casq1.S calsequestrin 1 S homeolog [Xenopus laevis (African clawed frog)] - Gene

Summary

Official Symbol: casq1.S
Official Full Name: calsequestrin 1 S homeolog
Primary source: Xenbase:XB-GENE-5753780
Locus tag: XELAEV_18042817mg
See related: EnsemblRapid:ENSXLAG00005024326 AllianceGenome:Xenbase:XB-GENE-5753780
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Xenopus laevis
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia; Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Xenopus
Also known as: asph; casq; casq1; pdib1; casq1.L
Summary: Predicted to enable calcium ion binding activity. Predicted to act upstream of or within regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion. Predicted to be located in Z disc; mitochondrial matrix; and sarcoplasmic reticulum. Is expressed in musculoskeletal system. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human CASQ1 (calsequestrin 1). [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: chromosome: 8S

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
101	current	Xenopus_laevis_v10.1 (GCF_017654675.1)	8S	NC_054386.1 (99854019..99909869)
100	previous assembly	Xenopus_laevis_v2 (GCF_001663975.1)	8S	NC_030739.1 (94827710..94883949)

Chromosome 8S - NC_054386.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by Xenbase

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calsequestrin 1 S homeolog

Names: Aspartyl beta-hydroxylase; calsequestrin 1 (fast-twitch, skeletal muscle); calsequestrin 1 L homeolog; calsequestrin-1

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_001086758.1 → NP_001080227.1 calsequestrin 1 S homeolog precursor

See identical proteins and their annotated locations for NP_001080227.1

Status: PROVISIONAL

Source sequence(s)

BC046947

UniProtKB/TrEMBL

A0A974C4N5, Q7ZWM0

Related

ENSXLAP00005072200.1, ENSXLAT00005073747.1

Conserved Domains (4) summary

cd03065
Location:27 → 146

PDI_b_Calsequestrin_N; PDIb family, Calsequestrin subfamily, N-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03066
Location:148 → 249

PDI_b_Calsequestrin_middle; PDIb family, Calsequestrin subfamily, Middle TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03074
Location:250 → 369

PDI_b'_Calsequestrin_C; Protein Disulfide Isomerase (PDIb') family, Calsequestrin subfamily, C-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient ...

pfam01216
Location:25 → 374

Calsequestrin; Calsequestrin