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Q96EY9

- ADAT3_HUMAN

UniProt

Q96EY9 - ADAT3_HUMAN

Protein

Probable inactive tRNA-specific adenosine deaminase-like protein 3

Gene

ADAT3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Cofactori

    Zinc.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi223 – 2231ZincBy similarity
    Metal bindingi291 – 2911ZincBy similarity
    Metal bindingi294 – 2941ZincBy similarity

    GO - Molecular functioni

    1. hydrolase activity Source: InterPro
    2. zinc ion binding Source: InterPro

    GO - Biological processi

    1. tRNA processing Source: UniProtKB-KW

    Keywords - Biological processi

    tRNA processing

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable inactive tRNA-specific adenosine deaminase-like protein 3
    Alternative name(s):
    tRNA-specific adenosine-34 deaminase subunit ADAT3
    Gene namesi
    Name:ADAT3
    Synonyms:TAD3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:25151. ADAT3.

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT36 is often associated with esotropia and failure to thrive. Other more variable features included microcephaly, hypotonia, and mild brain abnormalities on MRI, such as dilated ventricles or delayed myelination.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti128 – 1281V → M in MRT36. 1 Publication
    VAR_069778

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi615286. phenotype.
    Orphaneti363528. Intellectual disability-strabismus syndrome.
    PharmGKBiPA162375609.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 351351Probable inactive tRNA-specific adenosine deaminase-like protein 3PRO_0000287658Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ96EY9.
    PaxDbiQ96EY9.
    PRIDEiQ96EY9.

    PTM databases

    PhosphoSiteiQ96EY9.

    Expressioni

    Gene expression databases

    BgeeiQ96EY9.
    GenevestigatoriQ96EY9.

    Organism-specific databases

    HPAiHPA058899.

    Interactioni

    Protein-protein interaction databases

    BioGridi125231. 3 interactions.
    IntActiQ96EY9. 1 interaction.
    STRINGi9606.ENSP00000332448.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96EY9.
    SMRiQ96EY9. Positions 175-347.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0590.
    HOVERGENiHBG098143.
    InParanoidiQ96EY9.
    KOiK15442.
    OrthoDBiEOG76X603.
    PhylomeDBiQ96EY9.
    TreeFamiTF313277.

    Family and domain databases

    InterProiIPR002125. CMP_dCMP_Zn-bd.
    IPR016193. Cytidine_deaminase-like.
    [Graphical view]
    PfamiPF00383. dCMP_cyt_deam_1. 1 hit.
    [Graphical view]
    SUPFAMiSSF53927. SSF53927. 2 hits.

    Sequencei

    Sequence statusi: Complete.

    Q96EY9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEPAPGLVEQ PKCLEAGSPE PEPAPWQALP VLSEKQSGDV ELVLAYAAPV    50
    LDKRQTSRLL KEVSALHPLP AQPHLKRVRP SRDAGSPHAL EMLLCLAGPA 100
    SGPRSLAELL PRPAVDPRGL GQPFLVPVPA RPPLTRGQFE EARAHWPTSF 150
    HEDKQVTSAL AGRLFSTQER AAMQSHMERA VWAARRAAAR GLRAVGAVVV 200
    DPASDRVLAT GHDCSCADNP LLHAVMVCVD LVARGQGRGT YDFRPFPACS 250
    FAPAAAPQAV RAGAVRKLDA DEDGLPYLCT GYDLYVTREP CAMCAMALVH 300
    ARILRVFYGA PSPDGALGTR FRIHARPDLN HRFQVFRGVL EEQCRWLDPD 350
    T 351
    Length:351
    Mass (Da):38,071
    Last modified:December 1, 2001 - v1
    Checksum:i6CE25F534BBE92F9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti128 – 1281V → M in MRT36. 1 Publication
    VAR_069778
    Natural varianti332 – 3321R → C in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035804

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC011824 mRNA. Translation: AAH11824.1.
    RefSeqiNP_612431.2. NM_138422.2.
    UniGeneiHs.144980.

    Genome annotation databases

    EnsembliENST00000602400; ENSP00000473571; ENSG00000213638.
    GeneIDi113179.
    KEGGihsa:113179.

    Polymorphism databases

    DMDMi74731634.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC011824 mRNA. Translation: AAH11824.1 .
    RefSeqi NP_612431.2. NM_138422.2.
    UniGenei Hs.144980.

    3D structure databases

    ProteinModelPortali Q96EY9.
    SMRi Q96EY9. Positions 175-347.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125231. 3 interactions.
    IntActi Q96EY9. 1 interaction.
    STRINGi 9606.ENSP00000332448.

    PTM databases

    PhosphoSitei Q96EY9.

    Polymorphism databases

    DMDMi 74731634.

    Proteomic databases

    MaxQBi Q96EY9.
    PaxDbi Q96EY9.
    PRIDEi Q96EY9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000602400 ; ENSP00000473571 ; ENSG00000213638 .
    GeneIDi 113179.
    KEGGi hsa:113179.

    Organism-specific databases

    CTDi 113179.
    GeneCardsi GC19P001906.
    HGNCi HGNC:25151. ADAT3.
    HPAi HPA058899.
    MIMi 615286. phenotype.
    615302. gene.
    neXtProti NX_Q96EY9.
    Orphaneti 363528. Intellectual disability-strabismus syndrome.
    PharmGKBi PA162375609.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0590.
    HOVERGENi HBG098143.
    InParanoidi Q96EY9.
    KOi K15442.
    OrthoDBi EOG76X603.
    PhylomeDBi Q96EY9.
    TreeFami TF313277.

    Miscellaneous databases

    GenomeRNAii 113179.
    NextBioi 78777.
    PROi Q96EY9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96EY9.
    Genevestigatori Q96EY9.

    Family and domain databases

    InterProi IPR002125. CMP_dCMP_Zn-bd.
    IPR016193. Cytidine_deaminase-like.
    [Graphical view ]
    Pfami PF00383. dCMP_cyt_deam_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53927. SSF53927. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Skin.
    2. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    4. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-332.
    5. "Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus."
      Alazami A.M., Hijazi H., Al-Dosari M.S., Shaheen R., Hashem A., Aldahmesh M.A., Mohamed J.Y., Kentab A., Salih M.A., Awaji A., Masoodi T.A., Alkuraya F.S.
      J. Med. Genet. 50:425-430(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MRT36 MET-128.

    Entry informationi

    Entry nameiADAT3_HUMAN
    AccessioniPrimary (citable) accession number: Q96EY9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 94 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

    Caution

    Val-225 is present instead of the conserved Glu which is an active site in the cytidine and deoxycytidylate deaminase family of enzymes. It is suggested that this protein may act as a regulatory subunit.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3