CASK calcium/calmodulin dependent serine protein kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASKprovided by HGNC
Official Full Name: calcium/calmodulin dependent serine protein kinaseprovided by HGNC
Primary source: HGNC:HGNC:1497
See related: Ensembl:ENSG00000147044 MIM:300172; AllianceGenome:HGNC:1497
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA
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, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Expression: Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.4

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (41514934..41923554, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (40919852..41328508, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (41374187..41782807, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
Title: Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
Title: Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating alpha-synuclein in Parkinson's disease.
Title: Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease.
Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
Title: Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Title: Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Title: Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
Title: Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
Functional analysis of CASK transcript variants expressed in human brain.
Title: Functional analysis of CASK transcript variants expressed in human brain.
Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK.
Title: Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK.
CASK related disorder: Epilepsy and developmental outcome.
Title: CASK related disorder: Epilepsy and developmental outcome.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency MedGen: C2720289 OMIM: 300908 GeneReviews: Not available	Compare labs
FG syndrome 4 MedGen: C1845546 OMIM: 300422 GeneReviews: CASK Disorders	Compare labs
Syndromic X-linked intellectual disability Najm type MedGen: C2677903 OMIM: 300749 GeneReviews: CASK Disorders	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69317 (e-PCR)
- UniSTS:53249

DXS8113 (e-PCR), detects polymorphism
- UniSTS:33119

DXS1392 (e-PCR)
- UniSTS:99690

RH17463 (e-PCR)
- UniSTS:81272

G49441 (e-PCR)
- UniSTS:109184

RH98899 (e-PCR)
- UniSTS:84623

Cask (e-PCR), detects polymorphism
- UniSTS:256655

GPR34_2219 (e-PCR)
- UniSTS:280721

SHGC-35026 (e-PCR)
- UniSTS:64412

L77315 (e-PCR)
- UniSTS:17058

GPR82_2567 (e-PCR)
- UniSTS:280738

SHGC-35951 (e-PCR)
- UniSTS:21413

DXS1387 (e-PCR)
- UniSTS:98981

RH68671 (e-PCR)
- UniSTS:73641

CASK__4512 (e-PCR)
- UniSTS:466108

Cask (e-PCR), detects polymorphism
- UniSTS:256961

RH78452 (e-PCR)
- UniSTS:78536

Cask (e-PCR), detects polymorphism
- UniSTS:548054

DXS1694 (e-PCR)
- UniSTS:148953

RH27222 (e-PCR)
- UniSTS:91359

SHGC-146100 (e-PCR)
- UniSTS:185079

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables guanylate kinase activity	TAS Traceable Author Statement more info	PubMed
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables neurexin family protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in GDP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in GMP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in calcium ion import	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cellular response to growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of keratinocyte proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcium ion import	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neurotransmitter secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
colocalizes_with basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in nuclear lamina	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: peripheral plasma membrane protein CASK

Names: calcium/calmodulin-dependent serin protein kinase; calcium/calmodulin-dependent serine protein kinase (MAGUK family); calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase; protein lin-2 homolog; trinucleotide repeat containing 8

NP_001119526.1

EC 2.7.11.1

NP_001119527.1

EC 2.7.11.1

NP_001354650.1

EC 2.7.11.1

NP_001397674.1

EC 2.7.11.1

NP_003679.2

EC 2.7.11.1

XP_006724629.1

EC 2.7.11.1

XP_011542295.1

EC 2.7.11.1

XP_011542296.1

EC 2.7.11.1

XP_011542297.1

EC 2.7.11.1

XP_011542298.1

EC 2.7.11.1

XP_011542299.1

EC 2.7.11.1

XP_047298557.1

EC 2.7.11.1

XP_054184003.1

EC 2.7.11.1

XP_054184004.1

EC 2.7.11.1

XP_054184005.1

EC 2.7.11.1

XP_054184006.1

EC 2.7.11.1

XP_054184007.1

EC 2.7.11.1

XP_054184008.1

EC 2.7.11.1

XP_054184009.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016754.2 RefSeqGene

Range

4481..413101

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001126054.3 → NP_001119526.1 peripheral plasma membrane protein CASK isoform 2

See identical proteins and their annotated locations for NP_001119526.1

Status: REVIEWED

Source sequence(s)

AL158144, AL353691, AL445239, AL603754, AL627402

Consensus CDS

CCDS48095.1

UniProtKB/TrEMBL

B7ZKY2

Related

ENSP00000495291.2, ENST00000646120.2

Conserved Domains (6) summary

smart00569
Location:348 → 401

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:593 → 654

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:488 → 568

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 307

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:710 → 883

Guanylate_kin; Guanylate kinase

pfam02828
Location:406 → 456

L27; L27 domain
NM_001126055.3 → NP_001119527.1 peripheral plasma membrane protein CASK isoform 3

See identical proteins and their annotated locations for NP_001119527.1

Status: REVIEWED

Source sequence(s)

AL158144, AL353691, AL445239, AL603754, AL627402

Consensus CDS

CCDS48094.1

UniProtKB/TrEMBL

B7ZKY2

Related

ENSP00000494183.1, ENST00000644347.1

Conserved Domains (6) summary

smart00569
Location:342 → 395

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:587 → 648

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:482 → 562

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 307

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:709 → 882

Guanylate_kin; Guanylate kinase

pfam02828
Location:400 → 450

L27; L27 domain
NM_001367721.1 → NP_001354650.1 peripheral plasma membrane protein CASK isoform 4

Status: REVIEWED

Source sequence(s)

AL158144, AL353691, AL445239, AL603754, AL627402

Consensus CDS

CCDS94598.1

UniProtKB/Swiss-Prot

A6NES1, B7ZKY0, O14936, O43215, Q17RI4, Q59HA0, Q5VT16, Q5VT17, Q5VT18, Q5VT19, Q66T42, Q9BYH6, Q9NYB2, Q9NYB3

UniProtKB/TrEMBL

B7ZKY2

Related

ENSP00000367405.1, ENST00000378163.7

Conserved Domains (6) summary

smart00569
Location:348 → 401

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:616 → 677

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:488 → 568

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 307

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:738 → 911

Guanylate_kin; Guanylate kinase

pfam02828
Location:406 → 456

L27; L27 domain
NM_001410745.1 → NP_001397674.1 peripheral plasma membrane protein CASK isoform 5

Status: REVIEWED

Source sequence(s)

AL158144, AL353691, AL445239, AL603754, AL627402

Consensus CDS

CCDS94597.1

UniProtKB/TrEMBL

A0A2R8YE77

Related

ENSP00000495357.1, ENST00000644219.1
NM_003688.4 → NP_003679.2 peripheral plasma membrane protein CASK isoform 1

See identical proteins and their annotated locations for NP_003679.2

Status: REVIEWED

Source sequence(s)

AL158144, AL353691, AL445239, AL603754, AL627402

Consensus CDS

CCDS14257.1

UniProtKB/TrEMBL

B7ZKY2

Related

ENSP00000494788.1, ENST00000645566.1

Conserved Domains (6) summary

smart00569
Location:348 → 401

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:616 → 677

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:488 → 568

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 307

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:733 → 906

Guanylate_kin; Guanylate kinase

pfam02828
Location:406 → 456

L27; L27 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

41514934..41923554 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724566.4 → XP_006724629.1 peripheral plasma membrane protein CASK isoform X6

See identical proteins and their annotated locations for XP_006724629.1

UniProtKB/TrEMBL

B7ZKY2

Related

ENSP00000398007.3, ENST00000442742.7

Conserved Domains (6) summary

smart00569
Location:342 → 395

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:575 → 636

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:482 → 562

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 307

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:697 → 870

Guanylate_kin; Guanylate kinase

pfam02828
Location:400 → 450

L27; L27 domain
XM_047442601.1 → XP_047298557.1 peripheral plasma membrane protein CASK isoform X3

UniProtKB/TrEMBL

A0A2U3TZM1

Related

ENSP00000367400.2, ENST00000378158.6
XM_011543996.3 → XP_011542298.1 peripheral plasma membrane protein CASK isoform X5

UniProtKB/TrEMBL

B7ZKY2

Conserved Domains (6) summary

smart00569
Location:348 → 401

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:581 → 642

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:488 → 568

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 313

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:703 → 876

Guanylate_kin; Guanylate kinase

pfam02828
Location:406 → 456

L27; L27 domain
XM_011543995.3 → XP_011542297.1 peripheral plasma membrane protein CASK isoform X4

See identical proteins and their annotated locations for XP_011542297.1

UniProtKB/TrEMBL

A0A7I2RJN6, B7ZKY2

Related

ENSP00000400526.4, ENST00000421587.8

Conserved Domains (6) summary

smart00569
Location:348 → 401

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:593 → 654

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:488 → 568

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 313

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:715 → 888

Guanylate_kin; Guanylate kinase

pfam02828
Location:406 → 456

L27; L27 domain
XM_011543994.3 → XP_011542296.1 peripheral plasma membrane protein CASK isoform X2

See identical proteins and their annotated locations for XP_011542296.1

UniProtKB/TrEMBL

B7ZKY2

Conserved Domains (6) summary

smart00569
Location:348 → 401

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:604 → 665

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:488 → 568

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 313

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:726 → 899

Guanylate_kin; Guanylate kinase

pfam02828
Location:406 → 456

L27; L27 domain
XM_011543993.3 → XP_011542295.1 peripheral plasma membrane protein CASK isoform X1

See identical proteins and their annotated locations for XP_011542295.1

UniProtKB/TrEMBL

B7ZKY2

Conserved Domains (6) summary

smart00569
Location:348 → 401

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:616 → 677

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:488 → 568

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd14094
Location:8 → 313

STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase

pfam00625
Location:738 → 911

Guanylate_kin; Guanylate kinase

pfam02828
Location:406 → 456

L27; L27 domain
XM_011543997.4 → XP_011542299.1 peripheral plasma membrane protein CASK isoform X7

UniProtKB/TrEMBL

A0A2R8Y6F8

Related

ENSP00000495510.2, ENST00000646087.2

Conserved Domains (6) summary

smart00569
Location:157 → 210

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12081
Location:425 → 486

SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase

cd00992
Location:297 → 377

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam00625
Location:547 → 720

Guanylate_kin; Guanylate kinase

pfam02828
Location:215 → 265

L27; L27 domain

cl21453
Location:1 → 122

PKc_like; Protein Kinases, catalytic domain

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

40919852..41328508 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328033.1 → XP_054184008.1 peripheral plasma membrane protein CASK isoform X6
XM_054328030.1 → XP_054184005.1 peripheral plasma membrane protein CASK isoform X3

UniProtKB/TrEMBL

A0A2U3TZM1
XM_054328032.1 → XP_054184007.1 peripheral plasma membrane protein CASK isoform X5
XM_054328031.1 → XP_054184006.1 peripheral plasma membrane protein CASK isoform X4

UniProtKB/TrEMBL

A0A7I2RJN6
XM_054328029.1 → XP_054184004.1 peripheral plasma membrane protein CASK isoform X2
XM_054328028.1 → XP_054184003.1 peripheral plasma membrane protein CASK isoform X1
XM_054328034.1 → XP_054184009.1 peripheral plasma membrane protein CASK isoform X7