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    CAPSL calcyphosine like [ Homo sapiens (human) ]

    Gene ID: 133690, updated on 28-Oct-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, Oct 2024]
    Expression
    Biased expression in testis (RPKM 4.0), lung (RPKM 3.4) and 3 other tissues See more
    Orthologs
    mouse all
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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

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