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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
  • E3 Ubiquitin-Protein Ligase TM129 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. 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

Enhancers for TMEM129 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F001694 0.5 ENCODE 39.5 +25.3 25341 2.3 SMARCA4 POLR2A TMEM129 FAM53A TACC3 GC04M001697 GC04P001691
GH04F001757 1.2 FANTOM5 Ensembl ENCODE 35.2 -39.4 -39424 7.1 PKNOX1 MLX ARID4B NFXL1 RAD21 ZNF48 GLIS2 ZNF207 EGR2 ZNF263 TMEM129 FAM53A LOC100129917 MIR943 CTBP1-AS2 IDUA CRIPAK SLBP FGFR3 GC04M001751
GH04F001719 0.6 ENCODE 29.6 -0.9 -914 5.4 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 FAM53A TMEM129 TACC3 SLBP CRIPAK ENSG00000233799 GC04P001740
GH04F001725 0.6 ENCODE 29.6 -5.8 -5783 3.8 HDGF TBL1XR1 ARID4B SIN3A ZNF48 ZNF2 RAD21 GLIS2 ZNF143 ZNF207 FAM53A TMEM129 CTBP1-AS2 SLBP HAUS3 TACC3 GC04P001740
GH04F001718 0.5 ENCODE 27.6 +2.9 2946 1.3 ELF3 HDGF HDAC1 ATF1 CBX3 PKNOX1 ZNF76 SIN3A DMAP1 ZNF48 TMEM129 FAM53A SLBP PIR44595 ENSG00000270195
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM129 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM129 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001234672 -42 2401 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 FOS

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

Post-translational modifications for TMEM129 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0003674 molecular_function ND --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
GO:1904264 ubiquitin protein ligase activity involved in ERAD pathway IDA 24807418
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

miRNA for TMEM129 Gene

miRTarBase miRNAs that target TMEM129

Inhibitory RNA Products

Flow Cytometry Products

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 --
GO:0005783 endoplasmic reticulum IEA,IDA 24807418
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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 A0AVI4-TM129_HUMAN for TMEM129 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TMEM129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 24807418
GO:0006986 response to unfolded protein IEA --
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 24807418
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

Transcripts for TMEM129 Gene

Unigene Clusters for TMEM129 Gene

Transmembrane protein 129:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TMEM129 Gene



Protein tissue co-expression partners for TMEM129 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM129 Gene:

TMEM129

SOURCE GeneReport for Unigene cluster for TMEM129 Gene:

Hs.518562
genes like me logo Genes that share expression patterns with TMEM129: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TMEM129 34 35
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia TMEM129 34 35
  • 89.32 (n)
dog
(Canis familiaris)
Mammalia TMEM129 34 35
  • 88.12 (n)
rat
(Rattus norvegicus)
Mammalia Tmem129 34
  • 84.9 (n)
mouse
(Mus musculus)
Mammalia Tmem129 34 16 35
  • 84.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM129 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM129 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM129 34 35
  • 73.2 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem129 34
  • 72.65 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem129 34 35
  • 65.1 (n)
wufc17d07 34
fruit fly
(Drosophila melanogaster)
Insecta CG14646 34 35
  • 49.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011818 34
  • 37.43 (n)
worm
(Caenorhabditis elegans)
Secernentea C34F6.7 34 35
  • 39.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6846 35
  • 42 (a)
OneToOne
Species where no ortholog for TMEM129 was found in the sources mined by GeneCards:
  • 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
rs10030268 -- 1,721,132(+) TGGGA(A/G)ATGCA upstream-variant-2KB, utr-variant-5-prime
rs1044173 -- 1,716,195(-) AGGCA(A/G)AGGTG utr-variant-3-prime
rs1044202 -- 1,716,064(-) CCAAA(A/G)AGGGG utr-variant-3-prime
rs1044221 -- 1,715,982(-) ATGAC(A/C)CCATA utr-variant-3-prime
rs111254096 -- 1,719,394(+) AAAAT(-/A)CAAAA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv8901n54 CNV loss 21841781
esv2726832 CNV deletion 23290073
esv2759218 CNV gain 17122850
nsv1161027 CNV deletion 26073780
nsv292653 CNV deletion 16902084
nsv428434 CNV gain 18775914
nsv470000 CNV loss 18288195
nsv508989 CNV insertion 20534489
nsv593316 CNV gain 21841781
nsv949756 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM129

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

Disorders for TMEM129 Gene

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

No disorders were found for TMEM129 Gene.

No data available for MalaCards , 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 64
  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 64
  3. 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 46 64
  4. Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I. (PMID: 26210183) van den Boomen D.J. … Lehner P.J. (Mol. Immunol. 2015) 3 64
  5. Genome-wide association study identifies multiple loci associated with bladder cancer risk. (PMID: 24163127) Figueroa J.D. … Rothman N. (Hum. Mol. Genet. 2014) 3 64

Products for TMEM129 Gene

Sources for TMEM129 Gene

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