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CYP27B1 R107H

Stable Identifier
R-HSA-5602109
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
CYP27B1, 25-hydroxyvitamin D-1 alpha hydroxylase, CP2B_HUMAN
Locations in the PathwayBrowser
Summation

The start coordinate is not yet known

External Reference Information
External Reference
Gene Names
CYP27B1, CYP1ALPHA, CYP27B
Chain
transit peptide:1-, chain:-508
Reference Transcript
Other Identifiers
0000670403
11722122_at
11722123_a_at
1594
16766701
205676_at
38909_at
7964535
A_23_P36397
CCDS8954
CYP27B1
CYP27B1-201
ENSG00000111012
ENSP00000228606
ENST00000228606
EntrezGene:1594
g4503212_3p_at
GE53119
GO:0004497
GO:0004498
GO:0005506
GO:0005737
GO:0005739
GO:0005741
GO:0006766
GO:0006816
GO:0008285
GO:0010956
GO:0010980
GO:0016020
GO:0016491
GO:0016705
GO:0020037
GO:0030282
GO:0030308
GO:0030500
GO:0031966
GO:0032496
GO:0033280
GO:0034341
GO:0036378
GO:0042359
GO:0042369
GO:0043627
GO:0045618
GO:0046697
GO:0046872
GO:0055074
GO:0055114
GO:0070314
GO:0070564
HGNC:2606
Hs.524528
ILMN_1740418
MIM:264700
MIM:609506
NM_000785
NP_000776
PF00067
PH_hs_0011704
PR00385
PR00463
TC12001634.hg
TC12002920.hg
uc001spz.2
UPI000000D77F
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 107 replaced with L-histidine
Coordinate
107
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
rickets 10609 vitamin D-dependent rickets, active rickets, Rickets, active
Cross References
RefSeq
Brenda
GeneCards
ZINC target
PRO
Orphanet
HMDB Protein