• Gene id: 157922

Gene Summary

• Gene Symbol: CAMSAP1   Gene   UCSC   Ensembl
• Gene name: calmodulin regulated spectrin associated protein 1
• Alternate names: calmodulin-regulated spectrin-associated protein 1, epididymis secretory sperm binding protein,
• Gene location: 9q34.3 (135907550: 135808486)     Exons: 19     NC_000009.12
• OMIM: 613774

Protein Summary

• Protein general information: Q5T5Y3  
  • Name: Calmodulin regulated spectrin associated protein 1
  • Length: 1602  
  • Mass: 177972
• Sequence:

  MVDASGRAAAEGWRKMEAPPDGAADLVPLDRYDAARAKIAANLQWICAKAYGRDNIPEDLRDPFYVDQYEQEHIK
  PPVIKLLLSSELYCRVCSLILKGDQVAALQGHQSVIQALSRKGIYVMESDDTPVTESDLSRAPIKMSAHMAMVDA
  LMMAYTVEMISIEKVVASVKRFSTFSASKELPYDLEDAMVFWINKVNLKMREITEKEVKLKQQLLESPAHQKVRY
  RREHLSARQSPYFPLLEDLMRDGSDGAALLAVIHYYCPEQMKLDDICLKEVTSMADSLYNIRLLREFSNEYLNKC
  FYLTLEDMLYAPLVLKPNVMVFIAELFWWFENVKPDFVQPRDVQELKDAKTVLHQKSSRPPVPISNATKRSFLGS
  PAAGTLAELQPPVQLPAEGCHRHYLHPEEPEYLGKGTAAFSPSHPLLPLRQKQQKSIQGEDIPDQRHRSNSLTRV
  DGQPRGAAIAWPEKKTRPASQPTPFALHHAASCEVDPSSGDSISLARSISKDSLASNIVNLTPQNQPHPTATKSH
  GKSLLSNVSIEDEEEELVAIVRADVVPQQADPEFPRASPRALGLTANARSPQGQLDTSESKPDSFFLEPLMPAVL
  KPAKEKQVITKEDERGEGRPRSIVSRRPSEGPQPLVRRKMTGSRDLNRTFTPIPCSEFPMGIDPTETGPLSVETA
  GEVCGGPLALGGFDPFPQGPSTDGFFLHVGRADEDTEGRLYVSCSKSPNSHDSEPWTLLRQDSDSDVVDIEEAEH
  DFMGEAHPVVFSRYIGEEESAKLQEDMKVKEHEDKDDASGRSSPCLSTASQMSSVSMASGSVKMTSFAERKLQRL
  NSCETKSSTSSSQKTTPDASESCPAPLTTWRQKREQSPSQHGKDPASLLASELVQLHMQLEEKRRAIEAQKKKME
  ALSARQRLKLGKAAFLHVVKKGKAEAAPPLRPEHFAKEYSQHNGEDCGDAVSKTEDFLVKEEQREELLHEPQDVD
  KESLAFAQQHKAKDPVALHELERNKVISAALLEDTVGEVVDVNECDLSIEKLNETISTLQQAILKISQQQEQLLM
  KSPTVPVPGSKNNSQDHKVKAPVHFVEPLSPTGVAGHRKAPRLGQGRNSRSGRPAELKVPKDRPQGSSRSKTPTP
  SVETLPHLRPFPASSHPRTPTDPGLDSALEPSGDPHGKCLFDSYRLHDESNQRTLTLSSSKDANILSEQMSLKEV
  LDASVKEVGSSSSDVSGKESVPVEEPLRSRASLIEVDLSDLKAPDEDGELVSLDGSADLVSEGDQKPGVGFFFKD
  EQKAEDELAKKRAAFLLKQQRKAEEARVRKQQLEAEVELKRDEARRKAEEDRVRKEEEKARRELIKQEYLRRKQQ
  QILEEQGLGKPKSKPKKPRPKSVHREESCSDSGTKCSSTPDNLSRTQSGSSLSLASAATTEPESVHSGGTPSQRV
  ESMEALPILSRNPSRSTDRDWETASAASSLASVAEYTGPKLFKEPSSKSNKPIIHNAISHCCLAGKVNEPHKNSI
  LEELEKCDANHYIILFRDAGCQFRALYCYYPDTEEIYKLTGTGPKNITKKMIDKLYKYSSDRKQFNLIPAKTMSV
  SVDALTIHNHLWQPKRPAVPKKAQTRK

• Structural information:
  • Protein Domains: (216..33-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (1463..159-)
    (/note="CKK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00841"-)
  • Interpro: IPR032940  IPR031372  IPR022613  IPR001715  IPR036872   IPR038209  IPR014797  IPR011033  
  • Prosite: PS50021 PS51508
  • PDB: 5M54 5M5C 6QUS 6QVJ
  • PDBsum: 5M54 5M5C 6QUS 6QVJ
  • STRING: ENSP00000374183
• Other Databases: GeneCards:  CAMSAP1  Malacards:  CAMSAP1

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:0030507	spectrin binding	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0005874	microtubule	IDA	cellular component
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: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:0031175	neuron projection development	IGI	biological process
GO:0031175	neuron projection development	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0005516	calmodulin binding	ISS	molecular function
GO:0022604	regulation of cell morphogenesis	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:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0030507	spectrin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray