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Relevance to Autism

Rare mutations in the RB1CC1 gene have been identified with autism (Marshall et al., 2008).

Molecular Function

FIP200 as a crucial signaling component to coordinately regulate different cellu lar events by its interaction with multiple signaling pathways.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Highly Cited
Truncating mutations of RB1CC1 in human breast cancer.
Recent Recommendation
Rare coding variants in ten genes confer substantial risk for schizophrenia
Schizophrenia
Recent Recommendation
FIP200, a key signaling node to coordinately regulate various cellular processes.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN210R001 
 copy_number_gain 
  
  
 Unknown 
  
 Multiplex 
 GEN210R002 
 frameshift_variant 
 GT>GTT 
  
 De novo 
  
 Simplex 
 GEN210R003 
 missense_variant 
 c.1475T>G 
 p.Val492Gly 
 Familial 
  
 Simplex 
 GEN210R004 
 missense_variant 
 c.1484T>G 
 p.Met495Arg 
 Familial 
  
 Simplex 
 GEN210R005 
 missense_variant 
 c.1510G>T 
 p.Val504Leu 
 Familial 
  
 Simplex 
 GEN210R006 
 missense_variant 
 c.1703G>A 
 p.Arg568Gln 
 Familial 
  
 Simplex 
 GEN210R007 
 missense_variant 
 c.263C>G 
 p.Pro88Arg 
 Familial 
  
 Simplex 
 GEN210R008 
 synonymous_variant 
 c.1110C>T 
 p.Tyr370%3D 
 De novo 
  
  
 GEN210R009 
 missense_variant 
 c.2366G>T 
 p.Gly789Val 
 De novo 
  
 Multiplex 
 GEN210R010 
 synonymous_variant 
 c.1110C>T 
 p.Tyr370%3D 
 De novo 
  
 Simplex 
 GEN210R011 
 missense_variant 
 c.227A>G 
 p.Lys76Arg 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
8
Duplication
 1
 
8
Duplication
 1
 
8
Duplication
 1
 
8
Deletion-Duplication
 22
 

No Animal Model Data Available





Download RB1CC1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ATG13 ATG13 autophagy related 13 homolog (S. cerevisiae) 9776 O75143 IP; MS; COMPASS
Behrends C , et al. 2010
C12orf44 hromosome 12 open reading frame 44 60673 Q9BSB4 IP; MS; COMPASS
Behrends C , et al. 2010
C22ORF41 synaptonemal complex central element protein 3 644186 A1L190 IP; LC-MS/MS
Huttlin EL , et al. 2015
C9ORF128 Protein FAM221B 392307 A6H8Z2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCDC53 WASH complex subunit CCDC53 51019 Q9Y3C0 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDK19 cyclin-dependent kinase 19 23097 Q9BWU1 IP; MS
Ewing RM , et al. 2007
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 IP/WB
Choi JD , et al. 2012
DBNL drebrin-like 28988 Q9UJU6 IP; MS
Ewing RM , et al. 2007
DENR density-regulated protein 8562 O43583 IP; LC-MS/MS
Huttlin EL , et al. 2015
ERCC6L excision repair cross-complementing rodent repair deficiency, complementation group 6-like 54821 Q2NKX8 IP; MS
Ewing RM , et al. 2007
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
HSBP1 heat shock factor binding protein 1 3281 O75506 IP; MS; COMPASS
Behrends C , et al. 2010
MAP1LC3C microtubule-associated protein 1 light chain 3 gamma 440738 Q9BXW4 IP; MS; COMPASS
Behrends C , et al. 2010
MOBKL3 MOB1, Mps One Binder kinase activator-like 3 (yeast) 25843 Q9Y3A3 IP; MS
Ewing RM , et al. 2007
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit 5563 P54646 IP; MS; COMPASS
Behrends C , et al. 2010
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit 5565 O43741 IP; MS; COMPASS
Behrends C , et al. 2010
PTK2 PTK2 protein tyrosine kinase 2 5747 Q05397 GST; IP/WB
Ueda H , et al. 2000
PTK2B PTK2B protein tyrosine kinase 2 beta 2185 Q14289 Y2H; GST; IP/WB
Ueda H , et al. 2000
RB1 retinoblastoma 1 5925 P06400 ChIP; Luciferase reporter assay; EMSA
Ikebuchi K , et al. 2009
RBMX RNA binding motif protein, X-linked 27316 P38159 IP; MS; COMPASS
Behrends C , et al. 2010
RPA1 replication protein A1, 70kDa 6117 P27694 IP; MS; COMPASS
Behrends C , et al. 2010
RPA2 replication protein A2, 32kDa 6118 P15927 IP; MS; COMPASS
Behrends C , et al. 2010
SAFB scaffold attachment factor B 6294 Q15424 IP; MS; COMPASS
Behrends C , et al. 2010
SAFB2 scaffold attachment factor B2 9667 Q14151 IP; MS; COMPASS
Behrends C , et al. 2010
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 6598 Q12824 IP; MS; IP/WB
Chano T , et al. 2010
SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 140775 Q8TEV9 IP; MS; COMPASS
Behrends C , et al. 2010
TBK1 TANK-binding kinase 1 29110 Q9UHD2 IP; MS; COMPASS
Behrends C , et al. 2010
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TP53 tumor protein p53 7157 P04637 IP/WB
Chano T , et al. 2010
TRAF1 TNF receptor-associated factor 1 7185 Q13077 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSC1 tuberous sclerosis 1 7248 Q92574 Y2H; GST; IP/WB
Gan B , et al. 2005
TSC2 tuberous sclerosis 2 7249 P49815 IP/WB
Gan B , et al. 2005
ULK1 unc-51-like kinase 1 (C. elegans) 8408 O75385 IP; MS; COMPASS
Behrends C , et al. 2010
ULK2 unc-51-like kinase 2 (C. elegans) 9706 Q8IYT8 IP; MS; COMPASS
Behrends C , et al. 2010
VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 9218 Q9P0L0 IP; LC-MS/MS
Huttlin EL , et al. 2015
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C 9217 O95292 IP; LC-MS/MS
Huttlin EL , et al. 2015
YLPM1 YLP motif containing 1 56252 P49750 IP; MS; COMPASS
Behrends C , et al. 2010
Esrra estrogen related receptor, alpha 26379 O08580 Luciferase reporter assay; EMSA; ChIP
Akter MH , et al. 2007
Map3k5 mitogen-activated protein kinase kinase kinase 5 26408 O35099 IP/WB
Gan B , et al. 2006
Traf2 TNF receptor-associated factor 2 22030 P39429 IP/WB
Gan B , et al. 2006

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