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Q96NU7

- HUTI_HUMAN

UniProt

Q96NU7 - HUTI_HUMAN

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Protein

Probable imidazolonepropionase

Gene

AMDHD1

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

Functioni

Catalytic activityi

(S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate + H2O = N-formimidoyl-L-glutamate + H+.

Cofactori

Zn2+By similarity, Fe2+By similarityNote: Binds 1 zinc or iron ion per subunit.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi87 – 871Zinc or ironBy similarity
Metal bindingi89 – 891Zinc or ironBy similarity
Binding sitei96 – 961SubstrateBy similarity
Binding sitei109 – 1091SubstrateBy similarity
Binding sitei159 – 1591SubstrateBy similarity
Binding sitei192 – 1921SubstrateBy similarity
Metal bindingi260 – 2601Zinc or ironBy similarity
Binding sitei263 – 2631SubstrateBy similarity
Metal bindingi334 – 3341Zinc or ironBy similarity

GO - Molecular functioni

  1. imidazolonepropionase activity Source: UniProtKB-EC
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cellular nitrogen compound metabolic process Source: Reactome
  2. histidine catabolic process Source: Reactome
  3. histidine catabolic process to glutamate and formamide Source: UniProtKB-UniPathway
  4. histidine catabolic process to glutamate and formate Source: UniProtKB-UniPathway
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Histidine metabolism

Keywords - Ligandi

Iron, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_1249. Histidine catabolism.
UniPathwayiUPA00379; UER00551.

Protein family/group databases

MEROPSiM38.980.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable imidazolonepropionase (EC:3.5.2.7)
Alternative name(s):
Amidohydrolase domain-containing protein 1
Gene namesi
Name:AMDHD1
ORF Names:HMFT1272
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:28577. AMDHD1.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485297.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 426426Probable imidazolonepropionasePRO_0000282582Add
BLAST

Proteomic databases

MaxQBiQ96NU7.
PaxDbiQ96NU7.
PRIDEiQ96NU7.

PTM databases

PhosphoSiteiQ96NU7.

Expressioni

Gene expression databases

BgeeiQ96NU7.
CleanExiHS_AMDHD1.
GenevestigatoriQ96NU7.

Organism-specific databases

HPAiHPA039720.

Interactioni

Protein-protein interaction databases

BioGridi126836. 3 interactions.
STRINGi9606.ENSP00000266736.

Structurei

3D structure databases

ProteinModelPortaliQ96NU7.
SMRiQ96NU7. Positions 30-423.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the HutI family.Curated

Phylogenomic databases

eggNOGiCOG1228.
GeneTreeiENSGT00390000008645.
HOGENOMiHOG000218460.
HOVERGENiHBG054263.
InParanoidiQ96NU7.
KOiK01468.
OMAiICAEMLP.
OrthoDBiEOG7DVDB2.
PhylomeDBiQ96NU7.
TreeFamiTF312878.

Family and domain databases

Gene3Di2.30.40.10. 3 hits.
InterProiIPR005920. HutI.
IPR011059. Metal-dep_hydrolase_composite.
[Graphical view]
SUPFAMiSSF51338. SSF51338. 2 hits.
TIGRFAMsiTIGR01224. hutI. 1 hit.

Sequencei

Sequence statusi: Complete.

Q96NU7-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MASGHSLLLE NAQQVVLVCA RGERFLARDA LRSLAVLEGA SLVVGKDGFI
60 70 80 90 100
KAIGPADVIQ RQFSGETFEE IIDCSGKCIL PGLVDAHTHP VWAGERVHEF
110 120 130 140 150
AMKLAGATYM EIHQAGGGIH FTVERTRQAT EEELFRSLQQ RLQCMMRAGT
160 170 180 190 200
TLVECKSGYG LDLETELKML RVIERARREL DIGISATYCG AHSVPKGKTA
210 220 230 240 250
TEAADDIINN HLPKLKELGR NGEIHVDNID VFCEKGVFDL DSTRRILQRG
260 270 280 290 300
KDIGLQINFH GDELHPMKAA ELGAELGAQA ISHLEEVSDE GIVAMATARC
310 320 330 340 350
SAILLPTTAY MLRLKQPRAR KMLDEGVIVA LGSDFNPNAY CFSMPMVMHL
360 370 380 390 400
ACVNMRMSMP EALAAATINA AYALGKSHTH GSLEVGKQGD LIIINSSRWE
410 420
HLIYQFGGHH ELIEYVIAKG KLIYKT
Length:426
Mass (Da):46,743
Last modified:November 2, 2010 - v2
Checksum:iAD747F82BD00ACD3
GO

Sequence cautioni

The sequence BAD38660.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31S → G.4 Publications
Corresponds to variant rs7955450 [ dbSNP | Ensembl ].
VAR_031419
Natural varianti360 – 3601P → H.
Corresponds to variant rs17024904 [ dbSNP | Ensembl ].
VAR_031420

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS9057.1.
RefSeqiNP_689648.2. NM_152435.2.
UniGeneiHs.424907.

Genome annotation databases

EnsembliENST00000266736; ENSP00000266736; ENSG00000139344.
GeneIDi144193.
KEGGihsa:144193.
UCSCiuc001tel.2. human.

Polymorphism databases

DMDMi311033395.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS9057.1.
RefSeqi NP_689648.2. NM_152435.2.
UniGenei Hs.424907.

3D structure databases

ProteinModelPortali Q96NU7.
SMRi Q96NU7. Positions 30-423.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126836. 3 interactions.
STRINGi 9606.ENSP00000266736.

Protein family/group databases

MEROPSi M38.980.

PTM databases

PhosphoSitei Q96NU7.

Polymorphism databases

DMDMi 311033395.

Proteomic databases

MaxQBi Q96NU7.
PaxDbi Q96NU7.
PRIDEi Q96NU7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000266736 ; ENSP00000266736 ; ENSG00000139344 .
GeneIDi 144193.
KEGGi hsa:144193.
UCSCi uc001tel.2. human.

Organism-specific databases

CTDi 144193.
GeneCardsi GC12P096337.
HGNCi HGNC:28577. AMDHD1.
HPAi HPA039720.
neXtProti NX_Q96NU7.
PharmGKBi PA143485297.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1228.
GeneTreei ENSGT00390000008645.
HOGENOMi HOG000218460.
HOVERGENi HBG054263.
InParanoidi Q96NU7.
KOi K01468.
OMAi ICAEMLP.
OrthoDBi EOG7DVDB2.
PhylomeDBi Q96NU7.
TreeFami TF312878.

Enzyme and pathway databases

UniPathwayi UPA00379 ; UER00551 .
Reactomei REACT_1249. Histidine catabolism.

Miscellaneous databases

GenomeRNAii 144193.
NextBioi 84854.
PROi Q96NU7.

Gene expression databases

Bgeei Q96NU7.
CleanExi HS_AMDHD1.
Genevestigatori Q96NU7.

Family and domain databases

Gene3Di 2.30.40.10. 3 hits.
InterProi IPR005920. HutI.
IPR011059. Metal-dep_hydrolase_composite.
[Graphical view ]
SUPFAMi SSF51338. SSF51338. 2 hits.
TIGRFAMsi TIGR01224. hutI. 1 hit.
ProtoNeti Search...

Publicationsi

  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. 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.

Entry informationi

Entry nameiHUTI_HUMAN
AccessioniPrimary (citable) accession number: Q96NU7
Secondary accession number(s): A8K463, Q68CI8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: November 2, 2010
Last modified: November 26, 2014
This is version 107 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3