Details for: KPTN

Gene ID: 11133

Symbol: KPTN

Ensembl ID: ENSG00000118162

Description: kaptin, actin binding protein

Associated with

Other Information

Genular Protein ID: 2625024684

Symbol: KPTN_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9Y664 B3KN86 B4DQ76 Q96GT1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 11 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1372044

Title: An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells.

PubMed ID: 1372044

DOI: 10.1523/jneurosci.12-03-00750.1992

PubMed ID: 10099934

Title: 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear.

PubMed ID: 10099934

DOI: 10.1016/s0171-9335(99)80013-2

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 28199306

Title: KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.

PubMed ID: 28199306

DOI: 10.1038/nature21423

PubMed ID: 24239382

Title: Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.

PubMed ID: 24239382

DOI: 10.1016/j.ajhg.2013.10.001

Sequence Information:

  • Length: 436
  • Mass: 48080
  • Checksum: 128C0D87C0850E8E
  • Sequence:
    • MMGEAAVAAG PCPLREDSFT RFSSQSNVYG LAGGAGGRGE LLAATLKGKV LGFRYQDLRQ 
KIRPVAKELQ FNYIPVDAEI VSIDTFNKSP PKRGLVVGIT FIKDSGDKGS PFLNIYCDYE 
PGSEYNLDSI AQSCLNLELQ FTPFQLCHAE VQVGDQLETV FLLSGNDPAI HLYKENEGLH 
QFEEQPVENL FPELTNLTSS VLWLDVHNFP GTSRRLSALG CQSGYVRVAH VDQRSREVLQ 
MWSVLQDGPI SRVIVFSLSA AKETKDRPLQ DEYSVLVASM LEPAVVYRDL LNRGLEDQLL 
LPGSDQFDSV LCSLVTDVDL DGRPEVLVAT YGQELLCYKY RGPESGLPEA QHGFHLLWQR 
SFSSPLLAMA HVDLTGDGLQ ELAVVSLKGV HILQHSLIQA SELVLTRLRH QVEQRRRRLQ 
GLEDGAGAGP AENAAS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.