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CSTA cystatin A [ Homo sapiens (human) ]

Gene ID: 1475, updated on 8-Aug-2021

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
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Genomic context

See CSTA in Genome Data Viewer
Location:
3q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122325248..122341969)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122044095..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 mitochondrial matrix import factor 23 Neighboring gene family with sequence similarity 162 member A Neighboring gene WD repeat domain 5B

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variants associate with serum phosphorus concentration.
GeneReviews: Not available
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
GeneReviews: Not available
Peeling skin syndrome 4
MedGen: C4225407 OMIM: 607936 GeneReviews: Not available
not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cysteine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in cornified envelope TAS
Traceable Author Statement
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm 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)

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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
    5085..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, ENST00000264474.4
    Conserved Domains (1) summary
    pfam00031
    Location:492
    Cystatin; Cystatin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    122325248..122341969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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