Property Summary

NCBI Gene PubMed Count 10
PubMed Score 23.85
PubTator Score 7.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count P-value
tuberculosis 1563 1.4e-06
psoriasis 6685 6.0e-03
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0
Disease Target Count Z-score Confidence
Isovaleric acidemia 14 3.657 1.8

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 1.100 6.0e-03
tuberculosis 1.100 1.4e-06

 GO Function (1)

Pathway (1)

Gene RIF (1)

PMID Text
24239382 We have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures.

AA Sequence

MMGEAAVAAGPCPLREDSFTRFSSQSNVYGLAGGAGGRGELLAATLKGKVLGFRYQDLRQKIRPVAKELQ      1 - 70
FNYIPVDAEIVSIDTFNKSPPKRGLVVGITFIKDSGDKGSPFLNIYCDYEPGSEYNLDSIAQSCLNLELQ     71 - 140
FTPFQLCHAEVQVGDQLETVFLLSGNDPAIHLYKENEGLHQFEEQPVENLFPELTNLTSSVLWLDVHNFP    141 - 210
GTSRRLSALGCQSGYVRVAHVDQRSREVLQMWSVLQDGPISRVIVFSLSAAKETKDRPLQDEYSVLVASM    211 - 280
LEPAVVYRDLLNRGLEDQLLLPGSDQFDSVLCSLVTDVDLDGRPEVLVATYGQELLCYKYRGPESGLPEA    281 - 350
QHGFHLLWQRSFSSPLLAMAHVDLTGDGLQELAVVSLKGVHILQHSLIQASELVLTRLRHQVEQRRRRLQ    351 - 420
GLEDGAGAGPAENAAS                                                          421 - 436
//

Text Mined References (12)

PMID Year Title
24239382 2014 Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11409409 2000 2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4.
10099934 1999 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
1372044 1992 An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells.