SI(1007-1826) Q1098P [plasma membrane]

Stable Identifier
R-HSA-5659901
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
sucrase fragment of sucrase-isomaltase Q1098P
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
8609217 Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment

Ouwendijk, J, Moolenaar, CE, Peters, WJ, Hollenberg, CP, Ginsel, LA, Fransen, JA, Naim, HY

J. Clin. Invest. 1996
External Reference Information
External Reference
UniProt:P14410 SI
Gene Names
SI
Chain
initiator methionine:1, chain:2-1827, chain:2-1007, chain:1008-1827
Reference Genes
BioGPS Gene:6476 SI
COSMIC (genes):SI SI
CTD Gene:6476 SI
dbSNP Gene:6476 SI
ENSEMBL:ENSG00000090402 SI
HGNC:10856 SI
KEGG:hsa:6476 SI
Monarch:6476 SI
NCBI Entrez Gene:6476 SI
OMIM:609845 SI
UCSC:P14410 SI
Reference Transcript
Other Identifiers
11731688_at
11757393_a_at
16961106
206664_PM_at
206664_at
2703752
2703753
2703754
2703755
2703756
2703757
2703758
2703759
2703760
2703762
2703763
2703764
2703765
2703766
2703767
2703768
2703769
2703770
2703772
2703773
2703774
2703775
2703776
2703777
2703778
2703779
2703780
2703781
2703783
2703784
2703785
2703786
2703787
2703788
2703789
2703791
2703792
2703793
2703795
2703796
2703797
2703799
2703800
2703801
2703802
2703803
2703804
2703805
2703806
2703807
2703808
2703809
2703810
2703811
2703813
2703814
2703815
33491_at
6476
8091811
A_32_P302205
GE59894
GO:0003824
GO:0004553
GO:0004558
GO:0004574
GO:0004575
GO:0005515
GO:0005794
GO:0005886
GO:0005903
GO:0005975
GO:0005987
GO:0016020
GO:0016324
GO:0016787
GO:0016798
GO:0030246
GO:0044245
GO:0046352
GO:0070062
GO:0090599
HMNXSV003052414
ILMN_1739144
ILMN_2045849
PH_hs_0019889
TC03001966.hg
X63597_at
g4506944_3p_at
Participates
as a component of
Other forms of this molecule
SI(1-1006) Q117R [plasma membrane]
SI(1007-1826) C1229Y [plasma membrane]
SI(1007-1826) [plasma membrane]
SI(1-1006) [plasma membrane]
Modified Residues
Name
L-glutamine 1098 replaced with L-proline
Coordinate
1098
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Cross References
RefSeq
ZINC - World Drugs
ENSEMBL
OpenTargets
Mondo
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB
ZINC - Metabolites
IntEnz
GeneCards
SI
HPA
Pharos - Targets
Orphanet
SI
ZINC - Predictions - Purchasable
HMDB Protein
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