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Q96EY9

- ADAT3_HUMAN

UniProt

Q96EY9 - ADAT3_HUMAN

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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

Functioni

Cofactori

Zn2+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
Complete GO annotation...

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: Unplaced

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.
ExpressionAtlasiQ96EY9. baseline.
GenevestigatoriQ96EY9.

Organism-specific databases

HPAiHPA058899.

Interactioni

Protein-protein interaction databases

BioGridi125231. 4 interactions.
IntActiQ96EY9. 1 interaction.
STRINGi9606.ENSP00000332448.

Structurei

3D structure databases

ProteinModelPortaliQ96EY9.
SMRiQ96EY9. Positions 177-347.
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

        10         20         30         40         50
MEPAPGLVEQ PKCLEAGSPE PEPAPWQALP VLSEKQSGDV ELVLAYAAPV
60 70 80 90 100
LDKRQTSRLL KEVSALHPLP AQPHLKRVRP SRDAGSPHAL EMLLCLAGPA
110 120 130 140 150
SGPRSLAELL PRPAVDPRGL GQPFLVPVPA RPPLTRGQFE EARAHWPTSF
160 170 180 190 200
HEDKQVTSAL AGRLFSTQER AAMQSHMERA VWAARRAAAR GLRAVGAVVV
210 220 230 240 250
DPASDRVLAT GHDCSCADNP LLHAVMVCVD LVARGQGRGT YDFRPFPACS
260 270 280 290 300
FAPAAAPQAV RAGAVRKLDA DEDGLPYLCT GYDLYVTREP CAMCAMALVH
310 320 330 340 350
ARILRVFYGA PSPDGALGTR FRIHARPDLN HRFQVFRGVL EEQCRWLDPD

T
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 177-347.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125231. 4 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.
ExpressionAtlasi Q96EY9. baseline.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 96 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