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P42658

- DPP6_HUMAN

UniProt

P42658 - DPP6_HUMAN

Protein

Dipeptidyl aminopeptidase-like protein 6

Gene

DPP6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (16 Dec 2008)
      Previous versions | rss
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    Functioni

    May be involved in the physiological processes of brain function. Has no dipeptidyl aminopeptidase activity. May modulate the cell surface expression and the activity of the potassium channel KCND2.1 Publication

    GO - Molecular functioni

    1. dipeptidyl-peptidase activity Source: ProtInc
    2. serine-type peptidase activity Source: InterPro

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. neuronal action potential Source: Ensembl
    3. regulation of potassium ion transport Source: Ensembl

    Protein family/group databases

    MEROPSiS09.973.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dipeptidyl aminopeptidase-like protein 6
    Alternative name(s):
    DPPX
    Dipeptidyl aminopeptidase-related protein
    Dipeptidyl peptidase 6
    Dipeptidyl peptidase IV-like protein
    Dipeptidyl peptidase VI
    Short name:
    DPP VI
    Gene namesi
    Name:DPP6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:3010. DPP6.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Familial paroxysmal ventricular fibrillation 2 (VF2) [MIM:612956]: A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. A genetic variation 340 bases upstream from the ATG start site of the DPP6 gene is the cause of familial paroxysmal ventricular fibrillation type 2.

    Keywords - Diseasei

    Neurodegeneration

    Organism-specific databases

    MIMi612956. phenotype.
    Orphaneti2514. Autosomal dominant microcephaly.
    228140. Idiopathic ventricular fibrillation, not Brugada type.
    PharmGKBiPA27468.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 865865Dipeptidyl aminopeptidase-like protein 6PRO_0000122409Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi173 – 1731N-linked (GlcNAc...)1 Publication
    Glycosylationi319 – 3191N-linked (GlcNAc...)1 Publication
    Glycosylationi404 – 4041N-linked (GlcNAc...)1 Publication
    Disulfide bondi411 ↔ 4181 Publication
    Glycosylationi471 – 4711N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi527 ↔ 5301 Publication
    Glycosylationi535 – 5351N-linked (GlcNAc...)1 Publication
    Disulfide bondi536 ↔ 5541 Publication
    Glycosylationi566 – 5661N-linked (GlcNAc...)1 Publication
    Disulfide bondi735 ↔ 8461 Publication
    Glycosylationi813 – 8131N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP42658.
    PRIDEiP42658.

    PTM databases

    PhosphoSiteiP42658.

    Expressioni

    Tissue specificityi

    Expressed predominantly in brain.

    Gene expression databases

    ArrayExpressiP42658.
    BgeeiP42658.
    CleanExiHS_DPP6.
    GenevestigatoriP42658.

    Organism-specific databases

    HPAiHPA050509.

    Interactioni

    Subunit structurei

    Homodimer. Binds KCND2.1 Publication

    Protein-protein interaction databases

    BioGridi108138. 1 interaction.
    IntActiP42658. 1 interaction.
    STRINGi9606.ENSP00000367001.

    Structurei

    Secondary structure

    1
    865
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi133 – 1364
    Turni139 – 1413
    Beta strandi150 – 1545
    Beta strandi161 – 1633
    Beta strandi165 – 1684
    Helixi170 – 1723
    Beta strandi176 – 1794
    Turni181 – 1888
    Beta strandi190 – 1945
    Beta strandi198 – 2069
    Beta strandi211 – 2133
    Beta strandi217 – 22610
    Beta strandi254 – 2585
    Beta strandi261 – 27010
    Beta strandi273 – 2764
    Turni281 – 2833
    Beta strandi284 – 2885
    Helixi291 – 2955
    Beta strandi298 – 3069
    Beta strandi310 – 31910
    Beta strandi325 – 3284
    Beta strandi332 – 3365
    Beta strandi340 – 3434
    Beta strandi353 – 36412
    Helixi376 – 3783
    Beta strandi379 – 40022
    Beta strandi405 – 4128
    Turni413 – 4153
    Beta strandi418 – 4258
    Beta strandi445 – 4528
    Beta strandi455 – 4584
    Beta strandi460 – 4667
    Beta strandi472 – 4743
    Beta strandi483 – 4853
    Beta strandi487 – 4948
    Turni495 – 4984
    Beta strandi499 – 5079
    Beta strandi513 – 5175
    Beta strandi532 – 5354
    Beta strandi540 – 5434
    Beta strandi547 – 5537
    Beta strandi556 – 5594
    Beta strandi562 – 5665
    Turni567 – 5693
    Beta strandi572 – 5776
    Helixi580 – 5878
    Beta strandi599 – 6013
    Beta strandi604 – 6063
    Beta strandi609 – 6124
    Beta strandi618 – 6203
    Beta strandi622 – 6276
    Helixi645 – 6517
    Beta strandi656 – 6583
    Beta strandi666 – 6683
    Helixi669 – 6746
    Turni675 – 6784
    Turni680 – 6823
    Helixi683 – 69614
    Beta strandi697 – 71115
    Helixi713 – 7208
    Beta strandi725 – 7273
    Beta strandi734 – 7407
    Beta strandi747 – 7493
    Helixi750 – 7578
    Turni767 – 7704
    Helixi773 – 7764
    Beta strandi783 – 7897
    Beta strandi793 – 7953
    Helixi797 – 80913
    Beta strandi815 – 8195
    Helixi829 – 84315
    Turni844 – 8474

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1XFDX-ray3.00A/B/C/D127-849[»]
    ProteinModelPortaliP42658.
    SMRiP42658. Positions 127-849.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP42658.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 9595CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini117 – 865749ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei96 – 11621Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the peptidase S9B family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1506.
    HOGENOMiHOG000231875.
    HOVERGENiHBG105877.
    InParanoidiP42658.
    OMAiSCDLVEN.
    PhylomeDBiP42658.
    TreeFamiTF313309.

    Family and domain databases

    Gene3Di2.140.10.30. 1 hit.
    3.40.50.1820. 1 hit.
    InterProiIPR029058. AB_hydrolase.
    IPR001375. Peptidase_S9.
    IPR002469. Peptidase_S9B.
    [Graphical view]
    PfamiPF00930. DPPIV_N. 1 hit.
    PF00326. Peptidase_S9. 1 hit.
    [Graphical view]
    SUPFAMiSSF53474. SSF53474. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform DPPX-L (identifier: P42658-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MASLYQRFTG KINTSRSFPA PPEASHLLGG QGPEEDGGAG AKPLGPRAQA    50
    AAPRERGGGG GGAGGRPRFQ YQARSDGDEE DELVGSNPPQ RNWKGIAIAL 100
    LVILVICSLI VTSVILLTPA EDNSLSQKKK VTVEDLFSED FKIHDPEAKW 150
    ISDTEFIYRE QKGTVRLWNV ETNTSTVLIE GKKIESLRAI RYEISPDREY 200
    ALFSYNVEPI YQHSYTGYYV LSKIPHGDPQ SLDPPEVSNA KLQYAGWGPK 250
    GQQLIFIFEN NIYYCAHVGK QAIRVVSTGK EGVIYNGLSD WLYEEEILKT 300
    HIAHWWSPDG TRLAYAAIND SRVPIMELPT YTGSIYPTVK PYHYPKAGSE 350
    NPSISLHVIG LNGPTHDLEM MPPDDPRMRE YYITMVKWAT STKVAVTWLN 400
    RAQNVSILTL CDATTGVCTK KHEDESEAWL HRQNEEPVFS KDGRKFFFIR 450
    AIPQGGRGKF YHITVSSSQP NSSNDNIQSI TSGDWDVTKI LAYDEKGNKI 500
    YFLSTEDLPR RRQLYSANTV GNFNRQCLSC DLVENCTYFS ASFSHSMDFF 550
    LLKCEGPGVP MVTVHNTTDK KKMFDLETNE HVKKAINDRQ MPKVEYRDIE 600
    IDDYNLPMQI LKPATFTDTT HYPLLLVVDG TPGSQSVAEK FEVSWETVMV 650
    SSHGAVVVKC DGRGSGFQGT KLLHEVRRRL GLLEEKDQME AVRTMLKEQY 700
    IDRTRVAVFG KDYGGYLSTY ILPAKGENQG QTFTCGSALS PITDFKLYAS 750
    AFSERYLGLH GLDNRAYEMT KVAHRVSALE EQQFLIIHPT ADEKIHFQHT 800
    AELITQLIRG KANYSLQIYP DESHYFTSSS LKQHLYRSII NFFVECFRIQ 850
    DKLLTVTAKE DEEED 865
    Length:865
    Mass (Da):97,588
    Last modified:December 16, 2008 - v2
    Checksum:iD3E654013F19D951
    GO
    Isoform DPPX-S (identifier: P42658-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-81: MASLYQRFTG...QARSDGDEED → MTTAKEPSASGKSVQQQEQ

    Show »
    Length:803
    Mass (Da):91,341
    Checksum:iECBC607A432CE82C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti73 – 731A → G in AAA35760. (PubMed:8103397)Curated
    Sequence conflicti520 – 5201V → E in AAA35760. (PubMed:8103397)Curated
    Sequence conflicti520 – 5201V → E in AAA35761. (PubMed:8103397)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti854 – 8541L → P.1 Publication
    Corresponds to variant rs3734960 [ dbSNP | Ensembl ].
    VAR_051579

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8181MASLY…GDEED → MTTAKEPSASGKSVQQQEQ in isoform DPPX-S. 1 PublicationVSP_005365Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M96859 mRNA. Translation: AAA35760.1.
    M96860 mRNA. Translation: AAA35761.1.
    AC006019 Genomic DNA. No translation available.
    AC024239 Genomic DNA. No translation available.
    AC024730 Genomic DNA. No translation available.
    AC073336 Genomic DNA. No translation available.
    PIRiI54331.
    I68600.
    RefSeqiNP_570629.2. NM_130797.3. [P42658-1]
    UniGeneiHs.490684.
    Hs.551097.
    Hs.669076.
    Hs.703229.

    Genome annotation databases

    EnsembliENST00000332007; ENSP00000328226; ENSG00000130226. [P42658-2]
    ENST00000377770; ENSP00000367001; ENSG00000130226. [P42658-1]
    GeneIDi1804.
    KEGGihsa:1804.
    UCSCiuc003wlk.3. human. [P42658-1]
    uc003wlm.3. human. [P42658-2]

    Polymorphism databases

    DMDMi218512016.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M96859 mRNA. Translation: AAA35760.1 .
    M96860 mRNA. Translation: AAA35761.1 .
    AC006019 Genomic DNA. No translation available.
    AC024239 Genomic DNA. No translation available.
    AC024730 Genomic DNA. No translation available.
    AC073336 Genomic DNA. No translation available.
    PIRi I54331.
    I68600.
    RefSeqi NP_570629.2. NM_130797.3. [P42658-1 ]
    UniGenei Hs.490684.
    Hs.551097.
    Hs.669076.
    Hs.703229.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1XFD X-ray 3.00 A/B/C/D 127-849 [» ]
    ProteinModelPortali P42658.
    SMRi P42658. Positions 127-849.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108138. 1 interaction.
    IntActi P42658. 1 interaction.
    STRINGi 9606.ENSP00000367001.

    Protein family/group databases

    MEROPSi S09.973.

    PTM databases

    PhosphoSitei P42658.

    Polymorphism databases

    DMDMi 218512016.

    Proteomic databases

    PaxDbi P42658.
    PRIDEi P42658.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000332007 ; ENSP00000328226 ; ENSG00000130226 . [P42658-2 ]
    ENST00000377770 ; ENSP00000367001 ; ENSG00000130226 . [P42658-1 ]
    GeneIDi 1804.
    KEGGi hsa:1804.
    UCSCi uc003wlk.3. human. [P42658-1 ]
    uc003wlm.3. human. [P42658-2 ]

    Organism-specific databases

    CTDi 1804.
    GeneCardsi GC07P153584.
    H-InvDB HIX0020629.
    HGNCi HGNC:3010. DPP6.
    HPAi HPA050509.
    MIMi 126141. gene.
    612956. phenotype.
    neXtProti NX_P42658.
    Orphaneti 2514. Autosomal dominant microcephaly.
    228140. Idiopathic ventricular fibrillation, not Brugada type.
    PharmGKBi PA27468.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1506.
    HOGENOMi HOG000231875.
    HOVERGENi HBG105877.
    InParanoidi P42658.
    OMAi SCDLVEN.
    PhylomeDBi P42658.
    TreeFami TF313309.

    Miscellaneous databases

    ChiTaRSi DPP6. human.
    EvolutionaryTracei P42658.
    GeneWikii DPP6.
    GenomeRNAii 1804.
    NextBioi 7349.
    PROi P42658.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P42658.
    Bgeei P42658.
    CleanExi HS_DPP6.
    Genevestigatori P42658.

    Family and domain databases

    Gene3Di 2.140.10.30. 1 hit.
    3.40.50.1820. 1 hit.
    InterProi IPR029058. AB_hydrolase.
    IPR001375. Peptidase_S9.
    IPR002469. Peptidase_S9B.
    [Graphical view ]
    Pfami PF00930. DPPIV_N. 1 hit.
    PF00326. Peptidase_S9. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53474. SSF53474. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Non-conservation of a catalytic residue in a dipeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7."
      Yokotani N., Doi K., Wenthold R.J., Wada K.
      Hum. Mol. Genet. 2:1037-1039(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS DPPX-L AND DPPX-S), VARIANT PRO-854.
      Tissue: Hippocampus.
    2. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ALS.
    4. "Genetics. The elusive ALS genes."
      Garber K.
      Science 319:20-20(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISCUSSION OF THE INVOLVEMENT IN SUSCEPTIBILITY TO ALS.
    5. "Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation."
      Alders M., Koopmann T.T., Christiaans I., Postema P.G., Beekman L., Tanck M.W., Zeppenfeld K., Loh P., Koch K.T., Demolombe S., Mannens M.M., Bezzina C.R., Wilde A.A.
      Am. J. Hum. Genet. 84:468-476(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN VF2.
    6. "Structure of a human A-type potassium channel interacting protein DPPX, a member of the dipeptidyl aminopeptidase family."
      Strop P., Bankovich A.J., Hansen K.C., Garcia K.C., Brunger A.T.
      J. Mol. Biol. 343:1055-1065(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 127-849, FUNCTION, SUBUNIT, DISULFIDE BONDS, GLYCOSYLATION AT ASN-173; ASN-319; ASN-404; ASN-535; ASN-566 AND ASN-813.

    Entry informationi

    Entry nameiDPP6_HUMAN
    AccessioniPrimary (citable) accession number: P42658
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: December 16, 2008
    Last modified: October 1, 2014
    This is version 130 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Genetic variation in DPP6 may influence susceptibility to amyotrophic lateral sclerosis (ALS). ALS is a severely disabling and lethal disorder caused by progressive degeneration of motor neurons in the brain, spinal cord and brainstem.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Peptidase families
      Classification of peptidase families and list of entries
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3