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P31937

- 3HIDH_HUMAN

UniProt

P31937 - 3HIDH_HUMAN

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Protein

3-hydroxyisobutyrate dehydrogenase, mitochondrial

Gene

HIBADH

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP31937.
CleanExiHS_HIBADH.
ExpressionAtlasiP31937. baseline and differential.
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.
GeneTreeiENSGT00530000063270.
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

        10         20         30         40         50
MAASLRLLGA ASGLRYWSRR LRPAAGSFAA VCSRSVASKT PVGFIGLGNM
60 70 80 90 100
GNPMAKNLMK HGYPLIIYDV FPDACKEFQD AGEQVVSSPA DVAEKADRII
110 120 130 140 150
TMLPTSINAI EAYSGANGIL KKVKKGSLLI DSSTIDPAVS KELAKEVEKM
160 170 180 190 200
GAVFMDAPVS GGVGAARSGN LTFMVGGVED EFAAAQELLG CMGSNVVYCG
210 220 230 240 250
AVGTGQAAKI CNNMLLAISM IGTAEAMNLG IRLGLDPKLL AKILNMSSGR
260 270 280 290 300
CWSSDTYNPV PGVMDGVPSA NNYQGGFGTT LMAKDLGLAQ DSATSTKSPI
310 320 330
LLGSLAHQIY RMMCAKGYSK KDFSSVFQFL REEETF
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.

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.
GeneTreei ENSGT00530000063270.
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

Bgeei P31937.
CleanExi HS_HIBADH.
ExpressionAtlasi P31937. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 148 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