Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96EY9 (ADAT3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable inactive tRNA-specific adenosine deaminase-like protein 3
Alternative name(s):
tRNA-specific adenosine-34 deaminase subunit ADAT3
Gene names
Name:ADAT3
Synonyms:TAD3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length351 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Cofactor

Zinc By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the cytidine and deoxycytidylate deaminase family. ADAT3 subfamily.

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.

Ontologies

Keywords
   Biological processtRNA processing
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Mental retardation
   LigandMetal-binding
Zinc
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionhydrolase activity

Inferred from electronic annotation. Source: InterPro

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 351351Probable inactive tRNA-specific adenosine deaminase-like protein 3
PRO_0000287658

Sites

Metal binding2231Zinc By similarity
Metal binding2911Zinc By similarity
Metal binding2941Zinc By similarity

Amino acid modifications

Modified residue11N-acetylmethionine Ref.2

Natural variations

Natural variant1281V → M in MRT36. Ref.5
VAR_069778
Natural variant3321R → C in a breast cancer sample; somatic mutation. Ref.4
VAR_035804

Sequences

Sequence LengthMass (Da)Tools
Q96EY9 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 6CE25F534BBE92F9

FASTA35138,071
        10         20         30         40         50         60 
MEPAPGLVEQ PKCLEAGSPE PEPAPWQALP VLSEKQSGDV ELVLAYAAPV LDKRQTSRLL 

        70         80         90        100        110        120 
KEVSALHPLP AQPHLKRVRP SRDAGSPHAL EMLLCLAGPA SGPRSLAELL PRPAVDPRGL 

       130        140        150        160        170        180 
GQPFLVPVPA RPPLTRGQFE EARAHWPTSF HEDKQVTSAL AGRLFSTQER AAMQSHMERA 

       190        200        210        220        230        240 
VWAARRAAAR GLRAVGAVVV DPASDRVLAT GHDCSCADNP LLHAVMVCVD LVARGQGRGT 

       250        260        270        280        290        300 
YDFRPFPACS FAPAAAPQAV RAGAVRKLDA DEDGLPYLCT GYDLYVTREP CAMCAMALVH 

       310        320        330        340        350 
ARILRVFYGA PSPDGALGTR FRIHARPDLN HRFQVFRGVL EEQCRWLDPD T 

« Hide

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[4]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC011824 mRNA. Translation: AAH11824.1.
RefSeqNP_612431.2. NM_138422.2.
UniGeneHs.144980.

3D structure databases

ProteinModelPortalQ96EY9.
SMRQ96EY9. Positions 175-347.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125231. 3 interactions.
IntActQ96EY9. 1 interaction.
STRING9606.ENSP00000332448.

PTM databases

PhosphoSiteQ96EY9.

Polymorphism databases

DMDM74731634.

Proteomic databases

MaxQBQ96EY9.
PaxDbQ96EY9.
PRIDEQ96EY9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000602400; ENSP00000473571; ENSG00000213638.
GeneID113179.
KEGGhsa:113179.

Organism-specific databases

CTD113179.
GeneCardsGC19P001906.
HGNCHGNC:25151. ADAT3.
HPAHPA058899.
MIM615286. phenotype.
615302. gene.
neXtProtNX_Q96EY9.
Orphanet363528. Intellectual disability-strabismus syndrome.
PharmGKBPA162375609.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0590.
HOVERGENHBG098143.
InParanoidQ96EY9.
KOK15442.
OrthoDBEOG76X603.
PhylomeDBQ96EY9.
TreeFamTF313277.

Gene expression databases

BgeeQ96EY9.
GenevestigatorQ96EY9.

Family and domain databases

InterProIPR002125. CMP_dCMP_Zn-bd.
IPR016193. Cytidine_deaminase-like.
[Graphical view]
PfamPF00383. dCMP_cyt_deam_1. 1 hit.
[Graphical view]
SUPFAMSSF53927. SSF53927. 2 hits.
ProtoNetSearch...

Other

GenomeRNAi113179.
NextBio78777.
PROQ96EY9.
SOURCESearch...

Entry information

Entry nameADAT3_HUMAN
AccessionPrimary (citable) accession number: Q96EY9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: December 1, 2001
Last modified: June 11, 2014
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM