CASK - Gene info - The Human Protein Atlas

Gene name

CASK (HGNC Symbol)

Synonyms

CAGH39, FGS4, LIN2, TNRC8

Description

Calcium/calmodulin-dependent serine protein kinase (MAGUK family) (HGNC Symbol)

Entrez gene summary

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

Chromosome

Cytoband

p11.4

Chromosome location (bp)

41514934 - 41923463

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147044 (version 78.38)

Entrez gene

8573

UniProt

O14936 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CASK-001

ENSP00000367400
ENST00000378158

O14936
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O14936 [Direct mapping]
Peripheral plasma membrane protein CASK

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Enzymes
   ENZYME proteins
   Transferases
   Kinases
   CAMK Ser/Thr protein kinases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0004385 [guanylate kinase activity]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004713 [protein tyrosine kinase activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005524 [ATP binding]
GO:0005604 [basement membrane]
GO:0005652 [nuclear lamina]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0006468 [protein phosphorylation]
GO:0007155 [cell adhesion]
GO:0010839 [negative regulation of keratinocyte proliferation]
GO:0015629 [actin cytoskeleton]
GO:0016363 [nuclear matrix]
GO:0016772 [transferase activity, transferring phosphorus-containing groups]
GO:0030198 [extracellular matrix organization]
GO:0042734 [presynaptic membrane]
GO:0046939 [nucleotide phosphorylation]
GO:0060170 [ciliary membrane]
GO:0061045 [negative regulation of wound healing]
GO:0090288 [negative regulation of cellular response to growth factor stimulus]

909

103.2

CASK-002

ENSP00000367421
ENST00000378179

Q5JS72
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Q5JS72 [Target identity:100%; Query identity:100%]
Peripheral plasma membrane protein CASK {ECO:0000313|Ensembl:ENSP00000367421}

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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005515 [protein binding]

518

59.4

CASK-004

ENSP00000400526
ENST00000421587

O14936
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O14936 [Direct mapping]
Peripheral plasma membrane protein CASK
Q5JS72 [Target identity:57%; Query identity:100%]
Peripheral plasma membrane protein CASK {ECO:0000313|Ensembl:ENSP00000367421}

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897

102.1

CASK-005

ENSP00000367408
ENST00000378166

O14936
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O14936 [Direct mapping]
Peripheral plasma membrane protein CASK

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GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0004385 [guanylate kinase activity]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0004713 [protein tyrosine kinase activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005524 [ATP binding]
GO:0005604 [basement membrane]
GO:0005634 [nucleus]
GO:0005652 [nuclear lamina]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005911 [cell-cell junction]
GO:0005925 [focal adhesion]
GO:0006468 [protein phosphorylation]
GO:0007155 [cell adhesion]
GO:0010839 [negative regulation of keratinocyte proliferation]
GO:0015629 [actin cytoskeleton]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0016363 [nuclear matrix]
GO:0016772 [transferase activity, transferring phosphorus-containing groups]
GO:0030198 [extracellular matrix organization]
GO:0042043 [neurexin family protein binding]
GO:0042734 [presynaptic membrane]
GO:0045202 [synapse]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046939 [nucleotide phosphorylation]
GO:0060170 [ciliary membrane]
GO:0061045 [negative regulation of wound healing]
GO:0070509 [calcium ion import]
GO:0090280 [positive regulation of calcium ion import]
GO:0090288 [negative regulation of cellular response to growth factor stimulus]

921

104.5

CASK-006

ENSP00000367396
ENST00000378154

Q5JS74
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Q5JS74 [Target identity:100%; Query identity:100%]
Peripheral plasma membrane protein CASK {ECO:0000313|Ensembl:ENSP00000367396}

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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0004672 [protein kinase activity]
GO:0004713 [protein tyrosine kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
GO:0016772 [transferase activity, transferring phosphorus-containing groups]

590

66.6

CASK-007

ENSP00000367405
ENST00000378163

O14936
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O14936 [Direct mapping]
Peripheral plasma membrane protein CASK

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926

105.1

CASK-012

ENSP00000367410
ENST00000378168

Q5JS79
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Q5JS79 [Target identity:100%; Query identity:100%]
Peripheral plasma membrane protein CASK {ECO:0000313|Ensembl:ENSP00000367410}

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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005515 [protein binding]

381

43.7

CASK-013

ENSP00000398007
ENST00000442742

O14936
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O14936 [Direct mapping]
Peripheral plasma membrane protein CASK

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898

102.2

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.