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FLASH GENE
Symbol CASKIN1 contributors: shn/ - updated : 30-07-2010
HGNC name CASK interacting protein 1
HGNC id 20879
Location 16p13.3      Physical location : 2.227.183 - 2.246.465
Synonym symbol(s) KIAA1306, ANKS5A
DNA
TYPE functioning gene
STRUCTURE 19.28 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D16S3024 - D16S3395 - CASKIN1 - D16S3124 - D16S3070 - cen
Physical map
DKFZP566J2046 16p13.3 hypothetical protein DKFZp566J2046 MGC35212 16p13.3 hypothetical protein MGC35212 LOC342460 16p13.3 similar to c439A6.1 (novel protein similar to heparan sulfate (glucosamine) 3-O-sulfotransferases) SEPX1 16p13.3 selenoprotein X, 1 RPL3L 16p13.3 ribosomal protein L3-like NDUFB10 16p13.3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa RPS2 16p13.3 ribosomal protein S2 RNF151 16p13.3 ring finger protein 151 TBL3 16p13.3 transducin (beta)-like 3 NOXO1 16p13.3 NADPH oxidase organizer 1 GFER 16p13.3-p13.12 growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae) SYNGR3 16p13 synaptogyrin 3 LOC90850 16p13.3 hypothetical protein LOC90850 SLC9A3R2 16p13.3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2 NTHL1 16p13.3p13.2 nth endonuclease III-like 1 (E. coli) TSC2 16p13.3 tuberous sclerosis 2 PKD1 16p13.3 polycystic kidney disease 1 (autosomal dominant) RFWD1 16p13.3 ring finger and WD repeat domain 1 RAB26 16p13.3 RAB26, member RAS oncogene family CASKIN1 16p13.11 CASK interacting protein 1 GBL 16p13.3 G protein beta subunit-like MGC21830 16p13.3 hypothetical protein MGC21830 LOC388203 16 LOC388203 LOC283871 16p13.3 hypothetical protein LOC283871 E4F1 16p13.3 E4F transcription factor 1 DNASE1L2 16p13.3 deoxyribonuclease I-like 2 DCI 16p13.3 dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) RNPS1 16p13.3 RNA binding protein S1, serine-rich domain LOC388204 16 LOC388204 ABCA3 16p13.3 ATP-binding cassette, sub-family A (ABC1), member 3 LOC390669 16 similar to ATP-binding cassette transporter ABCA3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 5695 180 1431 brain 2002 12040031
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   specific
Reproductivemale systemtestis    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one SH3 domain
  • six ankyrin repeats
  • two sterile alpha motif (SAM) domains, that form a new type of SAM helical polymer
  • and a CASK interaction domain (CID)
  • the C terminus contains a long proline-rich sequence and a short conserved domain
  • HOMOLOGY
    interspecies homolog to Drosophila CG12424
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • CASK and CASKIN1 may work together to organize the cytomatrix in active zones
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • calcium/calmodulin-dependent serine protein kinase (MAGUK family), CASK and Mint 1
  • CASKIN1 and APBA1 interaction with CASK
  • CASK binds to a region of CASKIN1 called the CASK interaction domain (CID)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS