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

Gene ID: 6276, updated on 8-Dec-2018

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
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

Genomic context

See S100A5 in Genome Data Viewer
Location:
1q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (153537114..153543514, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153509623..153515772, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 44, pseudogene Neighboring gene S100 calcium binding protein A6 Neighboring gene uncharacterized LOC101928034 Neighboring gene S100 calcium binding protein A4 Neighboring gene S100 calcium binding protein A3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_002962.1NP_002953.2  protein S100-A5

    See identical proteins and their annotated locations for NP_002953.2

    Status: REVIEWED

    Source sequence(s)
    Z18954
    Consensus CDS
    CCDS1041.2
    UniProtKB/Swiss-Prot
    P33763
    Related
    ENSP00000357707.1, ENST00000368718.5
    Conserved Domains (1) summary
    cd00213
    Location:387
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    153537114..153543514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017002030.1XP_016857519.1  protein S100-A5 isoform X2

    UniProtKB/Swiss-Prot
    P33763
    Conserved Domains (1) summary
    cd00213
    Location:21105
    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 ...
  3. XM_017002032.1XP_016857521.1  protein S100-A5 isoform X4

    UniProtKB/Swiss-Prot
    P33763
    Related
    ENSP00000357706.2, ENST00000368717.2
    Conserved Domains (1) summary
    cd00213
    Location:387
    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 ...
  4. XM_017002031.1XP_016857520.1  protein S100-A5 isoform X4

    UniProtKB/Swiss-Prot
    P33763
    Conserved Domains (1) summary
    cd00213
    Location:387
    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 ...
  5. XM_011509860.2XP_011508162.1  protein S100-A5 isoform X3

    See identical proteins and their annotated locations for XP_011508162.1

    Conserved Domains (1) summary
    cd00213
    Location:1599
    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 ...
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