Aliases for TMEM129 Gene
Aliases for TMEM129 Gene
External Ids for TMEM129 Gene
- HGNC: 25137
- Entrez Gene: 92305
- Ensembl: ENSG00000168936
- OMIM: 615975
- UniProtKB: A0AVI4
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
Enhancers for TMEM129 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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 |
|---|
ENSRs around TMEM129 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the TMEM129 gene promoter:
Regulatory Element Products
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:
-
- 4p16.3 by Ensembl
- 4p16.3 by Entrez Gene
- 4p16.3 by HGNC
TMEM129 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for TMEM129 Gene
Post-translational modifications for TMEM129 Gene
Other Protein References for TMEM129 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for TMEM129
- Abcam antibodies for TMEM129
- Search GeneTex for Antibodies for TMEM129
-
Santa Cruz Biotechnology (SCBT) Antibodies for TMEM129
Protein Products
-
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- Search GeneTex for Proteins for TMEM129
Assay Products
No data available for DME Specific Peptides for TMEM129 Gene
Domains & Families for TMEM129 Gene
Suggested Antigen Peptide Sequences for TMEM129 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
A0AVI4UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016874 | ligase activity | IEA | -- |
Phenotypes for TMEM129 Gene
- GenomeRNAi human phenotypes for TMEM129:
Animal Model Products
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-
ViGene Biosciences lentiviral particle packaged cDNA for TMEM129 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for TMEM129
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM129
- GenScript: Design CRISPR guide RNA sequences for TMEM129
miRNA for TMEM129 Gene
- miRTarBase miRNAs that target TMEM129
miRNA Products
- Search ViGene Biosciences for TMEM129
Clone Products
- OriGene clones in human for TMEM129
- OriGene ORF clones in human,mouse,rat for TMEM129
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for TMEM129 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TMEM129 gene
-
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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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| extracellular | 2 |
| lysosome | 1 |
| vacuole | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005575 | cellular_component | ND | -- |
Pathways & Interactions for TMEM129 Gene
More details on SuperPathways for TMEM129
No Data Available
UniProtKB/Swiss-Prot A0AVI4-TM129_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for TMEM129 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| UBC |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | IDA | 24807418 |
| GO:0008150 | biological_process | ND | -- |
No data available for Pathways by source and SIGNOR curated interactions for TMEM129 Gene
Transcripts for TMEM129 Gene
mRNA/cDNA for TMEM129 Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (206) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TMEM129 Gene
- Transmembrane protein 129:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TMEM129
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM129
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miRNA Products
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Clone Products
- OriGene clones in human for TMEM129
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||
| SP5: |
Expression 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
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for TMEM129
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | TMEM129 35 |
|
||
| TMEM129 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | TMEM129 35 |
|
||
| TMEM129 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Tmem129 35 |
|
||
| Tmem129 16 |
|
||||
| Tmem129 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | TMEM129 35 |
|
||
| TMEM129 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Tmem129 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TMEM129 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM129 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TMEM129 35 |
|
||
| TMEM129 36 |
|
OneToOne | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tmem129 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tmem129 35 |
|
||
| wufc17d07 35 |
|
||||
| tmem129 36 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011818 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG14646 35 |
|
||
| CG14646 36 |
|
OneToOne | |||
| worm (Caenorhabditis elegans) |
Secernentea | C34F6.7 35 |
|
||
| C34F6.7 36 |
|
OneToOne | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6846 36 |
|
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)
Paralogs for TMEM129 Gene
No data available for Paralogs for TMEM129 Gene
Variants 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 |
| 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 |
Gene Damage Index Score:
4.59;
65.26% of all genes are more intolerant (likely to be disease-causing)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TMEM129 Gene
Disorders for TMEM129 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| urinary bladder cancer |
|
|
Search TMEM129 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for TMEM129
No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM129 Gene
Publications for TMEM129 Gene
- 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
- 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
- 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
- Genome-wide association study identifies multiple loci associated with bladder cancer risk. (PMID: 24163127) Figueroa J.D. … Rothman N. (Hum. Mol. Genet. 2014) 3
- A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. (PMID: 20348956) Kiemeney L.A. … Stefansson K. (Nat. Genet. 2010) 3
Products for TMEM129 Gene
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- OriGene qPCR primer pairs for TMEM129
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- ViGene Biosciences adenoviral particle packaged cDNA for TMEM129 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for TMEM129
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- Santa Cruz Biotechnology (SCBT) CRISPR for TMEM129
Sources for TMEM129 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
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- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
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- (111) Addgene
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- (113) antibodies-online
- (114) CYP
- (115) NONCODE
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- (117) TreeFam
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