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Q6ZSB9

- ZBT49_HUMAN

UniProt

Q6ZSB9 - ZBT49_HUMAN

Protein

Zinc finger and BTB domain-containing protein 49

Gene

ZBTB49

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    May be involved in transcriptional regulation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri395 – 41723C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri423 – 44523C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri451 – 47323C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri479 – 50123C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri507 – 52923C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri535 – 55723C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri563 – 58523C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: UniProtKB-KW
    2. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger and BTB domain-containing protein 49
    Alternative name(s):
    Zinc finger protein 509
    Gene namesi
    Name:ZBTB49
    Synonyms:ZNF509
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:19883. ZBTB49.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165664822.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 765765Zinc finger and BTB domain-containing protein 49PRO_0000047626Add
    BLAST

    Proteomic databases

    PaxDbiQ6ZSB9.
    PRIDEiQ6ZSB9.

    PTM databases

    PhosphoSiteiQ6ZSB9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6ZSB9.
    BgeeiQ6ZSB9.
    CleanExiHS_ZNF509.
    GenevestigatoriQ6ZSB9.

    Organism-specific databases

    HPAiHPA024450.

    Interactioni

    Protein-protein interaction databases

    BioGridi127934. 3 interactions.
    IntActiQ6ZSB9. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZSB9.
    SMRiQ6ZSB9. Positions 7-119, 362-585.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini25 – 9167BTBPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
    Contains 7 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri395 – 41723C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri423 – 44523C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri451 – 47323C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri479 – 50123C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri507 – 52923C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri535 – 55723C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri563 – 58523C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000140405.
    HOVERGENiHBG061540.
    InParanoidiQ6ZSB9.
    OMAiCTELPFK.
    OrthoDBiEOG7KWSH5.
    PhylomeDBiQ6ZSB9.
    TreeFamiTF330993.

    Family and domain databases

    Gene3Di2.30.30.20. 1 hit.
    3.30.160.60. 7 hits.
    3.30.710.10. 1 hit.
    InterProiIPR020542. Asp_carbamoyltrfase_reg_C.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF00651. BTB. 1 hit.
    [Graphical view]
    SMARTiSM00225. BTB. 1 hit.
    SM00355. ZnF_C2H2. 7 hits.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 7 hits.
    PS50157. ZINC_FINGER_C2H2_2. 7 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ZSB9-1) [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

    MDPVATHSCH LLQQLHEQRI QGLLCDCMLV VKGVCFKAHK NVLAAFSQYF    50
    RSLFQNSSSQ KNDVFHLDVK NVSGIGQILD FMYTSHLDLN QDNIQVMLDT 100
    AQCLQVQNVL SLCHTFLKSA TVVQPPGMPC NSTLSLQSTL TPDATCVISE 150
    NYPPHLLQEC SADAQQNKTL DESHPHASPS VNRHHSAGEI SKQAPDTSDG 200
    SCTELPFKQP NYYYKLRNFY SKQYHKHAAG PSQERVVEQP FAFSTSTDLT 250
    TVESQPCAVS HSECILESPE HLPSNFLAQP VNDSAPHPES DATCQQPVKQ 300
    MRLKKAIHLK KLNFLKSQKY AEQVSEPKSD DGLTKRLESA SKNTLEKASS 350
    QSAEEKESEE VVSCENFNCI SETERPEDPA ALEDQSQTLQ SQRQYACELC 400
    GKPFKHPSNL ELHKRSHTGE KPFECNICGK HFSQAGNLQT HLRRHSGEKP 450
    YICEICGKRF AASGDVQRHI IIHSGEKPHL CDICGRGFSN FSNLKEHKKT 500
    HTADKVFTCD ECGKSFNMQR KLVKHRIRHT GERPYSCSAC GKCFGGSGDL 550
    RRHVRTHTGE KPYTCEICNK CFTRSAVLRR HKKMHCKAGD ESPDVLEELS 600
    QAIETSDLEK SQSSDSFSQD TSVTLMPVSV KLPVHPVENS VAEFDSHSGG 650
    SYCKLRSMIQ PHGVSDQEKL SLDPGKLAKP QMQQTQPQAY AYSDVDTPAG 700
    GEPLQADGMA MIRSSLAALD NHGGDPLGSR ASSTTYRNSE GQFFSSMTLW 750
    GLAMKTLQNE NELDQ 765
    Length:765
    Mass (Da):85,061
    Last modified:May 18, 2010 - v3
    Checksum:i287EC40D48764399
    GO
    Isoform 2 (identifier: Q6ZSB9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         419-540: Missing.

    Show »
    Length:643
    Mass (Da):71,222
    Checksum:iE79A7A702A0B4CED
    GO

    Sequence cautioni

    The sequence AAH16477.1 differs from that shown. Reason: Erroneous termination at position 372. Translated as Glu.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti449 – 4491K → E in BAC87035. (PubMed:14702039)Curated
    Sequence conflicti506 – 5061V → I in BAC87035. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti320 – 3201Y → S.
    Corresponds to variant rs2920217 [ dbSNP | Ensembl ].
    VAR_057422
    Natural varianti348 – 3481A → T.
    Corresponds to variant rs4689254 [ dbSNP | Ensembl ].
    VAR_057423
    Natural varianti642 – 6421A → V.1 Publication
    Corresponds to variant rs34293093 [ dbSNP | Ensembl ].
    VAR_057424

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei419 – 540122Missing in isoform 2. 1 PublicationVSP_016343Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK127560 mRNA. Translation: BAC87035.1.
    AC011744 Genomic DNA. No translation available.
    AC105415 Genomic DNA. No translation available.
    BC016477 mRNA. Translation: AAH16477.1. Sequence problems.
    BC089401 mRNA. Translation: AAH89401.1.
    AB209466 Transcribed RNA. Translation: BAD92703.1.
    CCDSiCCDS3375.1. [Q6ZSB9-1]
    RefSeqiNP_660334.3. NM_145291.3. [Q6ZSB9-1]
    XP_006713927.1. XM_006713864.1. [Q6ZSB9-1]
    UniGeneiHs.419997.

    Genome annotation databases

    EnsembliENST00000337872; ENSP00000338807; ENSG00000168826. [Q6ZSB9-1]
    GeneIDi166793.
    KEGGihsa:166793.
    UCSCiuc003ghu.3. human. [Q6ZSB9-1]
    uc010icz.3. human. [Q6ZSB9-2]

    Polymorphism databases

    DMDMi296453078.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK127560 mRNA. Translation: BAC87035.1 .
    AC011744 Genomic DNA. No translation available.
    AC105415 Genomic DNA. No translation available.
    BC016477 mRNA. Translation: AAH16477.1 . Sequence problems.
    BC089401 mRNA. Translation: AAH89401.1 .
    AB209466 Transcribed RNA. Translation: BAD92703.1 .
    CCDSi CCDS3375.1. [Q6ZSB9-1 ]
    RefSeqi NP_660334.3. NM_145291.3. [Q6ZSB9-1 ]
    XP_006713927.1. XM_006713864.1. [Q6ZSB9-1 ]
    UniGenei Hs.419997.

    3D structure databases

    ProteinModelPortali Q6ZSB9.
    SMRi Q6ZSB9. Positions 7-119, 362-585.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127934. 3 interactions.
    IntActi Q6ZSB9. 2 interactions.

    PTM databases

    PhosphoSitei Q6ZSB9.

    Polymorphism databases

    DMDMi 296453078.

    Proteomic databases

    PaxDbi Q6ZSB9.
    PRIDEi Q6ZSB9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337872 ; ENSP00000338807 ; ENSG00000168826 . [Q6ZSB9-1 ]
    GeneIDi 166793.
    KEGGi hsa:166793.
    UCSCi uc003ghu.3. human. [Q6ZSB9-1 ]
    uc010icz.3. human. [Q6ZSB9-2 ]

    Organism-specific databases

    CTDi 166793.
    GeneCardsi GC04P004291.
    HGNCi HGNC:19883. ZBTB49.
    HPAi HPA024450.
    neXtProti NX_Q6ZSB9.
    PharmGKBi PA165664822.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000140405.
    HOVERGENi HBG061540.
    InParanoidi Q6ZSB9.
    OMAi CTELPFK.
    OrthoDBi EOG7KWSH5.
    PhylomeDBi Q6ZSB9.
    TreeFami TF330993.

    Miscellaneous databases

    GenomeRNAii 166793.
    NextBioi 88623.
    PROi Q6ZSB9.

    Gene expression databases

    ArrayExpressi Q6ZSB9.
    Bgeei Q6ZSB9.
    CleanExi HS_ZNF509.
    Genevestigatori Q6ZSB9.

    Family and domain databases

    Gene3Di 2.30.30.20. 1 hit.
    3.30.160.60. 7 hits.
    3.30.710.10. 1 hit.
    InterProi IPR020542. Asp_carbamoyltrfase_reg_C.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF00651. BTB. 1 hit.
    [Graphical view ]
    SMARTi SM00225. BTB. 1 hit.
    SM00355. ZnF_C2H2. 7 hits.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 7 hits.
    PS50157. ZINC_FINGER_C2H2_2. 7 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 1).
      Tissue: Tongue.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] OF 52-765 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 265-765 (ISOFORM 2), VARIANT VAL-642.
      Tissue: Lymph and Ovary.
    4. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 504-765.
      Tissue: Brain.

    Entry informationi

    Entry nameiZBT49_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZSB9
    Secondary accession number(s): Q59FJ4, Q5EBN0, Q8TB80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 108 of the entry and version 3 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 4
      Human chromosome 4: 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