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Protein

E3 ubiquitin-protein ligase TM129

Gene

TMEM129

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

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.

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri285 – 350RING-type; degenerateAdd BLAST66

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • ubiquitin protein ligase activity involved in ERAD pathway Source: ParkinsonsUK-UCL

GO - Biological processi

  • protein polyubiquitination Source: ParkinsonsUK-UCL
  • response to unfolded protein Source: UniProtKB-KW
  • retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • ubiquitin-dependent ERAD pathway Source: ParkinsonsUK-UCL

Keywordsi

Molecular functionTransferase
Biological processUbl conjugation pathway, Unfolded protein response
LigandMetal-binding, Zinc

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
E3 ubiquitin-protein ligase TM129 (EC:2.3.2.27)
Alternative name(s):
RING-type E3 ubiquitin transferase TM129Curated
Gene namesi
Name:TMEM129
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25137. TMEM129.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6LumenalSequence analysis6
Transmembranei7 – 27HelicalSequence analysisAdd BLAST21
Topological domaini28 – 56CytoplasmicSequence analysisAdd BLAST29
Transmembranei57 – 77HelicalSequence analysisAdd BLAST21
Topological domaini78 – 94LumenalSequence analysisAdd BLAST17
Transmembranei95 – 115HelicalSequence analysisAdd BLAST21
Topological domaini116 – 362CytoplasmicSequence analysisAdd BLAST247

GO - Cellular componenti

  • endoplasmic reticulum Source: ParkinsonsUK-UCL
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi92305.
OpenTargetsiENSG00000168936.
PharmGKBiPA143485649.

Polymorphism and mutation databases

BioMutaiTMEM129.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002910411 – 362E3 ubiquitin-protein ligase TM129Add BLAST362

Proteomic databases

EPDiA0AVI4.
MaxQBiA0AVI4.
PaxDbiA0AVI4.
PRIDEiA0AVI4.

PTM databases

iPTMnetiA0AVI4.
PhosphoSitePlusiA0AVI4.

Expressioni

Gene expression databases

BgeeiENSG00000168936.
CleanExiHS_TMEM129.
ExpressionAtlasiA0AVI4. baseline and differential.
GenevisibleiA0AVI4. HS.

Organism-specific databases

HPAiHPA060920.

Interactioni

Subunit structurei

Integral component of ER-resident dislocation complexes.

Protein-protein interaction databases

BioGridi124932. 12 interactors.
IntActiA0AVI4. 3 interactors.
STRINGi9606.ENSP00000372394.

Structurei

3D structure databases

ProteinModelPortaliA0AVI4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity.

Sequence similaritiesi

Belongs to the TMEM129 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri285 – 350RING-type; degenerateAdd BLAST66

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiKOG3899. Eukaryota.
ENOG410XT2B. LUCA.
GeneTreeiENSGT00390000013284.
HOGENOMiHOG000006582.
HOVERGENiHBG097695.
InParanoidiA0AVI4.
OMAiCTLIYYW.
OrthoDBiEOG091G0AYM.
PhylomeDBiA0AVI4.
TreeFamiTF314487.

Family and domain databases

InterProiView protein in InterPro
IPR018801. Tmpp129.
PfamiView protein in Pfam
PF10272. Tmpp129. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A0AVI4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDSPEVTFTL AYLVFAVCFV FTPNEFHAAG LTVQNLLSGW LGSEDAAFVP
60 70 80 90 100
FHLRRTAATL LCHSLLPLGY YVGMCLAASE KRLHALSQAP EAWRLFLLLA
110 120 130 140 150
VTLPSIACIL IYYWSRDRWA CHPLARTLAL YALPQSGWQA VASSVNTEFR
160 170 180 190 200
RIDKFATGAP GARVIVTDTW VMKVTTYRVH VAQQQDVHLT VTESRQHELS
210 220 230 240 250
PDSNLPVQLL TIRVASTNPA VQAFDIWLNS TEYGELCEKL RAPIRRAAHV
260 270 280 290 300
VIHQSLGDLF LETFASLVEV NPAYSVPSSQ ELEACIGCMQ TRASVKLVKT
310 320 330 340 350
CQEAATGECQ QCYCRPMWCL TCMGKWFASR QDPLRPDTWL ASRVPCPTCR
360
ARFCILDVCT VR
Length:362
Mass (Da):40,464
Last modified:November 28, 2006 - v1
Checksum:i861C9876B492DC56
GO
Isoform 2 (identifier: A0AVI4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     228-232: LNSTE → SWRPA
     233-362: Missing.

Show »
Length:232
Mass (Da):25,914
Checksum:iBB10F6F61C2DF4B3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03280383L → I. Corresponds to variant dbSNP:rs798752Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_036641228 – 232LNSTE → SWRPA in isoform 2. 1 Publication5
Alternative sequenceiVSP_036642233 – 362Missing in isoform 2. 1 PublicationAdd BLAST130

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC016773 Genomic DNA. No translation available.
CH471131 Genomic DNA. Translation: EAW82569.1.
CH471131 Genomic DNA. Translation: EAW82570.1.
CH471131 Genomic DNA. Translation: EAW82571.1.
BC009331 mRNA. No translation available.
BC126370 mRNA. Translation: AAI26371.1.
CCDSiCCDS3351.1. [A0AVI4-2]
CCDS46998.1. [A0AVI4-1]
RefSeqiNP_001120738.1. NM_001127266.1. [A0AVI4-1]
NP_612394.1. NM_138385.3. [A0AVI4-2]
UniGeneiHs.518562.

Genome annotation databases

EnsembliENST00000303277; ENSP00000305243; ENSG00000168936. [A0AVI4-2]
ENST00000382936; ENSP00000372394; ENSG00000168936. [A0AVI4-1]
ENST00000536901; ENSP00000441812; ENSG00000168936. [A0AVI4-1]
GeneIDi92305.
KEGGihsa:92305.
UCSCiuc003gdm.4. human. [A0AVI4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC016773 Genomic DNA. No translation available.
CH471131 Genomic DNA. Translation: EAW82569.1.
CH471131 Genomic DNA. Translation: EAW82570.1.
CH471131 Genomic DNA. Translation: EAW82571.1.
BC009331 mRNA. No translation available.
BC126370 mRNA. Translation: AAI26371.1.
CCDSiCCDS3351.1. [A0AVI4-2]
CCDS46998.1. [A0AVI4-1]
RefSeqiNP_001120738.1. NM_001127266.1. [A0AVI4-1]
NP_612394.1. NM_138385.3. [A0AVI4-2]
UniGeneiHs.518562.

3D structure databases

ProteinModelPortaliA0AVI4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124932. 12 interactors.
IntActiA0AVI4. 3 interactors.
STRINGi9606.ENSP00000372394.

PTM databases

iPTMnetiA0AVI4.
PhosphoSitePlusiA0AVI4.

Polymorphism and mutation databases

BioMutaiTMEM129.

Proteomic databases

EPDiA0AVI4.
MaxQBiA0AVI4.
PaxDbiA0AVI4.
PRIDEiA0AVI4.

Protocols and materials databases

DNASUi92305.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303277; ENSP00000305243; ENSG00000168936. [A0AVI4-2]
ENST00000382936; ENSP00000372394; ENSG00000168936. [A0AVI4-1]
ENST00000536901; ENSP00000441812; ENSG00000168936. [A0AVI4-1]
GeneIDi92305.
KEGGihsa:92305.
UCSCiuc003gdm.4. human. [A0AVI4-1]

Organism-specific databases

CTDi92305.
DisGeNETi92305.
GeneCardsiTMEM129.
HGNCiHGNC:25137. TMEM129.
HPAiHPA060920.
MIMi615975. gene.
neXtProtiNX_A0AVI4.
OpenTargetsiENSG00000168936.
PharmGKBiPA143485649.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3899. Eukaryota.
ENOG410XT2B. LUCA.
GeneTreeiENSGT00390000013284.
HOGENOMiHOG000006582.
HOVERGENiHBG097695.
InParanoidiA0AVI4.
OMAiCTLIYYW.
OrthoDBiEOG091G0AYM.
PhylomeDBiA0AVI4.
TreeFamiTF314487.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

GenomeRNAii92305.
PROiPR:A0AVI4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168936.
CleanExiHS_TMEM129.
ExpressionAtlasiA0AVI4. baseline and differential.
GenevisibleiA0AVI4. HS.

Family and domain databases

InterProiView protein in InterPro
IPR018801. Tmpp129.
PfamiView protein in Pfam
PF10272. Tmpp129. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTM129_HUMAN
AccessioniPrimary (citable) accession number: A0AVI4
Secondary accession number(s): A6NH49, A6NI98, D3DVP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 12, 2007
Last sequence update: November 28, 2006
Last modified: April 12, 2017
This is version 88 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.