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    CLSTN1 calsyntenin 1 [ Homo sapiens (human) ]

    Gene ID: 22883, updated on 4-Jul-2021

    Summary

    Official Symbol
    CLSTN1provided by HGNC
    Official Full Name
    calsyntenin 1provided by HGNC
    Primary source
    HGNC:HGNC:17447
    See related
    Ensembl:ENSG00000171603 MIM:611321
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CST-1; CSTN1; CDHR12; PIK3CD; ALC-ALPHA; XB31alpha; alcalpha1; alcalpha2
    Summary
    This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
    Expression
    Ubiquitous expression in brain (RPKM 135.7), skin (RPKM 44.9) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CLSTN1 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (9728926..9824526, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9788984..9884584, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Neighboring gene PIK3CD antisense RNA 2 Neighboring gene ribosomal protein L26 pseudogene 7 Neighboring gene mitotic spindle organizing protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105376717 Neighboring gene catenin beta interacting protein 1 Neighboring gene leucine zipper and CTNNBIP1 domain containing Neighboring gene nicotinamide nucleotide adenylyltransferase 1

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ32258, KIAA0911

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables X11-like protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables amyloid-beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotransmitter receptor transport to postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synapse maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of spine apparatus membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic endosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    calsyntenin-1
    Names
    alcadein-alpha
    alzheimer-related cadherin-like protein
    cadherin-related family member 12
    non-classical cadherin XB31alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001009566.3NP_001009566.1  calsyntenin-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001009566.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL357140, AL691449
      Consensus CDS
      CCDS30580.1
      UniProtKB/Swiss-Prot
      O94985
      Related
      ENSP00000366513.4, ENST00000377298.9
      Conserved Domains (2) summary
      cd11304
      Location:168258
      Cadherin_repeat; Cadherin tandem repeat domain
      cl22861
      Location:365477
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    2. NM_001302883.1NP_001289812.1  calsyntenin-1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001289812.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter isoform (3) that is missing an internal segment compared to isoform 1.
      Source sequence(s)
      AB020718, AL357140, BI335759
      UniProtKB/Swiss-Prot
      O94985
      UniProtKB/TrEMBL
      B4E3Q1
      Related
      ENSP00000401934.1, ENST00000435891.5
      Conserved Domains (2) summary
      cd11304
      Location:168258
      Cadherin_repeat; Cadherin tandem repeat domain
      cl22861
      Location:365525
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    3. NM_014944.4NP_055759.3  calsyntenin-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_055759.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (2) that is missing an internal segment compared to isoform 1.
      Source sequence(s)
      AB020718, AL357140, BI335759
      Consensus CDS
      CCDS105.1
      UniProtKB/Swiss-Prot
      O94985
      Related
      ENSP00000354997.4, ENST00000361311.4
      Conserved Domains (2) summary
      cd11304
      Location:41149
      Cadherin_repeat; Cadherin tandem repeat domain
      cl22861
      Location:355467
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      9728926..9824526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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