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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CAMSAP1-related neuronal migration disorder Likely pathogenic; Pathogenic rs2491269542, rs1417914545, rs2491236071, rs1835459356, rs1835535749 RCV003153254
RCV003153256
RCV003153257
RCV003153246
RCV003153245
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cortical dysplasia, complex, with other brain malformations 12 Likely pathogenic; Pathogenic rs2491269542, rs1417914545, rs1835459356, rs1835535749 RCV003164424
RCV003164426
RCV003166568
RCV003166567
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 31951832 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 32312268 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 32312268 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile psoriatic arthritis Juvenile arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile-Onset Still Disease Still Disease CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Laryngeal Squamous Cell Carcinoma Laryngeal Carcinoma BEFREE 24603804
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 26001296 Associate
★☆☆☆☆
Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative Seronegative polyarthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive Polyarthritis, Rheumatoid Factor Positive CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only