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P31937 (3HIDH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
3-hydroxyisobutyrate dehydrogenase, mitochondrial

Short name=HIBADH
EC=1.1.1.31
Gene names
Name:HIBADH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length336 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

3-hydroxy-2-methylpropanoate + NAD+ = 2-methyl-3-oxopropanoate + NADH. Ref.8

Pathway

Amino-acid degradation; L-valine degradation. Ref.8

Subunit structure

Homodimer By similarity.

Subcellular location

Mitochondrion.

Tissue specificity

Detected in skin fibroblasts. Ref.8

Sequence similarities

Belongs to the 3-hydroxyisobutyrate dehydrogenase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3636Mitochondrion Ref.7
Chain37 – 3363003-hydroxyisobutyrate dehydrogenase, mitochondrial
PRO_0000007158

Regions

Nucleotide binding40 – 6829NAD
Nucleotide binding103 – 1042NAD

Sites

Active site2091 By similarity
Binding site1081NAD
Binding site1341NAD
Binding site2841NAD

Amino acid modifications

Modified residue601N6-acetyllysine; alternate By similarity
Modified residue601N6-succinyllysine; alternate By similarity
Modified residue761N6-acetyllysine; alternate By similarity
Modified residue761N6-succinyllysine; alternate By similarity
Modified residue951N6-succinyllysine By similarity
Modified residue1211N6-acetyllysine By similarity
Modified residue1411N6-succinyllysine By similarity
Modified residue1451N6-acetyllysine By similarity
Modified residue1491N6-acetyllysine; alternate By similarity
Modified residue1491N6-succinyllysine; alternate By similarity
Modified residue2381N6-acetyllysine; alternate By similarity
Modified residue2381N6-succinyllysine; alternate By similarity
Modified residue2421N6-acetyllysine; alternate By similarity
Modified residue2421N6-succinyllysine; alternate By similarity
Modified residue2971N6-succinyllysine By similarity
Modified residue3211N6-acetyllysine; alternate By similarity
Modified residue3211N6-succinyllysine; alternate By similarity

Secondary structure

...................................................... 336
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P31937 [UniParc].

Last modified January 24, 2001. Version 2.
Checksum: DA3128774A91AF48

FASTA33635,329
        10         20         30         40         50         60 
MAASLRLLGA ASGLRYWSRR LRPAAGSFAA VCSRSVASKT PVGFIGLGNM GNPMAKNLMK 

        70         80         90        100        110        120 
HGYPLIIYDV FPDACKEFQD AGEQVVSSPA DVAEKADRII TMLPTSINAI EAYSGANGIL 

       130        140        150        160        170        180 
KKVKKGSLLI DSSTIDPAVS KELAKEVEKM GAVFMDAPVS GGVGAARSGN LTFMVGGVED 

       190        200        210        220        230        240 
EFAAAQELLG CMGSNVVYCG AVGTGQAAKI CNNMLLAISM IGTAEAMNLG IRLGLDPKLL 

       250        260        270        280        290        300 
AKILNMSSGR CWSSDTYNPV PGVMDGVPSA NNYQGGFGTT LMAKDLGLAQ DSATSTKSPI 

       310        320        330 
LLGSLAHQIY RMMCAKGYSK KDFSSVFQFL REEETF 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]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. expand/collapse author list , 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].
[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]"Human liver protein map: update 1993."
Hughes G.J., Frutiger S., Paquet N., Pasquali C., Sanchez J.-C., Tissot J.-D., Bairoch A., Appel R.D., Hochstrasser D.F.
Electrophoresis 14:1216-1222(1993) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_689953.1. NM_152740.3.
UniGeneHs.406758.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2GF2X-ray2.38A/B/C/D41-335[»]
2I9PX-ray2.55A/B/C/D41-336[»]
ProteinModelPortalP31937.
SMRP31937. Positions 41-335.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116289. 6 interactions.
STRING9606.ENSP00000265395.

Chemistry

DrugBankDB00157. NADH.

PTM databases

PhosphoSiteP31937.

Polymorphism databases

DMDM12643395.

2D gel databases

SWISS-2DPAGEP31937.

Proteomic databases

PaxDbP31937.
PRIDEP31937.

Protocols and materials databases

DNASU11112.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265395; ENSP00000265395; ENSG00000106049.
GeneID11112.
KEGGhsa:11112.
UCSCuc003szf.3. human.

Organism-specific databases

CTD11112.
GeneCardsGC07M027565.
HGNCHGNC:4907. HIBADH.
HPAHPA019522.
HPA021002.
MIM608475. gene.
neXtProtNX_P31937.
PharmGKBPA29280.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2084.
HOGENOMHOG000219610.
HOVERGENHBG050424.
InParanoidP31937.
KOK00020.
OMANIVHCGE.
OrthoDBEOG7NSB31.
PhylomeDBP31937.
TreeFamTF314043.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
SABIO-RKP31937.
UniPathwayUPA00362.

Gene expression databases

ArrayExpressP31937.
BgeeP31937.
CleanExHS_HIBADH.
GenevestigatorP31937.

Family and domain databases

Gene3D1.10.1040.10. 1 hit.
3.40.50.720. 1 hit.
InterProIPR002204. 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.
[Graphical view]
PANTHERPTHR22981. PTHR22981. 1 hit.
PfamPF03446. NAD_binding_2. 1 hit.
[Graphical view]
PIRSFPIRSF000103. HIBADH. 1 hit.
SUPFAMSSF48179. SSF48179. 1 hit.
TIGRFAMsTIGR01692. HIBADH. 1 hit.
PROSITEPS00895. 3_HYDROXYISOBUT_DH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHIBADH. human.
EvolutionaryTraceP31937.
GeneWiki3-hydroxyisobutyrate_dehydrogenase.
GenomeRNAi11112.
NextBio42238.
PROP31937.
SOURCESearch...

Entry information

Entry name3HIDH_HUMAN
AccessionPrimary (citable) accession number: P31937
Secondary accession number(s): Q546Z2, Q9UDN3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: January 24, 2001
Last modified: March 19, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM