KEGG T01001: 8573

Homo sapiens (human): 8573

Entry

8573 CDS T01001

Gene name

CASK, CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8

Definition

calcium/calmodulin-dependent serine protein kinase (MAGUK family) (EC:2.7.11.1)

Orthology

K06103

calcium/calmodulin-dependent serine protein kinase [EC:2.7.11.1]

Organism

hsa Homo sapiens (human)

Pathway

hsa04530

Tight junction

Disease

H00577	Syndromic X-linked mental retardation with epilepsy or seizures
H00894	FG syndrome (FGS)

Class

Cellular Processes; Cell communication; Tight junction [PATH:hsa04530]

SSDB

Motif

Pfam:

Pkinase Guanylate_kin L27 Pkinase_Tyr PDZ SH3_2 SH3_1 SH3_9 PDZ_2

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

1KGD 3C0I 1KWA 3MFR 3MFS 3C0G 3TAC 3MFT 3MFU 3C0H 1ZL8

Position

Xp11.4

AA seq 898 aa
MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLK
REASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASH
YMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRV
GTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPR
QWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNA
RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHAL
TDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYP
ENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEALRVTPPPTSPYLNGDSPESANGDM
DMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREIN
GISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCEDLPSTTQPKGRQIYVRAQFEY
DPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGKLENSKNGTAGLIPSPELQEWRVA
CIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNADLVTYEEVVKLPAFKRKTLVLLGAH
GVGRRHIKNTLITKHPDRFAYPIPHTTRPPKKDEENGKNYYFVSHDQMMQDISNNEYLEY
GSHEDAMYGTKLETIRKIHEQGLIAILDVEPQALKVLRTAEFAPFVVFIAAPTITPGLNE
DESLQRLQKESDILQRTYAHYFDLTIINNEIDETIRHLEEAVELVCTAPQWVPVSWVY

NT seq 2697 nt +upstreamnt +downstreamnt
atggccgacgacgacgtgctgttcgaggatgtgtacgagctgtgcgaggtgatcggaaag
ggtcccttcagtgttgtacgacgatgtatcaacagagaaactgggcaacaatttgctgta
aaaattgttgatgtagccaagttcacatcaagtccagggttaagtacagaagatctaaag
cgggaagccagtatctgtcatatgctgaaacatccacacattgtagagttattggagaca
tatagctcagatggaatgctttacatggttttcgaatttatggatggagcagatctgtgt
tttgaaatcgtaaagcgagctgacgctggttttgtgtacagtgaagctgtagccagccat
tatatgagacagatactggaagctctacgctactgccatgataataacataattcacagg
gatgtgaagccccactgtgttctccttgcctcaaaagaaaactcggcacctgttaaactt
ggaggctttggggtagctattcaattaggggagtctggacttgtagctggaggacgtgtt
ggaacacctcattttatggcaccagaagtggtcaaaagagagccttacggaaagcctgta
gacgtctgggggtgcggtgtgatcctttttatcctgctcagtggttgtttgcctttttac
ggaaccaaggaaagattgtttgaaggcattattaaaggaaaatataagatgaatccaagg
cagtggagccatatctctgaaagtgccaaagacctagtacgtcgcatgctgatgctggat
ccagctgaaaggatcactgtttatgaagcactgaatcacccatggcttaaggagcgggat
cgttacgcctacaagattcatcttccagaaacagtagagcagctgaggaaattcaatgca
aggaggaaactaaagggtgcagtactagccgctgtgtcaagtcacaaattcaactcattc
tatggggatccccctgaagagttaccagatttctccgaagaccctacctcctcaggactt
ctagcagcagaaagagcagtctcacaggtgctggacagcctggaagagattcatgcgctt
acagactgcagtgaaaaggacctagattttctacacagtgttttccaggatcagcatctt
cacacactactagatctgtatgacaaaattaacacaaagtcttcaccacaaatcaggaat
cctccaagcgatgcagtacagagagccaaagaggtattggaagaaatttcatgttaccct
gagaataacgacgcaaaggaactaaagcgtattttaacacaacctcatttcatggcctta
cttcagactcacgacgtagtggcacatgaagtttacagtgatgaagcattgagggtcaca
cctcctcccacctctccctatttaaacggcgattctccagaaagtgctaacggagacatg
gatatggagaatgtgaccagagttcggctggtacagtttcaaaagaacacagatgaacca
atgggaatcactttaaaaatgaatgaactaaatcattgtattgttgcaagaattatgcat
gggggcatgattcacaggcaaggtacacttcatgttggtgatgaaattcgagaaatcaat
ggcatcagtgtggctaaccaaacagtggaacaactgcaaaaaatgcttagggaaatgcgg
gggagtattaccttcaagattgtgccaagttaccgcactcagtcttcgtcctgtgaggac
ttgccatcaactacccaaccaaaaggacgacagatctatgtaagagcacaatttgaatat
gatccagccaaggatgacctcatcccctgtaaagaagctggcattcgattcagagttggt
gacatcatccagattattagtaaggatgatcataattggtggcagggtaaactggaaaac
tccaaaaatggaactgcaggtctcattccttctcctgaacttcaggaatggcgagtagct
tgcattgccatggagaagaccaaacaggagcagcaggccagctgtacttggtttggcaag
aaaaagaagcagtacaaagataaatatttggcaaagcacaatgcagatcttgtcacatat
gaagaagtagtaaaactgccagcattcaagaggaaaacactagtcttattaggcgcacat
ggtgttgggagaagacacataaaaaacactctcatcacaaagcacccagaccggtttgcg
taccctattccacatacaaccagacctccaaagaaagacgaagaaaatggaaagaattat
tactttgtatctcatgaccaaatgatgcaagacatctctaataacgagtacttggagtac
ggcagccacgaggatgcgatgtatgggacaaaactggagaccatccggaagatccacgag
caggggctgattgcaatactggacgtggagcctcaggcactgaaggtcctgagaactgca
gagtttgctccttttgttgttttcattgctgcaccaactattactccaggtttaaatgag
gatgaatctcttcagcgtctgcagaaggagtctgacatcttacagagaacatatgcacac
tacttcgatctcacaattatcaacaatgaaattgatgagacaatcagacatctggaggaa
gctgttgagctcgtgtgcacagccccacagtgggtccctgtctcctgggtctattag

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (12)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   RefSeq(pep) (3)   
DNA sequence (37)   
   RefSeq(nuc) (3)   
   GenBank (17)   
   EMBL (17)   
3D Structure (11)   
   PDB (11)   
Protein domain (9)   
   Pfam (9)   
All databases (90)   

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