Gene Gene information from NCBI Gene database.
Entrez ID 57524
Gene name CASK interacting protein 1
Gene symbol CASKIN1
Synonyms (NCBI Gene)
ANKS5A
Chromosome 16
Chromosome location 16p13.3
miRNA miRNA information provided by mirtarbase database.
330
miRTarBase ID miRNA Experiments Reference
MIRT483790 hsa-miR-6758-5p PAR-CLIP 20371350
MIRT483788 hsa-miR-6856-5p PAR-CLIP 20371350
MIRT483787 hsa-miR-3125 PAR-CLIP 20371350
MIRT483786 hsa-miR-3916 PAR-CLIP 20371350
MIRT483785 hsa-miR-6859-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21763699, 22153505
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS 12040031
GO:0007165 Process Signal transduction ISS 12040031
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612184 20879 ENSG00000167971
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WXD9
Protein name Caskin-1 (CASK-interacting protein 1)
Protein function May link the scaffolding protein CASK to downstream intracellular effectors.
PDB 3SEI , 3SEN , 7ATY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 7 112 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 98 174 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 169 251 Ankyrin repeats (3 copies) Repeat
PF07653 SH3_2 285 343 Variant SH3 domain Domain
PF16600 Caskin1-CID 373 421 Caskin1 CASK-interaction domain Family
PF00536 SAM_1 470 533 SAM domain (Sterile alpha motif) Domain
PF00536 SAM_1 540 603 SAM domain (Sterile alpha motif) Domain
PF16907 Caskin-Pro-rich 876 964 Family
PF16632 Caskin-tail 1370 1431 C-terminal region of Caskin Disordered
Sequence
MGKEQELVQAVKAEDVGTAQRLLQRPRPGKAKLLGSTKKINVNFQDPDGFSALHHAALNG
NTELISLLLEAQAAVDIKDNKGMRPLHYAAWQGRKEP
MKLVLKAGSAVNIPSDEGHIPLH
LAAQHGHYDVSEMLLQHQSNPCMVDNSGKTPLDLACEFGRVGVVQLLLSSNMCAALLEPR
PGDATDPNGTSPLHLAAKNGHIDIIRLLLQAGIDINRQTKSGTALHEAALCGKTEVVRLL
LDSGINAHVRN
TYSQTALDIVHQFTTSQASREIKQLLREASAALQVRATKDYCNNYDLTS
LNVKAGDIITVLEQHPDGRWKGCIHDNRTGNDRVGYFPSSLGE
AIVKRAGSRAGTEPSLP
QGSSSSGPSAPPEEIWVLRKPFAGGDRSGSISGMAGGRGSGGHALHAGSEGVKLLATVLS
Q
KSVSESGPGDSPAKPPEGSAGVARSQPPVAHAGQVYGEQPPKKLEPASEGKSSEAVSQW
LTAFQLQLYAPNFISAGYDLPTISRMTPEDLTAIGVTKPGHRKKIAAEISGLS
IPDWLPE
HKPANLAVWLSMIGLAQYYKVLVDNGYENIDFITDITWEDLQEIGITKLGHQKKLMLAVR
KLA
ELQKAEYAKYEGGPLRRKAPQSLEVMAIESPPPPEPTPADCQSPKMTTFQDSELSDE
LQAAMTGPAEVGPTTEKPSSHLPPTPRATTRQDSSLGGRARHMSSSQELLGDGPPGPSSP
MSRSQEYLLDEGPAPGTPPREARPGRHGHSIKRASVPPVPGKPRQVLPPGTSHFTPPQTP
TKTRPGSPQALGGPHGPAPATAKVKPTPQLLPPTERPMSPRSLPQSPTHRGFAYVLPQPV
EGEVGPAAPGPAPPPVPTAVPTLCLPPEADAEPGRPKKRAHSLNRYAASDSEPERDELLV
PAAAGPYATVQRRVGRSHSVRAPAGADKNVNRSQSFAVRPRKKGPPPPPPKRSSSALASA
NLAD
EPVPDAEPEDGLLGVRAQCRRASDLAGSVDTGSAGSVKSIAAMLELSSIGGGGRAA
RRPPEGHPTPRPASPEPGRVATVLASVKHKEAIGPGGEVVNRRRTLSGPVTGLLATARRG
PGESADPGPFVEDGTGRQRPRGPSKGEAGVEGPPLAKVEASATLKRRIRAKQNQQENVKF
ILTESDTVKRRPKAKEREAGPEPPPPLSVYHNGTGTVRRRPASEQAGPPELPPPPPPAEP
PPTDLAHLPPLPPPEGEARKPAKPPVSPKPVLTQPVPKLQGSPTPTSKKVPLPGPGSPEV
KRAHGTPPPVSPKPPPPPTAPKPVKAVAGLPSGSAGPSPAPSPARQPPAALAKPPGTPPS
LGASPAKPPSPGAPALHVPAKPPRAAAAAAAAAAAPPAPPEGASPGDSARQKLEETSACL
AAALQAVEEKIRQEDAQGPRDSAAEKSTGSILDDIGSMFDDLADQLDAMLE
Sequence length 1431
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 31727973
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31727973
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 36672919 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33897701 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 34777696 Associate
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 34777696 Associate
★☆☆☆☆
Found in Text Mining only
Psychotic Disorders Psychotic disorders Pubtator 36672919 Associate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia Pubtator 36672919 Associate
★☆☆☆☆
Found in Text Mining only