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
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Literature References
PubMed ID Title Journal Year
2900981 Mutation in cystatin C gene causes hereditary brain haemorrhage

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

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
ENSEMBL_homo_sapiens_GENE:ENSG00000101439.9 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
11715358_x_at
11757288_s_at
1471
16917939
201360_PM_at
201360_at
230343_PM_at
230343_at
237623_PM_at
237623_at
3901297
3901298
3901299
3901300
3901301
3901302
3901303
3901308
3901309
3901310
3901311
3901312
3901313
3901314
3901318
3901319
3901320
3901321
3901322
3901323
45850_at
8065403
A_24_P216294
A_33_P3228266
A_33_P3228271
GE594855
GE59773
GE868472
GO:0001540
GO:0002020
GO:0004866
GO:0004869
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0005783
GO:0005788
GO:0005794
GO:0005886
GO:0006952
GO:0010466
GO:0010711
GO:0010716
GO:0030163
GO:0030198
GO:0030414
GO:0031410
GO:0031982
GO:0034103
GO:0042802
GO:0043226
GO:0045861
GO:0048856
GO:0060311
GO:0060313
GO:0070062
GO:0097435
GO:0098772
GO:1901135
GO:1904724
GO:1904813
HMNXSV003024512
HMNXSV003051337
Hs.211061.0.A1_3p_at
Hs.28773.0.A1_3p_at
ILMN_1800354
M27891_at
PH_hs_0015700
TC20000715.hg
g4503106_3p_at
Participates
as a member of
as a repeated unit of
Other forms of this molecule
CST3 [endoplasmic reticulum lumen]
p-CST3 [endoplasmic reticulum lumen]
CST3 [tertiary granule lumen]
CST3 [extracellular region]
CST3 [ficolin-1-rich granule lumen]
Modified Residues
Name
L-leucine 68 replaced with L-glutamine
Coordinate
68
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
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