• Gene id: 57662

Gene Summary

• Gene Symbol: CAMSAP3   Gene   UCSC   Ensembl
• Aliases: KIAA1543, NEZHA, PPP1R80
• Gene name: calmodulin regulated spectrin associated protein family member 3
• Alternate names: calmodulin-regulated spectrin-associated protein 3, protein phosphatase 1, regulatory subunit 80,
• Gene location: 19p13.2 (7595862: 7618303)     Exons: 19     NC_000019.10

Protein Summary

• Protein general information: Q9P1Y5  
  • Name: Calmodulin regulated spectrin associated protein 3 (Protein Nezha)
  • Length: 1249  
  • Mass: 134750
• Sequence:

  MVEAAPPGPGPLRRTFLVPEIKSLDQYDFSRAKAAASLAWVLRAAFGGAEHVPPELWEPFYTDQYAQEHVKPPVT
  RLLLSAELYCRAWRQALPQLETPPNPSALLALLARRGTVPALPERPVREADLRHQPILMGAHLAVIDALMAAFAF
  EWTKTLPGPLALTSLEHKLLFWVDTTVRRLQEKTEQEAAQRASPAAPADGAAPAQPSIRYRKDRVVARRAPCFPT
  VTSLQDLASGAALAATIHCYCPQLLRLEEVCLKDPMSVADSLYNLQLVQDFCASRLPRGCPLSLEDLLYVPPPLK
  VNLVVMLAELFMCFEVLKPDFVQVKDLPDGHAASPRGTEASPPQNNSGSSSPVFTFRHPLLSSGGPQSPLRGSTG
  SLKSSPSMSHMEALGKAWNRQLSRPLSQAVSFSTPFGLDSDVDVVMGDPVLLRSVSSDSLGPPRPAPARTPTQPP
  PEPGDLPTIEEALQIIHSAEPRLLPDGAADGSFYLHSPEGPSKPSLASPYLPEGTSKPLSDRPTKAPVYMPHPET
  PSKPSPCLVGEASKPPAPSEGSPKAVASSPAATNSEVKMTSFAERKKQLVKAEAEAGAGSPTSTPAPPEALSSEM
  SELSARLEEKRRAIEAQKRRIEAIFAKHRQRLGKSAFLQVQPREASGEAEAEAEEADSGPVPGGERPAGEGQGEP
  TSRPKAVTFSPDLGPVPHEGLGEYNRAVSKLSAALSSLQRDMQRLTDQQQRLLAPPEAPGSAPPPAAWVIPGPTT
  GPKAASPSPARRVPATRRSPGPGPSQSPRSPKHTRPAELRLAPLTRVLTPPHDVDSLPHLRKFSPSQVPVQTRSS
  ILLAEETPPEEPAARPGLIEIPLGSLADPAAEDEGDGSPAGAEDSLEEEASSEGEPRVGLGFFYKDEDKPEDEMA
  QKRASLLERQQRRAEEARRRKQWQEVEKEQRREEAARLAQEEAPGPAPLVSAVPMATPAPAARAPAEEEVGPRKG
  DFTRQEYERRAQLKLMDDLDKVLRPRAAGSGGPGRGGRRATRPRSGCCDDSALARSPARGLLGSRLSKIYSQSTL
  SLSTVANEAHNNLGVKRPTSRAPSPSGLMSPSRLPGSRERDWENGSNASSPASVPEYTGPRLYKEPSAKSNKFII
  HNALSHCCLAGKVNEPQKNRILEEIEKSKANHFLILFRDSSCQFRALYTLSGETEELSRLAGYGPRTVTPAMVEG
  IYKYNSDRKRFTQIPAKTMSMSVDAFTIQGHLWQGKKPTTPKKGGGTPK

• Structural information:
  • Protein Domains: (203..31-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (1109..124-)
    (/note="CKK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00841"-)
  • Interpro: IPR032940  IPR031372  IPR022613  IPR001715  IPR036872   IPR038209  IPR014797  IPR011033  
  • Prosite: PS50021 PS51508
  • DIP: 52405
  • STRING: ENSP00000416797
• Other Databases: GeneCards:  CAMSAP3  Malacards:  CAMSAP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0007026	negative regulation of microtubule depolymerization	IBA	biological process
GO:0036449	microtubule minus-end	IBA	colocalizes with
GO:0051011	microtubule minus-end binding	IBA	molecular function
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0030951	establishment or maintenance of microtubule cytoskeleton polarity	IDA	biological process
GO:0030334	regulation of cell migration	IDA	biological process
GO:0030951	establishment or maintenance of microtubule cytoskeleton polarity	IDA	biological process
GO:0005915	zonula adherens	IDA	cellular component
GO:0005813	centrosome	IDA	colocalizes with
GO:0045198	establishment of epithelial cell apical/basal polarity	IDA	biological process
GO:0031113	regulation of microtubule polymerization	IDA	biological process
GO:0000226	microtubule cytoskeleton organization	IDA	biological process
GO:0036449	microtubule minus-end	IDA	colocalizes with
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0051893	regulation of focal adhesion assembly	IDA	biological process
GO:0000226	microtubule cytoskeleton organization	IDA	biological process
GO:0045198	establishment of epithelial cell apical/basal polarity	IDA	biological process
GO:1903358	regulation of Golgi organization	IDA	biological process
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0098840	protein transport along microtubule	ISS	biological process
GO:0045218	zonula adherens maintenance	IMP	biological process
GO:0034453	microtubule anchoring	IMP	biological process
GO:0033043	regulation of organelle organization	IMP	biological process
GO:0009792	embryo development ending in birth or egg hatching	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090136	epithelial cell-cell adhesion	IMP	biological process
GO:0070507	regulation of microtubule cytoskeleton organization	IMP	biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0008017	microtubule binding	IEA	molecular function
GO:0030507	spectrin binding	IEA	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0098840	protein transport along microtubule	IEA	biological process
GO:0033043	regulation of organelle organization	IEA	biological process
GO:0030951	establishment or maintenance of microtubule cytoskeleton polarity	IEA	biological process
GO:0051011	microtubule minus-end binding	IEA	molecular function
GO:0045198	establishment of epithelial cell apical/basal polarity	IEA	biological process
GO:0036449	microtubule minus-end	IEA	cellular component
GO:0031113	regulation of microtubule polymerization	IEA	biological process
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq