S100G S100 calcium binding protein G [Homo sapiens (human)] - Gene

Summary

Official Symbol: S100Gprovided by HGNC
Official Full Name: S100 calcium binding protein Gprovided by HGNC
Primary source: HGNC:HGNC:1436
See related: Ensembl:ENSG00000169906 MIM:302020; AllianceGenome:HGNC:1436
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: CABP; CABP1; CALB3; CABP9K
Summary: This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward duodenum (RPKM 36.4) See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (16650158..16654670)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (16232624..16237136)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (16668281..16672793)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Addition of short-chain fatty acids to cultured Caco-2 cells results in elevation of calbindin-D9k mRNA.
Title: Short-chain fatty acids increase the level of calbindin-D9k messenger RNA in Caco-2 cells.
cultured syncytiotrophoblast cells express calbindin-D9k and calbindin-D28k genes, which are stimulated by calcitriol
Title: Effects of calcitriol on calbindins gene expression and lipid peroxidation in human placenta.
Parathyroid hormone may inhibit or counteract the increase in CaBP-D9k mRNA caused by 1,25-(OH)2-D3 in Caco-2 cells.
Title: [Effect of parathyroid hormone and 1,25-(OH)2-D3 on the expression of the mRNA of calbindin D9k in Caco-2 cells].
Cdx-2 is a permissive factor that influences basal CaBP expression in enterocytes and that HNF-1alpha modulates CaBP gene expression during cellular differentiation.
Title: Control of differentiation-induced calbindin-D9k gene expression in Caco-2 cells by cdx-2 and HNF-1alpha.

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Phenotypes

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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

GDB:594585 (e-PCR)
- UniSTS:157999

GDB:604580 (e-PCR)
- UniSTS:98889

NoName (e-PCR)
- UniSTS:483420

RH1707 (e-PCR)
- UniSTS:5495

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
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 transition metal ion binding	IEA Inferred from Electronic Annotation more info
enables vitamin D binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein S100-G

Names: calbindin 3, (vitamin D-dependent calcium-binding protein); calbindin D9K; calbindin-D9k; vitamin D-dependent calcium-binding protein, intestinal

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_004057.3 → NP_004048.1 protein S100-G

See identical proteins and their annotated locations for NP_004048.1

Status: REVIEWED

Source sequence(s)

AL445467, L13220

Consensus CDS

CCDS14176.1

UniProtKB/Swiss-Prot

P29377, Q5JS49

Related

ENSP00000369547.3, ENST00000380200.3

Conserved Domains (1) summary

cd00213
Location:12 → 79

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_000023.11 Reference GRCh38.p14 Primary Assembly

Range

16650158..16654670

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029841.2 → XP_016885330.1 protein S100-G isoform X1

UniProtKB/Swiss-Prot

P29377, Q5JS49

Conserved Domains (1) summary

cd00213
Location:12 → 79

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 ...