ENSMUSG00000031012


Mus musculus

Features
Gene ID: ENSMUSG00000031012
  
Biological name :Cask
  
Synonyms : Cask / O70589 / Peripheral plasma membrane protein CASK
  
Possible biological names infered from orthology : calcium/calmodulin dependent serine protein kinase / O14936
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: A1.1
Gene start: 13517080
Gene end: 13851367
  
Corresponding Affymetrix probe sets: 10603708 (MoGene1.0st)   1422518_at (Mouse Genome 430 2.0 Array)   1422519_at (Mouse Genome 430 2.0 Array)   1427692_a_at (Mouse Genome 430 2.0 Array)   1455406_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000119584
Ensembl peptide - ENSMUSP00000117862
Ensembl peptide - ENSMUSP00000120299
Ensembl peptide - ENSMUSP00000122664
Ensembl peptide - ENSMUSP00000033321
Ensembl peptide - ENSMUSP00000111095
Ensembl peptide - ENSMUSP00000111096
Ensembl peptide - ENSMUSP00000111098
Ensembl peptide - ENSMUSP00000114187
NCBI entrez gene - 12361     See in Manteia.
MGI - MGI:1309489
RefSeq - XM_017318371
RefSeq - XM_011247436
RefSeq - XM_011247437
RefSeq - XM_011247438
RefSeq - XM_011247439
RefSeq - XM_011247440
RefSeq - XM_011247441
RefSeq - XM_017318366
RefSeq - XM_017318367
RefSeq - XM_017318368
RefSeq - XM_017318369
RefSeq - XM_017318370
RefSeq - NM_001284503
RefSeq - NM_001284504
RefSeq - NM_001284505
RefSeq - NM_009806
RefSeq - XM_006527560
RefSeq - XM_006527561
RefSeq - XM_011247431
RefSeq - XM_011247432
RefSeq - XM_011247433
RefSeq - XM_011247434
RefSeq - XM_011247435
RefSeq Peptide - NP_001271433
RefSeq Peptide - NP_001271434
RefSeq Peptide - NP_033936
RefSeq Peptide - NP_001271432
swissprot - B1AUH5
swissprot - A0A067XG53
swissprot - B1AUH6
swissprot - O70589
swissprot - F6Y9I5
swissprot - F6ZQR2
swissprot - F7CD87
Ensembl - ENSMUSG00000031012
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 caskaENSDARG00000059809Danio rerio
 caskbENSDARG00000100119Danio rerio
 CASKENSGALG00000042400Gallus gallus
 CASKENSG00000147044Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mpp1 / P70290 / membrane protein, palmitoylated / Q00013* / membrane palmitoylated protein 1*ENSMUSG0000003140228
Mpp6 / Q9JLB0 / membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) / Q9NZW5* / membrane palmitoylated protein 6*ENSMUSG0000003838825
Mpp2 / Q9WV34 / Mus musculus membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (Mpp2), transcript variant 1, mRNA. / Q14168* / membrane palmitoylated protein 2*ENSMUSG0000001731425
Mpp7 / MAGUK p55 subfamily member 7 isoform 2 / Q5T2T1* / membrane palmitoylated protein 7*ENSMUSG0000005744020
Mpp5 / Q9JLB2 / membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) / Q8N3R9* / membrane palmitoylated protein 5*ENSMUSG0000002111218
Mpp3 / membrane palmitoylated protein 3 / Q13368*ENSMUSG0000005237318
Mpp4 / Q6P7F1 / MAGUK p55 subfamily member 4 / Q96JB8* / membrane palmitoylated protein 4*ENSMUSG0000007955017
Dlg2 / Q91XM9 / Disks large homolog 2 / Q15700* / discs large MAGUK scaffold protein 2*ENSMUSG0000005257216
Dlg3 / P70175 / Disks large homolog 3 / Q92796* / discs large MAGUK scaffold protein 3*ENSMUSG0000000088116
Dlg1 / Q811D0 / Disks large homolog 1 / Q12959* / discs large MAGUK scaffold protein 1*ENSMUSG0000002277016
Dlg4 / Q62108 / Disks large homolog 4 / P78352* / discs large MAGUK scaffold protein 4*ENSMUSG0000002088614
Dlg5 / E9Q9R9 / Disks large homolog 5 / Q8TDM6* / discs large MAGUK scaffold protein 5*ENSMUSG0000002178213
Tjp1 / P39447 / tight junction protein 1 / Q07157*ENSMUSG0000003051611
Tjp2 / Q9Z0U1 / Tight junction protein ZO-2 / Q9UDY2* / AL358113.1* / tight junction protein 2*ENSMUSG0000002481211
Tjp3 / tight junction protein 3 / O95049*ENSMUSG0000003491711
Guk1 / guanylate kinase 1 / Q16774*ENSMUSG000000204446


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR004172  L27 domain
 IPR008144  Guanylate kinase-like domain
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR011009  Protein kinase-like domain superfamily
 IPR014775  L27 domain, C-terminal
 IPR020590  Guanylate kinase, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035473  CASK, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily
 IPR036892  L27 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001953 negative regulation of cell-matrix adhesion ISO
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0010839 negative regulation of keratinocyte proliferation ISO
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 biological_processGO:0061045 negative regulation of wound healing ISO
 biological_processGO:0070509 calcium ion import IMP
 biological_processGO:0090280 positive regulation of calcium ion import IDA
 biological_processGO:0090288 negative regulation of cellular response to growth factor stimulus ISO
 cellular_componentGO:0005604 basement membrane IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005652 nuclear lamina ISO
 cellular_componentGO:0005730 nucleolus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016363 nuclear matrix ISO
 cellular_componentGO:0031982 vesicle IDA
 cellular_componentGO:0045202 synapse IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042043 neurexin family protein binding IDA


Pathways (from Reactome)
Pathway description
Dopamine Neurotransmitter Release Cycle
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0000378 absent hair follicles "missing epidermal invaginations from which the hair shaft develops" [J:65039]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0000418 patchy hair "uneven spots of hair growth on the body" [J:26975]
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Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0000448 pointed snout "nose tapers to a small tip, sharper angle than wild type " [J:18378]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0000455 abnormal maxilla morphology "malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001211 wrinkled skin "irregular folds and/or indentations on the skin" [J:19212]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001222 epidermal hyperplasia "increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Casktm1Sud/Casktm1.1Sud,Tg(Prm-cre)58Og/0
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0001290 delayed eyelid opening "late average time for the first postnatal eye opening" [J:17792]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
Show

Allelic Composition: Dhhtm1Amc/Dhhtm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
Show

Allelic Composition: Casktm1.1Sud/Y
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Casktm1.1Sud/Y
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

 MP:0005445 abnormal neurotransmitter release "aberration in the secretion of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Casktm1.1Sud/Y
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0009655 abnormal secondary palate development "any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:16942766]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0009888 palatal shelves fail to meet at midline "polarized growth towards the midline following palatal shelf elevation does not occur" [PMID:16942766]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Casktm1Sud/Casktm1.1Sud,Tg(Prm-cre)58Og/0
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Casktm1Sud/Casktm1.1Sud,Tg(Prm-cre)58Og/0
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Casktm1.1Sud/Y
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Allelic Composition: Casktm1Sud/Casktm1.1Sud,Tg(Prm-cre)58Og/0
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0030273 mandibular retrognathia "abnormal posterior-shifted positioning of the lower jaw (mandible) relative to the facial skeleton and soft tissues" [MGI:anna]
Show

Allelic Composition: Alx1tm1Crm/Alx1tm1Crm
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: CaskTg(Bnlf1)1Wln/Y
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: CaskTg(Bnlf1)1Wln/CaskTg(Bnlf1)1Wln
Genetic Background: involves: C57BL/6J * CD-1 * DBA/2J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027162 C / Lin7c / O88952 / Q9NUP9* / lin-7 homolog C, crumbs cell polarity complex component*  / complex / reaction
 ENSMUSG00000019906 Lin7a / Q8JZS0 / lin-7 homolog A (C. elegans) / O14910* / lin-7 homolog A, crumbs cell polarity complex component*  / complex / reaction
 ENSMUSG00000024897 Apba1 / B2RUJ5 / Amyloid-beta A4 protein-binding family A member 1 / Q02410* / amyloid beta precursor protein binding family A member 1*  / complex / reaction
 ENSMUSG00000024044 Q9WV92 / Epb41l3 / Band 4.1-like protein 3 Band 4.1-like protein 3, N-terminally processed / Q9Y2J2* / erythrocyte membrane protein band 4.1 like 3*  / complex / reaction
 ENSMUSG00000028906 Epb41 / P48193 / erythrocyte membrane protein band 4.1 / P11171*  / reaction / complex
 ENSMUSG00000019978 O70318 / Epb41l2 / Mus musculus erythrocyte membrane protein band 4.1 like 2 (Epb41l2), transcript variant 3, mRNA. / O43491* / erythrocyte membrane protein band 4.1 like 2*  / complex / reaction
 ENSMUSG00000003872 B / Lin7b / O88951 / Q9HAP6* / lin-7 homolog B, crumbs cell polarity complex component*  / reaction / complex
 ENSMUSG00000026383 Q8BGS1 / Epb41l5 / Band 4.1-like protein 5 / Q9HCM4* / erythrocyte membrane protein band 4.1 like 5*  / reaction / complex
 ENSMUSG00000051790 Nlgn2 / Q69ZK9 / Neuroligin-2 / Q8NFZ4*  / complex / reaction
 ENSMUSG00000031302 Nlgn3 / Q8BYM5 / Neuroligin-3 / Q9NZ94*  / reaction / complex
 ENSMUSG00000063887 Nlgn1 / Q99K10 / Neuroligin-1 / Q8N2Q7*  / complex / reaction






 

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