S100a1 MGI Mouse Gene Detail - MGI:1338917 - S100 calcium binding protein A1

Symbol

S100a1
Name

S100 calcium binding protein A1
Synonyms

S100, S100a

Feature Type

protein coding gene
IDs

MGI:1338917
NCBI Gene: 20193
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr3:90418341-90421637 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 39.24 cM, cytoband F1-F2
Mapping Data

6 experiments

SNPs within 2kb

171 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1338917	protein coding gene	Chr3:90418341-90421699 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027468	protein coding gene	Chr3:90833760-90837970 (-)
A/J	MGP_AJ_G0027432	protein coding gene	Chr3:87805262-87808620 (-)
AKR/J	MGP_AKRJ_G0027397	protein coding gene	Chr3:89964923-89968281 (-)
BALB/cJ	MGP_BALBcJ_G0027441	protein coding gene	Chr3:87758949-87762310 (-)
C3H/HeJ	MGP_C3HHeJ_G0027183	protein coding gene	Chr3:90128139-90131497 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027887	protein coding gene	Chr3:94238293-94241651 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025240	protein coding gene	Chr3:83301243-83304409 (-)
CAST/EiJ	MGP_CASTEiJ_G0026629	protein coding gene	Chr3:90519163-90522523 (-)
CBA/J	MGP_CBAJ_G0027158	protein coding gene	Chr3:97455181-97458539 (-)
DBA/2J	MGP_DBA2J_G0027295	protein coding gene	Chr3:87170011-87173372 (-)
FVB/NJ	MGP_FVBNJ_G0027263	protein coding gene	Chr3:85504403-85507761 (-)
LP/J	MGP_LPJ_G0027404	protein coding gene	Chr3:91890741-91894099 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027284	protein coding gene	Chr3:103687173-103690539 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027946	protein coding gene	Chr3:89713432-89716794 (-)
PWK/PhJ	MGP_PWKPhJ_G0026363	protein coding gene	Chr3:87065456-87068878 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026183	protein coding gene	Chr3:88886020-88889393 (-)
WSB/EiJ	MGP_WSBEiJ_G0026711	protein coding gene	Chr3:90119215-90122577 (-)

Human Ortholog

S100A1, S100 calcium binding protein A1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

S100A1, S100 calcium binding protein A1
Synonyms

S100, S100A, S100-alpha
Links

HGNC:10486

NCBI Gene ID: 6271

neXtProt AC: NX_P23297

UniProt: P23297
Chr Location

1q21.3; chr1:153627926-153632039 (+) GRCh38

MGI Vertebrate Homology

S100a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: S100A1
Gene Tree

S100a1

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References

1 with disease annotations

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Phenotype Summary

25 phenotypes from 5 alleles in 5 genetic backgrounds
25 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

22
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

15
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving S100a1
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous and heterozygous mice exhibit a reduced cardiac contractility in response to chronic hemodynamic stress.

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All GO Annotations

29
GO References

7

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.

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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

968
Tissues

84
cDNA Data

113
Literature Summary

32

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase s100a1

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All Sequences

40
RefSeq

2
UniProt

4
CCDS

CCDS38503.1

Ensembl

ENSMUSG00000044080 (Evidence)
NCBI Gene

20193

			Length	Strain/Species	Flank
genomic	20193	NCBI Gene Model \| MGI Sequence Detail	3297	C57BL/6J	± kb
transcript	NM_011309	RefSeq \| MGI Sequence Detail	615	ZRU/MplStud
polypeptide	P56565	UniProt \| EBI \| MGI Sequence Detail	94	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014402 protein S100-A1

(term hierarchy)
PDB

8VK3, 8VK4
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR028486 Protein S100-A1

IPR013787 S100/CaBP-9k-type, calcium binding, subdomain

IPR001751 S100/Calcium binding protein 7/8-like, conserved site

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All nucleic 119

Genomic 1

cDNA 114

Primer pair 3

Other 1

Microarray probesets 6

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MGI:2139656

Summaries

All 95

Developmental Gene Expression 32

Diseases 1

Gene Ontology 7

Phenotypes 25
Earliest

J:52324 Ridinger K, et al., Clustered organization of S100 genes in human and mouse. Biochim Biophys Acta. 1998 Dec 10;1448(2):254-63
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for S100a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34245	Chr3:90421712-90421727 (-)	-83 bp
Tssr34244	Chr3:90421677-90421686 (-)	-45 bp
Tssr34243	Chr3:90421663-90421673 (-)	-31 bp
Tssr34242	Chr3:90421557-90421641 (-)	38 bp
Tssr34241	Chr3:90419327-90419373 (-)	2,287 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 12/17/2024 MGI 6.24