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CAPSL calcyphosine like [ Homo sapiens (human) ]

Gene ID: 133690, updated on 5-Jan-2022

Summary

Official Symbol
CAPSLprovided by HGNC
Official Full Name
calcyphosine likeprovided by HGNC
Primary source
HGNC:HGNC:28375
See related
Ensembl:ENSG00000152611 MIM:618799
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 2021]
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

See CAPSL in Genome Data Viewer
Location:
5p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (35904288..35938779, complement)
105.20201022 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 RNA, U7 small nuclear 130 pseudogene Neighboring gene sperm flagellar 2 Neighboring gene uncharacterized LOC105374724 Neighboring gene interleukin 7 receptor Neighboring gene Sharpr-MPRA regulatory region 7574 Neighboring gene uncharacterized LOC100506406 Neighboring gene UDP glycosyltransferase family 3 member A1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

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_001042625.2NP_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
    Related
    ENSP00000498465.1, ENST00000651391.1
    Conserved Domains (3) summary
    cd00051
    Location:46101
    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:83140
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:116182
    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_144647.4NP_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
    Related
    ENSP00000380524.2, ENST00000397367.6
    Conserved Domains (3) summary
    cd00051
    Location:46101
    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:83140
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:116182
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    35904288..35938779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714444.3XP_006714507.1  calcyphosin-like protein isoform X1

    Conserved Domains (3) summary
    cd00051
    Location:63118
    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:100157
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:133199
    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_006714445.3XP_006714508.1  calcyphosin-like protein isoform X2

    Related
    ENSP00000421018.1, ENST00000514524.2
    Conserved Domains (2) summary
    cd00051
    Location:63118
    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:100157
    EF-hand_7; EF-hand domain pair
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