Variant cystatin-C [extracellular region]

Stable Identifier
R-HSA-976891
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
CST3 L68Q, CST3, CYTC_HUMAN
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
2900981 Mutation in cystatin C gene causes hereditary brain haemorrhage

Palsdottir, A, Abrahamson, M, Thorsteinsson, L, Arnason, A, Olafsson, I, Grubb, A, Jensson, O

Lancet 1988
External Reference Information
External Reference
UniProt:P01034 CST3
Gene Names
CST3
Chain
signal peptide:1-26, chain:27-146
Reference Genes
BioGPS Gene:1471 CST3
COSMIC (genes):CST3 CST3
CTD Gene:1471 CST3
dbSNP Gene:1471 CST3
ENSEMBL:ENSG00000101439 CST3
HGNC:2475 CST3
KEGG Gene (Homo sapiens):1471 CST3
Monarch:1471 CST3
NCBI Gene:1471 CST3
OMIM:604312 CST3
UCSC:P01034 CST3
Reference Transcript
Other Identifiers
0000580133
11715358_x_at
11757288_s_at
118
13143
1471
16917939
1G96
1R4C
1TIJ
201360_at
230343_at
237623_at
3901297
3901298
3901299
3901300
3901301
3901302
3901303
3901308
3901309
3901310
3901311
3901312
3901313
3901314
3901318
3901319
3901320
3901321
3901322
3901323
3GAX
3NX0
3PS8
3QRD
3S67
3SVA
45850_at
8065403
A0A0K0K1J1
A_24_P216294
A_33_P3228266
A_33_P3228271
AAA52164
AAH13083
AAI10306
AAP35485
ACV87188
AK312213
AL121894
BAG35146
BC013083
BC110305
BT006839
CAA29096
CAA36497
CAA43856
CAB000118
CAG46785
CAG46815
CCDS13158
CH471133
CR541988
CR542018
CST3
CST3-201
CST3-202
CST3-203
EAX10137
EAX10138
ENSG00000101439
ENSP00000366124
ENSP00000381446
ENSP00000381448
ENST00000376925
ENST00000376925.7
ENST00000398409
ENST00000398409.1
ENST00000398411
ENST00000398411.5
EntrezGene:1471
EntrezGene:CST3
g4503106_3p_at
GE594855
GE59773
GE868472
GO:0001540
GO:0002020
GO:0002376
GO:0003674
GO:0004866
GO:0004869
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005788
GO:0005794
GO:0005886
GO:0006464
GO:0006810
GO:0006950
GO:0006952
GO:0008150
GO:0009056
GO:0010466
GO:0010711
GO:0010716
GO:0010951
GO:0016192
GO:0019899
GO:0030198
GO:0030234
GO:0030414
GO:0031410
GO:0034103
GO:0042802
GO:0043226
GO:0043312
GO:0043687
GO:0044267
GO:0045861
GO:0048856
GO:0060311
GO:0060313
GO:0070062
GO:0097435
GO:1904724
GO:1904813
GQ472213
HEL-S-2
HGNC:2475
HPA013143
Hs.211061.0.A1_3p_at
Hs.28773.0.A1_3p_at
ILMN_1800354
IPR000010
IPR018073
M27889
M27890
M27891
M27891_at
MIM:105150
MIM:604312
MIM:611953
NM_000099
NM_001288614
NP_000090
NP_001275543
PF00031
PH_hs_0015700
SM00043
TC20000715.hg
UPI000002B9AD
X05607
X52255
X61681
X61682
X61683
Participant Of
hasMember
repeatedUnit
Other forms of this molecule
CST3 [ficolin-1-rich granule lumen]
CST3 [extracellular region]
CST3 [tertiary granule lumen]
p-CST3 [endoplasmic reticulum lumen]
CST3 [endoplasmic reticulum lumen]
Modified Residues
Name
L-leucine 68 replaced with L-glutamine
Coordinate
68
PsiMod
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
PDB