CYP27B1 R335P [mitochondrial outer membrane]

Stable Identifier
R-HSA-5602093
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial outer membrane
Synonyms
CYP27B1, 25-hydroxyvitamin D-1 alpha hydroxylase, CP2B_HUMAN
Locations in the PathwayBrowser
Expand all
General
The start coordinate is not yet known
External Reference Information
External Reference
UniProt:O15528 CYP27B1
Gene Names
CYP27B1, CYP1ALPHA, CYP27B
Chain
transit peptide:1-, chain:-508
Reference Genes
BioGPS Gene:1594 CYP27B1
COSMIC (genes):CYP27B1 CYP27B1
CTD Gene:1594 CYP27B1
dbSNP Gene:1594 CYP27B1
ENSEMBL:ENSG00000111012 CYP27B1
HGNC:2606 CYP27B1
KEGG:hsa:1594 CYP27B1
Monarch:1594 CYP27B1
NCBI Gene:1594 CYP27B1
OMIM:609506 CYP27B1
UCSC:O15528 CYP27B1
Reference Transcript
Other Identifiers
11722122_at
11722123_a_at
1594
16766701
205676_PM_at
205676_at
3458820
3458821
3458822
3458823
3458824
3458825
3458826
3458827
3458828
3458829
3458830
3458832
3458833
3458834
3458835
3458840
3458841
3458842
38909_at
4003235
4003236
4003238
4003239
7964535
A_23_P36397
GE53119
GO:0003824
GO:0004497
GO:0004498
GO:0005506
GO:0005737
GO:0005739
GO:0005741
GO:0006629
GO:0006766
GO:0006816
GO:0008285
GO:0010956
GO:0010980
GO:0016020
GO:0016491
GO:0016705
GO:0020037
GO:0022414
GO:0030282
GO:0030308
GO:0030500
GO:0031966
GO:0032496
GO:0033280
GO:0034341
GO:0036378
GO:0042359
GO:0042368
GO:0042369
GO:0043226
GO:0043627
GO:0045618
GO:0046697
GO:0046872
GO:0048856
GO:0055074
GO:0062185
GO:0070314
GO:0070564
HMNXSV003017836
ILMN_1740418
PH_hs_0011704
TC12001634.hg
TC12002920.hg
g4503212_3p_at
p3222
Participates
as a member of
Other forms of this molecule
CYP27B1 R389G [mitochondrial outer membrane]
CYP27B1 L343F [mitochondrial outer membrane]
CYP27B1 R107H [mitochondrial outer membrane]
CYP27B1 D320Tfs*32 [mitochondrial outer membrane]
CYP27B1 R389H [mitochondrial outer membrane]
CYP27B1 P382S [mitochondrial outer membrane]
CYP27B1 G125E [mitochondrial outer membrane]
CYP27B1(?-508) [mitochondrial outer membrane]
Modified Residues
Name
L-arginine 335 replaced with L-proline
Coordinate
335
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name Identifier Synonyms
rickets DOID:10609 vitamin D-dependent rickets, active rickets, Rickets, active
Cross References
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
IntEnz
HPA
ZINC target
PRO
Pharos - Targets
Orphanet
HMDB Protein
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