Gene_Locus Report

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Gene_locus Report for: human-DPP6

Homo sapiens (Human) (dipeptidylpeptidase VI) (dppx)

Comment
also called DPPX. Not to be confounded with DPP-10 (human-DPP10). Ventricular fibrillation, paroxysmal familial 2. Alders et al. (2009) identified a C-to-T transition 340 bases upstream from the ATG start site of the DPP6 gene (rs3807218). All 10 probands carried the same haplotype. The mutation was not present in a control group of 350 Dutch individuals of European descent. The mutation is associated with 20-fold increased expression in DPP6 mRNA levels in the myocardium of carriers as compared to controls. Gilles de la Tourette syndrome (GTS).DPP6 gene disruption in a family with Gilles de la Tourette syndrome (Prontera et al.2014 ) Evidence suggests that mutations in more than one gene can cause Gilles de la Tourette syndrome Mental retardation, autosomal dominant 33: A missense mutation in the DPP6 gene (M385L; 126141.0002) was identified in a family segregating microcephaly and autosomal dominant mental retardation.(Liao et al 2013). The dipeptidyl-aminopeptidase-like protein 6 is an integral voltage sensor-interacting beta-subunit of neuronal K(V)4.2 channels. Structures of the complex are available (Kise et al.)


Relationship
Family|DPP4N_Peptidase_S9
Block| X
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
5 mutations: Table (e.g. : 135kbDel_human-DPP6, 336kbDel_human-DPP6, 362kbDel_human-DPP6 ... more)
9 structures (e.g. : 1XFD, 7E87, 7E89... more)
No kinetic

Disease: Ventricular fibrillation, paroxysmal familial 2 - Gilles de la Tourette syndrome (GTS) - Mental retardation, autosomal dominant 33 -



No Substrate
No inhibitor
>3 Genbank links 10 more: M96859, M96860, AC073336
>3 UniProt links 3 more: P42658, Q75MF0, B7Z299
>3 Structure links 6 more: 7UKG, 7UKH, 7E8B
>3 UniProt links 3 more: Q75MF0, P42658, B7Z299
>3 Interpro links 3 more: Q75MF0, P42658, B7Z299
>3 Prodom links 3 more: Q75MF0, P42658, B7Z299
>3 Pfam links 3 more: Q75MF0, P42658, B7Z299
>3 PIRSF links 3 more: Q75MF0, P42658, B7Z299
>3 SUPERFAM links 3 more: Q75MF0, P42658, B7Z299
1 EntrezGene : 1804
1 SNP : 1804
1 UniGene : 490684
1 HUGO HGNC : 3010
2 OMIM : 126141, 612956
1 Ensembl : ENSG00000130226
Sequence
Graphical view for this peptide sequence: human-DPP6
Colored MSA for DPP4N_Peptidase_S9 (raw)
MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQA
AAPRERGGGGGGAGGRPRFQYQGRSDGDEEDELVGSNPPQRNWKGIAIAL
LVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKW
ISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREY
ALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPK
GQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKT
HIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSE
NPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLN
RAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIR
AIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKI
YFLSTEDLPRRRQLYSANTEGNFNRQCLSCDLVENCTYFSASFSHSMDFF
LLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIE
IDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMV
SSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQY
IDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYAS
AFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHT
AELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQ
DKLPTVTAKEDEEED
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MASLYQRFTGKINTSRSFPAPPEASHLLGGQGPEEDGGAGAKPLGPRAQA
AAPRERGGGGGGAGGRPRFQYQGRSDGDEEDELVGSNPPQRNWKGIAIAL
LVILVICSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKW
ISDTEFIYREQKGTVRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREY
ALFSYNVEPIYQHSYTGYYVLSKIPHGDPQSLDPPEVSNAKLQYAGWGPK
GQQLIFIFENNIYYCAHVGKQAIRVVSTGKEGVIYNGLSDWLYEEEILKT
HIAHWWSPDGTRLAYAAINDSRVPIMELPTYTGSIYPTVKPYHYPKAGSE
NPSISLHVIGLNGPTHDLEMMPPDDPRMREYYITMVKWATSTKVAVTWLN
RAQNVSILTLCDATTGVCTKKHEDESEAWLHRQNEEPVFSKDGRKFFFIR
AIPQGGRGKFYHITVSSSQPNSSNDNIQSITSGDWDVTKILAYDEKGNKI
YFLSTEDLPRRRQLYSANTEGNFNRQCLSCDLVENCTYFSASFSHSMDFF
LLKCEGPGVPMVTVHNTTDKKKMFDLETNEHVKKAINDRQMPKVEYRDIE
IDDYNLPMQILKPATFTDTTHYPLLLVVDGTPGSQSVAEKFEVSWETVMV
SSHGAVVVKCDGRGSGFQGTKLLHEVRRRLGLLEEKDQMEAVRTMLKEQY
IDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYAS
AFSERYLGLHGLDNRAYEMTKVAHRVSALEEQQFLIIHPTADEKIHFQHT
AELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQ
DKLPTVTAKEDEEED


References
24 more
    Title: Anti-dipeptidyl-peptidase-like protein 6 encephalitis with pure cerebellar ataxia: a case report
    Lin J, Zhu M, Mao X, Jin Z, Zhou M, Hong D
    Ref: BMC Neurol, 22:242, 2022 : PubMed

            

    Title: Neuronal Roles of the Multifunctional Protein Dipeptidyl Peptidase-like 6 (DPP6)
    Malloy C, Ahern M, Lin L, Hoffman DA
    Ref: Int J Mol Sci, 23:, 2022 : PubMed

            

    Title: Structural basis of gating modulation of Kv4 channel complexes
    Kise Y, Kasuya G, Okamoto HH, Yamanouchi D, Kobayashi K, Kusakizako T, Nishizawa T, Nakajo K, Nureki O
    Ref: Nature, :, 2021 : PubMed

            


Other Papers


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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