Stfa1 MGI Mouse Gene Detail - MGI:106198

Symbol

Stfa1
Name

stefin A1
Synonyms

Stf1

Feature Type

protein coding gene
IDs

MGI:106198
NCBI Gene: 20861
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr16:36097510-36105733 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 25.45 cM
Mapping Data

5 experiments

SNPs within 2kb

229 from dbSNP Build 142
Strain Annotations

9
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_106198	protein coding gene	Chr16:36097313-36105735 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022786	protein coding gene	Chr16:34757014-34764405 (-)
A/J	MGP_AJ_G0022752	protein coding gene	Chr16:33014822-33025025 (-)
AKR/J	MGP_AKRJ_G0022719	protein coding gene	Chr16:34059186-34126696 (+)
BALB/cJ	MGP_BALBcJ_G0022751	protein coding gene	Chr16:33131945-33140444 (-)
C3H/HeJ	no annotation
C57BL/6NJ	MGP_C57BL6NJ_G0023199	protein coding gene	Chr16:35448234-35465998 (+)
CAROLI/EiJ	no annotation
CAST/EiJ	no annotation
CBA/J	MGP_CBAJ_G0022485	protein coding gene	Chr16:37029822-37080198 (-)
DBA/2J	no annotation
FVB/NJ	no annotation
LP/J	MGP_LPJ_G0022686	protein coding gene	Chr16:34413867-34424015 (-)
NOD/ShiLtJ	no annotation
NZO/HlLtJ	MGP_NZOHlLtJ_G0023213	protein coding gene	Chr16:34188036-34189451 (-)
PWK/PhJ	no annotation
SPRET/EiJ	no annotation
WSB/EiJ	no annotation

Human Ortholog

CSTA, cystatin A

Vertebrate Orthologs

5

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

Stfa1 stringent orthology
1 human;1 mouse;1 rat;3 zebrafish
HCOP

vertebrate homology predictions: CSTA
Gene Tree

Stfa1

Diseases

1 with human CSTA associations

				Human Disease	Mouse Models
				peeling skin syndrome 4 IDs peeling skin syndrome 4 DOID:0070523 MESH:C564309 OMIM:607936

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

less

Phenotype Summary

2 phenotype references

All Mutations and Alleles

3
Endonuclease-mediated

2
Targeted

1
Incidental Mutations

CvDC
Find Mice (IMSR)

8 strains or lines available

less

All GO Annotations

20
GO References

5

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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

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

10

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas

less

All Sequences

21
RefSeq

2
UniProt

1
CCDS

CCDS37331.1

Ensembl

ENSMUSG00000071562 (Evidence)
NCBI Gene

20861

			Length	Strain/Species	Flank
genomic	20861	NCBI Gene Model \| MGI Sequence Detail	8224	C57BL/6J	± kb
transcript	NM_001082543	RefSeq \| MGI Sequence Detail	418	ZRU/MplStud
polypeptide	P35175	UniProt \| EBI \| MGI Sequence Detail	97	Not Applicable

less

UniProt

1 Sequence
Protein Ontology

PR:000015990 stefin-1

(term hierarchy)

less

All nucleic 10

cDNA 10

Microarray probesets 1

less

MGD-MRK-14621, MGD-MRK-33889

Summaries

All 26

Gene Ontology 5

Phenotypes 2
Earliest

J:4286 Tsui FW, et al., Molecular characterization and mapping of murine genes encoding three members of the stefin family of cysteine proteinase inhibitors. Genomics. 1993 Mar;15(3):507-14
Latest

J:283812 Mezzapesa A, et al., Increased levels of the megakaryocyte and platelet expressed cysteine proteases stefin A and cystatin A prevent thrombosis. Sci Rep. 2019 Jul 3;9(1):9631

TSS for Stfa1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr4866	Chr16:36097433-36097435 (+)	-76 bp
Tssr138258	Chr16:36097507-36097544 (+)	16 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/05/2024 MGI 6.24