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    Camsap3 calmodulin regulated spectrin-associated protein family, member 3 [ Mus musculus (house mouse) ]

    Gene ID: 69697, updated on 2-Apr-2024

    Summary

    Official Symbol
    Camsap3provided by MGI
    Official Full Name
    calmodulin regulated spectrin-associated protein family, member 3provided by MGI
    Primary source
    MGI:MGI:1916947
    See related
    Ensembl:ENSMUSG00000044433 AllianceGenome:MGI:1916947
    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
    Nezha; Kiaa1543; 2310057J16Rik
    Summary
    Enables microtubule minus-end binding activity. Involved in several processes, including establishment of epithelial cell apical/basal polarity; establishment or maintenance of microtubule cytoskeleton polarity; and regulation of microtubule polymerization. Acts upstream of or within in utero embryonic development. Located in axoneme; ciliary basal body; and motile cilium. Colocalizes with microtubule minus-end. Is expressed in brain and lung epithelium. Orthologous to human CAMSAP3 (calmodulin regulated spectrin associated protein family member 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in colon adult (RPKM 25.0), small intestine adult (RPKM 23.5) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    8 A1.1; 8 1.92 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (3637237..3659075)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (3587237..3609075)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2258 Neighboring gene patatin-like phospholipase domain containing 6 Neighboring gene STARR-seq mESC enhancer starr_20589 Neighboring gene STARR-seq mESC enhancer starr_20590 Neighboring gene STARR-seq mESC enhancer starr_20592 Neighboring gene ribosomal protein S23, retrogene 1 Neighboring gene ribosomal protein S23, pseudogene 2 Neighboring gene STARR-seq mESC enhancer starr_20594 Neighboring gene STARR-positive B cell enhancer ABC_E3766 Neighboring gene XPA binding protein 2 Neighboring gene PET100 homolog Neighboring gene Purkinje cell protein 2 (L7)

    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)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule minus-end binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule minus-end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule minus-end binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables spectrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryo development ending in birth or egg hatching IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epithelial cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment of epithelial cell apical/basal polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of epithelial cell apical/basal polarity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment or maintenance of microtubule cytoskeleton polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment or maintenance of microtubule cytoskeleton polarity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule anchoring ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transport along microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of Golgi organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of focal adhesion assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of microtubule polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of microtubule polymerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of organelle organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of organelle organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in zonula adherens maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with microtubule minus-end IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with microtubule minus-end IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule minus-end IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with microtubule minus-end ISO
    Inferred from Sequence Orthology
    more info
     
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in zonula adherens ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    calmodulin-regulated spectrin-associated protein 3
    Names
    marshalin
    protein Nezha

    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_001163749.1NP_001157221.1  calmodulin-regulated spectrin-associated protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001157221.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks two exons and uses an alternate in-frame splice site in the 5' coding region compared to variant 3. The encoded isoform (1) is shorter than isoform 3.
      Source sequence(s)
      AK081728, BC043081, CD349198, CO042496
      Consensus CDS
      CCDS52469.1
      UniProtKB/Swiss-Prot
      Q80VC9
      Related
      ENSMUSP00000125993.2, ENSMUST00000171962.3
      Conserved Domains (3) summary
      pfam08683
      Location:11141232
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:214296
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:588645
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    2. NM_001347111.1NP_001334040.1  calmodulin-regulated spectrin-associated protein 3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC170806, CO042496, KC426931
      Consensus CDS
      CCDS85488.1
      UniProtKB/Swiss-Prot
      Q80VC9
      Related
      ENSMUSP00000146896.2, ENSMUST00000207432.2
    3. NM_001347112.1NP_001334041.1  calmodulin-regulated spectrin-associated protein 3 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region compared to variant 3. The encoded isoform (4) is shorter than isoform 3.
      Source sequence(s)
      AC170806, CO042496, KC426933
      Consensus CDS
      CCDS85490.1
      UniProtKB/Swiss-Prot
      Q80VC9
      Related
      ENSMUSP00000146852.2, ENSMUST00000207077.2
    4. NM_001347113.1NP_001334042.1  calmodulin-regulated spectrin-associated protein 3 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the 5' coding region compared to variant 3. The encoded isoform (5) is shorter than isoform 3.
      Source sequence(s)
      AC170806, CO042496, KC426935
      Consensus CDS
      CCDS85489.1
      UniProtKB/Swiss-Prot
      Q80VC9
      Related
      ENSMUSP00000146772.2, ENSMUST00000207970.2
    5. NM_001363239.1NP_001350168.1  calmodulin-regulated spectrin-associated protein 3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (6) summary
      smart01051
      Location:11401268
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam08580
      Location:398618
      KAR9; Yeast cortical protein KAR9
      pfam11971
      Location:241323
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:615672
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
      cl25548
      Location:899967
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:9221020
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_001363240.1NP_001350169.1  calmodulin-regulated spectrin-associated protein 3 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (6) summary
      smart01051
      Location:11291257
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam08580
      Location:387607
      KAR9; Yeast cortical protein KAR9
      pfam11971
      Location:230312
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:604661
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
      cl25548
      Location:888956
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:9111009
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_001363241.1NP_001350170.1  calmodulin-regulated spectrin-associated protein 3 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (6) summary
      smart01051
      Location:11241252
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam08580
      Location:382602
      KAR9; Yeast cortical protein KAR9
      pfam11971
      Location:225307
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:599656
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
      cl25548
      Location:883951
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:9061004
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001363242.1NP_001350171.1  calmodulin-regulated spectrin-associated protein 3 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (5) summary
      smart01051
      Location:724852
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:241323
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:483551
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:506604
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:355581
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    9. NM_001363243.1NP_001350172.1  calmodulin-regulated spectrin-associated protein 3 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (5) summary
      smart01051
      Location:723851
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:241323
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:482550
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:505603
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:377580
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    10. NM_001363244.1NP_001350173.1  calmodulin-regulated spectrin-associated protein 3 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (5) summary
      smart01051
      Location:713841
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:230312
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:472540
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:495593
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:344570
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    11. NM_001363245.1NP_001350174.1  calmodulin-regulated spectrin-associated protein 3 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Consensus CDS
      CCDS90366.1
      Related
      ENSMUSP00000147209.2, ENSMUST00000207533.2
      Conserved Domains (5) summary
      smart01051
      Location:712840
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:230312
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:471539
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:494592
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:366569
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    12. NM_001363246.1NP_001350175.1  calmodulin-regulated spectrin-associated protein 3 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Consensus CDS
      CCDS90365.1
      Related
      ENSMUSP00000146359.2, ENSMUST00000208240.2
      Conserved Domains (5) summary
      smart01051
      Location:708836
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:225307
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:467535
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:490588
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:339565
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    13. NM_001363247.1NP_001350176.1  calmodulin-regulated spectrin-associated protein 3 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (5) summary
      smart01051
      Location:707835
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:225307
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:466534
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:489587
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:361564
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    14. NM_001363248.1NP_001350177.1  calmodulin-regulated spectrin-associated protein 3 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Consensus CDS
      CCDS90367.1
      Related
      ENSMUSP00000146565.2, ENSMUST00000207712.2
      Conserved Domains (5) summary
      smart01051
      Location:697825
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:214296
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:456524
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:479577
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:328554
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    15. NM_001363249.1NP_001350178.1  calmodulin-regulated spectrin-associated protein 3 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC170806
      Conserved Domains (5) summary
      smart01051
      Location:696824
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:214296
      CAMSAP_CH; CAMSAP CH domain
      cl25548
      Location:455523
      DUF4670; Domain of unknown function (DUF4670)
      cl25732
      Location:478576
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28087
      Location:350553
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    16. NM_027171.3NP_081447.2  calmodulin-regulated spectrin-associated protein 3 isoform 2

      See identical proteins and their annotated locations for NP_081447.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons in the 5' coding region compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
      Source sequence(s)
      AK081728, BC043081, CD349198, CO042496
      Consensus CDS
      CCDS22064.1
      UniProtKB/Swiss-Prot
      E9Q5B0, Q5DTW9, Q80VC9, Q8BUZ0, U5LGR7, U5LGS1, U5LGS5, U5LGT0, U5LHT8, U5LHU4, U5LHW1, U5LHW4, U5LHW9, U5LK15, U5LK19, U5LK24, U5LK70, U5LK74, U5LK79
      Related
      ENSMUSP00000058958.8, ENSMUST00000057028.15
      Conserved Domains (3) summary
      pfam08683
      Location:11131231
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam11971
      Location:214296
      CAMSAP_CH; CAMSAP CH domain
      pfam17095
      Location:587644
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      3637237..3659075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006508880.2XP_006508943.1  calmodulin-regulated spectrin-associated protein 3 isoform X1

      Conserved Domains (5) summary
      PRK02224
      Location:9051003
      PRK02224; DNA double-strand break repair Rad50 ATPase
      pfam11971
      Location:241323
      CAMSAP_CH; CAMSAP CH domain
      pfam02029
      Location:838950
      Caldesmon
      pfam08683
      Location:11241242
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam17095
      Location:598655
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    2. XM_036154273.1XP_036010166.1  calmodulin-regulated spectrin-associated protein 3 isoform X2

      Conserved Domains (5) summary
      PRK02224
      Location:9041002
      PRK02224; DNA double-strand break repair Rad50 ATPase
      pfam11971
      Location:241323
      CAMSAP_CH; CAMSAP CH domain
      pfam08683
      Location:11231241
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam17095
      Location:597654
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
      cl28905
      Location:910948
      PIN_SF; PIN (PilT N terminus) domain: Superfamily
    3. XM_030243752.1XP_030099612.1  calmodulin-regulated spectrin-associated protein 3 isoform X3

      Conserved Domains (5) summary
      PRK02224
      Location:888986
      PRK02224; DNA double-strand break repair Rad50 ATPase
      pfam11971
      Location:225307
      CAMSAP_CH; CAMSAP CH domain
      pfam02029
      Location:821933
      Caldesmon
      pfam08683
      Location:11071225
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam17095
      Location:581638
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin
    4. XM_006508881.2XP_006508944.1  calmodulin-regulated spectrin-associated protein 3 isoform X4

      Conserved Domains (5) summary
      PRK02224
      Location:789887
      PRK02224; DNA double-strand break repair Rad50 ATPase
      pfam11971
      Location:108190
      CAMSAP_CH; CAMSAP CH domain
      pfam02029
      Location:722834
      Caldesmon
      pfam08683
      Location:10081126
      CAMSAP_CKK; Microtubule-binding calmodulin-regulated spectrin-associated
      pfam17095
      Location:482539
      CAMSAP_CC1; Spectrin-binding region of Ca2+-Calmodulin