U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    Camsap1 calmodulin regulated spectrin-associated protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 227634, updated on 9-Dec-2024

    Summary

    Official Symbol
    Camsap1provided by MGI
    Official Full Name
    calmodulin regulated spectrin-associated protein 1provided by MGI
    Primary source
    MGI:MGI:3036242
    See related
    Ensembl:ENSMUSG00000026933 AllianceGenome:MGI:3036242
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PRO2405; 9530003A05Rik
    Summary
    Predicted to enable calmodulin binding activity; microtubule minus-end binding activity; and spectrin binding activity. Predicted to be involved in several processes, including cytoplasmic microtubule organization; neuron projection development; and regulation of microtubule polymerization or depolymerization. Predicted to be located in microtubule. Predicted to colocalize with microtubule minus-end. Is expressed in several structures, including 1st branchial arch; central nervous system; and lens. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations. Orthologous to human CAMSAP1 (calmodulin regulated spectrin associated protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 21.8), CNS E14 (RPKM 10.4) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Camsap1 in Genome Data Viewer
    Location:
    2 A3; 2 18.29 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (25816850..25873574, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (25926838..25983562, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_03968 Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 1 Neighboring gene potassium channel, subfamily T, member 1 Neighboring gene STARR-positive B cell enhancer ABC_E1002 Neighboring gene STARR-positive B cell enhancer ABC_E3363 Neighboring gene ubiquitin associated domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_03972 Neighboring gene STARR-seq mESC enhancer starr_03973 Neighboring gene nucleus accumbens associated 2, BEN and BTB (POZ) domain containing

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calmodulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables microtubule minus-end binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule minus-end binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables microtubule minus-end binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables spectrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables spectrin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in microtubule cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of microtubule depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of microtubule polymerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with microtubule minus-end IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with microtubule minus-end ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with microtubule minus-end ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    calmodulin-regulated spectrin-associated protein 1

    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_001276359.2NP_001263288.1  calmodulin-regulated spectrin-associated protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL731682
      Consensus CDS
      CCDS50538.2
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      UniProtKB/TrEMBL
      A0A0A0MQE5
      Related
      ENSMUSP00000109804.3, ENSMUST00000114167.9
      Conserved Domains (4) summary
      pfam15346
      Location:12571334
      ARGLU; Arginine and glutamate-rich 1
      pfam08683
      Location:14441562
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:228311
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:859917
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    2. NM_001276360.2NP_001263289.1  calmodulin-regulated spectrin-associated protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is longer compared to isoform 1.
      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      pfam15346
      Location:12681345
      ARGLU; Arginine and glutamate-rich 1
      pfam08683
      Location:14551573
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:239322
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:870928
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    3. NM_001276361.2NP_001263290.1  calmodulin-regulated spectrin-associated protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 3) is longer compared to isoform 1.
      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      pfam15346
      Location:12771354
      ARGLU; Arginine and glutamate-rich 1
      pfam08683
      Location:14641582
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:248331
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:879937
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    4. NM_001372499.2NP_001359428.1  calmodulin-regulated spectrin-associated protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      smart01051
      Location:14551583
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:239322
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:12681345
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:870928
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    5. NM_001408050.1NP_001394979.1  calmodulin-regulated spectrin-associated protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
    6. NM_001408051.1NP_001394980.1  calmodulin-regulated spectrin-associated protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
    7. NM_001408052.1NP_001394981.1  calmodulin-regulated spectrin-associated protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
    8. NM_001408053.1NP_001394982.1  calmodulin-regulated spectrin-associated protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
    9. NM_001408054.1NP_001394983.1  calmodulin-regulated spectrin-associated protein 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL731682
      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3

    RNA

    1. NR_176449.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731682
    2. NR_176450.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731682

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      25816850..25873574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497900.4XP_006497963.1  calmodulin-regulated spectrin-associated protein 1 isoform X5

      See identical proteins and their annotated locations for XP_006497963.1

      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      smart01051
      Location:13441472
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:128211
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:11571234
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:759817
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    2. XM_006497899.3XP_006497962.1  calmodulin-regulated spectrin-associated protein 1 isoform X5

      See identical proteins and their annotated locations for XP_006497962.1

      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      smart01051
      Location:13441472
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:128211
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:11571234
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:759817
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    3. XM_036160731.1XP_036016624.1  calmodulin-regulated spectrin-associated protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      smart01051
      Location:14231551
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:207290
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:12361313
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:838896
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    4. XM_036160733.1XP_036016626.1  calmodulin-regulated spectrin-associated protein 1 isoform X4

      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      pfam11971
      Location:198281
      CAMSAP_CH; CAMSAP CH domain
      pfam08683
      Location:14151533
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam15346
      Location:12271304
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:829887
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001115076.1: Suppressed sequence

      Description
      NM_001115076.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.