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SI(1-1006) Q117R [plasma membrane]
Stable Identifier
R-HSA-5659882
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
isomaltase fragment of sucrase-isomaltase Q117R
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Intestinal saccharidase deficiencies (Homo sapiens)
Defective SI does not hydrolyze Mal (Homo sapiens)
SI mutant dimers [plasma membrane] (Homo sapiens)
sucrase-isomaltase dimer Q117R [plasma membrane] (Homo sapiens)
sucrase-isomaltase Q117R [plasma membrane] (Homo sapiens)
SI(1-1006) Q117R [plasma membrane] (Homo sapiens)
Defective SI does not hydrolyze Suc (Homo sapiens)
SI mutant dimers [plasma membrane] (Homo sapiens)
sucrase-isomaltase dimer Q117R [plasma membrane] (Homo sapiens)
sucrase-isomaltase Q117R [plasma membrane] (Homo sapiens)
SI(1-1006) Q117R [plasma membrane] (Homo sapiens)
Defective SI does not hydrolyze iMal (Homo sapiens)
SI mutant dimers [plasma membrane] (Homo sapiens)
sucrase-isomaltase dimer Q117R [plasma membrane] (Homo sapiens)
sucrase-isomaltase Q117R [plasma membrane] (Homo sapiens)
SI(1-1006) Q117R [plasma membrane] (Homo sapiens)
Defective SI does not hydrolyze maltotriose (Homo sapiens)
SI mutant dimers [plasma membrane] (Homo sapiens)
sucrase-isomaltase dimer Q117R [plasma membrane] (Homo sapiens)
sucrase-isomaltase Q117R [plasma membrane] (Homo sapiens)
SI(1-1006) Q117R [plasma membrane] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
11340066
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder
Jacob, R
,
Alfalah, M
,
Zimmer, KP
,
Spodsberg, N
,
Naim, HY
J. Biol. Chem.
2001
External Reference Information
External Reference
UniProt:P14410 SI
Gene Names
SI
Chain
initiator methionine:, 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
ENSEMBL_homo_sapiens_GENE:ENSG00000090402.8 SI
HGNC:10856 SI
KEGG Gene (Homo sapiens):6476 SI
Monarch:6476 SI
NCBI Gene:6476 SI
OMIM:609845 SI
UCSC:P14410 SI
Reference Transcript
RefSeq:NM_001041.3 SI
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
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:0005576
GO:0005615
GO:0005794
GO:0005886
GO:0005903
GO:0005975
GO:0005987
GO:0008152
GO:0016020
GO:0016324
GO:0016787
GO:0016798
GO:0030246
GO:0043226
GO:0044245
GO:0070062
GO:0090599
HMNXSV003052414
ILMN_1739144
ILMN_2045849
PH_hs_0019889
TC03001966.hg
X63597_at
g4506944_3p_at
Participates
as a component of
sucrase-isomaltase Q117R [plasma membrane] (Homo sapiens)
Other forms of this molecule
SI(1007-1826) Q1098P [plasma membrane]
SI(1007-1826) C1229Y [plasma membrane]
SI(1007-1826) [plasma membrane]
SI(1-1006) [plasma membrane]
Modified Residues
Name
L-glutamine 117 replaced with L-arginine
Coordinate
117
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name
Identifier
Synonyms
intestinal disaccharidase deficiency
DOID:9868
Cross References
RefSeq
NP_001032.2
ZINC - World Drugs
SUIS_HUMAN
OpenTargets
ENSG00000090402
ZINC - FDA approved
SUIS_HUMAN
ZINC - Substances
SUIS_HUMAN
ZINC target
P14410
ZINC - Biogenic
SUIS_HUMAN
PRO
P14410
PDB
3LPO
,
3LPP
ZINC - Metabolites
SUIS_HUMAN
IntEnz
3.2.1.48
GeneCards
P14410
HPA
ENSG00000090402-SI
Ensembl
ENSP00000264382
,
ENSG00000090402
,
ENST00000264382
Pharos - Targets
P14410
ZINC - Predictions - Purchasable
SUIS_HUMAN
Orphanet
15293
HMDB Protein
HMDBP00290
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