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A0AVI4

- TM129_HUMAN

UniProt

A0AVI4 - TM129_HUMAN

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
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    • History
      Entry version 67 (01 Oct 2014)
      Sequence version 1 (28 Nov 2006)
      Previous versions | rss
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    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

    Pathwayi

    Regions

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

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    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 TM129PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66LumenalSequence Analysis
    Topological domaini28 – 5629CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini78 – 9417LumenalSequence AnalysisAdd
    BLAST
    Topological domaini116 – 362247CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei57 – 7721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei95 – 11521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domaini

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

    Sequence similaritiesi

    Belongs to the TMEM129 family.Curated
    Contains 1 RING-type zinc finger.Curated

    Zinc finger

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

    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. 1 PublicationVSP_036641
    Alternative sequencei233 – 362130Missing in isoform 2. 1 PublicationVSP_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

    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: October 1, 2014
    This is version 67 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