Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57662
Gene name	Calmodulin regulated spectrin associated protein family member 3
Gene symbol	CAMSAP3
Synonyms (NCBI Gene)	KIAA1543NEZHAPPP1R80
Chromosome	19
Chromosome location	19p13.2

Show/Hide all (5)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051280	hsa-miR-16-5p	CLASH	23622248
MIRT047421	hsa-miR-10b-5p	CLASH	23622248
MIRT044980	hsa-miR-186-5p	CLASH	23622248
MIRT044191	hsa-miR-99b-5p	CLASH	23622248
MIRT040427	hsa-miR-615-3p	CLASH	23622248

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	24486153, 27693509
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	23169647
GO:0001701	Process	In utero embryonic development	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	ISS
GO:0003677	Function	DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	24486153, 27693509, 27802168, 28089391, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IDA	19041755
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	23169647
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005915	Component	Zonula adherens	IDA	19041755
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0008017	Function	Microtubule binding	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	ISS
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030334	Process	Regulation of cell migration	IDA	27693509
GO:0030507	Function	Spectrin binding	IEA
GO:0030951	Process	Establishment or maintenance of microtubule cytoskeleton polarity	IDA	26715742, 27802168
GO:0030951	Process	Establishment or maintenance of microtubule cytoskeleton polarity	IEA
GO:0031113	Process	Regulation of microtubule polymerization	IDA	24486153
GO:0031113	Process	Regulation of microtubule polymerization	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031298	Component	Replication fork protection complex	IBA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0033043	Process	Regulation of organelle organization	IEA
GO:0033043	Process	Regulation of organelle organization	IMP	23169647
GO:0034453	Process	Microtubule anchoring	IMP	19041755
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0036449	Component	Microtubule minus-end	IDA	24486153
GO:0036449	Component	Microtubule minus-end	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043111	Process	Replication fork arrest	IBA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IDA	26715742, 27802168
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IEA
GO:0045218	Process	Zonula adherens maintenance	IMP	19041755
GO:0051011	Function	Microtubule minus-end binding	IDA	19041755, 23169647, 24486153, 27693509
GO:0051011	Function	Microtubule minus-end binding	IEA
GO:0051015	Function	Actin filament binding	IDA	27693509
GO:0051893	Process	Regulation of focal adhesion assembly	IDA	27693509
GO:0070161	Component	Anchoring junction	IEA
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IMP	19041755
GO:0090136	Process	Epithelial cell-cell adhesion	IMP	19041755
GO:0098840	Process	Protein transport along microtubule	IEA
GO:0098840	Process	Protein transport along microtubule	ISS
GO:1903358	Process	Regulation of Golgi organization	IDA	28089391

MIM	HGNC	e!Ensembl
612685	29307	ENSG00000076826

Q9P1Y5

Protein name

Calmodulin-regulated spectrin-associated protein 3 (Protein Nezha)

Protein function

Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19041755, PubMed:23169647). Specifically recognizes growing microtubule minus-ends and

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11971	CAMSAP_CH	215 → 296	CAMSAP CH domain	Domain
PF17095	CAMSAP_CC1	585 → 643	Spectrin-binding region of Ca2+-Calmodulin	Family
PF08683	CAMSAP_CKK	1110 → 1228	Microtubule-binding calmodulin-regulated spectrin-associated	Domain

Sequence

MVEAAPPGPGPLRRTFLVPEIKSLDQYDFSRAKAAASLAWVLRAAFGGAEHVPPELWEPF
YTDQYAQEHVKPPVTRLLLSAELYCRAWRQALPQLETPPNPSALLALLARRGTVPALPER
PVREADLRHQPILMGAHLAVIDALMAAFAFEWTKTLPGPLALTSLEHKLLFWVDTTVRRL
QEKTEQEAAQRASPAAPADGAAPAQPSIRYRKDRVVARRAPCFPTVTSLQDLASGAALAA
TIHCYCPQLLRLEEVCLKDPMSVADSLYNLQLVQDFCASRLPRGCPLSLEDLLYVPPPLK
VNLVVMLAELFMCFEVLKPDFVQVKDLPDGHAASPRGTEASPPQNNSGSSSPVFTFRHPL
LSSGGPQSPLRGSTGSLKSSPSMSHMEALGKAWNRQLSRPLSQAVSFSTPFGLDSDVDVV
MGDPVLLRSVSSDSLGPPRPAPARTPTQPPPEPGDLPTIEEALQIIHSAEPRLLPDGAAD
GSFYLHSPEGPSKPSLASPYLPEGTSKPLSDRPTKAPVYMPHPETPSKPSPCLVGEASKP
PAPSEGSPKAVASSPAATNSEVKMTSFAERKKQLVKAEAEAGAGSPTSTPAPPEALSSEM
SELSARLEEKRRAIEAQKRRIEAIFAKHRQRLGKSAFLQVQPREASGEAEAEAEEADSGP
VPGGERPAGEGQGEPTSRPKAVTFSPDLGPVPHEGLGEYNRAVSKLSAALSSLQRDMQRL
TDQQQRLLAPPEAPGSAPPPAAWVIPGPTTGPKAASPSPARRVPATRRSPGPGPSQSPRS
PKHTRPAELRLAPLTRVLTPPHDVDSLPHLRKFSPSQVPVQTRSSILLAEETPPEEPAAR
PGLIEIPLGSLADPAAEDEGDGSPAGAEDSLEEEASSEGEPRVGLGFFYKDEDKPEDEMA
QKRASLLERQQRRAEEARRRKQWQEVEKEQRREEAARLAQEEAPGPAPLVSAVPMATPAP
AARAPAEEEVGPRKGDFTRQEYERRAQLKLMDDLDKVLRPRAAGSGGPGRGGRRATRPRS
GCCDDSALARSPARGLLGSRLSKIYSQSTLSLSTVANEAHNNLGVKRPTSRAPSPSGLMS
PSRLPGSRERDWENGSNASSPASVPEYTGPRLYKEPSAKSNKFIIHNALSHCCLAGKVNE
PQKNRILEEIEKSKANHFLILFRDSSCQFRALYTLSGETEELSRLAGYGPRTVTPAMVEG
IYKYNSDRKRFTQIPAKTMSMSVDAFTIQGHLWQGKKPTTPKKGGGTPK

Sequence length

1249

Interactions

View interactions

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC INFLAMMATORY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE INFLAMMATORY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CAMSAP3 (calmodulin regulated spectrin associated protein family member 3)