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

Gene ID: 6276, updated on 5-Mar-2024

Summary

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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
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Genomic context

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Location:
1q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (153537147..153543685, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (152674403..152680771, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153509623..153514285, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1744 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8692 Neighboring gene uncharacterized LOC124904423 Neighboring gene Sharpr-MPRA regulatory region 2166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:153508457-153509092 Neighboring gene S100 calcium binding protein A6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:153517191-153517771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:153517772-153518352 Neighboring gene uncharacterized LOC101928034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:153521261-153521822 Neighboring gene S100 calcium binding protein A4 Neighboring gene Sharpr-MPRA regulatory region 14368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:153522386-153522947 Neighboring gene S100 calcium binding protein A3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:153536677-153537434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:153537435-153538192 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:153538345-153539544 Neighboring gene S100 calcium binding protein A2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Restricted expression of calcium-binding protein S100A5 in human kidney. Teratani T, et al. Biochem Biophys Res Commun, 2002 Mar 1. PMID 11855835
  2. Development and progression of malignancy in human colon tissues are correlated with expression of specific Ca(2+)-binding S100 proteins. Bronckart Y, et al. Histol Histopathol, 2001 Jul. PMID 11510959
  3. Were Ancestral Proteins Less Specific? Wheeler LC, et al. Mol Biol Evol, 2021 May 19. PMID 33528559, Free PMC Article
  4. Conservation of Specificity in Two Low-Specificity Proteins. Wheeler LC, et al. Biochemistry, 2018 Feb 6. PMID 29240404, Free PMC Article
  5. Biophysical characterization of Ca(2+)-binding of S100A5 and Ca(2+)-induced interaction with RAGE. Kim I, et al. Biochem Biophys Res Commun, 2017 Jan 29. PMID 28017722

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Were Ancestral Proteins Less Specific?
    Title: Were Ancestral Proteins Less Specific?
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
  7. 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.
Submit: New GeneRIF Correction

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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    153537147..153543685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. 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 ...

  3. 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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    152674403..152680771 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338110.1 → XP_054194085.1  protein S100-A5 isoform X1

  2. XM_054338111.1 → XP_054194086.1  protein S100-A5 isoform X2

    UniProtKB/Swiss-Prot
    P33763, Q52LE7, Q5RHS3

  3. XM_054338112.1 → XP_054194087.1  protein S100-A5 isoform X2

    UniProtKB/Swiss-Prot
    P33763, Q52LE7, Q5RHS3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P33763.2 GenPept UniProtKB/Swiss-Prot:P33763

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