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CAPSL calcyphosine like [ Homo sapiens (human) ]

Gene ID: 133690, updated on 2-Nov-2024

Summary

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Official Symbol
CAPSLprovided by HGNC
Official Full Name
calcyphosine likeprovided by HGNC
Primary source
HGNC:HGNC:28375
See related
Ensembl:ENSG00000152611 MIM:618799; AllianceGenome:HGNC:28375
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
Summary
Predicted to enable calcium ion binding activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 4.0), lung (RPKM 3.4) and 3 other tissues See more
Orthologs
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Genomic context

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See CAPSL in Genome Data Viewer
Location:
5p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (35904288..35938779, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (36152562..36187050, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (35904390..35938881, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene sperm flagellar 2 Neighboring gene uncharacterized LOC105374724 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:35788726-35789925 Neighboring gene NANOG hESC enhancer GRCh37_chr5:35860795-35861296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22471 Neighboring gene interleukin 7 receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22472 Neighboring gene Sharpr-MPRA regulatory region 7574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22474 Neighboring gene CAPSL divergent transcript Neighboring gene UDP glycosyltransferase family 3 member A1

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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Related articles in PubMed

  1. Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Lindner A, et al. Sci Rep, 2019 Jun 11. PMID 31186450, Free PMC Article
  2. Study of the association between the CAPSL-IL7R locus and type 1 diabetes. Santiago JL, et al. Diabetologia, 2008 Sep. PMID 18563381
  3. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Todd JA, et al. Nat Genet, 2007 Jul. PMID 17554260, Free PMC Article
  4. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article
  5. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.
    Title: Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Study of the association between the CAPSL-IL7R locus and type 1 diabetes.
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

EBI GWAS Catalog

Description
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC26610

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
calcyphosin-like protein

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_001042625.2 → NP_001036090.1  calcyphosin-like protein

    See identical proteins and their annotated locations for NP_001036090.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC112204, BM975803, CD687387, W25222
    Consensus CDS
    CCDS3912.2
    UniProtKB/Swiss-Prot
    Q8WWF8
    UniProtKB/TrEMBL
    D6RF97
    Related
    ENSP00000498465.1, ENST00000651391.1
    Conserved Domains (3) summary
    cd00051
    Location:46 → 101
    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 ...
    pfam13499
    Location:83 → 140
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:116 → 182
    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. NM_144647.4 → NP_653248.3  calcyphosin-like protein

    See identical proteins and their annotated locations for NP_653248.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC112204, BC017586, BM975803, CD687387
    Consensus CDS
    CCDS3912.2
    UniProtKB/Swiss-Prot
    Q8WWF8
    UniProtKB/TrEMBL
    D6RF97
    Related
    ENSP00000380524.2, ENST00000397367.6
    Conserved Domains (3) summary
    cd00051
    Location:46 → 101
    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 ...
    pfam13499
    Location:83 → 140
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:116 → 182
    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
    35904288..35938779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714444.4 → XP_006714507.1  calcyphosin-like protein isoform X1

    UniProtKB/TrEMBL
    D6RF97
    Conserved Domains (3) summary
    cd00051
    Location:63 → 118
    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 ...
    pfam13499
    Location:100 → 157
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:133 → 199
    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_006714445.4 → XP_006714508.1  calcyphosin-like protein isoform X2

    UniProtKB/TrEMBL
    D6RHD7
    Conserved Domains (2) summary
    cd00051
    Location:63 → 118
    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 ...
    pfam13499
    Location:100 → 157
    EF-hand_7; EF-hand domain pair

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    36152562..36187050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351604.1 → XP_054207579.1  calcyphosin-like protein isoform X1

  2. XM_054351605.1 → XP_054207580.1  calcyphosin-like protein isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WWF8.4 GenPept UniProtKB/Swiss-Prot:Q8WWF8

Gene LinkOut

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