| Type | Description |
|---|---|
| Definition | hedgehog acyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 10:55:00 | we confirm that biallelic loss of function HHAT variant ( likely deleterious) cause microcephaly, skeletal dysplasia and cerebellar vermis hypoplasia. | 30912300 |
| 2020-04-04 10:40:00 | HHAT is regulated in SSc in a TGFbeta-dependent manner and in turn stimulates TGFbeta-induced long-range hedgehog signalling to promote fibroblast activation and tissue fibrosis. Targeting of HHAT might be a novel approach to more selectively interfere with the profibrotic effects of long-range hedgehog signalling. | 31177096 |
| 2016-09-10 10:07:00 | Hhat plays a critical role in ER positive, HER2 amplified, and hormone resistant breast cancer proliferation. | 25889650 |
| 2016-08-06 10:40:00 | Data suggest that substrate specificity of hedgehog acyltransferase (HHAT) in palmitoylation reaction extends to oligopeptide fragments of Sonic hedgehog protein (SHH). | 26334609 |
| 2016-01-02 12:06:00 | three distinct members [porcupine (PORCN), hedgehog (Hh) acyltransferase (HHAT) and ghrelin O-acyltransferase (GOAT)] have been shown to acylate specific proteins or peptides. | 25849925 |
| Type | IDs |
|---|---|
| Synonymous | MART2, SKI1, Skn |
| Gene |
UniProtKB-ID:
HHAT_HUMAN,
B7Z2U8_HUMAN,
B7Z5N1_HUMAN
UniprotKB:
Q5VTY9,
B7Z2U8,
B7Z5N1
UniParc:
UPI0001914DBD,
UPI0001C0B381,
UPI0001914DA8,
UPI00004CF71E,
UPI0001914C09,
UPI0001914FD3,
UPI00006275D0,
UPI000004A086,
UPI00006275D1
EMBL:
AL034351,
CH471100,
AL691441,
AK298991,
AK316190,
BC117130,
AK299200,
AK302955,
CR936628,
AK297193,
AL035414,
AL590653,
BX255872,
AK316524,
AC096636,
AK295130,
AK001586,
AL049848
Ensembl:
ENSG00000280680,
ENSG00000054392
KO:
hsa:55733
|
| Nucleutide sequences |
EMBL-CDS:
BAH14561.1,
CAI56771.1,
EAW93428.1,
EAW93430.1,
BAH14895.1,
CAB42852.1,
BAH13854.1,
EAW93427.1,
BAH12521.1,
AAI17131.1,
BAA91772.1,
BAH12917.1,
BAH11984.1,
BAH12967.1
Ensembl_TRS:
ENST00000626327,
ENST00000629360,
ENST00000625523,
ENST00000627903,
ENST00000367010,
ENST00000537898,
ENST00000413764,
ENST00000628693,
ENST00000625820,
ENST00000545154,
ENST00000261458,
ENST00000541565
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000486054,
ENSP00000486128,
ENSP00000487414,
ENSP00000416845,
ENSP00000355977,
ENSP00000261458,
ENSP00000444995,
ENSP00000442625,
ENSP00000438468,
ENSP00000487400,
ENSP00000486611,
ENSP00000486634
RefSeq:
XP_016857217.1,
XP_016857223.1,
NP_001164058.1,
XP_016857220.1,
XP_016857224.1,
XP_016857215.1,
XP_011508043.1,
XP_006711504.1,
XP_011508039.1,
XP_011508044.1,
NP_060664.2,
XP_016857232.1,
XP_016857233.1,
NP_001116306.1,
XP_011508042.1,
XP_016857230.1,
XP_016857225.1,
XP_016857219.1,
XP_016857222.1,
NP_001164059.1,
XP_011508046.1,
XP_016857231.1,
XP_016857218.1,
XP_016857226.1,
XP_016857221.1,
XP_011508041.1,
XP_011508040.1,
NP_001164051.1,
XP_011508048.1,
NP_001164035.1,
XP_011508049.1,
XP_016857227.1,
XP_016857228.1,
XP_016857229.1
|
| Others |
UniRef100:
UniRef100_B7Z5N1,
UniRef100_Q5VTY9,
UniRef100_B7Z2U8
UniRef90:
UniRef90_A0A2I2Y4W5,
UniRef90_Q5VTY9
UniRef50:
UniRef50_Q5VTY9,
UniRef50_Q5VTY9-5
UniGene:
Hs.58650
CCDS:
CCDS53473.1,
CCDS53472.1,
CCDS1495.1,
CCDS53471.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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