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SLC35D1 W311* [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5603307
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
UDP-glucuronate transporter
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective SLC35D1 causes SCHBCKD (Homo sapiens)
Defective SLC35D1 does not transport UDP-GlcA, UDPGlcNAc (Homo sapiens)
SLC35D1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
SLC35D1 W311* [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9NTN3 SLC35D1
Gene Names
SLC35D1, KIAA0260, UGTREL7
Chain
chain:1-355
Reference Genes
BioGPS Gene:23169 SLC35D1
COSMIC (genes):SLC35D1 SLC35D1
CTD Gene:23169 SLC35D1
dbSNP Gene:23169 SLC35D1
ENSEMBL:ENSG00000116704 SLC35D1
HGNC:20800 SLC35D1
KEGG:hsa:23169 SLC35D1
Monarch:23169 SLC35D1
NCBI Gene:23169 SLC35D1
OMIM:610804 SLC35D1
UCSC:Q9NTN3 SLC35D1
Reference Transcript
RefSeq:NM_015139.2 SLC35D1
Other Identifiers
11736468_at
11736469_a_at
11736470_at
16688269
209711_PM_at
209711_at
209712_PM_at
209712_at
209713_PM_s_at
209713_s_at
23169
2417099
2417100
2417101
2417102
2417103
2417106
2417113
2417115
2417118
2417120
2417121
2417122
2417123
2417124
2417125
2417128
2417129
7916808
A_23_P357929
A_24_P208091
D87449_at
GE57403
GE79365
GO:0005215
GO:0005461
GO:0005462
GO:0005463
GO:0005783
GO:0005789
GO:0005794
GO:0015297
GO:0015780
GO:0015787
GO:0015789
GO:0016020
GO:0043226
GO:0055085
GO:0090481
GO:1990569
HMNXSV003029976
Hs.82635.0.S2_3p_at
Hs.82635.0.S3_3p_at
ILMN_2057768
PH_hs_0004734
TC01002754.hg
TC01005544.hg
g11463948_3p_a_at
Participates
as a member of
SLC35D1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
SLC35D1 K42Sfs*10 [endoplasmic reticulum membrane]
SLC35D1 R107* [endoplasmic reticulum membrane]
SLC35D1 T65P [endoplasmic reticulum membrane]
SLC35D1 [endoplasmic reticulum membrane]
Modified Residues
Name
Nonsense mutation at L-tryptophan 311
Coordinate
311
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name
Identifier
Synonyms
schneckenbecken dysplasia
DOID:0050775
Cross References
Guide to Pharmacology - Targets
1149
ENSEMBL
ENST00000235345
,
ENSP00000235345
OpenTargets
ENSG00000116704
HPA
ENSG00000116704-SLC35D1
PRO
Q9NTN3
Pharos - Targets
Q9NTN3
Orphanet
SLC35D1
HMDB Protein
HMDBP03131
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