Property Summary

NCBI Gene PubMed Count 11
Grant Count 4
R01 Count 4
Funding $263,174.4
PubMed Score 15.86
PubTator Score 12.11

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
pancreatic cancer 1.200 0.012
adrenocortical carcinoma -1.515 0.000
intraductal papillary-mucinous neoplasm ... 1.100 0.008
lung cancer 1.300 0.000
interstitial cystitis -1.100 0.000
pancreatic carcinoma 1.200 0.012
lung carcinoma 1.100 0.000
acute myeloid leukemia -1.200 0.036
ulcerative colitis -1.100 0.002
ovarian cancer 1.400 0.000

Synonym

Accession Q6NVY1 D3DPI4 Q53GA8 Q53GF2 Q53RF7 Q53TC6 Q92931 Q9BS94
Symbols HIBYLCOAH

Gene

PANTHER Protein Class (2)

PDB

3BPT  

Gene RIF (4)

PMID Text
24299452 findings demonstrated a novel homozygous pathogenic missense mutation c.950G <A; p.Gly317Glu in the HIBCH gene, which segregated with infantile-onset neurodegeneration within a Pakistani family; HIBCH deficiency, a disorder of valine catabolism, is a novel cause of the multiple mitochondrial dysfunctions syndrome
20877624 Observational study of gene-disease association. (HuGE Navigator)
18187620 Knockdown of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
17160907 Molecular analysis in both patients uncovered mutations in the HIBCH gene, including one missense mutation in a conserved part of the protein and two mutations affecting splicing.

AA Sequence

MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYP      1 - 70
QLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIH     71 - 140
GITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRA    141 - 210
GIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEI    211 - 280
IENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVL    281 - 350
IDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF                                      351 - 386
//

Text Mined References (18)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24299452 2013 HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17160907 2007 Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
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