SHH(24-462) G196V [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-5358433
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Sonic hedgehog protein precursor, SHH, SHH_HUMAN
SHH(24-462) G196V [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
19603532 The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Roessler, E, El-Jaick, KB, Dubourg, C, VĂ©lez, JI, Solomon, BD, Pineda-Alvarez, DE, Lacbawan, F, Zhou, N, Ouspenskaia, M, Paulussen, A, Smeets, HJ, Hehr, U, Bendavid, C, Bale, S, Odent, S, David, V, Muenke, M

Hum. Mutat. 2009
External Reference Information
External Reference
Gene Names
SHH
Chain
signal peptide:1-23, chain:24-462, chain:24-197
Reference Transcript
Other Identifiers
0002970504
11738265_at
17064810
207586_at
236263_at
3081218
3081219
3081220
3081221
3081222
3081223
3081224
3081225
3081226
3081227
3081229
3081230
3081231
31724_at
3HO5
3M1N
3MXW
59360_at
6469
70121_at
8144078
A_23_P111657
AAA62179
AAB67604
AAQ87879
AAS01990
AC002484
AC078834
AY422195
C9JC48
CCDS5942
CH236954
EAL23913
ENSG00000164690
ENSP00000297261
ENST00000297261
EntrezGene:6469
F8WB84
F8WEH4
g4506938_3p_at
GE619667
GO:0000003
GO:0000122
GO:0000902
GO:0001525
GO:0001569
GO:0001570
GO:0001656
GO:0001658
GO:0001708
GO:0001755
GO:0001822
GO:0001942
GO:0001944
GO:0001947
GO:0002052
GO:0002053
GO:0002076
GO:0002320
GO:0002376
GO:0003140
GO:0003674
GO:0004175
GO:0005113
GO:0005509
GO:0005515
GO:0005539
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005788
GO:0005829
GO:0005886
GO:0006355
GO:0006508
GO:0006605
GO:0006629
GO:0006810
GO:0006897
GO:0006913
GO:0006950
GO:0007010
GO:0007155
GO:0007165
GO:0007224
GO:0007228
GO:0007267
GO:0007275
GO:0007368
GO:0007389
GO:0007398
GO:0007405
GO:0007411
GO:0007417
GO:0007418
GO:0007442
GO:0007507
GO:0007596
GO:0008150
GO:0008209
GO:0008219
GO:0008233
GO:0008270
GO:0008283
GO:0008284
GO:0009056
GO:0009058
GO:0009790
GO:0009880
GO:0009949
GO:0009952
GO:0009953
GO:0009986
GO:0010463
GO:0010468
GO:0010469
GO:0010628
GO:0010629
GO:0014003
GO:0014706
GO:0014858
GO:0014902
GO:0016015
GO:0016020
GO:0016192
GO:0016539
GO:0016787
GO:0021513
GO:0021522
GO:0021794
GO:0021871
GO:0021904
GO:0021924
GO:0021930
GO:0021938
GO:0021940
GO:0021978
GO:0030010
GO:0030154
GO:0030162
GO:0030177
GO:0030178
GO:0030323
GO:0030324
GO:0030326
GO:0030336
GO:0030539
GO:0030850
GO:0030878
GO:0030900
GO:0030901
GO:0030902
GO:0031012
GO:0031016
GO:0031069
GO:0032435
GO:0033077
GO:0033089
GO:0033092
GO:0034244
GO:0034504
GO:0034641
GO:0035115
GO:0035116
GO:0040007
GO:0040011
GO:0042127
GO:0042130
GO:0042177
GO:0042307
GO:0042475
GO:0042476
GO:0042481
GO:0042733
GO:0043010
GO:0043066
GO:0043167
GO:0043226
GO:0043237
GO:0043369
GO:0043588
GO:0045059
GO:0045060
GO:0045109
GO:0045121
GO:0045165
GO:0045445
GO:0045596
GO:0045597
GO:0045880
GO:0045893
GO:0045944
GO:0046638
GO:0046639
GO:0046872
GO:0048468
GO:0048538
GO:0048546
GO:0048557
GO:0048568
GO:0048589
GO:0048598
GO:0048617
GO:0048643
GO:0048645
GO:0048646
GO:0048663
GO:0048706
GO:0048709
GO:0048714
GO:0048754
GO:0048839
GO:0048856
GO:0048859
GO:0048864
GO:0048870
GO:0051146
GO:0051155
GO:0051301
GO:0051604
GO:0051781
GO:0060020
GO:0060021
GO:0060070
GO:0060173
GO:0060174
GO:0060425
GO:0060428
GO:0060438
GO:0060439
GO:0060441
GO:0060442
GO:0060445
GO:0060447
GO:0060458
GO:0060459
GO:0060463
GO:0060484
GO:0060516
GO:0060523
GO:0060662
GO:0060664
GO:0060684
GO:0060685
GO:0060738
GO:0060768
GO:0060769
GO:0060782
GO:0060783
GO:0060840
GO:0060916
GO:0061053
GO:0061189
GO:0062023
GO:0071285
GO:0071542
GO:0072001
GO:0072136
GO:0090090
GO:0090370
GO:0097190
GO:1900175
GO:1900180
GO:1904339
GO:1905327
GO:2000062
GO:2000063
GO:2000357
GO:2000358
GO:2000729
GO:2001054
HGNC:10848
Hs.164537.0.A1_3p_at
ILMN_1652693
IPR000320
IPR001657
IPR001767
IPR003586
IPR003587
IPR006141
IPR009045
IPR036844
L38518
MIM:142945
MIM:147250
MIM:269160
MIM:600725
MIM:611638
NM_000193
NP_000184
PF01079
PF01085
PH_hs_0006769
PH_hs_0009949
PR00632
SHH
SHH-201
SM00305
SM00306
TC07002064.hg
uc003wmk.2
UPI0000135942
Participant Of
Other forms of this molecule
Modified Residues
Name
glycine 196 replaced with L-valine
Coordinate
196
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
holoprosencephaly 4621 Holoprosencephaly sequence (disorder)
Cross References
RefSeq
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
PDB
GeneCards
DOCK Blaster
ZINC - Predictions - Purchasable
Orphanet
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96QV1 HHIP  1 0.691 10
 UniProt:Q13635-1 PTCH1      0.634 4