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; AllianceGenome:HGNC:10494
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
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Genomic context

Location:: 1q21.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153543621..153545806, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152680877..152683062, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153516097..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?

S100A4 Promotes BCG-Induced Pyroptosis of Macrophages by Activating the NF-kappaB/NLRP3 Inflammasome Signaling Pathway.
Title: S100A4 Promotes BCG-Induced Pyroptosis of Macrophages by Activating the NF-κB/NLRP3 Inflammasome Signaling Pathway.
Overexpression of ferroptosis-related genes FSP1 and CISD1 is related to prognosis and tumor immune infiltration in gastric cancer.
Title: Overexpression of ferroptosis-related genes FSP1 and CISD1 is related to prognosis and tumor immune infiltration in gastric cancer.
The clinical and biological characterization of acute myeloid leukemia patients with S100A4 overexpression.
Title: The clinical and biological characterization of acute myeloid leukemia patients with S100A4 overexpression.
Contribution of S100A4-expressing fibroblasts to anti-SSA/Ro-associated atrioventricular nodal calcification and soluble S100A4 as a biomarker of clinical severity.
Title: Contribution of S100A4-expressing fibroblasts to anti-SSA/Ro-associated atrioventricular nodal calcification and soluble S100A4 as a biomarker of clinical severity.
The function of S100A4 in pulmonary disease: A review.
Title: The function of S100A4 in pulmonary disease: A review.
Exosome-transmitted S100A4 induces immunosuppression and non-small cell lung cancer development by activating STAT3.
Title: Exosome-transmitted S100A4 induces immunosuppression and non-small cell lung cancer development by activating STAT3.
Usefulness of serum S100A4 and positron-emission tomography on lung cancer accompanied by interstitial pneumonia.
Title: Usefulness of serum S100A4 and positron-emission tomography on lung cancer accompanied by interstitial pneumonia.
SVCT2-mediated ascorbic acid uptake buffers stress responses via DNA hydroxymethylation reprogramming of S100 calcium-binding protein A4 gene.
Title: SVCT2-mediated ascorbic acid uptake buffers stress responses via DNA hydroxymethylation reprogramming of S100 calcium-binding protein A4 gene.
S100A4 is expressed in human odontoblasts and odontoblast-like cells.
Title: S100A4 is expressed in human odontoblasts and odontoblast-like cells.
In silico Prediction of Deleterious Single Nucleotide Polymorphism in S100A4 Metastatic Gene: Potential Early Diagnostic Marker.
Title: In silico Prediction of Deleterious Single Nucleotide Polymorphism in S100A4 Metastatic Gene: Potential Early Diagnostic Marker.

Submit: New GeneRIF Correction See all GeneRIFs (306)

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RAGE receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RAGE receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables actin binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chemoattractant activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transition metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in epithelial to mesenchymal transition	TAS Traceable Author Statement more info	PubMed
involved_in positive chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in 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

A8K7R8, D3DV46, P26447, Q6ICP8

UniProtKB/TrEMBL

Q5Q9Z3

Related

ENSP00000357705.4, ENST00000368716.9

Conserved Domains (1) summary

cd00213
Location:4 → 90

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 proteins are ...
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

A8K7R8, D3DV46, P26447, Q6ICP8

UniProtKB/TrEMBL

Q5Q9Z3

Related

ENSP00000346294.4, ENST00000354332.8

Conserved Domains (1) summary

cd00213
Location:4 → 90

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 proteins are ...