins and their annotated locations for NP_001120738.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC009331, BC126370
    Consensus CDS
    CCDS46998.1
    UniProtKB/Swiss-Prot
    A0AVI4, D3DVP8
    Related
    ENSP00000372394.3, ENST00000382936.8
    Conserved Domains (1) summary
    pfam10272
    Location:17359
    Tmpp129; Putative transmembrane protein precursor
  2. NM_138385.4NP_612394.1  E3 ubiquitin-protein ligase TM129 isoform b

    See identical proteins and their annotated locations for NP_612394.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC009331, BC126370
    Consensus CDS
    CCDS3351.1
    UniProtKB/Swiss-Prot
    A0AVI4
    Related
    ENSP00000305243.2, ENST00000303277.6
    Conserved Domains (1) summary
    pfam10272
    Location:17226
    Tmpp129; Putative transmembrane protein precursor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    1715952..1721323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    1713779..1719151 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)