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A0AVI4

- TM129_HUMAN

UniProt

A0AVI4 - TM129_HUMAN

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Protein
E3 ubiquitin-protein ligase TM129
Gene
TMEM129
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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.

Pathwayi

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri285 – 35066RING-type; degenerate
Add
BLAST

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Ubl conjugation pathway, Unfolded protein response

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
E3 ubiquitin-protein ligase TM129 (EC:6.3.2.-)
Gene namesi
Name:TMEM129
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:25137. TMEM129.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66Lumenal Reviewed prediction
Transmembranei7 – 2721Helical; Reviewed prediction
Add
BLAST
Topological domaini28 – 5629Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei57 – 7721Helical; Reviewed prediction
Add
BLAST
Topological domaini78 – 9417Lumenal Reviewed prediction
Add
BLAST
Transmembranei95 – 11521Helical; Reviewed prediction
Add
BLAST
Topological domaini116 – 362247Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485649.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 362362E3 ubiquitin-protein ligase TM129
PRO_0000291041Add
BLAST

Proteomic databases

MaxQBiA0AVI4.
PaxDbiA0AVI4.
PRIDEiA0AVI4.

PTM databases

PhosphoSiteiA0AVI4.

Expressioni

Gene expression databases

BgeeiA0AVI4.
CleanExiHS_TMEM129.
GenevestigatoriA0AVI4.

Organism-specific databases

HPAiHPA053826.

Interactioni

Subunit structurei

Integral component of ER-resident dislocation complexes.

Protein-protein interaction databases

BioGridi124932. 1 interaction.
STRINGi9606.ENSP00000372394.

Structurei

3D structure databases

ProteinModelPortaliA0AVI4.

Family & Domainsi

Domaini

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

Sequence similaritiesi

Belongs to the TMEM129 family.

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiNOG302378.
HOGENOMiHOG000006582.
HOVERGENiHBG097695.
InParanoidiA0AVI4.
OMAiVVIHQSL.
OrthoDBiEOG7JMGF6.
PhylomeDBiA0AVI4.
TreeFamiTF314487.

Family and domain databases

InterProiIPR018801. Tmpp129.
[Graphical view]
PfamiPF10272. Tmpp129. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MDSPEVTFTL AYLVFAVCFV FTPNEFHAAG LTVQNLLSGW LGSEDAAFVP    50
FHLRRTAATL LCHSLLPLGY YVGMCLAASE KRLHALSQAP EAWRLFLLLA 100
VTLPSIACIL IYYWSRDRWA CHPLARTLAL YALPQSGWQA VASSVNTEFR 150
RIDKFATGAP GARVIVTDTW VMKVTTYRVH VAQQQDVHLT VTESRQHELS 200
PDSNLPVQLL TIRVASTNPA VQAFDIWLNS TEYGELCEKL RAPIRRAAHV 250
VIHQSLGDLF LETFASLVEV NPAYSVPSSQ ELEACIGCMQ TRASVKLVKT 300
CQEAATGECQ QCYCRPMWCL TCMGKWFASR QDPLRPDTWL ASRVPCPTCR 350
ARFCILDVCT VR 362
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti83 – 831L → I.
Corresponds to variant rs798752 [ dbSNP | Ensembl ].
VAR_032803

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei228 – 2325LNSTE → SWRPA in isoform 2.
VSP_036641
Alternative sequencei233 – 362130Missing in isoform 2.
VSP_036642Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [A0AVI4-2]
uc003gdn.3. human. [A0AVI4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3351.1. [A0AVI4-2 ]
CCDS46998.1. [A0AVI4-1 ]
RefSeqi NP_001120738.1. NM_001127266.1. [A0AVI4-1 ]
NP_612394.1. NM_138385.3. [A0AVI4-2 ]
UniGenei Hs.518562.

3D structure databases

ProteinModelPortali A0AVI4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124932. 1 interaction.
STRINGi 9606.ENSP00000372394.

PTM databases

PhosphoSitei A0AVI4.

Proteomic databases

MaxQBi A0AVI4.
PaxDbi A0AVI4.
PRIDEi A0AVI4.

Protocols and materials databases

DNASUi 92305.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303277 ; ENSP00000305243 ; ENSG00000168936 . [A0AVI4-2 ]
ENST00000382936 ; ENSP00000372394 ; ENSG00000168936 . [A0AVI4-1 ]
ENST00000536901 ; ENSP00000441812 ; ENSG00000168936 . [A0AVI4-1 ]
GeneIDi 92305.
KEGGi hsa:92305.
UCSCi uc003gdm.3. human. [A0AVI4-2 ]
uc003gdn.3. human. [A0AVI4-1 ]

Organism-specific databases

CTDi 92305.
GeneCardsi GC04M001717.
HGNCi HGNC:25137. TMEM129.
HPAi HPA053826.
neXtProti NX_A0AVI4.
PharmGKBi PA143485649.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG302378.
HOGENOMi HOG000006582.
HOVERGENi HBG097695.
InParanoidi A0AVI4.
OMAi VVIHQSL.
OrthoDBi EOG7JMGF6.
PhylomeDBi A0AVI4.
TreeFami TF314487.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

GenomeRNAii 92305.
NextBioi 77688.
PROi A0AVI4.

Gene expression databases

Bgeei A0AVI4.
CleanExi HS_TMEM129.
Genevestigatori A0AVI4.

Family and domain databases

InterProi IPR018801. Tmpp129.
[Graphical view ]
Pfami PF10272. Tmpp129. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
  4. Cited for: FUNCTION, CATALYTIC ACTIVITY, TOPOLOGY, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiTM129_HUMAN
AccessioniPrimary (citable) accession number: A0AVI4
Secondary accession number(s): A6NH49, A6NI98, D3DVP8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 12, 2007
Last sequence update: November 28, 2006
Last modified: September 3, 2014
This is version 66 of the entry and version 1 of the sequence. [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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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