Property Summary

NCBI Gene PubMed Count 15
Grant Count 282
R01 Count 177
Funding $33,428,652.38
PubMed Score 5.52
PubTator Score 41.35

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9Y6B7 B7Z4X3 Q59EJ4 Q96CL6
Symbols CPSQ5
SPG47
BETA-4

Gene

PANTHER Protein Class (1)

PDB

2MJ7  

Gene RIF (2)

PMID Text
24781758 Novel homozygous 2-bp deletion in AP4B1 was found in siblings with intellectual disability and spastic tetraplegia.
22290197 Data suggest that AP4B1 mutations cause spastic paraplegia type 47 and should be considered in early onset spastic paraplegia with intellectual disability.

AA Sequence

MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYL      1 - 70
YMCTYAPLKPDLALLAINTLCKDCSDPNPMVRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVA     71 - 140
VLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIAHHLLNRMSKL    141 - 210
DQWGQAEVLNFLLRYQPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGP    211 - 280
LLAACSSESRELCFVALCHVRQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLE    281 - 350
ELRGYCTDVSADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTVVVQTFRDLVWLCPQCTEAVC    351 - 420
QALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAE    421 - 490
CQDMLGRLLYYCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDF    491 - 560
NTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPLIPEENKERVQELPDSGALMLVPNRQLTADY    561 - 630
FEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLE    631 - 700
PGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS                                   701 - 739
//

Publication (17)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22472443 2012 Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles.
22290197 2012 Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
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