HHAT G287V [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5483226
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MART2, SKI1
HHAT G287V [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
24784881 Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

Callier, P, Calvel, P, Matevossian, A, Makrythanasis, P, Bernard, P, Kurosaka, H, Vannier, A, Thauvin-Robinet, C, Borel, C, Mazaud-Guittot, S, Rolland, A, Desdoits-Lethimonier, C, Guipponi, M, Zimmermann, C, Stévant, I, Kuhne, F, Conne, B, Santoni, F, Lambert, S, Huet, F, Mugneret, F, Jaruzelska, J, Faivre, L, Wilhelm, D, Jégou, B, Trainor, PA, Resh, MD, Antonarakis, SE, Nef, S

PLoS Genet. 2014
External Reference Information
External Reference
Gene Names
HHAT, MART2, SKI1
Chain
chain:1-493
Other Identifiers
0004570731
11750437_a_at
11756903_a_at
16677082
219687_at
2378388
2378390
2378391
2378392
2378393
2378394
2378395
2378398
2378399
2378402
2378403
2378404
2378405
2378407
2378412
2378423
2378431
2378444
2378453
2378458
2378459
2378460
2378461
2378472
51871_at
55733
7909510
A_14_P131922
A_23_P136355
GE82322
GO:0000166
GO:0003674
GO:0005525
GO:0005575
GO:0005622
GO:0005737
GO:0005783
GO:0005789
GO:0006464
GO:0007165
GO:0007224
GO:0007275
GO:0008150
GO:0008374
GO:0009058
GO:0016020
GO:0016021
GO:0016409
GO:0016740
GO:0016746
GO:0018345
GO:0043167
GO:0043226
GO:0048856
ILMN_1693853
PH_hs_0003774
TC01001755.hg
g8922620_3p_at
Other forms of this molecule
Modified Residues
Name
glycine 287 replaced with L-valine
Coordinate
287
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
46 XY gonadal dysgenesis 14448 Pure gonadal dysgenesis 46,XY (disorder), 46,XY SEX REVERSAL
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