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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