Property Summary

NCBI Gene PubMed Count 11
Grant Count 3
Funding $780,016.5
PubMed Score 4.65
PubTator Score 3.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.738 0.000
intraductal papillary-mucinous neoplasm ... 1.400 0.013
group 3 medulloblastoma 1.100 0.003
ovarian cancer -1.100 0.000

Synonym

Accession Q9UPM8 A0AVD6 A1L4A9 A6NNX7 H0YKX4 Q68D31 Q9Y588
Symbols CPSQ4
SPG51
STUT1

Gene

Gene RIF (3)

PMID Text
26544806 Rare Variants in AP4E1 is associated with deficits in intracellular trafficking, and Persistent Stuttering.
26542808 The bivalency of the interactions contributes to a higher avidity of tepsin for AP-4.
20972249 An autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1.

AA Sequence

MSDIVEKTLTALPGLFLQNQPGGGPAAAKASFSSRLGSLVRGITALTSKHEEEKLIQQELSSLKATVSAP      1 - 70
TTTLKMMKECMVRLIYCEMLGYDASFGYIHAIKLAQQGNLLEKRVGYLAVSLFLHESHELLLLLVNTVVK     71 - 140
DLQSTNLVEVCMALTVVSQIFPCEMIPAVLPLIEDKLQHSKEIVRRKAVLALYKFHLIAPNQVQHIHIKF    141 - 210
RKALCDRDVGVMAASLHIYLRMIKENSSGYKDLTGSFVTILKQVVGGKLPVEFNYHSVPAPWLQIQLLRI    211 - 280
LGLLGKDDQRTSELMYDVLDESLRRAELNHNVTYAILFECVHTVYSIYPKSELLEKAAKCIGKFVLSPKI    281 - 350
NLKYLGLKALTYVIQQDPTLALQHQMTIIECLDHPDPIIKRETLELLYRITNAQNITVIVQKMLEYLHQS    351 - 420
KEEYVIVNLVGKIAELAEKYAPDNAWFIQTMNAVFSVGGDVMHPDIPNNFLRLLAEGFDDETEDQQLRLY    421 - 490
AVQSYLTLLDMENVFYPQRFLQVMSWVLGEYSYLLDKETPEEVIAKLYKLLMNDSVSSETKAWLIAAVTK    491 - 560
LTSQAHSSNTVERLIHEFTISLDTCMRQHAFELKHLHENVELMKSLLPVDRSCEDLVVDASLSFLDGFVA    561 - 630
EGLSQGAAPYKPPHQRQEEKLSQEKVLNFEPYGLSFSSSGFTGRQSPAGISLGSDVSGNSAETGLKETNS    631 - 700
LKLEGIKKLWGKEGYLPKKESKTGDESGALPVPQESIMENVDQAITKKDQSQVLTQSKEEKEKQLLASSL    701 - 770
FVGLGSESTINLLGKADTVSHKFRRKSKVKEAKSGETTSTHNMTCSSFSSLSNVAYEDDYYSNTLHDTGD    771 - 840
KELKKFSLTSELLDSESLTELPLVEKFSYCSLSTPSLFANNNMEIFHPPQSTAASVAKESSLASSFLEET    841 - 910
TEYIHSNAMEVCNNETISVSSYKIWKDDCLLMVWSVTNKSGLELKSADLEIFPAENFKVTEQPGCCLPVM    911 - 980
EAESTKSFQYSVQIEKPFTEGNLTGFISYHMMDTHSAQLEFSVNLSLLDFIRPLKISSDDFGKLWLSFAN    981 - 1050
DVKQNVKMSESQAALPSALKTLQQKLRLHIIEIIGNEGLLACQLLPSIPCLLHCRVHADVLALWFRSSCS   1051 - 1120
TLPDYLLYQCQKVMEGS                                                        1121 - 1137
//

Text Mined References (15)

PMID Year Title
26544806 2015 Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
26542808 2015 Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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