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Q6ZRF8

- RN207_HUMAN

UniProt

Q6ZRF8 - RN207_HUMAN

Protein

RING finger protein 207

Gene

RNF207

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • Format
    • Add to basket
    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (11 Sep 2007)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri25 – 6440RING-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri93 – 14553B box-type; atypicalPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. zinc ion binding Source: InterPro

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    RING finger protein 207
    Gene namesi
    Name:RNF207
    Synonyms:C1orf188
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:32947. RNF207.

    Subcellular locationi

    GO - Cellular componenti

    1. intracellular Source: InterPro

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA145148144.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 634634RING finger protein 207PRO_0000300809Add
    BLAST

    Proteomic databases

    PaxDbiQ6ZRF8.
    PRIDEiQ6ZRF8.

    PTM databases

    PhosphoSiteiQ6ZRF8.

    Expressioni

    Gene expression databases

    BgeeiQ6ZRF8.
    CleanExiHS_RNF207.
    GenevestigatoriQ6ZRF8.

    Organism-specific databases

    HPAiHPA028378.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000367173.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZRF8.
    SMRiQ6ZRF8. Positions 19-68.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili422 – 45736Sequence AnalysisAdd
    BLAST
    Coiled coili494 – 51825Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi353 – 3564Poly-Leu
    Compositional biasi362 – 3654Poly-Ala

    Sequence similaritiesi

    Contains 1 B box-type zinc finger.PROSITE-ProRule annotation
    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri25 – 6440RING-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri93 – 14553B box-type; atypicalPROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG122723.
    HOGENOMiHOG000154160.
    HOVERGENiHBG096720.
    InParanoidiQ6ZRF8.
    OMAiQSSKIAS.
    OrthoDBiEOG747PH8.
    PhylomeDBiQ6ZRF8.
    TreeFamiTF318184.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR000315. Znf_B-box.
    IPR018957. Znf_C3HC4_RING-type.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    IPR017907. Znf_RING_CS.
    [Graphical view]
    PfamiPF00643. zf-B_box. 1 hit.
    PF00097. zf-C3HC4. 1 hit.
    [Graphical view]
    SMARTiSM00184. RING. 1 hit.
    [Graphical view]
    PROSITEiPS50119. ZF_BBOX. 1 hit.
    PS00518. ZF_RING_1. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ZRF8-1) [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

    MSGAIFGPLE GPSSLDAPSI HPLVCPLCHV QYERPCLLDC FHDFCAGCLR    50
    GRATDGRLTC PLCQHQTVLK GPSGLPPVDR LLQFLVDSSG DGVEAVRCAN 100
    CDLECSEQDV ETTYFCNTCG QPLCARCRDE THRARMFARH DIVALGQRSR 150
    DVPQKCTLHA EPYLLFSTDK KLLLCIRCFR DMQKESRAHC VDLESAYVQG 200
    CERLEQAVLA VKALQTATRE AIALLQAMVE EVRHSAAEEE DAIHALFGSM 250
    QDRLAERKAL LLQAVQSQYE EKDKAFKEQL SHLATLLPTL QVHLVICSSF 300
    LSLANKAEFL DLGYELMERL QGIVTRPHHL RPIQSSKIAS DHRAEFARCL 350
    EPLLLLGPRR VAAAASGANT LAGGLGPKAL TGPHCPSPVG KMSGSPVQKP 400
    TLHRSISTKV LLAEGENTPF AEHCRHYEDS YRHLQAEMQS LKDQVQELHR 450
    DLTKHHSLIK AEIMGDVLHK SLQLDVQIAS EHASLEGMRV VFQEIWEEAY 500
    QRVANEQEIY EAQLHDLLQL RQENAYLTTI TKQITPYVRS IAKVKERLEP 550
    RFQAPVDEQS ESLQNTHDDS RNNAASARNN PGSVPEKREK TSEPKGNSWA 600
    PNGLSEEPLL KNMDHHRSKQ KNGGDVPTWR EHPT 634
    Length:634
    Mass (Da):70,861
    Last modified:September 11, 2007 - v2
    Checksum:iA434507E22D45AFF
    GO
    Isoform 2 (identifier: Q6ZRF8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         109-244: DVETTYFCNT...SAAEEEDAIH → AGAAGRVGEE...WGQHAVPSGL
         245-634: Missing.

    Show »
    Length:244
    Mass (Da):25,956
    Checksum:i19CDF0AE9954A78F
    GO
    Isoform 3 (identifier: Q6ZRF8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-227: Missing.
         315-371: ELMERLQGIV...AAAASGANTL → AGRGLRPQGA...HALRRALPPL
         372-634: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:144
    Mass (Da):15,623
    Checksum:i9CC3704E7F73528B
    GO
    Isoform 4 (identifier: Q6ZRF8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-227: Missing.
         512-519: AQLHDLLQ → GSRQLAAE
         520-634: Missing.

    Show »
    Length:292
    Mass (Da):32,622
    Checksum:i2E89FEADFF92B8E9
    GO

    Sequence cautioni

    The sequence AAI28238.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti309 – 3091F → L in BAB71243. (PubMed:14702039)Curated

    Polymorphismi

    Genetic variation in RNF207 may influence the duration of QT interval, a mesure of cardiac repolarization that depends on multiple environmental and genetic contributors. Prolonged or shortened QT intervals predisposes to ventricular arrhythmias and are a risk factor for sudden cardiac death.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti421 – 4211A → T.
    Corresponds to variant rs12073329 [ dbSNP | Ensembl ].
    VAR_052112
    Natural varianti539 – 5391R → C.
    Corresponds to variant rs55823245 [ dbSNP | Ensembl ].
    VAR_061818
    Natural varianti573 – 5731N → S.1 Publication
    Corresponds to variant rs709209 [ dbSNP | Ensembl ].
    VAR_052113
    Natural varianti603 – 6031G → A.1 Publication
    Corresponds to variant rs846111 [ dbSNP | Ensembl ].
    VAR_052114

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 227227Missing in isoform 3 and isoform 4. 2 PublicationsVSP_028439Add
    BLAST
    Alternative sequencei109 – 244136DVETT…EDAIH → AGAAGRVGEEQRVPGCTVPN ACTCTQHVFRGRPGSGFSST SLGHLGPKCEPHYTGGETEV QNKGLEPVSRQWQRLRPFDL GRAHWSPIQGGVVDLHRRGS PVCRPGPTLKGLCYPSGIEA ATAQGRWGQHAVPSGL in isoform 2. 2 PublicationsVSP_027863Add
    BLAST
    Alternative sequencei245 – 634390Missing in isoform 2. 2 PublicationsVSP_027864Add
    BLAST
    Alternative sequencei315 – 37157ELMER…GANTL → AGRGLRPQGADGAPLPLPSR KDVGVTRPKAHAAPVHQHQG AAGGGREHALRRALPPL in isoform 3. 1 PublicationVSP_028440Add
    BLAST
    Alternative sequencei372 – 634263Missing in isoform 3. 1 PublicationVSP_028441Add
    BLAST
    Alternative sequencei512 – 5198AQLHDLLQ → GSRQLAAE in isoform 4. 2 PublicationsVSP_028442
    Alternative sequencei520 – 634115Missing in isoform 4. 2 PublicationsVSP_028443Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056658 mRNA. Translation: BAB71243.1.
    AK127700 mRNA. Translation: BAC87091.1.
    AK128246 mRNA. Translation: BAC87352.1.
    AK294223 mRNA. Translation: BAG57527.1.
    AL031847 Genomic DNA. Translation: CAI19444.2.
    BC119780 mRNA. Translation: AAI19781.1.
    BC128237 mRNA. Translation: AAI28238.1. Different initiation.
    CCDSiCCDS59.2. [Q6ZRF8-1]
    RefSeqiNP_997279.2. NM_207396.2. [Q6ZRF8-1]
    UniGeneiHs.716549.

    Genome annotation databases

    EnsembliENST00000377939; ENSP00000367173; ENSG00000158286. [Q6ZRF8-1]
    GeneIDi388591.
    KEGGihsa:388591.
    UCSCiuc001amf.1. human. [Q6ZRF8-2]
    uc001amg.3. human. [Q6ZRF8-1]

    Polymorphism databases

    DMDMi158563957.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056658 mRNA. Translation: BAB71243.1 .
    AK127700 mRNA. Translation: BAC87091.1 .
    AK128246 mRNA. Translation: BAC87352.1 .
    AK294223 mRNA. Translation: BAG57527.1 .
    AL031847 Genomic DNA. Translation: CAI19444.2 .
    BC119780 mRNA. Translation: AAI19781.1 .
    BC128237 mRNA. Translation: AAI28238.1 . Different initiation.
    CCDSi CCDS59.2. [Q6ZRF8-1 ]
    RefSeqi NP_997279.2. NM_207396.2. [Q6ZRF8-1 ]
    UniGenei Hs.716549.

    3D structure databases

    ProteinModelPortali Q6ZRF8.
    SMRi Q6ZRF8. Positions 19-68.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000367173.

    PTM databases

    PhosphoSitei Q6ZRF8.

    Polymorphism databases

    DMDMi 158563957.

    Proteomic databases

    PaxDbi Q6ZRF8.
    PRIDEi Q6ZRF8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377939 ; ENSP00000367173 ; ENSG00000158286 . [Q6ZRF8-1 ]
    GeneIDi 388591.
    KEGGi hsa:388591.
    UCSCi uc001amf.1. human. [Q6ZRF8-2 ]
    uc001amg.3. human. [Q6ZRF8-1 ]

    Organism-specific databases

    CTDi 388591.
    GeneCardsi GC01P006265.
    H-InvDB HIX0000075.
    HGNCi HGNC:32947. RNF207.
    HPAi HPA028378.
    neXtProti NX_Q6ZRF8.
    PharmGKBi PA145148144.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG122723.
    HOGENOMi HOG000154160.
    HOVERGENi HBG096720.
    InParanoidi Q6ZRF8.
    OMAi QSSKIAS.
    OrthoDBi EOG747PH8.
    PhylomeDBi Q6ZRF8.
    TreeFami TF318184.

    Miscellaneous databases

    GenomeRNAii 388591.
    NextBioi 102203.
    PROi Q6ZRF8.

    Gene expression databases

    Bgeei Q6ZRF8.
    CleanExi HS_RNF207.
    Genevestigatori Q6ZRF8.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR000315. Znf_B-box.
    IPR018957. Znf_C3HC4_RING-type.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    IPR017907. Znf_RING_CS.
    [Graphical view ]
    Pfami PF00643. zf-B_box. 1 hit.
    PF00097. zf-C3HC4. 1 hit.
    [Graphical view ]
    SMARTi SM00184. RING. 1 hit.
    [Graphical view ]
    PROSITEi PS50119. ZF_BBOX. 1 hit.
    PS00518. ZF_RING_1. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [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] (ISOFORMS 2; 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 392-634 (ISOFORM 1).
      Tissue: Amygdala, Brain, Teratocarcinoma and Thymus.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [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] (ISOFORMS 2 AND 4).
    4. Cited for: ASSOCIATION WITH QT INTERVAL VARIANCE.
    5. Cited for: ASSOCIATION WITH QT INTERVAL VARIANCE, VARIANTS SER-573 AND ALA-603.

    Entry informationi

    Entry nameiRN207_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZRF8
    Secondary accession number(s): A2VCM8
    , B4DFR6, Q5TGS6, Q6ZS63, Q96MP2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: September 11, 2007
    Last modified: October 1, 2014
    This is version 90 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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