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    S100Z S100 calcium binding protein Z [ Homo sapiens (human) ]

    Gene ID: 170591, updated on 10-Dec-2024

    Summary

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    Official Symbol
    S100Zprovided by HGNC
    Official Full Name
    S100 calcium binding protein Zprovided by HGNC
    Primary source
    HGNC:HGNC:30367
    See related
    Ensembl:ENSG00000171643 MIM:610103; AllianceGenome:HGNC:30367
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Gm625; S100-zeta
    Summary
    Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See S100Z in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (76850014..76952953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (77331819..77434785)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (76145839..76217475)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:76114571-76115188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76115189-76115806 Neighboring gene F2R like trypsin receptor 1 Neighboring gene RNA, 7SL, cytoplasmic 208, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22698 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:76166173-76166870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76184471-76184971 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:76221500-76221673 Neighboring gene RNA, U6atac small nuclear 36, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76249596-76250282 Neighboring gene corticotropin releasing hormone binding protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:76325887-76326466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:76326467-76327046 Neighboring gene angiogenic factor with G-patch and FHA domains 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Reviewing the Crystal Structure of S100Z and Other Members of the S100 Family: Implications in Calcium-Regulated Quaternary Structure. Calderone V, et al. Methods Mol Biol, 2019. PMID 30710292
    2. Molecular characterization and tissue distribution of a novel member of the S100 family of EF-hand proteins. Gribenko AV, et al. Biochemistry, 2001 Dec 25. PMID 11747429
    3. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. Festen EA, et al. Am J Gastroenterol, 2010 Feb. PMID 19861958
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Apo-S100Z has been compared to the structure of zebrafish calcium-S100Z with which it shares 70% sequence identity. It shows that the surface of interaction between the monomers in the dimers decreases; likewise, the surface among the dimers is lower, with the consequent absence of superhelical arrangement in the crystals. Also, calcium binding plays a fundamental role in triggering quaternary structure formation.
      Title: Reviewing the Crystal Structure of S100Z and Other Members of the S100 Family: Implications in Calcium-Regulated Quaternary Structure.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk.
    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

    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein S100-Z
    Names
    S100 calcium binding protein, zeta

    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_130772.4 → NP_570128.2  protein S100-Z

      See identical proteins and their annotated locations for NP_570128.2

      Status: VALIDATED

      Source sequence(s)
      AC027342, AF437876, BC022320, BX281742, CD368348
      Consensus CDS
      CCDS43333.1
      UniProtKB/Swiss-Prot
      Q8WXG8
      Related
      ENSP00000320430.4, ENST00000317593.9
      Conserved Domains (1) summary
      cl08302
      Location:1 → 93
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      76850014..76952953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543241.3 → XP_011541543.1  protein S100-Z isoform X1

      See identical proteins and their annotated locations for XP_011541543.1

      UniProtKB/Swiss-Prot
      Q8WXG8
      Conserved Domains (1) summary
      cl08302
      Location:1 → 93
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. XM_011543240.4 → XP_011541542.1  protein S100-Z isoform X1

      See identical proteins and their annotated locations for XP_011541542.1

      UniProtKB/Swiss-Prot
      Q8WXG8
      Conserved Domains (1) summary
      cl08302
      Location:1 → 93
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    3. XM_011543244.3 → XP_011541546.1  protein S100-Z isoform X1

      See identical proteins and their annotated locations for XP_011541546.1

      UniProtKB/Swiss-Prot
      Q8WXG8
      Conserved Domains (1) summary
      cl08302
      Location:1 → 93
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    4. XM_047416869.1 → XP_047272825.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8
      Related
      ENSP00000426768.1, ENST00000513010.5

    5. XM_017009171.2 → XP_016864660.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8
      Conserved Domains (1) summary
      cl08302
      Location:1 → 93
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    6. XM_011543245.3 → XP_011541547.1  protein S100-Z isoform X1

      See identical proteins and their annotated locations for XP_011541547.1

      UniProtKB/Swiss-Prot
      Q8WXG8
      Conserved Domains (1) summary
      cl08302
      Location:1 → 93
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    7. XM_047416873.1 → XP_047272829.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    8. XM_047416872.1 → XP_047272828.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    9. XM_047416871.1 → XP_047272827.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8
      Related
      ENSP00000483535.1, ENST00000613039.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      77331819..77434785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351921.1 → XP_054207896.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    2. XM_054351922.1 → XP_054207897.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    3. XM_054351918.1 → XP_054207893.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    4. XM_054351923.1 → XP_054207898.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    5. XM_054351920.1 → XP_054207895.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    6. XM_054351919.1 → XP_054207894.1  protein S100-Z isoform X1

      UniProtKB/Swiss-Prot
      Q8WXG8

    RNA

    1. XR_008487091.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXG8.4 GenPept UniProtKB/Swiss-Prot:Q8WXG8

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