Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
157922
Gene name Gene Name - the full gene name approved by the HGNC.
Calmodulin regulated spectrin associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CAMSAP1
Synonyms (NCBI Gene) Gene synonyms aliases
CDCBM12
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613774 19946 ENSG00000130559
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Cortical Dysplasia With Other Brain Malformations cortical dysplasia, complex, with other brain malformations 12 N/A N/A GenCC
Renal Carcinoma Renal cell carcinoma N/A N/A GWAS
Associations from Text Mining Disease 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