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

    Gene ID: 227634, updated on 3-Apr-2024

    Summary

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    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 brain; cerebral cortex; and hippocampus. Orthologous to human CAMSAP1 (calmodulin regulated spectrin associated protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 21.8), CNS E14 (RPKM 10.4) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The astrocytic lineage marker calmodulin-regulated spectrin-associated protein 1 (Camsap1): phenotypic heterogeneity of newly born Camsap1-expressing cells in injured mouse brain. Yoshioka N, et al. J Comp Neurol, 2012 Apr 15. PMID 22095662
    2. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Khalaf-Nazzal R, et al. Am J Hum Genet, 2022 Nov 3. PMID 36283405, Free PMC Article
    3. CAMSAPs organize an acentrosomal microtubule network from basal varicosities in radial glial cells. Coquand L, et al. J Cell Biol, 2021 Aug 2. PMID 34019079, Free PMC Article
    4. A new monoclonal antibody, A3B10, specific for astrocyte-lineage cells recognizes calmodulin-regulated spectrin-associated protein 1 (Camsap1). Yamamoto M, et al. J Neurosci Res, 2009 Feb. PMID 18756519
    5. Wdr47, Camsaps, and Katanin cooperate to generate ciliary central microtubules. Liu H, et al. Nat Commun, 2021 Oct 4. PMID 34608154, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
      Title: Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
    2. CAMSAPs organize an acentrosomal microtubule network from basal varicosities in radial glial cells.
      Title: CAMSAPs organize an acentrosomal microtubule network from basal varicosities in radial glial cells.
    3. Camsap1-expressing cells exhibit regional heterogeneity in an early phase after stab injury of mouse brain. Newly born reactive astrocytes are derived from heterogeneous Camsap1-expressing cells in the injured brain.
      Title: The astrocytic lineage marker calmodulin-regulated spectrin-associated protein 1 (Camsap1): phenotypic heterogeneity of newly born Camsap1-expressing cells in injured mouse brain.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calmodulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    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 spectrin binding ISO
    Inferred from Sequence Orthology
    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 microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    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 regulation of cell morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of microtubule polymerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule ISO
    Inferred from Sequence Orthology
    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
    		  

    General protein information

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    Preferred Names
    calmodulin-regulated spectrin-associated protein 1

    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_001276359.2 → NP_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:1257 → 1334
      ARGLU; Arginine and glutamate-rich 1
      pfam08683
      Location:1444 → 1562
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:228 → 311
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:859 → 917
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    2. NM_001276360.2 → NP_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:1268 → 1345
      ARGLU; Arginine and glutamate-rich 1
      pfam08683
      Location:1455 → 1573
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:239 → 322
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:870 → 928
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    3. NM_001276361.2 → NP_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:1277 → 1354
      ARGLU; Arginine and glutamate-rich 1
      pfam08683
      Location:1464 → 1582
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:248 → 331
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:879 → 937
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    4. NM_001372499.2 → NP_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:1455 → 1583
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:239 → 322
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:1268 → 1345
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:870 → 928
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    5. NM_001408050.1 → NP_001394979.1  calmodulin-regulated spectrin-associated protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL731682

    6. NM_001408051.1 → NP_001394980.1  calmodulin-regulated spectrin-associated protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL731682

    7. NM_001408052.1 → NP_001394981.1  calmodulin-regulated spectrin-associated protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL731682

    8. NM_001408053.1 → NP_001394982.1  calmodulin-regulated spectrin-associated protein 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL731682

    9. NM_001408054.1 → NP_001394983.1  calmodulin-regulated spectrin-associated protein 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL731682

    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_006497900.4 → XP_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:1344 → 1472
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:128 → 211
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:1157 → 1234
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:759 → 817
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    2. XM_006497899.3 → XP_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:1344 → 1472
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:128 → 211
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:1157 → 1234
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:759 → 817
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    3. XM_036160731.1 → XP_036016624.1  calmodulin-regulated spectrin-associated protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      smart01051
      Location:1423 → 1551
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:207 → 290
      CAMSAP_CH; CAMSAP CH domain
      pfam15346
      Location:1236 → 1313
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:838 → 896
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    4. XM_036160733.1 → XP_036016626.1  calmodulin-regulated spectrin-associated protein 1 isoform X4

      UniProtKB/Swiss-Prot
      A2AHC3, Q7TQF8, Q8CBV3
      Conserved Domains (4) summary
      pfam11971
      Location:198 → 281
      CAMSAP_CH; CAMSAP CH domain
      pfam08683
      Location:1415 → 1533
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam15346
      Location:1227 → 1304
      ARGLU; Arginine and glutamate-rich 1
      pfam17095
      Location:829 → 887
      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.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2AHC3.1 GenPept UniProtKB/Swiss-Prot:A2AHC3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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