LCT R1587H [plasma membrane]

Stable Identifier
R-HSA-5657993
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
lactase-phlorizin hydrolase monomer R1587H
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
19161632 Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

Catassi, C, Savilahti, E, Routi, T, Torniainen, S, Freddara, R, Gijsbers, C, Järvelä, I, Höglund, P

BMC Gastroenterol 2009
External Reference Information
External Reference
UniProt:P09848 LCT
Gene Names
LCT, LPH
Chain
signal peptide:1-19, propeptide:20-868, chain:869-1927
Reference Genes
BioGPS Gene:3938 LCT
COSMIC (genes):LCT LCT
CTD Gene:3938 LCT
dbSNP Gene:3938 LCT
ENSEMBL:ENSG00000115850.10 LCT
HGNC:6530 LCT
KEGG Gene (Homo sapiens):3938 LCT
Monarch:3938 LCT
NCBI Gene:3938 LCT
OMIM:603202 LCT
UCSC:P09848 LCT
Reference Transcript
Other Identifiers
0003120605
11737029_at
16903067
206945_PM_at
206945_at
2577857
2577858
2577859
2577861
2577862
2577865
2577867
2577869
2577870
2577872
2577873
2577874
2577875
2577876
2577877
2577878
2577880
2577881
2577882
2577884
2577886
2577887
2577889
2577891
2577892
2577893
2577894
2577895
32917_at
3938
8055406
A_23_P79217
GE81142
GO:0000016
GO:0003824
GO:0004336
GO:0004348
GO:0004553
GO:0005886
GO:0005887
GO:0005975
GO:0005990
GO:0006629
GO:0008152
GO:0008422
GO:0016020
GO:0016021
GO:0016324
GO:0016787
GO:0016798
GO:0017042
GO:0042803
GO:0046477
GO:0080079
GO:0098591
GO:0140749
GO:1901135
GO:1901733
GO:2000892
HMNXSV003022371
ILMN_1749026
ILMN_2046073
PH_hs_0000302
TC02002374.hg
X07994_at
g4504966_3p_at
Participates
as a component of
Other forms of this molecule
LCT G1363S [plasma membrane]
LCT [plasma membrane]
Modified Residues
Name
L-arginine 1587 replaced with L-histidine
Coordinate
1587
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
lactose intolerance DOID:10604 LM - Lactose malabsorption
Cross References
RefSeq
OpenTargets
ZINC - Substances
ZINC target
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IntEnz
HPA
GeneCards
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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