Q9BUB4 (ADAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
tRNA-specific adenosine deaminase 1
Short name=hADAT1
EC=3.5.4.34

Alternative name(s):
tRNA-specific adenosine-37 deaminase

Gene names

Name:

ADAT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	502 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Specifically deaminates adenosine-37 to inosine in tRNA-Ala.
Catalytic activity	Adenine37 in tRNA(Ala) + H2O = hypoxanthine37 in tRNA(Ala) + NH3. Ref.1
Cofactor	Binds 1 inositol hexakisphosphate (IP6) per subunit By similarity.
Tissue specificity	Ubiquitously expressed. Ref.1
Sequence similarities	Belongs to the ADAT1 family. Contains 1 A to I editase domain.

Ontologies

Keywords
Biological process	tRNA processing
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	Metal-binding Zinc
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	tRNA processing Inferred from mutant phenotype Ref.1. Source: UniProtKB
Molecular_function	RNA binding Inferred from mutant phenotype Ref.1. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW tRNA-specific adenosine deaminase activity Inferred from mutant phenotype Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BUB4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BUB4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-149: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 502	502	tRNA-specific adenosine deaminase 1		PRO_0000287646
Regions
	Domain	63 – 501	439	A to I editase
Sites
	Active site	89	1	Proton donor By similarity
	Metal binding	87	1	Zinc By similarity
	Metal binding	142	1	Zinc By similarity
	Metal binding	299	1	Zinc By similarity
	Binding site	93	1	Inositol hexakisphosphate By similarity
	Binding site	94	1	Inositol hexakisphosphate By similarity
	Binding site	302	1	Inositol hexakisphosphate By similarity
	Binding site	305	1	Inositol hexakisphosphate By similarity
	Binding site	435	1	Inositol hexakisphosphate By similarity
	Binding site	470	1	Inositol hexakisphosphate By similarity
Natural variations
	Alternative sequence	1 – 149	149	Missing in isoform 2.		VSP_025579
	Natural variant	167	1	H → N. Ref.1 Corresponds to variant rs3743598 [ dbSNP | Ensembl ].		VAR_032340
	Natural variant	203	1	T → N. Corresponds to variant rs3743599 [ dbSNP | Ensembl ].		VAR_032341
	Natural variant	226	1	I → V. Corresponds to variant rs56029288 [ dbSNP | Ensembl ].		VAR_061098
	Natural variant	242	1	T → P. Corresponds to variant rs3743600 [ dbSNP | Ensembl ].		VAR_055649
Experimental info
	Sequence conflict	61	1	V → I in AAD48376. Ref.1
	Sequence conflict	153	1	F → L in BAA91837. Ref.2
	Sequence conflict	254	1	I → T in AAD48376. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 3664E4C50DA9DFE0	FASTA	502	55,392
	10 20 30 40 50 60 MWTADEIAQL CYEHYGIRLP KKGKPEPNHE WTLLAAVVKI QSPADKACDT PDKPVQVTKE 70 80 90 100 110 120 VVSMGTGTKC IGQSKMRKNG DILNDSHAEV IARRSFQRYL LHQLQLAATL KEDSIFVPGT 130 140 150 160 170 180 QKGVWKLRRD LIFVFFSSHT PCGDASIIPM LEFEDQPCCP VFRNWAHNSS VEASSNLEAP 190 200 210 220 230 240 GNERKCEDPD SPVTKKMRLE PGTAAREVTN GAAHHQSFGK QKSGPISPGI HSCDLTVEGL 250 260 270 280 290 300 ATVTRIAPGS AKVIDVYRTG AKCVPGEAGD SGKPGAAFHQ VGLLRVKPGR GDRTRSMSCS 310 320 330 340 350 360 DKMARWNVLG CQGALLMHLL EEPIYLSAVV IGKCPYSQEA MQRALIGRCQ NVSALPKGFG 370 380 390 400 410 420 VQELKILQSD LLFEQSRSAV QAKRADSPGR LVPCGAAISW SAVPEQPLDV TANGFPQGTT 430 440 450 460 470 480 KKTIGSLQAR SQISKVELFR SFQKLLSRIA RDKWPHSLRV QKLDTYQEYK EAASSYQEAW 490 500 STLRKQVFGS WIRNPPDYHQ FK
	Isoform 2 [UniParc]. Checksum: 8251C7D7E53A9EDA	FASTA	353	38,706
	10 20 30 40 50 60 MLEFEDQPCC PVFRNWAHNS SVEASSNLEA PGNERKCEDP DSPVTKKMRL EPGTAAREVT 70 80 90 100 110 120 NGAAHHQSFG KQKSGPISPG IHSCDLTVEG LATVTRIAPG SAKVIDVYRT GAKCVPGEAG 130 140 150 160 170 180 DSGKPGAAFH QVGLLRVKPG RGDRTRSMSC SDKMARWNVL GCQGALLMHL LEEPIYLSAV 190 200 210 220 230 240 VIGKCPYSQE AMQRALIGRC QNVSALPKGF GVQELKILQS DLLFEQSRSA VQAKRADSPG 250 260 270 280 290 300 RLVPCGAAIS WSAVPEQPLD VTANGFPQGT TKKTIGSLQA RSQISKVELF RSFQKLLSRI 310 320 330 340 350 ARDKWPHSLR VQKLDTYQEY KEAASSYQEA WSTLRKQVFG SWIRNPPDYH QFK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a human tRNA-specific adenosine deaminase related to the ADAR family of pre-mRNA editing enzymes." Maas S., Gerber A.P., Rich A. Proc. Natl. Acad. Sci. U.S.A. 96:8895-8900(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CATALYTIC ACTIVITY, TISSUE SPECIFICITY, VARIANT ASN-167. Tissue: Brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Teratocarcinoma.
[3]	"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] (ISOFORM 1). Tissue: Uterus.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF125188 mRNA. Translation: AAD48376.1. AK001687 mRNA. Translation: BAA91837.1. BC002758 mRNA. Translation: AAH02758.1.
IPI	IPI00305945. IPI00645605.
RefSeq	NP_036223.2. NM_012091.3.
UniGene	Hs.729312.
3D structure databases
HSSP	HSSP built from PDB template 1ZY7 based on UniProtKB P78563.
ProteinModelPortal	Q9BUB4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000310015.
PTM databases
PhosphoSite	Q9BUB4.
Polymorphism databases
DMDM	74733201.
Proteomic databases
PaxDb	Q9BUB4.
PRIDE	Q9BUB4.
Protocols and materials databases
DNASU	23536.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307921; ENSP00000310015; ENSG00000065457.
GeneID	23536.
KEGG	hsa:23536.
UCSC	uc002feo.2. human.
Organism-specific databases
CTD	23536.
GeneCards	GC16M075632.
HGNC	HGNC:228. ADAT1.
HPA	HPA040713. HPA040903.
MIM	604230. gene.
neXtProt	NX_Q9BUB4.
PharmGKB	PA24558.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG269429.
HOGENOM	HOG000237320.
HOVERGEN	HBG059724.
InParanoid	Q9BUB4.
KO	K15440.
OMA	AVVIGKC.
OrthoDB	EOG4BRWKM.
PhylomeDB	Q9BUB4.
Gene expression databases
ArrayExpress	Q9BUB4.
Bgee	Q9BUB4.
CleanEx	HS_ADAT1.
Genevestigator	Q9BUB4.
Family and domain databases
InterPro	IPR002466. A_deamin. [Graphical view]
Pfam	PF02137. A_deamin. 1 hit. [Graphical view]
SMART	SM00552. ADEAMc. 1 hit. [Graphical view]
PROSITE	PS50141. A_DEAMIN_EDITASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23536.
NextBio	46034.
SOURCE	Search...

Entry information

Entry name

ADAT1_HUMAN

Accession

Primary (citable) accession number: Q9BUB4
Secondary accession number(s): Q9NVB7, Q9UNG3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.