CYP27B1 D320Tfs*32

Stable Identifier
R-HSA-5602192
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
Replacement of residues 320 to 350 by TRCPTRSLGLCMSSPGTPKSRQHSTQRSQLP
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