LOCUS       NM_001364502            2243 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens dipeptidyl peptidase like 6 (DPP6), transcript variant
            11, mRNA.
ACCESSION   NM_001364502
VERSION     NM_001364502.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2243)
  AUTHORS   Miah,M.M., Zinnia,M.A., Tabassum,N. and Islam,A.B.M.M.K.
  TITLE     Association between DPP6 gene rs10260404 polymorphism and increased
            risk of sporadic amyotrophic lateral sclerosis (sALS): a
            meta-analysis
  JOURNAL   Neurol Sci 45 (7), 3225-3243 (2024)
   PUBMED   38381392
  REMARK    GeneRIF: Association between DPP6 gene rs10260404 polymorphism and
            increased risk of sporadic amyotrophic lateral sclerosis (sALS): a
            meta-analysis.
REFERENCE   2  (bases 1 to 2243)
  AUTHORS   Naujock,M., Speidel,A., Fischer,S., Kizner,V., Dorner-Ciossek,C.
            and Gillardon,F.
  TITLE     Neuronal Differentiation of Induced Pluripotent Stem Cells from
            Schizophrenia Patients in Two-Dimensional and in Three-Dimensional
            Cultures Reveals Increased Expression of the Kv4.2 Subunit DPP6
            That Contributes to Decreased Neuronal Activity
  JOURNAL   Stem Cells Dev 29 (24), 1577-1587 (2020)
   PUBMED   33143549
  REMARK    GeneRIF: Neuronal Differentiation of Induced Pluripotent Stem Cells
            from Schizophrenia Patients in Two-Dimensional and in
            Three-Dimensional Cultures Reveals Increased Expression of the
            Kv4.2 Subunit DPP6 That Contributes to Decreased Neuronal Activity.
REFERENCE   3  (bases 1 to 2243)
  AUTHORS   Zhao,X., Cao,D., Ren,Z., Liu,Z., Lv,S., Zhu,J., Li,L., Lang,R. and
            He,Q.
  TITLE     Dipeptidyl peptidase like 6 promoter methylation is a potential
            prognostic biomarker for pancreatic ductal adenocarcinoma
  JOURNAL   Biosci Rep 40 (7) (2020)
   PUBMED   32701143
  REMARK    GeneRIF: Dipeptidyl peptidase like 6 promoter methylation is a
            potential prognostic biomarker for pancreatic ductal
            adenocarcinoma.
REFERENCE   4  (bases 1 to 2243)
  AUTHORS   Ji,C.C., Yao,F.J., Cheng,Y.J., Yao,H., Fan,J., Chen,X.M.,
            Zheng,Z.H., Dong,Y.G. and Wu,S.H.
  TITLE     A novel DPP6 variant in Chinese families causes early
            repolarization syndrome
  JOURNAL   Exp Cell Res 384 (1), 111561 (2019)
   PUBMED   31476289
  REMARK    GeneRIF: The slope of the activation curve of DPP6-L747P was
            slightly decreased.
REFERENCE   5  (bases 1 to 2243)
  AUTHORS   Cacace,R., Heeman,B., Van Mossevelde,S., De Roeck,A.,
            Hoogmartens,J., De Rijk,P., Gossye,H., De Vos,K., De Coster,W.,
            Strazisar,M., De Baets,G., Schymkowitz,J., Rousseau,F., Geerts,N.,
            De Pooter,T., Peeters,K., Sieben,A., Martin,J.J., Engelborghs,S.,
            Salmon,E., Santens,P., Vandenberghe,R., Cras,P., P De Deyn,P., C
            van Swieten,J., M van Duijn,C., van der Zee,J., Sleegers,K. and Van
            Broeckhoven,C.
  CONSRTM   BELNEU Consortium
  TITLE     Loss of DPP6 in neurodegenerative dementia: a genetic player in the
            dysfunction of neuronal excitability
  JOURNAL   Acta Neuropathol 137 (6), 901-918 (2019)
   PUBMED   30874922
  REMARK    GeneRIF: In an unresolved autosomal dominant dementia family
            significantly linked to 7q36, there was a chromosomal inversion of
            ca. 4 Mb, segregating on the disease haplotype and disrupting the
            coding sequence of DPP6. The missense variants found in patients
            destabilize DPP6 and reduce its membrane expression. DPP6 loss
            plays a in dementia.
REFERENCE   6  (bases 1 to 2243)
  AUTHORS   Nadal,M.S., Ozaita,A., Amarillo,Y., Vega-Saenz de Miera,E., Ma,Y.,
            Mo,W., Goldberg,E.M., Misumi,Y., Ikehara,Y., Neubert,T.A. and
            Rudy,B.
  TITLE     The CD26-related dipeptidyl aminopeptidase-like protein DPPX is a
            critical component of neuronal A-type K+ channels
  JOURNAL   Neuron 37 (3), 449-461 (2003)
   PUBMED   12575952
REFERENCE   7  (bases 1 to 2243)
  AUTHORS   Kin,Y., Misumi,Y. and Ikehara,Y.
  TITLE     Biosynthesis and characterization of the brain-specific membrane
            protein DPPX, a dipeptidyl peptidase IV-related protein
  JOURNAL   J Biochem 129 (2), 289-295 (2001)
   PUBMED   11173531
REFERENCE   8  (bases 1 to 2243)
  AUTHORS   Zhu,X.R., Wulf,A., Schwarz,M., Isbrandt,D. and Pongs,O.
  TITLE     Characterization of human Kv4.2 mediating a rapidly-inactivating
            transient voltage-sensitive K+ current
  JOURNAL   Recept Channels 6 (5), 387-400 (1999)
   PUBMED   10551270
REFERENCE   9  (bases 1 to 2243)
  AUTHORS   Yokotani,N., Doi,K., Wenthold,R.J. and Wada,K.
  TITLE     Non-conservation of a catalytic residue in a dipeptidyl
            aminopeptidase IV-related protein encoded by a gene on human
            chromosome 7
  JOURNAL   Hum Mol Genet 2 (7), 1037-1039 (1993)
   PUBMED   8103397
REFERENCE   10 (bases 1 to 2243)
  AUTHORS   Wada,K., Yokotani,N., Hunter,C., Doi,K., Wenthold,R.J. and
            Shimasaki,S.
  TITLE     Differential expression of two distinct forms of mRNA encoding
            members of a dipeptidyl aminopeptidase family
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 197-201 (1992)
   PUBMED   1729689
  REMARK    GeneRIF: Analysis of the differential expression of two distinct
            forms of mRNA for the cow and rat orthologs. Names the variants S
            and L.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099341.4, AC024730.7 and
            AC142230.3.
            
            On May 31, 2019 this sequence version replaced NM_001364502.1.
            
            Summary: This gene encodes a single-pass type II membrane protein
            that is a member of the peptidase S9B family of serine proteases.
            This protein has no detectable protease activity, most likely due
            to the absence of the conserved serine residue normally present in
            the catalytic domain of serine proteases. However, it does bind
            specific voltage-gated potassium channels and alters their
            expression and biophysical properties. Variations in this gene may
            be associated with susceptibility to amyotrophic lateral sclerosis
            and with idiopathic ventricular fibrillation. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Mar
            2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK308993.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2142586,
                                           SAMEA2145743 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-393               AC099341.4         43651-44043
            394-508             AC024730.7         127222-127336       c
            509-607             AC024730.7         98513-98611         c
            608-702             AC024730.7         32924-33018         c
            703-777             AC024730.7         6634-6708           c
            778-2243            AC142230.3         8242-9707
FEATURES             Location/Qualifiers
     source          1..2243
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.2"
     gene            1..2243
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /note="dipeptidyl peptidase like 6"
                     /db_xref="GeneID:1804"
                     /db_xref="HGNC:HGNC:3010"
                     /db_xref="MIM:126141"
     exon            1..393
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /inference="alignment:Splign:2.1.0"
     CDS             337..786
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /note="isoform 8 is encoded by transcript variant 11;
                     dipeptidyl aminopeptidase IV-related protein; dipeptidyl
                     peptidase IV-related protein; dipeptidyl
                     aminopeptidase-like protein 6; DPP VI; dipeptidyl
                     peptidase VI; dipeptidyl-peptidase 6; A-type potassium
                     channel modulatory protein DPP6"
                     /codon_start=1
                     /product="A-type potassium channel modulatory protein DPP6
                     isoform 8"
                     /protein_id="NP_001351431.1"
                     /db_xref="CCDS:CCDS94239.1"
                     /db_xref="GeneID:1804"
                     /db_xref="HGNC:HGNC:3010"
                     /db_xref="MIM:126141"
                     /translation="MTTAKEPSASGKSVQQQEQELVGSNPPQRNWKGIAIALLVILVI
                     CSLIVTSVILLTPAEDNSLSQKKKVTVEDLFSEDFKIHDPEAKWISDTEFIYREQKGT
                     VRLWNVETNTSTVLIEGKKIESLRAIRYEISPDREYALFSYNVEPGQ"
     exon            394..508
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /inference="alignment:Splign:2.1.0"
     exon            509..607
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /inference="alignment:Splign:2.1.0"
     exon            608..702
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /inference="alignment:Splign:2.1.0"
     exon            703..777
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /inference="alignment:Splign:2.1.0"
     exon            778..2243
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2211..2216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /note="hexamer: AATAAA"
     polyA_site      2243
                     /gene="DPP6"
                     /gene_synonym="DPL1; DPPX; MRD33; VF2"
                     /note="major polyA site"
ORIGIN      
        1 actcgggtcc ccttcctgca cccagccgcc acttgccggt tgctaagcag ttatcattgt
       61 ttctgtggcg attgcagagg ctgttgctaa ttggagaagc cccactaagc agcggcagct
      121 tcctgcttcg gatcctctct ctgctgcttg catttaaaga gcaaactcgt cttgtctacc
      181 caccctccct cccccatcct ccccaaaata gccttgtgat ttcggaagta tggactaaaa
      241 tcacactcct ccttacctta ccgcttggac tctggtggct cccaactcgc cgtcagaccc
      301 cacctgcccc ggtggtggga agcgcctgga cagaccatga ccacagccaa ggagccaagc
      361 gcttcgggga aatccgtgca gcagcaggaa caggagctgg tggggagtaa ccctccgcag
      421 aggaattgga aaggaatagc aattgcactg cttgtcattc tggtcatctg ctccttgatc
      481 gtcacctcgg tcatacttct gacaccagcg gaagataata gtctgtctca aaagaagaag
      541 gtcactgtag aagatctctt cagtgaagac ttcaaaattc atgaccccga ggctaagtgg
      601 ataagtgata cagaattcat ctacagagaa cagaaaggaa cagtgagact gtggaatgtt
      661 gaaacaaata cttctactgt cttaatagaa ggcaaaaaaa ttgaatcatt aagagccatc
      721 agatatgaaa tatctccaga tagagagtat gcactttttt catacaatgt ggaacccggt
      781 cagtgaacgc atgtcagctc tgcactcagt cctgctgcac ttcggtggac tctcaccaga
      841 ggtcaaaggc tatcagctca ctccttttgt ctgaccaatg ccttgggtgg ctgctctcat
      901 cctgacttga gctaaattgg gtgatctgcc tggagactta gaaccttatt cctcccccca
      961 accattccca ctgcctttgc cttgatctgg actcttctct cctcttgcca ggaccaatgc
     1021 tgccgctttc cacctgtcct tccctcctgt gcatcccaca cagcctgcag ctaagcatgg
     1081 ttctgagcaa gacacagctt catgcaaaat attgtacctc tgcttgaaga cccaatgtga
     1141 acattgccca ttgatttttg tttctcgatc cccaacttcc catgccccaa aatagcatcc
     1201 tgggaccata gaaatggaat tgagctttct aaaatgattc tgcccatctc ccactttaca
     1261 gatgaagaaa gtgaagtcca ggaagttgac attgcctcat tcaaaatcat gtgactcatt
     1321 agcagtaagt caagcctgta gcccagcttg tcaccagggc tgttttcttc attacatcac
     1381 catgtctctt cctcttcact gcctgcgtga ctatgtctcg gcagtcaatg gatacagcac
     1441 agcattgcca gcttgccatg tacaaggggg acctgtttca gatattccat ggagaccctg
     1501 gctggaggat tgcaggagag tcccaggagg caggactgcc aatggcacca ggcttcgcag
     1561 ccatgcacct gcagccctca ggcagcactg tccattgtca tacgagtgtg gcaggtgtga
     1621 ggcatcgcat ctgctcaccc cggggataat gcacagcagc tacaggcaga tttcgggcca
     1681 gagagcaacc gagtgagcct tgcagcctct gctgccagca caggcttgtt ccttcaacac
     1741 tggtggagag agacacgctg tcatcaggcc caagaaatac tgccttcccc atcctatccc
     1801 tggtcactgg gtgcccgcag agtgtcccag aggagggagg gagggaccct ccactggttc
     1861 aaatggcctg ttctcagaga tgcagcaatg gaccctcgtg aatactgaac tgataatcat
     1921 gggaaggaga ctggctctcc tggattccct catgattcct ctgagtgaca atgtgatgtt
     1981 ggccgactgt gtcttcttca gaatatcata tacacttgag gtctccagga gcctccaatt
     2041 acattatttt cctggctcat acagtgacaa gtaattctta tcctggattc ctcgttactg
     2101 agacttttct tgcctttttt gttagcttat gatttattct aggacttcct ccaacaggtt
     2161 atacttaact gtctacctca gtctctggaa gttttaaaaa tgttcagcta aataaaagaa
     2221 gtagattctc cctggaaacc aaa
//
