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Protein

Probable inactive tRNA-specific adenosine deaminase-like protein 3

Gene

ADAT3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Cofactori

Zn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi223ZincBy similarity1
Metal bindingi291ZincBy similarity1
Metal bindingi294ZincBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processtRNA processing
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-6782315 tRNA modification in the nucleus and cytosol

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
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:25151 ADAT3
MIMi615302 gene
neXtProtiNX_Q96EY9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 36 (MRT36)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069778128V → M in MRT36. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi113179
MalaCardsiADAT3
MIMi615286 phenotype
Orphaneti363528 Intellectual disability-strabismus syndrome
PharmGKBiPA162375609

Polymorphism and mutation databases

DMDMi74731634

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002876581 – 351Probable inactive tRNA-specific adenosine deaminase-like protein 3Add BLAST351

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ96EY9
MaxQBiQ96EY9
PaxDbiQ96EY9
PeptideAtlasiQ96EY9
PRIDEiQ96EY9

PTM databases

iPTMnetiQ96EY9
PhosphoSitePlusiQ96EY9

Expressioni

Organism-specific databases

HPAiHPA058899

Interactioni

Protein-protein interaction databases

BioGridi125231, 12 interactors
IntActiQ96EY9, 4 interactors
STRINGi9606.ENSP00000332448

Structurei

3D structure databases

ProteinModelPortaliQ96EY9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini171 – 336CMP/dCMP-type deaminasePROSITE-ProRule annotationAdd BLAST166

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2771 Eukaryota
COG0590 LUCA
HOVERGENiHBG098143
InParanoidiQ96EY9
KOiK15442
PhylomeDBiQ96EY9
TreeFamiTF313277

Family and domain databases

InterProiView protein in InterPro
IPR002125 CMP_dCMP_dom
IPR016193 Cytidine_deaminase-like
PfamiView protein in Pfam
PF00383 dCMP_cyt_deam_1, 1 hit
SUPFAMiSSF53927 SSF53927, 2 hits
PROSITEiView protein in PROSITE
PS51747 CYT_DCMP_DEAMINASES_2, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_069778128V → M in MRT36. 1 Publication1
Natural variantiVAR_035804332R → C in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC011824 mRNA Translation: AAH11824.1
RefSeqiNP_001316462.1, NM_001329533.1
NP_612431.2, NM_138422.3
UniGeneiHs.144980

Genome annotation databases

EnsembliENST00000602400; ENSP00000473571; ENSG00000213638
GeneIDi113179
KEGGihsa:113179

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiADAT3_HUMAN
AccessioniPrimary (citable) accession number: Q96EY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: December 1, 2001
Last modified: May 23, 2018
This is version 118 of the entry and version 1 of the sequence. See 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

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