S100A5 S100 calcium binding protein A5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100A5provided by HGNC
Official Full Name: S100 calcium binding protein A5provided by HGNC
Primary source: HGNC:HGNC:10495
See related: Ensembl:ENSG00000196420 MIM:176991; AllianceGenome:HGNC:10495
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: S100D
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 has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153537147..153543685, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152674403..152680771, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153509623..153514285, 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?

Were Ancestral Proteins Less Specific?
Title: Were Ancestral Proteins Less Specific?
Isothermal titration calorimetry measured the binding of peptides with diverse sequence and biochemistry to human S100A5 and S110A6. These proteins bound distinct, but overlapping, sets of peptide targets. A single historical mutation, when reverted in human S100A5, gave it the ability to bind an S100A6-specific peptide. The specificity of S100 peptide interfaces is likely important for the biology of these proteins.
Title: Conservation of Specificity in Two Low-Specificity Proteins.
These results indicated that pentamidine blocks the binding between S100A5 and RAGE V domain. This finding is useful for the development of new anti-proliferation drugs.
Title: Pentamidine blocks the interaction between mutant S100A5 and RAGE V domain and inhibits the RAGE signaling pathway.
S100A5 employs the periphery of the dimer interface to interact with RAGE-v
Title: Biophysical characterization of Ca(2+)-binding of S100A5 and Ca(2+)-induced interaction with RAGE.
Homodimeric solution structures of S100A5 in both apo & Ca(II)-loaded forms were obtained & show conformational rearrangement on Ca binding. Also, large mobility was observed in hinge loop of apo-S100A5; this mobility was not quenched in Ca form.
Title: Solution structure and dynamics of S100A5 in the apo and Ca2+-bound states.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
Strongly expressed at 12 weeks gestation in the cells and fibers of the hippocampus, and then decreased with age. In the temporal cortex, detected from 12 weeks onwards, peaked at 20 to 24 weeks, and then decreased with age.
Title: Differential expression of S100 proteins in the developing human hippocampus and temporal cortex.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

NoName (e-PCR)
- UniSTS:483366

RH70249 (e-PCR)
- UniSTS:31545

GDB:230308 (e-PCR)
- UniSTS:156272

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein S100-A5

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_001394232.1 → NP_001381161.1 protein S100-A5

Status: REVIEWED

Source sequence(s)

BX470102

Consensus CDS

CCDS1041.2

UniProtKB/Swiss-Prot

P33763, Q52LE7, Q5RHS3

Related

ENSP00000357706.2, ENST00000368717.3

Conserved Domains (1) summary

cd00213
Location:3 → 87

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_001394233.1 → NP_001381162.1 protein S100-A5

Status: REVIEWED

Source sequence(s)

BX470102

Consensus CDS

CCDS1041.2

UniProtKB/Swiss-Prot

P33763, Q52LE7, Q5RHS3

Conserved Domains (1) summary

cd00213
Location:3 → 87

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_001394234.1 → NP_001381163.1 protein S100-A5

Status: REVIEWED

Source sequence(s)

BX470102

Consensus CDS

CCDS1041.2

UniProtKB/Swiss-Prot

P33763, Q52LE7, Q5RHS3

Conserved Domains (1) summary

cd00213
Location:3 → 87

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_002962.2 → NP_002953.2 protein S100-A5

See identical proteins and their annotated locations for NP_002953.2

Status: REVIEWED

Source sequence(s)

BX470102, Z18954

Consensus CDS

CCDS1041.2

UniProtKB/Swiss-Prot

P33763, Q52LE7, Q5RHS3

Related

ENSP00000357707.1, ENST00000368718.5

Conserved Domains (1) summary

cd00213
Location:3 → 87

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 ...

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

153537147..153543685 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002029.2 → XP_016857518.1 protein S100-A5 isoform X1
XM_017002032.2 → XP_016857521.1 protein S100-A5 isoform X2

UniProtKB/Swiss-Prot

P33763, Q52LE7, Q5RHS3

Conserved Domains (1) summary

cd00213
Location:3 → 87

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 ...
XM_017002031.2 → XP_016857520.1 protein S100-A5 isoform X2

UniProtKB/Swiss-Prot

P33763, Q52LE7, Q5RHS3

Conserved Domains (1) summary

cd00213
Location:3 → 87

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 ...