TMEM129 - transmembrane protein 129, E3 ubiquitin ligase Gene

Homo sapiens

Also known as D4S2561E

Gene ID: 92305 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

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

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