CAPS calcyphosine [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAPSprovided by HGNC
Official Full Name: calcyphosineprovided by HGNC
Primary source: HGNC:HGNC:1487
See related: Ensembl:ENSG00000105519 MIM:114212; AllianceGenome:HGNC:1487
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: CAPS1
Summary: This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lung (RPKM 22.4), endometrium (RPKM 13.8) and 21 other tissues See more
Orthologs: all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (5914254..5916211)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (5901694..5903651)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (5914265..5916222)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Calcyphosine promotes the proliferation of glioma cells and serves as a potential therapeutic target.
Title: Calcyphosine promotes the proliferation of glioma cells and serves as a potential therapeutic target.
The results indicated that the autosomal recessive homozygous mutation, p.Leu127Trpfs, in CAPS might be a maternal effect causative mutation of RPL pathogenesis.
Title: CAPS Mutations Are Potentially Associated with Unexplained Recurrent Pregnancy Loss.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study of 182 candidate genes in anorexia nervosa.
The calcyphosine crystal diffracted to 2.8 A and belonged to space group P2(1)2(1)2, with the unit cell parameters a=70.39 A, b=132.02 A, c=46.20 A.
Title: Crystallization and preliminary crystallographic analysis of recombinant human calcyphosine.
These results describe the crystal structure of Ca(2+)-loaded calcyphosine up to 2.65 A resolution and reveal a protein containing two pairs of Ca(2+)-binding EF-hand motifs.
Title: Crystal-structure and biochemical characterization of recombinant human calcyphosine delineates a novel EF-hand-containing protein family.
Results demonstrated the ubiquitous overexpressions of E-FABP and CAPS in EC and the correlations to the clinicopathologic parameters. CAPS might be a potential prognostic factor for survival in patients with EC
Title: Prognostic evaluation of epidermal fatty acid-binding protein and calcyphosine, two proteins implicated in endometrial cancer using a proteomic approach.

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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

GDB:434012 (e-PCR)
- UniSTS:157204

D11S2560 (e-PCR)
- UniSTS:37928

D5S2354 (e-PCR)
- UniSTS:473392

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

G38154 (e-PCR)
- UniSTS:53341

NoName (e-PCR)
- UniSTS:483678

D22S1584 (e-PCR)
- UniSTS:473695

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-67307 (e-PCR)
- UniSTS:89991

D11S3114 (e-PCR)
- UniSTS:152207

L17971 (e-PCR)
- UniSTS:43966

RH78172 (e-PCR)
- UniSTS:32995

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: calcyphosin

Names: calcyphosine 1; epididymis secretory sperm binding protein; thyroid protein p24

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_004058.5 → NP_004049.3 calcyphosin isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK226026, AW510425, BC011961, BU689238

Consensus CDS

CCDS12156.3

UniProtKB/TrEMBL

A0A384NYV7, Q96ET4

Related

ENSP00000465883.2, ENST00000588776.8

Conserved Domains (3) summary

cd00051
Location:26 → 87

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 ...

cd15898
Location:26 → 54

EFh_PI-PLC; EF-hand motif [structural motif]

cl28895
Location:26 → 165

EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes
NM_080590.4 → NP_542157.3 calcyphosin isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform b, which is shorter than isoform a.

Source sequence(s)

AW510425, BC019065, BU689238

Consensus CDS

CCDS45934.3

UniProtKB/TrEMBL

A0A499FJ41, K7ES72

Related

ENSP00000403263.3, ENST00000452990.8

Conserved Domains (2) summary

cd00051
Location:26 → 87

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 ...

cl25352
Location:23 → 158

EFh_PEF; The penta-EF hand (PEF) family