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Aliases for TMEM129 Gene

Aliases for TMEM129 Gene

  • Transmembrane Protein 129 2 3 5
  • Transmembrane Protein 129, E3 Ubiquitin Protein Ligase 2 3
  • EC 6.3.2.- 4
  • D4S2561E 3

External Ids for TMEM129 Gene

Previous GeneCards Identifiers for TMEM129 Gene

  • GC04M001687
  • GC04M001717
  • GC04M001660

Summaries for TMEM129 Gene

GeneCards Summary for TMEM129 Gene

TMEM129 (Transmembrane Protein 129) is a Protein Coding gene. Diseases associated with TMEM129 include urinary bladder cancer. GO annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot for TMEM129 Gene

  • E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM129 Gene

Genomics for TMEM129 Gene

Regulatory Elements for TMEM129 Gene

Promoters for TMEM129 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM129 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM129 Gene

Chromosome:
4
Start:
1,715,952 bp from pter
End:
1,721,358 bp from pter
Size:
5,407 bases
Orientation:
Minus strand

Genomic View for TMEM129 Gene

Genes around TMEM129 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM129 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM129 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM129 Gene

Proteins for TMEM129 Gene

  • Protein details for TMEM129 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0AVI4-TM129_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase TM129
    Protein Accession:
    A0AVI4
    Secondary Accessions:
    • A6NH49
    • A6NI98
    • D3DVP8

    Protein attributes for TMEM129 Gene

    Size:
    362 amino acids
    Molecular mass:
    40464 Da
    Quaternary structure:
    • Integral component of ER-resident dislocation complexes.

    Alternative splice isoforms for TMEM129 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM129 Gene

Proteomics data for TMEM129 Gene at MOPED

Post-translational modifications for TMEM129 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM129 Gene

No data available for DME Specific Peptides for TMEM129 Gene

Domains & Families for TMEM129 Gene

Protein Domains for TMEM129 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM129 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A0AVI4

UniProtKB/Swiss-Prot:

TM129_HUMAN :
  • The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity.
  • Belongs to the TMEM129 family.
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity.
Family:
  • Belongs to the TMEM129 family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with TMEM129: view

No data available for Gene Families for TMEM129 Gene

Function for TMEM129 Gene

Molecular function for TMEM129 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation.

Enzyme Numbers (IUBMB) for TMEM129 Gene

Gene Ontology (GO) - Molecular Function for TMEM129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with TMEM129: view
genes like me logo Genes that share phenotypes with TMEM129: view

Animal Model Products

CRISPR Products

miRNA for TMEM129 Gene

miRTarBase miRNAs that target TMEM129

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM129 Gene

Localization for TMEM129 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM129 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM129 Gene COMPARTMENTS Subcellular localization image for TMEM129 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TMEM129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with TMEM129: view

Pathways & Interactions for TMEM129 Gene

SuperPathways for TMEM129 Gene

No Data Available

UniProtKB/Swiss-Prot A0AVI4-TM129_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for TMEM129 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000372394%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000372394 for TMEM129 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for TMEM129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 24807418
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM129: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM129 Gene

Drugs & Compounds for TMEM129 Gene

No Compound Related Data Available

Transcripts for TMEM129 Gene

Unigene Clusters for TMEM129 Gene

Transmembrane protein 129:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM129 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d
SP1: - - - -
SP2:
SP3: - - - - -
SP4: -
SP5:

Relevant External Links for TMEM129 Gene

GeneLoc Exon Structure for
TMEM129
ECgene alternative splicing isoforms for
TMEM129

Expression for TMEM129 Gene

mRNA expression in normal human tissues for TMEM129 Gene

Protein differential expression in normal tissues from HIPED for TMEM129 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for TMEM129 Gene



SOURCE GeneReport for Unigene cluster for TMEM129 Gene Hs.518562

genes like me logo Genes that share expression patterns with TMEM129: view

Protein tissue co-expression partners for TMEM129 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM129 Gene

Orthologs for TMEM129 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM129 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM129 35
  • 89.32 (n)
  • 90.33 (a)
TMEM129 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM129 35
  • 88.12 (n)
  • 91.16 (a)
TMEM129 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem129 35
  • 84.35 (n)
  • 89.23 (a)
Tmem129 16
Tmem129 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM129 35
  • 99.88 (n)
  • 100 (a)
TMEM129 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem129 35
  • 84.9 (n)
  • 89.78 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM129 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM129 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM129 35
  • 73.2 (n)
  • 75.41 (a)
TMEM129 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem129 35
  • 72.65 (n)
  • 74.86 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem129 35
  • 65.1 (n)
  • 64.82 (a)
wufc17d07 35
tmem129 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011818 35
  • 37.43 (n)
  • 19.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14646 35
  • 49.2 (n)
  • 34.08 (a)
CG14646 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C34F6.7 35
  • 39.49 (n)
  • 27.69 (a)
C34F6.7 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6846 36
  • 42 (a)
OneToOne
Species with no ortholog for TMEM129:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM129 Gene

ENSEMBL:
Gene Tree for TMEM129 (if available)
TreeFam:
Gene Tree for TMEM129 (if available)

Paralogs for TMEM129 Gene

No data available for Paralogs for TMEM129 Gene

Variants for TMEM129 Gene

Sequence variations from dbSNP and Humsavar for TMEM129 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs798752 - 1,718,585(-) AGCGG(A/C)TCCAC reference, missense
rs798751 -- 1,717,845(+) ACGGG(A/G)CGGAC intron-variant
rs798753 -- 1,718,741(-) AGCCC(A/G)ATTAC intron-variant
rs798754 -- 1,719,030(+) GCTGA(A/G)AAGTT intron-variant, utr-variant-5-prime
rs798755 -- 1,719,097(+) GAGCC(A/G)GCTTC intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM129 Gene

Variant ID Type Subtype PubMed ID
nsv878328 CNV Loss 21882294
nsv878347 CNV Loss 21882294
dgv5408n71 CNV Loss 21882294
nsv822437 CNV Loss 20364138
nsv470000 CNV Loss 18288195
dgv5414n71 CNV Loss 21882294
dgv1565e1 CNV Complex 17122850
nsv428434 CNV Gain 18775914
nsv508989 CNV Insertion 20534489
nsv878392 CNV Loss 21882294
nsv878393 CNV Loss 21882294
dgv5415n71 CNV Loss 21882294
dgv5416n71 CNV Loss 21882294
nsv292653 CNV Loss 16902084
esv2726832 CNV Deletion 23290073

Variation tolerance for TMEM129 Gene

Gene Damage Index Score: 4.59; 65.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM129 Gene

HapMap Linkage Disequilibrium report
TMEM129

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM129 Gene

Disorders for TMEM129 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM129 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
urinary bladder cancer
  • bladder cancer
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM129

Genetic Association Database (GAD)
TMEM129
Human Genome Epidemiology (HuGE) Navigator
TMEM129
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM129
genes like me logo Genes that share disorders with TMEM129: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM129 Gene

Publications for TMEM129 Gene

  1. A high-coverage shRNA screen identifies TMEM129 as an E3 ligase involved in ER-associated protein degradation. (PMID: 24807418) van de Weijer M.L. … Lebbink R.J. (Nat. Commun. 2014) 2 3 4 67
  2. TMEM129 is a Derlin-1 associated ERAD E3 ligase essential for virus-induced degradation of MHC-I. (PMID: 25030448) van den Boomen D.J. … Lehner P.J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 2 3
  3. Genome-wide association study identifies multiple loci associated with bladder cancer risk. (PMID: 24163127) Figueroa J.D. … Rothman N. (Hum. Mol. Genet. 2014) 3
  4. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. (PMID: 20348956) Kiemeney L.A. … Stefansson K. (Nat. Genet. 2010) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for TMEM129 Gene

Sources for TMEM129 Gene

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