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Q96NU7

- HUTI_HUMAN

UniProt

Q96NU7 - HUTI_HUMAN

Protein

Probable imidazolonepropionase

Gene

AMDHD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Catalytic activityi

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

    Cofactori

    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

    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

    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. 1 interaction.
    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.
    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

    MASGHSLLLE NAQQVVLVCA RGERFLARDA LRSLAVLEGA SLVVGKDGFI    50
    KAIGPADVIQ RQFSGETFEE IIDCSGKCIL PGLVDAHTHP VWAGERVHEF 100
    AMKLAGATYM EIHQAGGGIH FTVERTRQAT EEELFRSLQQ RLQCMMRAGT 150
    TLVECKSGYG LDLETELKML RVIERARREL DIGISATYCG AHSVPKGKTA 200
    TEAADDIINN HLPKLKELGR NGEIHVDNID VFCEKGVFDL DSTRRILQRG 250
    KDIGLQINFH GDELHPMKAA ELGAELGAQA ISHLEEVSDE GIVAMATARC 300
    SAILLPTTAY MLRLKQPRAR KMLDEGVIVA LGSDFNPNAY CFSMPMVMHL 350
    ACVNMRMSMP EALAAATINA AYALGKSHTH GSLEVGKQGD LIIINSSRWE 400
    HLIYQFGGHH ELIEYVIAKG KLIYKT 426
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 1 interaction.
    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.
    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: October 1, 2014
    This is version 105 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