Q96NU7 (HUTI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable imidazolonepropionase
EC=3.5.2.7

Alternative name(s):
Amidohydrolase domain-containing protein 1

Gene names

Name:	AMDHD1
ORF Names:	HMFT1272

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	426 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Catalytic activity	(S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate + H2O = N-formimidoyl-L-glutamate + H+.
Cofactor	Binds 1 zinc or iron ion per subunit By similarity.
Pathway	Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 3/3.
Sequence similarities	Belongs to the HutI family.
Sequence caution	The sequence BAD38660.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Histidine metabolism
Coding sequence diversity	Polymorphism
Ligand	Iron Metal-binding Zinc
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	histidine catabolic process Traceable author statement. Source: Reactome histidine catabolic process to glutamate and formamide Inferred from electronic annotation. Source: UniProtKB-UniPathway histidine catabolic process to glutamate and formate Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	cytosol Traceable author statement. Source: Reactome
Molecular_function	imidazolonepropionase activity Inferred from electronic annotation. Source: EC metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 426	426	Probable imidazolonepropionase		PRO_0000282582
Sites
	Metal binding	87	1	Zinc or iron By similarity
	Metal binding	89	1	Zinc or iron By similarity
	Metal binding	260	1	Zinc or iron By similarity
	Metal binding	334	1	Zinc or iron By similarity
	Binding site	96	1	Substrate By similarity
	Binding site	109	1	Substrate By similarity
	Binding site	159	1	Substrate By similarity
	Binding site	192	1	Substrate By similarity
	Binding site	263	1	Substrate By similarity
Natural variations
	Natural variant	3	1	S → G. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs7955450 [ dbSNP | Ensembl ].		VAR_031419
	Natural variant	360	1	P → H. Corresponds to variant rs17024904 [ dbSNP | Ensembl ].		VAR_031420

Sequences

	Sequence		Length	Mass (Da)
	Q96NU7 [UniParc]. Last modified November 2, 2010. Version 2. Checksum: AD747F82BD00ACD3	FASTA	426	46,743
	10 20 30 40 50 60 MASGHSLLLE NAQQVVLVCA RGERFLARDA LRSLAVLEGA SLVVGKDGFI KAIGPADVIQ 70 80 90 100 110 120 RQFSGETFEE IIDCSGKCIL PGLVDAHTHP VWAGERVHEF AMKLAGATYM EIHQAGGGIH 130 140 150 160 170 180 FTVERTRQAT EEELFRSLQQ RLQCMMRAGT TLVECKSGYG LDLETELKML RVIERARREL 190 200 210 220 230 240 DIGISATYCG AHSVPKGKTA TEAADDIINN HLPKLKELGR NGEIHVDNID VFCEKGVFDL 250 260 270 280 290 300 DSTRRILQRG KDIGLQINFH GDELHPMKAA ELGAELGAQA ISHLEEVSDE GIVAMATARC 310 320 330 340 350 360 SAILLPTTAY MLRLKQPRAR KMLDEGVIVA LGSDFNPNAY CFSMPMVMHL ACVNMRMSMP 370 380 390 400 410 420 EALAAATINA AYALGKSHTH GSLEVGKQGD LIIINSSRWE HLIYQFGGHH ELIEYVIAKG KLIYKT

References

[1]	"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], VARIANT GLY-3. Tissue: Adrenal gland and Liver.
[2]	"Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas." Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A. Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-3. Tissue: Hepatoblastoma.
[3]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-3.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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], VARIANT GLY-3. Tissue: Colon.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK054617 mRNA. Translation: BAB70775.1. AK290828 mRNA. Translation: BAF83517.1. AB075878 mRNA. Translation: BAD38660.1. Different initiation. AC126174 Genomic DNA. No translation available. CH471054 Genomic DNA. Translation: EAW97552.1. BC029146 mRNA. Translation: AAH29146.1.
IPI	IPI00043911.
RefSeq	NP_689648.2. NM_152435.2.
UniGene	Hs.424907.
3D structure databases
HSSP	HSSP built from PDB template 2GOK based on UniProtKB Q8U8Z6.
ProteinModelPortal	Q96NU7.
SMR	Q96NU7. Positions 30-423.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000266736.
Protein family/group databases
MEROPS	M38.980.
PTM databases
PhosphoSite	Q96NU7.
Polymorphism databases
DMDM	311033395.
Proteomic databases
PaxDb	Q96NU7.
PRIDE	Q96NU7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266736; ENSP00000266736; ENSG00000139344.
GeneID	144193.
KEGG	hsa:144193.
UCSC	uc001tel.2. human.
Organism-specific databases
CTD	144193.
GeneCards	GC12P096337.
HGNC	HGNC:28577. AMDHD1.
HPA	HPA039720.
neXtProt	NX_Q96NU7.
PharmGKB	PA143485297.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1228.
HOGENOM	HOG000218460.
HOVERGEN	HBG054263.
InParanoid	Q96NU7.
KO	K01468.
OMA	MNMACTL.
OrthoDB	EOG4RR6HC.
PhylomeDB	Q96NU7.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00379; UER00551.
Gene expression databases
Bgee	Q96NU7.
CleanEx	HS_AMDHD1.
Genevestigator	Q96NU7.
Family and domain databases
InterPro	IPR005920. HutI. IPR011059. Metal-dep_hydrolase_composite. [Graphical view]
PANTHER	PTHR22642. PTHR22642. 1 hit.
SUPFAM	SSF51338. Metalo_hydrolase. 1 hit.
TIGRFAMs	TIGR01224. hutI. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	144193.
NextBio	84854.

Entry information

Entry name

HUTI_HUMAN

Accession

Primary (citable) accession number: Q96NU7
Secondary accession number(s): A8K463, Q68CI8

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 91 of the entry and version 2 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.