S100A6 S100 calcium binding protein A6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100A6provided by HGNC
Official Full Name: S100 calcium binding protein A6provided by HGNC
Primary source: HGNC:HGNC:10496
See related: Ensembl:ENSG00000197956 MIM:114110; AllianceGenome:HGNC:10496
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: 2A9; PRA; 5B10; CABP; CACY; S10A6
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+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]
Expression: Broad expression in colon (RPKM 705.5), lung (RPKM 524.4) and 23 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 (153534599..153535991, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152671855..152673247, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153507075..153508467, 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?

Involvement of S100A6/S100A11 in T-Cell Immune Regulatory in HCC Revealed by Single Cell RNA-seq.
Title: Involvement of S100A6/S100A11 in T-Cell Immune Regulatory in HCC Revealed by Single Cell RNA-seq.
S100A6 Regulates nucleus pulposus cell apoptosis via Wnt/beta-catenin signaling pathway: an in vitro and in vivo study.
Title: S100A6 Regulates nucleus pulposus cell apoptosis via Wnt/β-catenin signaling pathway: an in vitro and in vivo study.
S100A6 drives lymphatic metastasis of liver cancer via activation of the RAGE/NF-kB/VEGF-D pathway.
Title: S100A6 drives lymphatic metastasis of liver cancer via activation of the RAGE/NF-kB/VEGF-D pathway.
Interaction of S100A6 Protein with the Four-Helical Cytokines.
Title: Interaction of S100A6 Protein with the Four-Helical Cytokines.
The S100 calcium-binding protein A6 plays a crucial role in hepatic steatosis by mediating lipophagy.
Title: The S100 calcium-binding protein A6 plays a crucial role in hepatic steatosis by mediating lipophagy.
The Role of S100A6 in Human Diseases: Molecular Mechanisms and Therapeutic Potential.
Title: The Role of S100A6 in Human Diseases: Molecular Mechanisms and Therapeutic Potential.
S100A6 inhibits MDM2 to suppress breast cancer growth and enhance sensitivity to chemotherapy.
Title: S100A6 inhibits MDM2 to suppress breast cancer growth and enhance sensitivity to chemotherapy.
S100A6 participates in initiation of autoimmune encephalitis and is under epigenetic control.
Title: S100A6 participates in initiation of autoimmune encephalitis and is under epigenetic control.
S100A6 promotes the development of thyroid cancer and inhibits apoptosis of thyroid cancer cells through the PI3K/AKT/mTOR pathway.
Title: S100A6 promotes the development of thyroid cancer and inhibits apoptosis of thyroid cancer cells through the PI3K/AKT/mTOR pathway.
S100A6 Protein-Expression and Function in Norm and Pathology.
Title: S100A6 Protein-Expression and Function in Norm and Pathology.

Submit: New GeneRIF Correction See all GeneRIFs (106)

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

STS-Z18949 (e-PCR)
- UniSTS:2447

RH11047 (e-PCR)
- UniSTS:73637

GDB:277192 (e-PCR)
- UniSTS:156367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables calcium-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables tropomyosin binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axonogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fibroblast proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	NAS Non-traceable Author Statement more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
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
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein S100-A6

Names: MLN 4; calcyclin; growth factor-inducible protein 2A9; prolactin receptor-associated protein

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_014624.4 → NP_055439.1 protein S100-A6

See identical proteins and their annotated locations for NP_055439.1

Status: REVIEWED

Source sequence(s)

BC001431, BX470102

Consensus CDS

CCDS1040.1

UniProtKB/Swiss-Prot

D3DV39, P06703, Q5RHS4

UniProtKB/TrEMBL

B2R577

Related

ENSP00000357708.3, ENST00000368719.9

Conserved Domains (1) summary

cd05029
Location:1 → 88

S-100A6; S-100A6 domain found in proteins similar to S100A6. S100A6 is a member of the S100 domain family within EF-hand Ca2+-binding proteins superfamily. Note that the S-100 hierarchy, to which this S-100A6 group belongs, contains only S-100 EF-hand domains, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

153534599..153535991 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002033.2 → XP_016857522.1 protein S100-A6 isoform X1

UniProtKB/Swiss-Prot

D3DV39, P06703, Q5RHS4

UniProtKB/TrEMBL

B2R577

Related

ENSP00000473589.1, ENST00000496817.5

Conserved Domains (1) summary

cd05029
Location:1 → 88

S-100A6; S-100A6 domain found in proteins similar to S100A6. S100A6 is a member of the S100 domain family within EF-hand Ca2+-binding proteins superfamily. Note that the S-100 hierarchy, to which this S-100A6 group belongs, contains only S-100 EF-hand domains, ...