Gene: Hhat

Basic information

Tag Content
Uniprot ID Q8BMT9; B1ANS0; Q3TA33; Q922G3;
Entrez ID 226861
Genbank protein ID BAC25829.1; AAH08159.1; BAE42837.1;
Genbank nucleotide ID NM_144881.4
Ensembl protein ID ENSMUSP00000120479; ENSMUSP00000046686;
Ensembl nucleotide ID ENSMUSG00000037375
Gene name Protein-cysteine N-palmitoyltransferase HHAT
Gene symbol Hhat
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CLP
Developmental stage
Data sources Manually collected
Reference 24590292
Functional description Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling during limb development. May bind GTP.
Sequence
MLPGWELTLC LLVSLGFHFR SFYEVYKVSR EHEEELDQEF ELEMDTLFGG LKKDPTDFEW 60
NFWMEWGKRR LVWLFIGHMA VSQLATLLTK KHRPWIVMVY GMWACWCVLG APGVVMVLLH 120
STIAFCVAQF RSVLLSWLCS LLLLSTLRLQ SVEEVKRRWY KTENEYYLLQ FTLTVRCLYY 180
TSFSLELCRQ PPSAQPTPSA QGASHSYPWL LTYVFYYPVF HNGPILNFPE FFRQMQQPEL 240
NSLQHSLCIV AKGLGRLLCW WWLAELMVHL MYMHALYSSA PLLESVSCWT LGGLALAQVL 300
FFYVKYLVLF GVPALLMRLD GLTPPPLPRC VSTMFSFTGM WRYFDVGLHN FLIRYVYIPL 360
GGSQHGLLGT LLSTATTFAF VSYWHGSYED LWCWAALNWL GVTVESGVRR LLETPCVRET 420
LARHLSPQAH HRLHALLAAC STSMLILFNL VFLGGIQVGK TYWNRIFLQG WPWVTLSVLG 480
FLYCYSHVDI AWAQTYTVL 499

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologHHAT480017A0A5F4DKS6Canis lupus familiarisPredictionMore>>
1:1 orthologHHAT102188788A0A452E3S0Capra hircusPredictionMore>>
1:1 orthologHHAT55733Q5VTY9Homo sapiensPredictionMore>>
1:1 orthologHhat226861Q8BMT9CLPMus musculusPublicationMore>>
1:1 orthologHHAT469670H2Q128Pan troglodytesPredictionMore>>
1:1 orthologHHATF1S2U1Sus scrofaPredictionMore>>
1:1 orthologHhatM0R7X5Rattus norvegicusPredictionMore>>
1:1 orthologhhat560334F8W2J4Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005525 GTP bindingIEA
GO:0016409 palmitoyltransferase activityIMP
GO:0016409 palmitoyltransferase activityIBA
GO:0016746 transferase activity, transferring acyl groupsIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0007224 smoothened signaling pathwayIMP
GO:0007275 multicellular organism developmentIEA
GO:0018345 protein palmitoylationIMP
GO:0018345 protein palmitoylationIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005783 endoplasmic reticulumIBA
GO:0005789 endoplasmic reticulum membraneIEA
GO:0016021 integral component of membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-5358346 Hedgehog ligand biogenesisIEA
R-MMU-5358351 Signaling by HedgehogIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0012 Acyltransferase
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-0256 Endoplasmic reticulum
KW-0342 GTP-binding
KW-0449 Lipoprotein
KW-0472 Membrane
KW-0547 Nucleotide-binding
KW-0564 Palmitate
KW-1185 Reference proteome
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR032981 HHAT
IPR004299 MBOAT_fam

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF03062 MBOAT

Protein-miRNA interaction