Csta1 MGI Mouse Gene Detail - MGI:3524930

Symbol

Csta1
Name

cystatin A1
Synonyms

Csta

Feature Type

protein coding gene
IDs

MGI:3524930
NCBI Gene: 209294
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr16:35940316-35951559 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 25.43 cM
Mapping Data

1 experiment

SNPs within 2kb

62 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3524930	protein coding gene	Chr16:35940316-35951611 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022779	protein coding gene	Chr16:34492212-34503474 (-)
A/J	MGP_AJ_G0022744	protein coding gene	Chr16:32814196-32825487 (-)
AKR/J	MGP_AKRJ_G0022717	protein coding gene	Chr16:33968262-33983881 (-)
BALB/cJ	MGP_BALBcJ_G0022746	protein coding gene	Chr16:32937249-32949997 (-)
C3H/HeJ	MGP_C3HHeJ_G0022511	protein coding gene	Chr16:34093124-34104917 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023195	protein coding gene	Chr16:35228741-35240865 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020713	protein coding gene	Chr16:33162203-33173724 (-)
CAST/EiJ	MGP_CASTEiJ_G0022039	protein coding gene	Chr16:34321596-34333323 (-)
CBA/J	MGP_CBAJ_G0022481	protein coding gene	Chr16:36681045-36695520 (-)
DBA/2J	MGP_DBA2J_G0022614	protein coding gene	Chr16:32640621-32652955 (-)
FVB/NJ	MGP_FVBNJ_G0022589	protein coding gene	Chr16:32633416-32644662 (-)
LP/J	MGP_LPJ_G0022681	protein coding gene	Chr16:34217468-34229707 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022608	protein coding gene	Chr16:35935563-35948646 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023207	protein coding gene	Chr16:34028543-34039800 (-)
PWK/PhJ	MGP_PWKPhJ_G0021780	protein coding gene	Chr16:33057324-33073334 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021611	protein coding gene	Chr16:33830385-33844757 (-)
WSB/EiJ	MGP_WSBEiJ_G0022083	protein coding gene	Chr16:33948489-33959563 (-)

Human Ortholog

CSTA, cystatin A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CSTA, cystatin A
Synonyms

AREI, PSS4, STF1, STFA
Links

HGNC:2481

NCBI Gene ID: 1475

neXtProt AC: NX_P01040

UniProt: P01040
Chr Location

3q21.1; chr3:122325248-122341969 (+) GRCh38

MGI Vertebrate Homology

Csta1 stringent orthology
1 human;1 mouse;3 zebrafish
HCOP

vertebrate homology predictions: CSTA
Gene Tree

Csta1

Diseases

1 with human CSTA associations

				Human Disease	Mouse Models
				peeling skin syndrome IDs peeling skin syndrome DOID:0060283 MESH:C564818 OMIM:PS270300 ORDO:817 UMLS_CUI:C1849193

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Endonuclease-mediated

2
Gene trapped

2
Targeted

2
Genomic Mutations

1 involving Csta1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

9 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a conditional alleles activated in the skin exhibit thin epidermis, reduced keratinocyte proliferation, decreased trabecular and compact bone mass, and decreased osteoblast cell number.

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All GO Annotations

16
GO References

3

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

12

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

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All Sequences

35
RefSeq

3
UniProt

3
CCDS

CCDS37327.1

Ensembl

ENSMUSG00000034362 (Evidence)
NCBI Gene

209294

			Length	Strain/Species	Flank
genomic	209294	NCBI Gene Model \| MGI Sequence Detail	11244	C57BL/6J	± kb
transcript	NM_001033239	RefSeq \| MGI Sequence Detail	2731	C57BL/6
polypeptide	P56567	UniProt \| EBI \| MGI Sequence Detail	97	Not Applicable

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UniProt

3 Sequences
InterPro Domains

IPR000010 Cystatin domain

IPR046350 Cystatin superfamily

IPR001713 Proteinase inhibitor I25A, stefin

IPR018073 Proteinase inhibitor I25, cystatin, conserved site

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All nucleic 12

cDNA 12

Microarray probesets 3

Summaries

All 30

Gene Ontology 3

Phenotypes 9
Earliest

J:47659 Sasaki N, et al., Characterization of gene expression in mouse blastocyst using single-pass sequencing of 3995 clones. (Errata 1998;54:583). Genomics. 1998 Apr 15;49(2):167-79
Latest

J:340112 Liang W, et al., Skin chronological aging drives age-related bone loss via secretion of cystatin-A. Nat Aging. 2022 Oct;2(10):906-922

TSS for Csta1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr140982	Chr16:35951526-35951561 (-)	15 bp
Tssr140981	Chr16:35951459-35951472 (-)	93 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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