CSTA (cystatin A)

Gene

• Entrez ID: 1475
• Gene name: Cystatin A
• Gene symbol: CSTA
• Synonyms: AREI, PSS4, STF1, STFA
• Chromosome: 3
• Chromosome location: 3q21.1
• Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149474339	C>T	Pathogenic	Stop gained, coding sequence variant
rs387906689	C>T	Pathogenic	Coding sequence variant, stop gained
rs398122804	A>T	Pathogenic	Splice acceptor variant
rs747711488	A>T	Pathogenic	Stop gained, coding sequence variant
rs1321015847	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT913375	hsa-miR-1225-5p	CLIP-seq
MIRT913376	hsa-miR-1293	CLIP-seq
MIRT913377	hsa-miR-141	CLIP-seq
MIRT913378	hsa-miR-199a-3p	CLIP-seq
MIRT913379	hsa-miR-199b-3p	CLIP-seq
MIRT913380	hsa-miR-200a	CLIP-seq
MIRT913381	hsa-miR-3129-5p	CLIP-seq
MIRT913382	hsa-miR-361-5p	CLIP-seq
MIRT913383	hsa-miR-3942-5p	CLIP-seq
MIRT913384	hsa-miR-4422	CLIP-seq
MIRT913385	hsa-miR-4447	CLIP-seq
MIRT913386	hsa-miR-4472	CLIP-seq
MIRT913387	hsa-miR-4483	CLIP-seq
MIRT913388	hsa-miR-4509	CLIP-seq
MIRT913389	hsa-miR-4676-5p	CLIP-seq
MIRT913390	hsa-miR-4703-5p	CLIP-seq
MIRT913391	hsa-miR-4710	CLIP-seq
MIRT913392	hsa-miR-4744	CLIP-seq
MIRT913393	hsa-miR-4797-3p	CLIP-seq
MIRT913394	hsa-miR-541	CLIP-seq
MIRT913395	hsa-miR-545	CLIP-seq
MIRT913396	hsa-miR-575	CLIP-seq
MIRT913397	hsa-miR-580	CLIP-seq
MIRT913398	hsa-miR-654-5p	CLIP-seq
MIRT913399	hsa-miR-936	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOS	Unknown	9651321
JUN	Unknown	9651321
JUND	Unknown	9651321
TFAP2C	Unknown	11095974

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	10908733
GO:0001533	Component	Cornified envelope	TAS
GO:0002020	Function	Protease binding	IPI	6203523
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA	21873635
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	3488317, 6203523
GO:0005515	Function	Protein binding	IPI	11152132, 32814053
GO:0005615	Component	Extracellular space	IDA	3488317
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21944047
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0010466	Process	Negative regulation of peptidase activity	IDA	6203523
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0018149	Process	Peptide cross-linking	IDA	10908733
GO:0030216	Process	Keratinocyte differentiation	IDA	10908733
GO:0045861	Process	Negative regulation of proteolysis	IDA	3488317
GO:0070268	Process	Cornification	TAS
GO:0098609	Process	Cell-cell adhesion	IMP	21944047

Other IDs

• MIM: 184600
• HGNC: 2481
• e!Ensembl: ENSG00000121552

Protein

• UniProt ID: P01040
• Protein name: Cystatin-A (Cystatin-AS) (Stefin-A) [Cleaved into: Cystatin-A, N-terminally processed]
• Protein function: This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.
• PDB: 1CYU, 1CYV, 1DVC, 1DVD, 1GD3, 1GD4, 1N9J, 1NB3, 1NB5, 3K9M, 3KFQ, 3KSE, 8GT0, 8GT7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00031	Cystatin	4 → 92	Cystatin domain	Domain

• Sequence:

  MIPGGLSEAKPATPEIQEIVDKVKPQLEEKTNETYGKLEAVQYKTQVVAGTNYYIKVRAG
  DNKYMHLKVFKSLPGQNEDLVLTGYQVDKNKDDELTGF

• Sequence length: 98

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Acral peeling skin syndrome	Acral peeling skin syndrome	rs112292549, rs115677373, rs606231277, rs606231278, rs778322388
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	22287159
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	rs200046052	20461718
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Peeling skin syndrome	Peeling skin syndrome, acral type, PEELING SKIN SYNDROME 4	rs398122804, rs387906689, rs387906841, rs672601343, rs606231275, rs606231277, rs747711488, rs149474339, rs374612640, rs1050823116, rs1553219199, rs1246486951, rs755087362	26684698, 21944047, 26684698

Unknown
Disease name	Disease term	dbSNP ID	References
Eczema	Eczema
Exfoliative ichthyosis	Exfoliative ichthyosis
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like	Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
Giant cell glioblastoma	Giant Cell Glioblastoma		22287159
Ichthyosis exfoliativa	ICHTHYOSIS EXFOLIATIVA		21944047
Skin erosion	Skin Erosion