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
3458820
3458821
3458822
3458823
3458824
3458825
3458827
3458828
3458830
3458832
3458834
3458835
38909_at
7964535
A_23_P36397
AAC51853
AAC51854
AAF64299
AAG00416
AAI36387
AAP31972
AB005038
AB005989
AB005990
AB006987
AF020192
AF027152
AF246895
AF256213
AK314953
AY288916
BAA22656
BAA22657
BAA23416
BAA23418
BAG37458
BC136386
CCDS8954
CH471054
CYP27B1
CYP27B1-201
EAW97067
ENSG00000111012
ENSP00000228606
ENST00000228606
EntrezGene:1594
F8VWR7
g4503212_3p_at
GE53119
GO:0000003
GO:0002376
GO:0003674
GO:0004497
GO:0004498
GO:0005506
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005741
GO:0006629
GO:0006766
GO:0006810
GO:0006816
GO:0006950
GO:0007049
GO:0007165
GO:0008150
GO:0008283
GO:0008285
GO:0009056
GO:0009058
GO:0010956
GO:0010980
GO:0016020
GO:0016491
GO:0016705
GO:0020037
GO:0030154
GO:0030282
GO:0030308
GO:0030500
GO:0031966
GO:0032496
GO:0033280
GO:0034341
GO:0036378
GO:0040007
GO:0042359
GO:0042369
GO:0042592
GO:0043167
GO:0043226
GO:0043627
GO:0044281
GO:0045618
GO:0046697
GO:0046872
GO:0048856
GO:0055074
GO:0055114
GO:0070314
GO:0070564
HGNC:2606
ILMN_1740418
IPR001128
IPR002401
IPR017972
IPR036396
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
GeneCards
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein