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Q7Z5Y7

- KCD20_HUMAN

UniProt

Q7Z5Y7 - KCD20_HUMAN

Protein

BTB/POZ domain-containing protein KCTD20

Gene

KCTD20

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. protein homooligomerization Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    BTB/POZ domain-containing protein KCTD20
    Gene namesi
    Name:KCTD20
    Synonyms:C6orf69
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21052. KCTD20.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134913479.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 419419BTB/POZ domain-containing protein KCTD20PRO_0000255248Add
    BLAST

    Proteomic databases

    MaxQBiQ7Z5Y7.
    PaxDbiQ7Z5Y7.
    PRIDEiQ7Z5Y7.

    PTM databases

    PhosphoSiteiQ7Z5Y7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7Z5Y7.
    BgeeiQ7Z5Y7.
    CleanExiHS_KCTD20.
    GenevestigatoriQ7Z5Y7.

    Organism-specific databases

    HPAiHPA030092.

    Interactioni

    Subunit structurei

    Part of a complex containing MARK4.

    Protein-protein interaction databases

    BioGridi128809. 5 interactions.
    IntActiQ7Z5Y7. 2 interactions.
    STRINGi9606.ENSP00000362836.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z5Y7.
    SMRiQ7Z5Y7. Positions 116-208.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini117 – 19175BTBAdd
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.Curated

    Phylogenomic databases

    eggNOGiNOG309152.
    HOGENOMiHOG000261659.
    HOVERGENiHBG059410.
    InParanoidiQ7Z5Y7.
    OMAiDYASQPA.
    OrthoDBiEOG78M01S.
    PhylomeDBiQ7Z5Y7.
    TreeFamiTF314369.

    Family and domain databases

    Gene3Di3.30.710.10. 1 hit.
    InterProiIPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR003131. T1-type_BTB.
    [Graphical view]
    PfamiPF02214. BTB_2. 1 hit.
    [Graphical view]
    SMARTiSM00225. BTB. 1 hit.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z5Y7-1) [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

    MNVHRGSDSD RLLRQEASCL VDDTLAVAQE KEANSLASSG PHNLTYPLGP    50
    RNEDLSLDYA SQPANLQFPH IMPLAEDIKG SCFQSGNKRN HEPFIAPERF 100
    GNSSVGFGSN SHSQAPEKVT LLVDGTRFVV NPQIFTAHPD TMLGRMFGPG 150
    REYNFTRPNE KGEYEIAEGI SATVFRTVLD YYKTGIINCP DGISIPDLRD 200
    TCDYLCINFD FNTIRCQDLS ALLHELSNDG AHKQFDHYLE ELILPIMVGC 250
    AKKGERECHI VVLTDEDSVD WDEDHPPPMG EEYSQILYSS KLYRFFKYIE 300
    NRDVAKTVLK ERGLKNIRIG IEGYPTCKEK IKRRPGGRSE VIYNYVQRPF 350
    IQMSWEKEEG KSRHVDFQCV RSKSLTNLVA AGDDVLEDQE ILMHHPPQVD 400
    ELDRLNAPLS QMASNDFQD 419
    Length:419
    Mass (Da):47,480
    Last modified:October 1, 2003 - v1
    Checksum:i71B5D35EA02714EC
    GO
    Isoform 2 (identifier: Q7Z5Y7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         54-54: D → G
         55-220: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:253
    Mass (Da):28,892
    Checksum:iFD685CD0E4995090
    GO
    Isoform 3 (identifier: Q7Z5Y7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-145: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:274
    Mass (Da):31,669
    Checksum:i6C4ABB9B0D986630
    GO

    Sequence cautioni

    The sequence CAH72192.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI19118.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 701H → R in CAH10583. (PubMed:17974005)Curated
    Sequence conflicti205 – 2051L → P in CAH10583. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti171 – 1711S → T.1 Publication
    Corresponds to variant rs2239808 [ dbSNP | Ensembl ].
    VAR_028854

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 145145Missing in isoform 3. 1 PublicationVSP_055669Add
    BLAST
    Alternative sequencei54 – 541D → G in isoform 2. 1 PublicationVSP_021277
    Alternative sequencei55 – 220166Missing in isoform 2. 1 PublicationVSP_021278Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY305862 mRNA. Translation: AAP74385.1.
    AK302861 mRNA. Translation: BAG64045.1.
    AK304377 mRNA. Translation: BAG65215.1.
    AL136135, Z85986 Genomic DNA. Translation: CAH72192.1. Sequence problems.
    Z85986, AL136135 Genomic DNA. Translation: CAI19118.1. Sequence problems.
    CH471081 Genomic DNA. Translation: EAX03892.1.
    BC023525 mRNA. Translation: AAH23525.1.
    AL832381 mRNA. Translation: CAH10583.1.
    CCDSiCCDS4821.1. [Q7Z5Y7-1]
    CCDS69096.1. [Q7Z5Y7-2]
    RefSeqiNP_001273508.1. NM_001286579.1. [Q7Z5Y7-2]
    NP_001273509.1. NM_001286580.1.
    NP_775833.2. NM_173562.4. [Q7Z5Y7-1]
    XP_005248997.1. XM_005248940.2. [Q7Z5Y7-1]
    XP_006715086.1. XM_006715023.1. [Q7Z5Y7-1]
    UniGeneiHs.188757.

    Genome annotation databases

    EnsembliENST00000373731; ENSP00000362836; ENSG00000112078. [Q7Z5Y7-1]
    ENST00000449081; ENSP00000412205; ENSG00000112078. [Q7Z5Y7-2]
    ENST00000536244; ENSP00000439118; ENSG00000112078. [Q7Z5Y7-3]
    GeneIDi222658.
    KEGGihsa:222658.
    UCSCiuc003ome.3. human. [Q7Z5Y7-1]
    uc010jwk.3. human. [Q7Z5Y7-2]

    Polymorphism databases

    DMDMi74750149.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY305862 mRNA. Translation: AAP74385.1 .
    AK302861 mRNA. Translation: BAG64045.1 .
    AK304377 mRNA. Translation: BAG65215.1 .
    AL136135 , Z85986 Genomic DNA. Translation: CAH72192.1 . Sequence problems.
    Z85986 , AL136135 Genomic DNA. Translation: CAI19118.1 . Sequence problems.
    CH471081 Genomic DNA. Translation: EAX03892.1 .
    BC023525 mRNA. Translation: AAH23525.1 .
    AL832381 mRNA. Translation: CAH10583.1 .
    CCDSi CCDS4821.1. [Q7Z5Y7-1 ]
    CCDS69096.1. [Q7Z5Y7-2 ]
    RefSeqi NP_001273508.1. NM_001286579.1. [Q7Z5Y7-2 ]
    NP_001273509.1. NM_001286580.1.
    NP_775833.2. NM_173562.4. [Q7Z5Y7-1 ]
    XP_005248997.1. XM_005248940.2. [Q7Z5Y7-1 ]
    XP_006715086.1. XM_006715023.1. [Q7Z5Y7-1 ]
    UniGenei Hs.188757.

    3D structure databases

    ProteinModelPortali Q7Z5Y7.
    SMRi Q7Z5Y7. Positions 116-208.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128809. 5 interactions.
    IntActi Q7Z5Y7. 2 interactions.
    STRINGi 9606.ENSP00000362836.

    PTM databases

    PhosphoSitei Q7Z5Y7.

    Polymorphism databases

    DMDMi 74750149.

    Proteomic databases

    MaxQBi Q7Z5Y7.
    PaxDbi Q7Z5Y7.
    PRIDEi Q7Z5Y7.

    Protocols and materials databases

    DNASUi 222658.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373731 ; ENSP00000362836 ; ENSG00000112078 . [Q7Z5Y7-1 ]
    ENST00000449081 ; ENSP00000412205 ; ENSG00000112078 . [Q7Z5Y7-2 ]
    ENST00000536244 ; ENSP00000439118 ; ENSG00000112078 . [Q7Z5Y7-3 ]
    GeneIDi 222658.
    KEGGi hsa:222658.
    UCSCi uc003ome.3. human. [Q7Z5Y7-1 ]
    uc010jwk.3. human. [Q7Z5Y7-2 ]

    Organism-specific databases

    CTDi 222658.
    GeneCardsi GC06P036410.
    HGNCi HGNC:21052. KCTD20.
    HPAi HPA030092.
    neXtProti NX_Q7Z5Y7.
    PharmGKBi PA134913479.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309152.
    HOGENOMi HOG000261659.
    HOVERGENi HBG059410.
    InParanoidi Q7Z5Y7.
    OMAi DYASQPA.
    OrthoDBi EOG78M01S.
    PhylomeDBi Q7Z5Y7.
    TreeFami TF314369.

    Miscellaneous databases

    GenomeRNAii 222658.
    NextBioi 91647.
    PROi Q7Z5Y7.

    Gene expression databases

    ArrayExpressi Q7Z5Y7.
    Bgeei Q7Z5Y7.
    CleanExi HS_KCTD20.
    Genevestigatori Q7Z5Y7.

    Family and domain databases

    Gene3Di 3.30.710.10. 1 hit.
    InterProi IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR003131. T1-type_BTB.
    [Graphical view ]
    Pfami PF02214. BTB_2. 1 hit.
    [Graphical view ]
    SMARTi SM00225. BTB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Huang C.Q., Chen Z., Wu S.L., Shan Y.X., Liu S., Xiao P.J.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT THR-171.
      Tissue: Trachea.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 34-419 (ISOFORM 1).
      Tissue: Skeletal muscle.
    7. "Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network."
      Brajenovic M., Joberty G., Kuster B., Bouwmeester T., Drewes G.
      J. Biol. Chem. 279:12804-12811(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MARK4.

    Entry informationi

    Entry nameiKCD20_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z5Y7
    Secondary accession number(s): B4DZD3
    , B4E2Q3, F5H3T3, Q5W105, Q69YQ7, Q8IZ55
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: October 1, 2003
    Last modified: October 1, 2014
    This is version 87 of the entry and version 1 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3