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	current	GRCh38.p12 (GCF_000001405.38)	1	NC_000001.11 (153543619..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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

this study demonstrates that metastasized cells are less migratory due in part to the post-metastatic downregulation of S100A4 and GRM3. Targeting S100A4 and GRM3 may help prevent bone metastasis.
Title: Reduction in Migratory Phenotype in a Metastasized Breast Cancer Cell Line via Downregulation of S100A4 and GRM3.
ERRgamma may exert oncogenic activity mainly associated with aggressiveness of EC by activating S100A4 transcription.
Title: Estrogen‑related receptor γ promotes the migration and metastasis of endometrial cancer cells by targeting S100A4.
S100A4 expression is induced by the TGF-beta pathway,.
Title: S100A4 amplifies TGF-β-induced epithelial-mesenchymal transition in a pleural mesothelial cell line.
This meta-analysis showed that overexpression of S100A4 seems to be associated with tumor progression and poor prognosis of PC patients.
Title: Overexpression of S100A4 protein may be associated with the development and progression of pancreatic cancer.
clusterin promotes growth and invasion in renal cell carcinoma cells in vitro and in vivo through upregulation of S100A4
Title: Clusterin promotes growth and invasion of clear cell renal carcinoma cell by upregulation of S100A4 expression.
miR-3189-3p mimics enhanced the effects of the S100A4 siRNA on the inhibition of gastric cancer cell proliferation and migration by targeting CFL2.
Title: miR-3189-3p Mimics Enhance the Effects of S100A4 siRNA on the Inhibition of Proliferation and Migration of Gastric Cancer Cells by Targeting CFL2.
Urine S100A4 shows the most promise as an lupus nephritis (LN) activity biomarker.
Title: Urine S100 proteins as potential biomarkers of lupus nephritis activity.
S100A4 is up-regulated in cervical adenocarcinomas and squamous cell carcinomas.
Title: Inversed Expression Patterns of S100A4 and E-Cadherin in Cervical Cancers: Implication in Epithelial-Mesenchymal Transition.
Network analysis of overlapping genes revealed the effects on tubulins (Tubb2a, Tubb3, Tubb4b), Nfe2l2, S100a4, Cd44, and Nfkb2, all of which are linked to TBI-relevant outcomes, including epileptogenesis and tissue repair
Title: Analysis of Post-Traumatic Brain Injury Gene Expression Signature Reveals Tubulins, Nfe2l2, Nfkb, Cd44, and S100a4 as Treatment Targets.
Authors first provide experimental evidence suggesting that FAM107B was downregulated by S100A4 in gastric cancer MGC803 cells. And FAM107B at least partially mediates the biological effect of S100A4 in the cells.
Title: FAM107B is regulated by S100A4 and mediates the effect of S100A4 on the proliferation and migration of MGC803 gastric cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (248)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 104 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

Go to the top of the page Help

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)

Go to the top of the page Help

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..7188

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 ...