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

Gene ID: 170591, updated on 14-Nov-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
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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: 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?
  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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