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Protein

Cystatin-A

Gene

CSTA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei4Reactive site1

GO - Molecular functioni

  • cysteine-type endopeptidase inhibitor activity Source: UniProtKB
  • protease binding Source: BHF-UCL
  • protein binding, bridging Source: UniProtKB
  • structural molecule activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionProtease inhibitor, Thiol protease inhibitor
Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Protein family/group databases

MEROPSiI25.001

Names & Taxonomyi

Protein namesi
Recommended name:
Cystatin-A
Alternative name(s):
Cystatin-AS
Stefin-A
Cleaved into the following chain:
Gene namesi
Name:CSTA
Synonyms:STF1, STFA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000121552.3
HGNCiHGNC:2481 CSTA
MIMi184600 gene
neXtProtiNX_P01040

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Peeling skin syndrome 4 (PSS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes.
See also OMIM:607936

Keywords - Diseasei

Ichthyosis

Organism-specific databases

DisGeNETi1475
MalaCardsiCSTA
MIMi607936 phenotype
OpenTargetsiENSG00000121552
Orphaneti263534 Acral peeling skin syndrome
289586 Exfoliative ichthyosis
PharmGKBiPA26983

Polymorphism and mutation databases

BioMutaiCSTA
DMDMi118177

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004232021 – 98Cystatin-AAdd BLAST98
Initiator methionineiRemoved; alternate1 Publication
ChainiPRO_00002071282 – 98Cystatin-A, N-terminally processedAdd BLAST97

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP01040
PaxDbiP01040
PeptideAtlasiP01040
PRIDEiP01040
ProteomicsDBi51314
TopDownProteomicsiP01040

PTM databases

iPTMnetiP01040
PhosphoSitePlusiP01040

Expressioni

Tissue specificityi

Expressed in the skin throughout the epidermis.1 Publication

Gene expression databases

BgeeiENSG00000121552 Expressed in 196 organ(s), highest expression level in mouth mucosa
CleanExiHS_CSTA
ExpressionAtlasiP01040 baseline and differential
GenevisibleiP01040 HS

Organism-specific databases

HPAiCAB000469
CAB047315
HPA001031

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107857, 36 interactors
ComplexPortaliCPX-98 Cathepsin-B - cystatin-A complex
IntActiP01040, 15 interactors
MINTiP01040
STRINGi9606.ENSP00000264474

Structurei

Secondary structure

198
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP01040
SMRiP01040
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP01040

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi46 – 50Secondary area of contact5

Sequence similaritiesi

Belongs to the cystatin family.Curated

Phylogenomic databases

eggNOGiENOG410J1PC Eukaryota
ENOG41121QW LUCA
GeneTreeiENSGT00390000015607
HOGENOMiHOG000294175
HOVERGENiHBG002292
InParanoidiP01040
KOiK13907
OMAiTGYQTDK
OrthoDBiEOG091G12NK
PhylomeDBiP01040
TreeFamiTF333174

Family and domain databases

CDDicd00042 CY, 1 hit
InterProiView protein in InterPro
IPR000010 Cystatin_dom
IPR018073 Prot_inh_cystat_CS
IPR001713 Prot_inh_stefin
PANTHERiPTHR11414 PTHR11414, 1 hit
PfamiView protein in Pfam
PF00031 Cystatin, 1 hit
PRINTSiPR00295 STEFINA
SMARTiView protein in SMART
SM00043 CY, 1 hit
PROSITEiView protein in PROSITE
PS00287 CYSTATIN, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P01040-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIPGGLSEAK PATPEIQEIV DKVKPQLEEK TNETYGKLEA VQYKTQVVAG
60 70 80 90
TNYYIKVRAG DNKYMHLKVF KSLPGQNEDL VLTGYQVDKN KDDELTGF
Length:98
Mass (Da):11,006
Last modified:July 21, 1986 - v1
Checksum:i2F5F0D61C91305EE
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J0E4C9J0E4_HUMAN
Cystatin-A
CSTA
63Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04885196T → M. Corresponds to variant dbSNP:rs34173813Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X05978 mRNA Translation: CAA29398.1
D88422 Genomic DNA Translation: BAA13609.1
AB007774 Genomic DNA Translation: BAA87858.1
AK291308 mRNA Translation: BAF83997.1
CR456914 mRNA Translation: CAG33195.1
CH471052 Genomic DNA Translation: EAW79489.1
BC010379 mRNA Translation: AAH10379.1
CCDSiCCDS3011.1
PIRiA29139 UDHUS
RefSeqiNP_005204.1, NM_005213.3
UniGeneiHs.518198

Genome annotation databases

EnsembliENST00000264474; ENSP00000264474; ENSG00000121552
GeneIDi1475
KEGGihsa:1475
UCSCiuc003eex.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X05978 mRNA Translation: CAA29398.1
D88422 Genomic DNA Translation: BAA13609.1
AB007774 Genomic DNA Translation: BAA87858.1
AK291308 mRNA Translation: BAF83997.1
CR456914 mRNA Translation: CAG33195.1
CH471052 Genomic DNA Translation: EAW79489.1
BC010379 mRNA Translation: AAH10379.1
CCDSiCCDS3011.1
PIRiA29139 UDHUS
RefSeqiNP_005204.1, NM_005213.3
UniGeneiHs.518198

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1CYUNMR-A1-98[»]
1CYVNMR-A1-98[»]
1DVCNMR-A1-98[»]
1DVDNMR-A1-98[»]
1GD3NMR-A1-98[»]
1GD4NMR-A1-98[»]
1N9JNMR-A/B1-98[»]
1NB3X-ray2.80I/J/K/L1-98[»]
1NB5X-ray2.40I/J/K/L1-98[»]
3K9MX-ray2.61C/D1-98[»]
3KFQX-ray1.99C/D1-98[»]
3KSEX-ray1.71D/E/F1-98[»]
ProteinModelPortaliP01040
SMRiP01040
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107857, 36 interactors
ComplexPortaliCPX-98 Cathepsin-B - cystatin-A complex
IntActiP01040, 15 interactors
MINTiP01040
STRINGi9606.ENSP00000264474

Protein family/group databases

MEROPSiI25.001

PTM databases

iPTMnetiP01040
PhosphoSitePlusiP01040

Polymorphism and mutation databases

BioMutaiCSTA
DMDMi118177

Proteomic databases

EPDiP01040
PaxDbiP01040
PeptideAtlasiP01040
PRIDEiP01040
ProteomicsDBi51314
TopDownProteomicsiP01040

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264474; ENSP00000264474; ENSG00000121552
GeneIDi1475
KEGGihsa:1475
UCSCiuc003eex.4 human

Organism-specific databases

CTDi1475
DisGeNETi1475
EuPathDBiHostDB:ENSG00000121552.3
GeneCardsiCSTA
HGNCiHGNC:2481 CSTA
HPAiCAB000469
CAB047315
HPA001031
MalaCardsiCSTA
MIMi184600 gene
607936 phenotype
neXtProtiNX_P01040
OpenTargetsiENSG00000121552
Orphaneti263534 Acral peeling skin syndrome
289586 Exfoliative ichthyosis
PharmGKBiPA26983
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J1PC Eukaryota
ENOG41121QW LUCA
GeneTreeiENSGT00390000015607
HOGENOMiHOG000294175
HOVERGENiHBG002292
InParanoidiP01040
KOiK13907
OMAiTGYQTDK
OrthoDBiEOG091G12NK
PhylomeDBiP01040
TreeFamiTF333174

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

ChiTaRSiCSTA human
EvolutionaryTraceiP01040
GeneWikiiCystatin_A
GenomeRNAii1475
PROiPR:P01040
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121552 Expressed in 196 organ(s), highest expression level in mouth mucosa
CleanExiHS_CSTA
ExpressionAtlasiP01040 baseline and differential
GenevisibleiP01040 HS

Family and domain databases

CDDicd00042 CY, 1 hit
InterProiView protein in InterPro
IPR000010 Cystatin_dom
IPR018073 Prot_inh_cystat_CS
IPR001713 Prot_inh_stefin
PANTHERiPTHR11414 PTHR11414, 1 hit
PfamiView protein in Pfam
PF00031 Cystatin, 1 hit
PRINTSiPR00295 STEFINA
SMARTiView protein in SMART
SM00043 CY, 1 hit
PROSITEiView protein in PROSITE
PS00287 CYSTATIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCYTA_HUMAN
AccessioniPrimary (citable) accession number: P01040
Secondary accession number(s): Q6IB90
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: November 7, 2018
This is version 195 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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