S100A1 S100 calcium binding protein A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100A1provided by HGNC
Official Full Name: S100 calcium binding protein A1provided by HGNC
Primary source: HGNC:HGNC:10486
See related: Ensembl:ENSG00000160678 MIM:176940; AllianceGenome:HGNC:10486
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: S100; S100A; S100-alpha
Summary: 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 cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 773.3), salivary gland (RPKM 114.1) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153628434..153632039)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152765698..152769303)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153600910..153604515)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

S-100 and MATH-1 Protein Expressions Can Be Useful for the Prediction of Clinical Outcome in Neuroblastoma Patients.
Title: S-100 and MATH-1 Protein Expressions Can Be Useful for the Prediction of Clinical Outcome in Neuroblastoma Patients.
Up-Regulation of S100 Gene Family in Brain Samples of a Subgroup of Individuals with Schizophrenia: Meta-analysis.
Title: Up-Regulation of S100 Gene Family in Brain Samples of a Subgroup of Individuals with Schizophrenia: Meta-analysis.
S100s and HMGB1 Crosstalk in Pancreatic Cancer Tumors.
Title: S100s and HMGB1 Crosstalk in Pancreatic Cancer Tumors.
Tailored modulation of S100A1 and RASSF8 expression by butanediamide augments healing of rotator cuff tears.
Title: Tailored modulation of S100A1 and RASSF8 expression by butanediamide augments healing of rotator cuff tears.
The Role of CK7, S100A1, and CD82 (KAI1) Expression in the Differential Diagnosis of Chromophobe Renal Cell Carcinoma and Renal Oncocytoma.
Title: The Role of CK7, S100A1, and CD82 (KAI1) Expression in the Differential Diagnosis of Chromophobe Renal Cell Carcinoma and Renal Oncocytoma.
Long noncoding RNA FOXD2AS1 regulates the tumorigenesis and progression of breast cancer via the S100 calcium binding protein A1/Hippo signaling pathway.
Title: Long non‑coding RNA FOXD2‑AS1 regulates the tumorigenesis and progression of breast cancer via the S100 calcium binding protein A1/Hippo signaling pathway.
Elevated serum levels of S100A1 and zinc alpha2-glycoprotein in patients with heart failure.
Title: Elevated serum levels of S100A1 and zinc α2-glycoprotein in patients with heart failure.
Comprehensive analysis of the expression and prognosis for S100 in human ovarian cancer: A STROBE study.
Title: Comprehensive analysis of the expression and prognosis for S100 in human ovarian cancer: A STROBE study.
S100A1 blocks the interaction between p53 and mdm2 and decreases cell proliferation activity.
Title: S100A1 blocks the interaction between p53 and mdm2 and decreases cell proliferation activity.
The elevated plasma S100A1 level is an important predictor of ST-segment elevation myocardial infarction.
Title: Elevated plasma S100A1 level is a risk factor for ST-segment elevation myocardial infarction and associated with post-infarction cardiac function.

Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of S100 calcium binding protein A1 (S100A1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X58079 (e-PCR)
- UniSTS:51808

S100A1 (e-PCR)
- UniSTS:503803

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables S100 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables S100 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of nitric-oxide synthase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sprouting angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of heart contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein S100-A1

Names: S-100 protein alpha chain; S-100 protein subunit alpha; S100 alpha; S100 protein, alpha polypeptide

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.

mRNA and Protein(s)

NM_006271.2 → NP_006262.1 protein S100-A1

See identical proteins and their annotated locations for NP_006262.1

Status: REVIEWED

Source sequence(s)

AL162258, X58079

Consensus CDS

CCDS1047.1

UniProtKB/Swiss-Prot

B2R5D9, P23297, Q5T7Y3

UniProtKB/TrEMBL

A0A0S2Z4H2

Related

ENSP00000292169.2, ENST00000292169.6

Conserved Domains (1) summary

cd05025
Location:2 → 93

S-100A1; S-100A1 domain found in proteins similar to S100A1. S100A1 is a calcium-binding protein belonging to a large S100 vertebrate-specific protein family within the EF-hand superfamily of calcium-binding proteins. Note that the S-100 hierarchy, to which this ...