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TMEM129 - transmembrane protein 129, E3 ubiquitin ligase Gene

Also Known as D4S2561E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92305

About TMEM129

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,715,952-1,721,323 (from NCBI)

This gene has 6 transcripts (splice variants) and 188 orthologues. Ubiquitous expression in kidney (RPKM 11.0), thyroid (RPKM 10.1) and 25 other tissues.

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]

TMEM129 Products (2)

mRNA	Protein	Name
NM_001127266.2	NP_001120738.1	E3 ubiquitin-protein ligase TM129 isoform a
NM_138385.4	NP_612394.1	E3 ubiquitin-protein ligase TM129 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables ubiquitin protein ligase activity	EXP EXP: Inferred from Experiment	24807418	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	24807418	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	24807418	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	24807418	GOA
involved in retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	24807418	GOA
involved in ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	24807418	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	24807418	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM129 Protein Structure

Tmpp129

0
100
200
300
362 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase TM129	RING-type E3 ubiquitin transferase TM129

Related Diseases

Diseases	Alias
Blepharochalasis	Dermatolysis Palpebrarum Adiposa Ptosis
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14661	TMEM129 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TMEM129	VGNC	VGNC:47463
Rattus norvegicus	TMEM129	RGD	RGD:1310828
Mus musculus	TMEM129	MGD	MGI:1915616
Felis catus	TMEM129	VGNC	VGNC:66266
Bos taurus	TMEM129	VGNC	VGNC:35962
Macaca mulatta	TMEM129	VGNC	VGNC:107204
Others	TMEM129	NCBI