| Type | Description |
|---|---|
| Definition | 3-hydroxyisobutyryl-CoA hydrolase |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:11:00 | A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism. | 31203192 |
| 2020-08-01 14:17:00 | The present study identified HIBCH as a critical enzyme of valine catabolism in colorectal cancer progression. | 31409769 |
| 2017-12-30 10:53:00 | Novel (founder) mutation in HIBCH that causes a mild phenotype, allowing survival into adulthood. | 27400804 |
| 2017-05-20 13:22:00 | Polymorphism in HIBCH is associated with HIBCH deficiency. | 27132595 |
| 2014-09-13 12:14:00 | findings demonstrated a novel homozygous pathogenic missense mutation c.950G |
24299452 |
| Type | IDs |
|---|---|
| Synonymous | HIBYLCOAH |
| Gene |
UniProtKB-ID:
HIBCH_HUMAN,
A0A140VJL0_HUMAN
UniprotKB:
Q6NVY1,
A0A140VJL0
UniParc:
UPI000013F16E,
UPI00001D6A08
EMBL:
CH471058,
BC067822,
BC005190,
HM005399,
U66669,
AK223023,
AC092178,
AK222979,
AC010679
Ensembl:
ENSG00000198130
KO:
hsa:26275
|
| Nucleutide sequences |
EMBL-CDS:
AAH05190.2,
EAX10875.1,
BAD96743.1,
AAX93234.1,
AAC52114.1,
BAD96699.1,
AAY24178.1,
AAH67822.1,
EAX10873.1,
AEE60997.1
Ensembl_TRS:
ENST00000359678,
ENST00000392332
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000376144,
ENSP00000352706
RefSeq:
NP_055177.2,
NP_932164.1,
XP_011509256.1,
XP_011509255.1
|
| Others |
UniRef100:
UniRef100_Q6NVY1
UniRef90:
UniRef90_Q6NVY1
UniRef50:
UniRef50_Q6NVY1
UniGene:
Hs.656685
CCDS:
CCDS2304.1,
CCDS46475.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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