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. 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 , CIViC 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers 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:
Protein Products
-
OriGene Purified Proteins for TMEM129
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- Search GeneTex for Proteins for TMEM129
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.
- Domain:
-
- The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity.
- Family:
-
- Belongs to the TMEM129 family.
No data available for Gene Families for TMEM129 Gene
Function for TMEM129 Gene
Molecular function for TMEM129 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
- 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:0003674 | molecular_function | ND | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0061630 | ubiquitin protein ligase activity | EXP | 24807418 |
| GO:1904264 | ubiquitin protein ligase activity involved in ERAD pathway | IDA | 24807418 |
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
-
ViGene Biosciences ready-to-package AAV shRNAs for TMEM129 gene
- Search ViGene Biosciences for TMEM129
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
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for TMEM129
- Browse OriGene Inhibitory RNA Products For TMEM129
-
ViGene Biosciences ready-to-package AAV shRNAs for TMEM129 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TMEM129
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TMEM129
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for TMEM129
-
ViGene Biosciences adenoviral particle packaged cDNA for TMEM129 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TMEM129 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TMEM129 gene
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 |
| 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,TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for TMEM129 Gene
No Data Available
UniProtKB/Swiss-Prot A0AVI4-TM129_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins 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,TAS | -- |
| GO:0030433 | ER-associated ubiquitin-dependent protein catabolic process | IMP | 24807418 |
No data available for Pathways by source and SIGNOR curated interactions for TMEM129 Gene
Transcripts for TMEM129 Gene
mRNA/cDNA for TMEM129 Gene
- (6) 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
- GenScript: Design CRISPR guide RNA sequences for TMEM129
miRNA Products
- Search ViGene Biosciences for TMEM129
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for TMEM129
- Browse OriGene Inhibitory RNA Products For TMEM129
-
ViGene Biosciences ready-to-package AAV shRNAs for TMEM129 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TMEM129
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TMEM129
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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, PaxDb, MaxQB, and MOPED for TMEM129 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TMEM129 Gene:
TMEM129SOURCE GeneReport for Unigene cluster for TMEM129 Gene:
Hs.518562Evidence on tissue expression from TISSUES for TMEM129 Gene
- Nervous system(3.9)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM129 Gene
Orthologs for TMEM129 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TMEM129 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | TMEM129 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | TMEM129 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tmem129 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Tmem129 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM129 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TMEM129 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TMEM129 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tmem129 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tmem129 34 35 |
|
||
| wufc17d07 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG14646 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011818 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C34F6.7 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6846 35 |
|
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)
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 |
|---|---|---|---|---|---|
| rs1000045448 | -- | 1,715,655(+) | GCAGC(C/T)GCAGT | downstream-variant-500B | |
| rs1000204800 | -- | 1,718,582(+) | GGCGT(A/G)GAGCC | reference, missense | |
| rs1000616773 | -- | 1,721,296(+) | GGCGA(C/G)TGCGA | upstream-variant-2KB, utr-variant-5-prime | |
| rs1000747859 | -- | 1,717,051(+) | CCAGG(A/G)CAGAG | utr-variant-3-prime | |
| rs1000790565 | -- | 1,722,759(+) | GTGAC(C/T)GGCGT | intron-variant, upstream-variant-2KB |
| 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 |
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
No disorders were found for TMEM129 Gene.
No data available for MalaCards , 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 64
- 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
- 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
- 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
- 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
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- OriGene qPCR primer pairs for TMEM129
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- GenScript: Design CRISPR guide RNA sequences for TMEM129
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- Abcam antibodies for TMEM129
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Search GeneTex for Antibodies for TMEM129
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- ViGene Biosciences adenoviral particle packaged cDNA for TMEM129 gene
- ViGene Biosciences lentiviral particle packaged cDNA for TMEM129 gene
- ViGene Biosciences ready-to-package AAV shRNAs for TMEM129 gene
- Search ViGene Biosciences for TMEM129
- Horizon Cell Lines for TMEM129
- Cyagen custom Knockout/knockin (KOKI) mouse models for TMEM129
- VectorBuilder custom plasmid, inducible vectors for TMEM129
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TMEM129
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
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- (122) diseasecard
- (123) NIH Rare Diseases
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer