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CSTA cystatin A [ Homo sapiens (human) ]

Gene ID: 1475, updated on 12-Jan-2019

Summary

Official Symbol
CSTAprovided by HGNC
Official Full Name
cystatin Aprovided by HGNC
Primary source
HGNC:HGNC:2481
See related
Ensembl:ENSG00000121552 MIM:184600
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AREI; PSS4; STF1; STFA
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 families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]
Expression
Biased expression in esophagus (RPKM 1149.9), skin (RPKM 100.5) and 1 other tissue See more
Orthologs

Genomic context

See CSTA in Genome Data Viewer
Location:
3q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (122325164..122341969)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122044011..122060816)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene calcium sensing receptor Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene HNF4 motif-containing MPRA enhancer 1/2 Neighboring gene coiled-coil domain containing 58 Neighboring gene family with sequence similarity 162 member A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
MedGen: C4225407 OMIM: 607936 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration.
NHGRI GWA Catalog
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IDA
Inferred from Direct Assay
more info
PubMed 
structural molecule activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
keratinocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cornified envelope TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cystatin-A
Names
cystatin A (stefin A)
cystatin AS

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027995.1 RefSeqGene

    Range
    5001..21806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005213.4NP_005204.1  cystatin-A

    See identical proteins and their annotated locations for NP_005204.1

    Status: REVIEWED

    Source sequence(s)
    AV716538, AV717631, BC010379, BG213814
    Consensus CDS
    CCDS3011.1
    UniProtKB/Swiss-Prot
    P01040
    Related
    ENSP00000264474.3, ENST00000264474.3
    Conserved Domains (1) summary
    pfam00031
    Location:492
    Cystatin; Cystatin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    122325164..122341969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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