S100A4 S100 calcium binding protein A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100A4provided by HGNC
Official Full Name: S100 calcium binding protein A4provided by HGNC
Primary source: HGNC:HGNC:10494
See related: Ensembl:ENSG00000196154 MIM:114210
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: 42A; 18A2; CAPL; FSP1; MTS1; P9KA; PEL98
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 motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lung (RPKM 268.4), bone marrow (RPKM 235.9) and 21 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 1q21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (153543621..153545806, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153516095..153518282, 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
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?

IL1B promotes the nuclear translocaiton of S100A4 protein in gastric cancer cells and the cell's stem-like properties through PI3K pathway.
Title: IL-1β promotes the nuclear translocaiton of S100A4 protein in gastric cancer cells MGC803 and the cell's stem-like properties through PI3K pathway.
S100A4 protein levels and the amount of S100A4+ macrophages correlated with the occurrence of idiopathic pulmonary fibrosis
Title: S100A4<sup>+</sup> Macrophages Are Necessary for Pulmonary Fibrosis by Activating Lung Fibroblasts.
Found S100 calcium binding protein A4 (S100A4)to be a biomarker of insulin resistance and pernicious adipose tissue in obese and non-obese individuals.
Title: Screening of potential adipokines identifies S100A4 as a marker of pernicious adipose tissue and insulin resistance.
The S100A4- breast cancer cells -tumor-associated macrophages interaction cascade could be an important contributor to the aggressive behavior of this subtype and should be further explored for therapeutic targeting.
Title: Basal-like breast cancer engages tumor-supportive macrophages via secreted factors induced by extracellular S100A4.
Study discovered that ATP could upregulate both the intracellular expression and secretion of S100A4 in breast cancer cells and fibroblasts. Apart from stimulating breast cancer cell motility via intracellular S100A4, ATP enhanced the ability of breast cancer cells to transform fibroblasts into cancer-associated fibroblast (CAF)-like cells, which in turn secreted S100A4 to further promote cancer cell motility.
Title: Extracellular ATP drives breast cancer cell migration and metastasis via S100A4 production by cancer cells and fibroblasts.
This work represents an advance in biomedical sci-ence because it shows that, unlike CA-125, serum S100A4 can discriminate between normal and epithelial ovarian cancer patients, especially in early-stage disease, and may be a novel diagnostic and prognostic marker for ovarian cancer.
Title: Serum S100 calcium binding protein A4 (S100A4, metatasin) as a diagnostic and prognostic biomarker in epithelial ovarian cancer.
S100A4 is also playing a role in the MC life cycle and functions.
Title: Expression and modulation of S100A4 protein by human mast cells.
The results of the study show that the ability of breast cancer cells to migrate depends on the S100A4 protein concentration in the cell.
Title: The Expression Level of S100A4 Protein Affects the Migration Activity of Breast Cancer Cells.
Data provide evidence that S100A4 plays a major role as damage-associated molecular patterns (DAMPs) protein enhancing inflammation in cancer and a wide range of pathological conditions. [review]
Title: The Multifaceted S100A4 Protein in Cancer and Inflammation.
a change in MITF transcriptional activity from repression to activation of S100A4 that results from a point mutation in MITF alters melanoma invasive ability. These data suggest new opportunities for diagnosis and treatment of metastatic melanoma.
Title: Mutated MITF-E87R in Melanoma Enhances Tumor Progression via S100A4.

Submit: New GeneRIF Correction See all GeneRIFs (258)

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

RH11477 (e-PCR)
- UniSTS:50213

RH70249 (e-PCR)
- UniSTS:31545

RH70973 (e-PCR)
- UniSTS:43654

D1S3498 (e-PCR)
- UniSTS:31707

Homology

Homologs of the S100A4 gene: The S100A4 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 105 organisms have orthologs with human gene S100A4
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
RAGE receptor binding	IPI Inferred from Physical Interaction more info	PubMed
RNA binding	HDA more info	PubMed
actin binding	IEA Inferred from Electronic Annotation more info
calcium ion binding	IEA Inferred from Electronic Annotation more info
calcium-dependent protein binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transition metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
epithelial to mesenchymal transition	TAS Traceable Author Statement more info	PubMed
positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
collagen-containing extracellular matrix	HDA more info	PubMed
extracellular exosome	HDA more info	PubMed
extracellular region	HDA more info	PubMed
extracellular space	HDA more info	PubMed
neuron projection	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein S100-A4

Names: S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog); calcium placental protein; fibroblast-specific protein-1; leukemia multidrug resistance associated protein; malignant transformation suppression 1; metastasin 1; murine placental homolog; placental calcium-binding protein; protein Mts1

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.

Genomic

NG_027993.1 RefSeqGene

Range

5001..7186

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002961.3 → NP_002952.1 protein S100-A4

See identical proteins and their annotated locations for NP_002952.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has an alternate 5' UTR, compared to variant 2. Both variants 1 and 2 encode the same isoform.

Source sequence(s)

BX470102

Consensus CDS

CCDS1042.1

UniProtKB/Swiss-Prot

P26447

Related

ENSP00000357705.4, ENST00000368716.9

Conserved Domains (1) summary

cd00213
Location:4 → 90

S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...
NM_019554.3 → NP_062427.1 protein S100-A4

See identical proteins and their annotated locations for NP_062427.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript. Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AV735911, BC000838, BC016300, CB109749

Consensus CDS

CCDS1042.1

UniProtKB/Swiss-Prot

P26447

Related

ENSP00000346294.4, ENST00000354332.8

Conserved Domains (1) summary

cd00213
Location:4 → 90

S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...