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Protein

Probable inactive tRNA-specific adenosine deaminase-like protein 3

Gene

ADAT3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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

Complete GO annotation...

Keywords - Biological processi

tRNA processing

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS11914-MONOMER.
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.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

Gene expression databases

BgeeiENSG00000213638.

Organism-specific databases

HPAiHPA058899.

Interactioni

Protein-protein interaction databases

BioGridi125231. 4 interactors.
IntActiQ96EY9. 1 interactor.
STRINGi9606.ENSP00000332448.

Structurei

3D structure databases

ProteinModelPortaliQ96EY9.
SMRiQ96EY9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 CMP/dCMP-type deaminase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2771. Eukaryota.
COG0590. LUCA.
HOVERGENiHBG098143.
InParanoidiQ96EY9.
KOiK15442.
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.
PROSITEiPS51747. CYT_DCMP_DEAMINASES_2. 1 hit.
[Graphical view]

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ96EY9.
SMRiQ96EY9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125231. 4 interactors.
IntActiQ96EY9. 1 interactor.
STRINGi9606.ENSP00000332448.

PTM databases

iPTMnetiQ96EY9.
PhosphoSitePlusiQ96EY9.

Polymorphism and mutation databases

DMDMi74731634.

Proteomic databases

EPDiQ96EY9.
MaxQBiQ96EY9.
PaxDbiQ96EY9.
PeptideAtlasiQ96EY9.
PRIDEiQ96EY9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi113179.
DisGeNETi113179.
GeneCardsiADAT3.
HGNCiHGNC:25151. ADAT3.
HPAiHPA058899.
MalaCardsiADAT3.
MIMi615286. phenotype.
615302. gene.
neXtProtiNX_Q96EY9.
Orphaneti363528. Intellectual disability-strabismus syndrome.
PharmGKBiPA162375609.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2771. Eukaryota.
COG0590. LUCA.
HOVERGENiHBG098143.
InParanoidiQ96EY9.
KOiK15442.
PhylomeDBiQ96EY9.
TreeFamiTF313277.

Enzyme and pathway databases

BioCyciZFISH:HS11914-MONOMER.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.

Miscellaneous databases

GenomeRNAii113179.
PROiQ96EY9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213638.

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.
PROSITEiPS51747. CYT_DCMP_DEAMINASES_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 30, 2016
This is version 111 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.