• Gene id: 6271

Gene Summary

• Gene Symbol: S100A1   Gene   UCSC   Ensembl
• Aliases: S100, S100-alpha, S100A
• Gene name: S100 calcium binding protein A1
• Alternate names: protein S100-A1, S-100 protein alpha chain, S-100 protein subunit alpha, S100 alpha, S100 protein, alpha polypeptide,
• Gene location: 1q21.3 (33360876: 33363486)     Exons: 4     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of ce
• OMIM: 0

Protein Summary

• Protein general information: P23297  
  • Name: Protein S100 A1 (S 100 protein alpha chain) (S 100 protein subunit alpha) (S100 calcium binding protein A1)
  • Length: 94  
  • Mass: 10546
  • Tissue specificity: Highly prevalent in heart. Also found in lesser quantities in skeletal muscle and brain. {ECO
• Sequence:

  MGSELETAMETLINVFHAHSGKEGDKYKLSKKELKELLQTELSGFLDAQKDVDAVDKVMKELDENGDGEVDFQEY
  VVLVAALTVACNNFFWENS

• Structural information:
  • Protein Domains: (13..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (50..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028486  IPR001751   IPR013787  
  • Prosite: PS00018 PS50222 PS00303
  • CDD: cd05025
  • PDB: 2L0P 2LHL 2LLS 2LLT 2LLU 2LP2 2LP3 2LUX 2M3W 5K89
  • PDBsum: 2L0P 2LHL 2LLS 2LLT 2LLU 2LP2 2LP3 2LUX 2M3W 5K89
  • STRING: ENSP00000292169
• Other Databases: GeneCards:  S100A1  Malacards:  S100A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0002224	toll-like receptor signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0031674	I band	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:1901387	positive regulation of voltage-gated calcium channel activity	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0031672	A band	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0048306	calcium-dependent protein binding	IEA	molecular function
GO:1903672	positive regulation of sprouting angiogenesis	IDA	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0021762	substantia nigra development	HEP	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0016529	sarcoplasmic reticulum	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0032991	protein-containing complex	NAS	cellular component
GO:0008016	regulation of heart contraction	NAS	biological process
GO:0044548	S100 protein binding	IPI	molecular function
GO:0044548	S100 protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0035556	intracellular signal transduction	NAS	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R