S100A8 S100 calcium binding protein A8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100A8provided by HGNC
Official Full Name: S100 calcium binding protein A8provided by HGNC
Primary source: HGNC:HGNC:10498
See related: Ensembl:ENSG00000143546 MIM:123885; AllianceGenome:HGNC:10498
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: P8; MIF; NIF; CAGA; CFAG; CGLA; L1Ag; MRP8; CP-10; MA387; 60B8AG; S100-A8
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 the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Expression: Biased expression in bone marrow (RPKM 3778.8), esophagus (RPKM 2115.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153390032..153422583, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152527256..152559808, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153362508..153395059, complement)

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?

Proteomics of plasma-derived extracellular vesicles reveals S100A8 as a novel biomarker for Alzheimer's disease: A preliminary study.
Title: Proteomics of plasma-derived extracellular vesicles reveals S100A8 as a novel biomarker for Alzheimer's disease: A preliminary study.
Elevated levels of damage-associated molecular patterns HMGB1 and S100A8/A9 coupled with toll-like receptor-triggered monocyte activation are associated with inflammation in patients with myelofibrosis.
Title: Elevated levels of damage-associated molecular patterns HMGB1 and S100A8/A9 coupled with toll-like receptor-triggered monocyte activation are associated with inflammation in patients with myelofibrosis.
Usp14 deficiency removes alpha-synuclein by regulating S100A8/A9 in Parkinson's disease.
Title: Usp14 deficiency removes α-synuclein by regulating S100A8/A9 in Parkinson's disease.
Association Between Clinicopathological Parameters and S100A8/A9 Expression According to Smoking History in Patients With Non-small Cell Lung Cancer.
Title: Association Between Clinicopathological Parameters and S100A8/A9 Expression According to Smoking History in Patients With Non-small Cell Lung Cancer.
Serum S100A8/A9 and MMP-9 levels are elevated in systemic lupus erythematosus patients with cognitive impairment.
Title: Serum S100A8/A9 and MMP-9 levels are elevated in systemic lupus erythematosus patients with cognitive impairment.
Forkhead box A1 induces angiogenesis through activation of the S100A8/p38 MAPK axis in cutaneous wound healing.
Title: Forkhead box A1 induces angiogenesis through activation of the S100A8/p38 MAPK axis in cutaneous wound healing.
Decreased expression of S100A8/A9 in V30M related ATTRv amyloidosis.
Title: Decreased expression of S100A8/A9 in V30M related ATTRv amyloidosis.
S100A8 and S100A9 in Hematologic Malignancies: From Development to Therapy.
Title: S100A8 and S100A9 in Hematologic Malignancies: From Development to Therapy.
CD74 Promotes a Pro-Inflammatory Tumor Microenvironment by Inducing S100A8 and S100A9 Secretion in Pancreatic Cancer.
Title: CD74 Promotes a Pro-Inflammatory Tumor Microenvironment by Inducing S100A8 and S100A9 Secretion in Pancreatic Cancer.
Mutation-Driven S100A8 Overexpression Confers Aberrant Phenotypes in Type 1 CALR-Mutated MPN.
Title: Mutation-Driven S100A8 Overexpression Confers Aberrant Phenotypes in Type 1 CALR-Mutated MPN.

Submit: New GeneRIF Correction See all GeneRIFs (357)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68221 (e-PCR)
- UniSTS:37129

RH11552 (e-PCR)
- UniSTS:68514

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RAGE receptor binding	TAS Traceable Author Statement more info	PubMed
enables Toll-like receptor 4 binding	TAS Traceable Author Statement more info	PubMed
enables arachidonate binding	TAS Traceable Author Statement more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in autocrine signaling	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in chronic inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in defense response to bacterium	TAS Traceable Author Statement more info	PubMed
involved_in defense response to fungus	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in leukocyte migration involved in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in leukocyte migration involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil aggregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in neutrophil aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neutrophil chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide secretion	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-cysteine S-nitrosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell growth	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptide secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of toll-like receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in sequestering of zinc ion	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of calprotectin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of calprotectin complex	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein S100-A8

Names: calgranulin A; calprotectin L1L subunit; cystic fibrosis antigen; leukocyte L1 complex light chain; migration inhibitory factor-related protein 8; urinary stone protein band A

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_001319196.1 → NP_001306125.1 protein S100-A8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

BP209293, BU935536

Conserved Domains (2) summary

cd05030
Location:27 → 110

calgranulins; Calgranulins: S-100 domain found in proteins belonging to the Calgranulin subgroup of the S100 family of EF-hand calcium-modulated proteins, including S100A8, S100A9, and S100A12 . Note that the S-100 hierarchy, to which this Calgranulin group belongs, ...

pfam13499
Location:55 → 99

EF-hand_7; EF-hand domain pair
NM_001319197.1 → NP_001306126.1 protein S100-A8 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.

Source sequence(s)

BP226540, BU935536, X06234

UniProtKB/Swiss-Prot

P05109

Conserved Domains (2) summary

cd05030
Location:26 → 109

calgranulins; Calgranulins: S-100 domain found in proteins belonging to the Calgranulin subgroup of the S100 family of EF-hand calcium-modulated proteins, including S100A8, S100A9, and S100A12 . Note that the S-100 hierarchy, to which this Calgranulin group belongs, ...

pfam13499
Location:54 → 98

EF-hand_7; EF-hand domain pair
NM_001319198.2 → NP_001306127.1 protein S100-A8 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AA401538, AI126134, X06234

UniProtKB/Swiss-Prot

P05109

Conserved Domains (2) summary

cd05030
Location:11 → 94

calgranulins; Calgranulins: S-100 domain found in proteins belonging to the Calgranulin subgroup of the S100 family of EF-hand calcium-modulated proteins, including S100A8, S100A9, and S100A12 . Note that the S-100 hierarchy, to which this Calgranulin group belongs, ...

pfam13499
Location:39 → 83

EF-hand_7; EF-hand domain pair
NM_001319201.2 → NP_001306130.1 protein S100-A8 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).

Source sequence(s)

AA903259, X06234

Consensus CDS

CCDS1038.1

UniProtKB/Swiss-Prot

A8K5L3, D3DV37, P05109, Q5SY70, Q9UC84, Q9UC92, Q9UCJ0, Q9UCM6

Related

ENSP00000357721.1, ENST00000368732.5

Conserved Domains (1) summary

cd05030
Location:3 → 86

calgranulins; Calgranulins: S-100 domain found in proteins belonging to the Calgranulin subgroup of the S100 family of EF-hand calcium-modulated proteins, including S100A8, S100A9, and S100A12 . Note that the S-100 hierarchy, to which this Calgranulin group belongs, ...
NM_002964.5 → NP_002955.2 protein S100-A8 isoform d

See identical proteins and their annotated locations for NP_002955.2

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).

Source sequence(s)

AK291328, X06234

Consensus CDS

CCDS1038.1

UniProtKB/Swiss-Prot

A8K5L3, D3DV37, P05109, Q5SY70, Q9UC84, Q9UC92, Q9UCJ0, Q9UCM6

Related

ENSP00000357722.3, ENST00000368733.4

Conserved Domains (1) summary

cd05030
Location:3 → 86

calgranulins; Calgranulins: S-100 domain found in proteins belonging to the Calgranulin subgroup of the S100 family of EF-hand calcium-modulated proteins, including S100A8, S100A9, and S100A12 . Note that the S-100 hierarchy, to which this Calgranulin group belongs, ...