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Protein

3-hydroxyisobutyrate dehydrogenase, mitochondrial

Gene

HIBADH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Pathway: L-valine degradation

This protein is involved in the pathway L-valine degradation, which is part of Amino-acid degradation.1 Publication
View all proteins of this organism that are known to be involved in the pathway L-valine degradation and in Amino-acid degradation.

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

GO - Biological processi

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 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:4907. HIBADH.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29280.

Polymorphism and mutation databases

BioMutaiHIBADH.
DMDMi12643395.

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

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.
GenevisibleiP31937. HS.

Organism-specific databases

HPAiHPA019522.
HPA021002.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi116289. 7 interactions.
STRINGi9606.ENSP00000265395.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
OMAiHDINEVA.
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.
IPR013328. 6PGD_dom_2.
IPR006115. 6PGDH_NADP-bd.
IPR011548. HIBADH.
IPR015815. HIBADH-related.
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:
EMBLi
GenBanki
DDBJi
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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...

Protein-protein interaction databases

BioGridi116289. 7 interactions.
STRINGi9606.ENSP00000265395.

PTM databases

PhosphoSiteiP31937.

Polymorphism and mutation databases

BioMutaiHIBADH.
DMDMi12643395.

2D gel databases

SWISS-2DPAGEP31937.

Proteomic databases

PaxDbiP31937.
PRIDEiP31937.

Protocols and materials databases

DNASUi11112.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi11112.
GeneCardsiGC07M027565.
HGNCiHGNC:4907. HIBADH.
HPAiHPA019522.
HPA021002.
MIMi608475. gene.
neXtProtiNX_P31937.
PharmGKBiPA29280.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2084.
GeneTreeiENSGT00530000063270.
HOGENOMiHOG000219610.
HOVERGENiHBG050424.
InParanoidiP31937.
KOiK00020.
OMAiHDINEVA.
OrthoDBiEOG7NSB31.
PhylomeDBiP31937.
TreeFamiTF314043.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiHIBADH. human.
EvolutionaryTraceiP31937.
GeneWikii3-hydroxyisobutyrate_dehydrogenase.
GenomeRNAii11112.
NextBioi42238.
PROiP31937.
SOURCEiSearch...

Gene expression databases

BgeeiP31937.
CleanExiHS_HIBADH.
ExpressionAtlasiP31937. baseline and differential.
GenevisibleiP31937. HS.

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.
IPR013328. 6PGD_dom_2.
IPR006115. 6PGDH_NADP-bd.
IPR011548. HIBADH.
IPR015815. HIBADH-related.
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]
ProtoNetiSearch...

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. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  11. "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: June 24, 2015
This is version 154 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.