LCT R1587H

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

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

BMC Gastroenterol 2009
External Reference Information
External Reference
Gene Names
LCT, LPH
Chain
signal peptide:1-19, propeptide:20-868, chain:869-1927
Reference Transcript
Other Identifiers
0003120605
11737029_at
16903067
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
AAA59504
AAX88924
AC011893
CAA30801
CCDS2178
ENSG00000115850
ENSP00000264162
ENST00000264162
EntrezGene:3938
g4504966_3p_at
GE81142
GO:0000016
GO:0003674
GO:0003824
GO:0004553
GO:0005575
GO:0005623
GO:0005886
GO:0005887
GO:0005975
GO:0008150
GO:0008152
GO:0008422
GO:0016020
GO:0016021
GO:0016324
GO:0016787
GO:0016798
GO:0017042
GO:0044245
GO:1901657
H0Y4E4
HGNC:6530
HPA007408
ILMN_1749026
ILMN_2046073
IPR001360
IPR017853
IPR018120
IPR033132
LCT
LCT-201
LRG_338
M61834
M61835
M61836
M61837
M61838
M61839
M61840
M61841
M61842
M61843
M61844
M61845
M61846
M61847
M61848
M61849
M61850
MIM:223000
MIM:603202
NM_002299
NP_002290
PF00232
PH_hs_0000302
PR00131
TC02002374.hg
uc002tuu.2
UPI000013D4D2
X07994
X07994_at
XM_017004088
XP_016859577
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 1587 replaced with L-histidine
Coordinate
1587
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to an L-histidine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
lactose intolerance 10604 LM - Lactose malabsorption
Cross References
RefSeq
ZINC - Substances
GeneCards
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein