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P31937

- 3HIDH_HUMAN

UniProt

P31937 - 3HIDH_HUMAN

Protein

3-hydroxyisobutyrate dehydrogenase, mitochondrial

Gene

HIBADH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 2 (24 Jan 2001)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    3-hydroxy-2-methylpropanoate + NAD+ = 2-methyl-3-oxopropanoate + NADH.1 Publication

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei108 – 1081NAD1 Publication
    Binding sitei134 – 1341NAD1 Publication
    Active sitei209 – 2091By similarity
    Binding sitei284 – 2841NAD1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi40 – 6829NAD1 PublicationAdd
    BLAST
    Nucleotide bindingi103 – 1042NAD1 Publication

    GO - Molecular functioni

    1. 3-hydroxyisobutyrate dehydrogenase activity Source: UniProtKB
    2. NAD binding Source: InterPro
    3. phosphogluconate dehydrogenase (decarboxylating) activity Source: InterPro

    GO - Biological processi

    1. branched-chain amino acid catabolic process Source: Reactome
    2. cellular nitrogen compound metabolic process Source: Reactome
    3. pentose-phosphate shunt Source: InterPro
    4. small molecule metabolic process Source: Reactome
    5. valine catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Branched-chain amino acid catabolism

    Keywords - Ligandi

    NAD

    Enzyme and pathway databases

    ReactomeiREACT_197. Branched-chain amino acid catabolism.
    SABIO-RKP31937.
    UniPathwayiUPA00362.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    3-hydroxyisobutyrate dehydrogenase, mitochondrial (EC:1.1.1.31)
    Short name:
    HIBADH
    Gene namesi
    Name:HIBADH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:4907. HIBADH.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial matrix Source: Reactome

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29280.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3636Mitochondrion1 PublicationAdd
    BLAST
    Chaini37 – 3363003-hydroxyisobutyrate dehydrogenase, mitochondrialPRO_0000007158Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei60 – 601N6-acetyllysine; alternateBy similarity
    Modified residuei60 – 601N6-succinyllysine; alternateBy similarity
    Modified residuei76 – 761N6-acetyllysine; alternateBy similarity
    Modified residuei76 – 761N6-succinyllysine; alternateBy similarity
    Modified residuei95 – 951N6-succinyllysineBy similarity
    Modified residuei121 – 1211N6-acetyllysineBy similarity
    Modified residuei141 – 1411N6-succinyllysineBy similarity
    Modified residuei145 – 1451N6-acetyllysineBy similarity
    Modified residuei149 – 1491N6-acetyllysine; alternateBy similarity
    Modified residuei149 – 1491N6-succinyllysine; alternateBy similarity
    Modified residuei238 – 2381N6-acetyllysine; alternateBy similarity
    Modified residuei238 – 2381N6-succinyllysine; alternateBy similarity
    Modified residuei242 – 2421N6-acetyllysine; alternateBy similarity
    Modified residuei242 – 2421N6-succinyllysine; alternateBy similarity
    Modified residuei297 – 2971N6-succinyllysineBy similarity
    Modified residuei321 – 3211N6-acetyllysine; alternateBy similarity
    Modified residuei321 – 3211N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP31937.
    PaxDbiP31937.
    PRIDEiP31937.

    2D gel databases

    SWISS-2DPAGEP31937.

    PTM databases

    PhosphoSiteiP31937.

    Expressioni

    Tissue specificityi

    Detected in skin fibroblasts.1 Publication

    Gene expression databases

    ArrayExpressiP31937.
    BgeeiP31937.
    CleanExiHS_HIBADH.
    GenevestigatoriP31937.

    Organism-specific databases

    HPAiHPA019522.
    HPA021002.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Protein-protein interaction databases

    BioGridi116289. 6 interactions.
    STRINGi9606.ENSP00000265395.

    Structurei

    Secondary structure

    1
    336
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi42 – 454
    Helixi51 – 6010
    Beta strandi65 – 684
    Helixi73 – 797
    Turni80 – 823
    Helixi89 – 957
    Beta strandi97 – 1015
    Helixi106 – 1149
    Helixi119 – 1213
    Beta strandi128 – 1314
    Helixi137 – 14913
    Beta strandi153 – 1564
    Beta strandi159 – 1613
    Helixi162 – 1687
    Beta strandi171 – 1777
    Helixi179 – 1813
    Helixi182 – 1898
    Turni190 – 1923
    Beta strandi193 – 2019
    Helixi204 – 23229
    Helixi237 – 2459
    Helixi252 – 2565
    Turni261 – 2633
    Beta strandi265 – 2673
    Helixi268 – 2714
    Beta strandi275 – 2784
    Helixi279 – 29517
    Helixi301 – 31414
    Turni315 – 3173
    Helixi323 – 3253
    Helixi326 – 3305

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2GF2X-ray2.38A/B/C/D41-335[»]
    2I9PX-ray2.55A/B/C/D41-336[»]
    ProteinModelPortaliP31937.
    SMRiP31937. Positions 41-335.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP31937.

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG2084.
    HOGENOMiHOG000219610.
    HOVERGENiHBG050424.
    InParanoidiP31937.
    KOiK00020.
    OMAiYCGEVGT.
    OrthoDBiEOG7NSB31.
    PhylomeDBiP31937.
    TreeFamiTF314043.

    Family and domain databases

    Gene3Di1.10.1040.10. 1 hit.
    3.40.50.720. 1 hit.
    InterProiIPR002204. 3-OH-isobutyrate_DH-rel_CS.
    IPR008927. 6-PGluconate_DH_C-like.
    IPR006115. 6PGDH_NADP-bd.
    IPR013328. DH_multihelical.
    IPR015815. HIBADH-type.
    IPR011548. IsoBut3OH_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR029154. NADP-bd.
    [Graphical view]
    PfamiPF14833. NAD_binding_11. 1 hit.
    PF03446. NAD_binding_2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000103. HIBADH. 1 hit.
    SUPFAMiSSF48179. SSF48179. 1 hit.
    TIGRFAMsiTIGR01692. HIBADH. 1 hit.
    PROSITEiPS00895. 3_HYDROXYISOBUT_DH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P31937-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAASLRLLGA ASGLRYWSRR LRPAAGSFAA VCSRSVASKT PVGFIGLGNM    50
    GNPMAKNLMK HGYPLIIYDV FPDACKEFQD AGEQVVSSPA DVAEKADRII 100
    TMLPTSINAI EAYSGANGIL KKVKKGSLLI DSSTIDPAVS KELAKEVEKM 150
    GAVFMDAPVS GGVGAARSGN LTFMVGGVED EFAAAQELLG CMGSNVVYCG 200
    AVGTGQAAKI CNNMLLAISM IGTAEAMNLG IRLGLDPKLL AKILNMSSGR 250
    CWSSDTYNPV PGVMDGVPSA NNYQGGFGTT LMAKDLGLAQ DSATSTKSPI 300
    LLGSLAHQIY RMMCAKGYSK KDFSSVFQFL REEETF 336
    Length:336
    Mass (Da):35,329
    Last modified:January 24, 2001 - v2
    Checksum:iDA3128774A91AF48
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF529362 mRNA. Translation: AAQ09596.1.
    AB050000 mRNA. Translation: BAF42045.1.
    AK316605 mRNA. Translation: BAG38192.1.
    AC007130 Genomic DNA. No translation available.
    AC005091 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24214.1.
    CH471073 Genomic DNA. Translation: EAW93897.1.
    BC032324 mRNA. Translation: AAH32324.1.
    CCDSiCCDS5414.1.
    RefSeqiNP_689953.1. NM_152740.3.
    UniGeneiHs.406758.

    Genome annotation databases

    EnsembliENST00000265395; ENSP00000265395; ENSG00000106049.
    GeneIDi11112.
    KEGGihsa:11112.
    UCSCiuc003szf.3. human.

    Polymorphism databases

    DMDMi12643395.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF529362 mRNA. Translation: AAQ09596.1 .
    AB050000 mRNA. Translation: BAF42045.1 .
    AK316605 mRNA. Translation: BAG38192.1 .
    AC007130 Genomic DNA. No translation available.
    AC005091 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24214.1 .
    CH471073 Genomic DNA. Translation: EAW93897.1 .
    BC032324 mRNA. Translation: AAH32324.1 .
    CCDSi CCDS5414.1.
    RefSeqi NP_689953.1. NM_152740.3.
    UniGenei Hs.406758.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2GF2 X-ray 2.38 A/B/C/D 41-335 [» ]
    2I9P X-ray 2.55 A/B/C/D 41-336 [» ]
    ProteinModelPortali P31937.
    SMRi P31937. Positions 41-335.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116289. 6 interactions.
    STRINGi 9606.ENSP00000265395.

    Chemistry

    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei P31937.

    Polymorphism databases

    DMDMi 12643395.

    2D gel databases

    SWISS-2DPAGE P31937.

    Proteomic databases

    MaxQBi P31937.
    PaxDbi P31937.
    PRIDEi P31937.

    Protocols and materials databases

    DNASUi 11112.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265395 ; ENSP00000265395 ; ENSG00000106049 .
    GeneIDi 11112.
    KEGGi hsa:11112.
    UCSCi uc003szf.3. human.

    Organism-specific databases

    CTDi 11112.
    GeneCardsi GC07M027565.
    HGNCi HGNC:4907. HIBADH.
    HPAi HPA019522.
    HPA021002.
    MIMi 608475. gene.
    neXtProti NX_P31937.
    PharmGKBi PA29280.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2084.
    HOGENOMi HOG000219610.
    HOVERGENi HBG050424.
    InParanoidi P31937.
    KOi K00020.
    OMAi YCGEVGT.
    OrthoDBi EOG7NSB31.
    PhylomeDBi P31937.
    TreeFami TF314043.

    Enzyme and pathway databases

    UniPathwayi UPA00362 .
    Reactomei REACT_197. Branched-chain amino acid catabolism.
    SABIO-RK P31937.

    Miscellaneous databases

    ChiTaRSi HIBADH. human.
    EvolutionaryTracei P31937.
    GeneWikii 3-hydroxyisobutyrate_dehydrogenase.
    GenomeRNAii 11112.
    NextBioi 42238.
    PROi P31937.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P31937.
    Bgeei P31937.
    CleanExi HS_HIBADH.
    Genevestigatori P31937.

    Family and domain databases

    Gene3Di 1.10.1040.10. 1 hit.
    3.40.50.720. 1 hit.
    InterProi IPR002204. 3-OH-isobutyrate_DH-rel_CS.
    IPR008927. 6-PGluconate_DH_C-like.
    IPR006115. 6PGDH_NADP-bd.
    IPR013328. DH_multihelical.
    IPR015815. HIBADH-type.
    IPR011548. IsoBut3OH_DH.
    IPR016040. NAD(P)-bd_dom.
    IPR029154. NADP-bd.
    [Graphical view ]
    Pfami PF14833. NAD_binding_11. 1 hit.
    PF03446. NAD_binding_2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000103. HIBADH. 1 hit.
    SUPFAMi SSF48179. SSF48179. 1 hit.
    TIGRFAMsi TIGR01692. HIBADH. 1 hit.
    PROSITEi PS00895. 3_HYDROXYISOBUT_DH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A new partner gene of the TEL/ETV6, TSL, cloned in acute myeloid leukemia with t(7;12)(p15;p13)."
      Yuji K., Mitani K., Ueno H., Sato Y., Ikawa S., Hangaishi A., Ogawa S., Suzuki T., Nakamoto T., Qiao Y., Hirai H.
      Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Cloning and identification of human gene 1 transactivated by hepatitis C virus NS5A protein."
      Liu Y., Cheng J., Lu Y., Wang G., Zhang L., Chen J., Li L.
      Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "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].
      Tissue: Testis.
    4. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Lung.
    7. Cited for: PROTEIN SEQUENCE OF 37-47.
      Tissue: Liver.
    8. "Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria."
      Loupatty F.J., van der Steen A., Ijlst L., Ruiter J.P., Ofman R., Baumgartner M.R., Ballhausen D., Yamaguchi S., Duran M., Wanders R.J.
      Mol. Genet. Metab. 87:243-248(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY, PATHWAY, TISSUE SPECIFICITY.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Crystal structure of human hydroxyisobutyrate dehydrogenase."
      Structural genomics consortium (SGC)
      Submitted (APR-2006) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.38 ANGSTROMS) OF 41-335 OF APOPROTEIN AND IN COMPLEX WITH NADH.

    Entry informationi

    Entry namei3HIDH_HUMAN
    AccessioniPrimary (citable) accession number: P31937
    Secondary accession number(s): Q546Z2, Q9UDN3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: January 24, 2001
    Last modified: October 1, 2014
    This is version 147 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

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3