CASK
entrez
8573
canonical
uniprot
O14936
canonical
ensembl
ENSG00000147044
resolver
ensp
ENSP00000367400
resolver
ensp
ENSP00000367405
resolver
ensp
ENSP00000400526
resolver
ensp
ENSP00000494183
resolver
ensp
ENSP00000494788
resolver
ensp
ENSP00000495291
resolver
ensp
ENSP00000495357
resolver
ensp
ENSP00000495510
resolver
ensp
ENSP00000585577
resolver
ensp
ENSP00000651234
resolver
ensp
ENSP00000686799
resolver
ensp
ENSP00000736550
resolver
enst
ENST00000378158
resolver
enst
ENST00000421587
resolver
enst
ENST00000644219
resolver
genesymbol
CASK
resolver
genesymbol_syn
LIN2
resolver
hgnc
HGNC:1497
resolver
uniprot
A0A2R8YE77
resolver
uniprot
A0A2U3TZM1
resolver
uniprot
A0A7I2RJN6
resolver
uniprot
A6NES1
resolver
uniprot
B7ZKY0
resolver
uniprot
O43215
resolver
uniprot
Q17RI4
resolver
uniprot
Q59HA0
resolver
uniprot
Q5VT16
resolver
uniprot
Q5VT17
resolver
uniprot
Q5VT18
resolver
uniprot
Q5VT19
resolver
uniprot
Q66T42
resolver
uniprot
Q9BYH6
resolver
uniprot
Q9NYB2
resolver
uniprot
Q9NYB3
resolver
uniprot_entry
A0A2R8YE77_HUMAN
resolver
uniprot_entry
A0A2U3TZM1_HUMAN
resolver
uniprot_entry
A0A7I2RJN6_HUMAN
resolver
uniprot_entry
CSKP_HUMAN
resolver
uniprot_sec
A6NES1
resolver
uniprot_sec
B7ZKY0
resolver
uniprot_sec
O43215
resolver
uniprot_sec
Q17RI4
resolver
uniprot_sec
Q59HA0
resolver
uniprot_sec
Q5VT16
resolver
uniprot_sec
Q5VT17
resolver
uniprot_sec
Q5VT18
resolver
uniprot_sec
Q5VT19
resolver
uniprot_sec
Q66T42
resolver
uniprot_sec
Q9BYH6
resolver
uniprot_sec
Q9NYB2
resolver
uniprot_sec
Q9NYB3
resolver
activity_regulation
ACTIVITY REGULATION: Differs from archetypal CaMK members in that the kinase domain exhibits a constitutively active conformation and the autoinhibitory region does not engage in direct contact with the ATP-binding cleft, although it still binds Ca(2+)/CAM. {ECO:0000269|PubMed:18423203}.
uniprot
proteins
amino_acid_sequence
MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLKREASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASHYMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRVGTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPRQWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNARRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHALTDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYPENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEALRVTPPPTSPYLNGDSPESANGDMDMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREINGISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNSVSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVFDQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEIDETIRHLEEAVELVCTAPQWVPVSWVY
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of intellectual disability alone or associated with nystagmus. {ECO:0000269|PubMed:19165920, ECO:0000269|PubMed:19377476}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: FG syndrome 4 (FGS4) [MIM:300422]: FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. {ECO:0000269|PubMed:19200522}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Multidomain scaffolding Mg(2+)-independent protein kinase that catalyzes the phosphotransfer from ATP to proteins such as NRXN1, and plays a role in synaptic transmembrane protein anchoring and ion channel trafficking (PubMed:18423203). Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). {ECO:0000250|UniProtKB:O70589, ECO:0000269|PubMed:18423203}.
uniprot
proteins
mass_dalton
105123
uniprot
proteins
protein_family
CAMK Ser/Thr protein kinase family
uniprot
proteins
protein_family
CaMK subfamily; MAGUK family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
11003712
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18423203
uniprot
proteins
pubmed
19012874
uniprot
proteins
pubmed
19165920
uniprot
proteins
pubmed
19200522
uniprot
proteins
pubmed
19377476
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23662938
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9546224
uniprot
proteins
pubmed
9660868
uniprot
proteins
sequence_length
926
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q62915}. Cytoplasm {ECO:0000250|UniProtKB:Q62915}. Cell membrane {ECO:0000250|UniProtKB:Q62915}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q62915}.
uniprot
proteins