Gene Gene information from NCBI Gene database.
Entrez ID 157922
Gene name Calmodulin regulated spectrin associated protein 1
Gene symbol CAMSAP1
Synonyms (NCBI Gene)
CDCBM12
Chromosome 9
Chromosome location 9q34.3
miRNA miRNA information provided by mirtarbase database.
531
miRTarBase ID miRNA Experiments Reference
MIRT027162 hsa-miR-103a-3p Sequencing 20371350
MIRT031287 hsa-miR-19b-3p Sequencing 20371350
MIRT032062 hsa-miR-16-5p Sequencing 20371350
MIRT040620 hsa-miR-92b-3p CLASH 23622248
MIRT037300 hsa-miR-877-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IDA 24486153, 24706919
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005516 Function Calmodulin binding IEA
GO:0005516 Function Calmodulin binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613774 19946 ENSG00000130559
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T5Y3
Protein name Calmodulin-regulated spectrin-associated protein 1
Protein function Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24117850, PubMed:24486153, PubMed:24706919). Specifi
PDB 5M54 , 5M5C , 6QUS , 6QVJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11971 CAMSAP_CH 229 312 CAMSAP CH domain Domain
PF17095 CAMSAP_CC1 863 921 Spectrin-binding region of Ca2+-Calmodulin Family
PF08683 CAMSAP_CKK 1464 1582 Microtubule-binding calmodulin-regulated spectrin-associated Domain
Sequence
MVDASGRAAAEGWRKMEAPPDGAADLVPLDRYDAARAKIAANLQWICAKAYGRDNIPEDL
RDPFYVDQYEQEHIKPPVIKLLLSSELYCRVCSLILKGDQVAALQGHQSVIQALSRKGIY
VMESDDTPVTESDLSRAPIKMSAHMAMVDALMMAYTVEMISIEKVVASVKRFSTFSASKE
LPYDLEDAMVFWINKVNLKMREITEKEVKLKQQLLESPAHQKVRYRREHLSARQSPYFPL
LEDLMRDGSDGAALLAVIHYYCPEQMKLDDICLKEVTSMADSLYNIRLLREFSNEYLNKC
FYLTLEDMLYAP
LVLKPNVMVFIAELFWWFENVKPDFVQPRDVQELKDAKTVLHQKSSRP
PVPISNATKRSFLGSPAAGTLAELQPPVQLPAEGCHRHYLHPEEPEYLGKGTAAFSPSHP
LLPLRQKQQKSIQGEDIPDQRHRSNSLTRVDGQPRGAAIAWPEKKTRPASQPTPFALHHA
ASCEVDPSSGDSISLARSISKDSLASNIVNLTPQNQPHPTATKSHGKSLLSNVSIEDEEE
ELVAIVRADVVPQQADPEFPRASPRALGLTANARSPQGQLDTSESKPDSFFLEPLMPAVL
KPAKEKQVITKEDERGEGRPRSIVSRRPSEGPQPLVRRKMTGSRDLNRTFTPIPCSEFPM
GIDPTETGPLSVETAGEVCGGPLALGGFDPFPQGPSTDGFFLHVGRADEDTEGRLYVSCS
KSPNSHDSEPWTLLRQDSDSDVVDIEEAEHDFMGEAHPVVFSRYIGEEESAKLQEDMKVK
EHEDKDDASGRSSPCLSTASQMSSVSMASGSVKMTSFAERKLQRLNSCETKSSTSSSQKT
TPDASESCPAPLTTWRQKREQSPSQHGKDPASLLASELVQLHMQLEEKRRAIEAQKKKME
ALSARQRLKLGKAAFLHVVKK
GKAEAAPPLRPEHFAKEYSQHNGEDCGDAVSKTEDFLVK
EEQREELLHEPQDVDKESLAFAQQHKAKDPVALHELERNKVISAALLEDTVGEVVDVNEC
DLSIEKLNETISTLQQAILKISQQQEQLLMKSPTVPVPGSKNNSQDHKVKAPVHFVEPLS
PTGVAGHRKAPRLGQGRNSRSGRPAELKVPKDRPQGSSRSKTPTPSVETLPHLRPFPASS
HPRTPTDPGLDSALEPSGDPHGKCLFDSYRLHDESNQRTLTLSSSKDANILSEQMSLKEV
LDASVKEVGSSSSDVSGKESVPVEEPLRSRASLIEVDLSDLKAPDEDGELVSLDGSADLV
SEGDQKPGVGFFFKDEQKAEDELAKKRAAFLLKQQRKAEEARVRKQQLEAEVELKRDEAR
RKAEEDRVRKEEEKARRELIKQEYLRRKQQQILEEQGLGKPKSKPKKPRPKSVHREESCS
DSGTKCSSTPDNLSRTQSGSSLSLASAATTEPESVHSGGTPSQRVESMEALPILSRNPSR
STDRDWETASAASSLASVAEYTGPKLFKEPSSKSNKPIIHNAISHCCLAGKVNEPHKNSI
LEELEKCDANHYIILFRDAGCQFRALYCYYPDTEEIYKLTGTGPKNITKKMIDKLYKYSS
DRKQFNLIPAKTMSVSVDALTI
HNHLWQPKRPAVPKKAQTRK
Sequence length 1602
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CAMSAP1-related neuronal migration disorder Likely pathogenic; Pathogenic rs2491269542, rs1417914545, rs2491236071, rs1835459356, rs1835535749 RCV003153254
RCV003153256
RCV003153257
RCV003153246
RCV003153245
Cortical dysplasia, complex, with other brain malformations 12 Likely pathogenic; Pathogenic rs2491269542, rs1417914545, rs1835459356, rs1835535749 RCV003164424
RCV003164426
RCV003166568
RCV003166567
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 35132928
Colorectal Neoplasms Associate 31951832
COVID 19 Associate 34256840
Diabetes Mellitus Associate 32312268
Diabetes Mellitus Type 2 Associate 32312268
Inflammation Associate 34256840
Leukemia Associate 26001296
Neoplasms Inhibit 35132928