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Relevance to Autism

A homozygous mutation in the CLTCL1 gene was found to segregate perfectly with disease in a multiplex ASD family. No homozygotes for his mutation were observed in 1328 control chromosomes. Seven additional compound heterozygous mutations in the CLTCL1 gene were identified in ASD cases from the replication cohort that were not observed in 371 controls (Chahrour et al., 2012).

Molecular Function

Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
Support
A survey of rare coding variants in candidate genes in schizophrenia by deep sequencing.
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN349R001 
 missense_variant;missense_variant 
 G>A 
 p.[Arg125Cys];[Arg125Cys] 
 Familial 
 Both Parents 
 Multiplex 
 GEN349R002 
 missense_variant;missense_variant 
  
 p.[Arg1620His];[Ala105Thr] 
 Familial 
  
  
 GEN349R003 
 missense_variant;missense_variant 
  
 p.[Val1592Met];[Ala105Thr] 
 Familial 
  
  
 GEN349R004 
 missense_variant;missense_variant 
  
 p.[Arg1311Gln];[Glu691Lys] 
 Familial 
  
  
 GEN349R005 
 missense_variant;missense_variant 
  
 p.[Glu1310Lys];[Glu330Lys] 
 Familial 
  
  
 GEN349R006 
 missense_variant;missense_variant 
  
 p.[Lys941Arg];[Arg574His] 
 Familial 
  
  
 GEN349R007 
 missense_variant;missense_variant 
  
 p.[Lys205Arg];[Ala105Thr] 
 Familial 
  
  
 GEN349R008 
 missense_variant;missense_variant 
  
 p.[Ala105Thr];[Pro61Leu] 
 Familial 
  
  
 GEN349R009 
 stop_gained 
 c.1219C>T 
 p.Gln407Ter 
 Unknown 
  
 Unknown 
 GEN349R010 
 copy_number_loss 
  
  
 Familial 
 Paternal 
  
 GEN349R011 
 missense_variant 
 c.1941T>A 
 p.Asn647Lys 
 De novo 
  
 Unknown 
 GEN349R012 
 missense_variant 
 c.1921C>T 
 p.Val641Ile 
 Unknown 
  
  
 GEN349R013 
 missense_variant 
 c.1912T>A 
 p.Arg638Trp 
 Unknown 
  
  
 GEN349R014 
 frameshift_variant 
 insA 
  
 Familial 
 Paternal 
 Multiplex 
 GEN349R015 
 frameshift_variant 
 insT 
  
 Familial 
 Paternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 5
 
22
Duplication
 1
 
22
Duplication
 7
  construct
22
Duplication
 1
 
22
Deletion-Duplication
 81
  construct
22
Deletion-Duplication
 11
 
22
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C4ORF6 Uncharacterized protein encoded by LINC01587 Q99440 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC27 Coiled-coil domain-containing protein 27 148870 Q2M243 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC69 cDNA FLJ13705 fis, clone PLACE2000302 Q9H8E5 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCL21 C-C motif chemokine 21 6366 O00585 IP; LC-MS/MS
Huttlin EL , et al. 2015
CLINT1 clathrin interactor 1 9685 Q14677 IP; LC-MS/MS
Huttlin EL , et al. 2015
CTSL1 Cathepsin L1 1514 P07711 IP; LC-MS/MS
Huttlin EL , et al. 2015
CUL3 cullin 3 8452 B7Z600 IP; MS; COMPASS
Bennett EJ , et al. 2010
CUTA cutA divalent cation tolerance homolog (E. coli) 51596 O60888 IP; LC-MS/MS
Huttlin EL , et al. 2015
EGFR epidermal growth factor receptor 1956 P00533 IP; MS; IP/WB
Wu SL , et al. 2006
FGFRL1 fibroblast growth factor receptor-like 1 53834 A0PJ49 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GALNT7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 51809 Q86SF2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GLTSCR2 glioma tumor suppressor candidate region gene 2 29997 Q9NZM5 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 2773 P08754 IP; LC-MS/MS
Huttlin EL , et al. 2015
GRIA3 glutamate receptor, ionotropic, AMPA 3 2892 P42263 IP; LC-MS/MS
Huttlin EL , et al. 2015
HLA-B major histocompatibility complex, class I, B 3106 P01889 IP; LC-MS/MS
Huttlin EL , et al. 2015
HSPBP1 HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 23640 Q9NZL4 IP; LC-MS/MS
Huttlin EL , et al. 2015
PICALM phosphatidylinositol binding clathrin assembly protein 8301 Q13492 IP/WB; GST
Tebar F , et al. 1999
PICALM phosphatidylinositol binding clathrin assembly protein 8301 Q13492 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRKAG3 5'-AMP-activated protein kinase subunit gamma-3 53632 Q9UGI9 IP; LC-MS/MS
Huttlin EL , et al. 2015
PVRIG Transmembrane protein PVRIG 79037 Q6DKI7 IP; LC-MS/MS
Huttlin EL , et al. 2015
RAB32 Ras-related protein Rab-32 10981 Q13637 IP; LC-MS/MS
Huttlin EL , et al. 2015
RPL6 ribosomal protein L6 6128 Q02878 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 6517 P14672 IP/WB
Vassilopoulos S , et al. 2009
SLC37A3 solute carrier family 37 (glycerol-3-phosphate transporter), member 3 84255 Q8NCC5 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNX5 sorting nexin 5 27131 Q9Y5X3 Y2H; IP/WB
Towler MC , et al. 2004
STAMBP STAM binding protein NM_201647 O95630 IP; LC-MS/MS
Huttlin EL , et al. 2015
STAMBPL1 STAM binding protein-like 1 57559 Q96FJ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
TCP10L T-complex protein 10A homolog 2 140290 Q8TDR4 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM199 transmembrane protein 199 147007 Q8N511 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM5 Transmembrane protein 5 10329 Q9Y2B1 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TTC30A tetratricopeptide repeat domain 30A 92104 Q86WT1 IP; LC-MS/MS
Huttlin EL , et al. 2015
TTC30B tetratricopeptide repeat domain 30B 150737 Q8N4P2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TTC9B Tetratricopeptide repeat protein 9B 148014 Q8N6N2 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 IP/WB
Kim W , et al. 2011
WDR16 WD repeat domain 16 146845 Q8N1V2 IP; LC-MS/MS
Huttlin EL , et al. 2015
WDR5B WD repeat domain 5B NM_019069 Q86VZ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF169 Zinc finger protein 169 169841 Q14929 IP; LC-MS/MS
Huttlin EL , et al. 2015

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