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O75679

- RFPL3_HUMAN

UniProt

O75679 - RFPL3_HUMAN

Protein

Ret finger protein-like 3

Gene

RFPL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (15 Mar 2005)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri40 – 8243RING-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. zinc ion binding Source: InterPro

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ret finger protein-like 3
    Gene namesi
    Name:RFPL3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:9980. RFPL3.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34349.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 317317Ret finger protein-like 3PRO_0000056032Add
    BLAST

    Proteomic databases

    PaxDbiO75679.
    PRIDEiO75679.

    Expressioni

    Gene expression databases

    BgeeiO75679.
    CleanExiHS_RFPL3.
    GenevestigatoriO75679.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000249007.

    Structurei

    3D structure databases

    ProteinModelPortaliO75679.
    SMRiO75679. Positions 35-100, 122-303.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini107 – 301195B30.2/SPRYPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation
    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri40 – 8243RING-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG267502.
    HOGENOMiHOG000230861.
    HOVERGENiHBG061854.
    InParanoidiO75679.
    OMAiGNLANKR.
    OrthoDBiEOG7CVPZS.
    PhylomeDBiO75679.
    TreeFamiTF317532.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR006574. PRY.
    IPR022723. RDM_domain_RFPL.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF13765. PRY. 1 hit.
    PF11002. RDM. 1 hit.
    PF00622. SPRY. 1 hit.
    [Graphical view]
    PRINTSiPR01407. BUTYPHLNCDUF.
    SMARTiSM00589. PRY. 1 hit.
    SM00184. RING. 1 hit.
    SM00449. SPRY. 1 hit.
    [Graphical view]
    SUPFAMiSSF49899. SSF49899. 1 hit.
    PROSITEiPS50188. B302_SPRY. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O75679-1) [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

    MKRLSLVTTN RLSPQGNFLP LCTFPLAVDM AALFQEASSC PVCSDYLEKP    50
    MSLECGCTVC LKCINSLQKE PHGEDLLCCC CSMVSQRNKI RPNRQLERLV 100
    SHIKELEPKL KKILQMNPRM RKFQVDMTLD ADTANNFLLI SDDLRSVRSG 150
    LITQNRQDLA ERFDVSVCIL GSPRFTCGRH YWEVDVGTST EWDLGVCRES 200
    VHCKGKIQLT TELGFWTVSL RDGSRLSAST VPLTFLLVDR KLQRVGIFLD 250
    MGMQNVSFFD AESGSHVYTF RSVSAEEPLR PFLAPSIPPN GDQGVLSICP 300
    LMNSGTTDAP VRPGEAK 317
    Length:317
    Mass (Da):35,386
    Last modified:March 15, 2005 - v2
    Checksum:i6C27D4829924D2FB
    GO
    Isoform 2 (identifier: O75679-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-29: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:288
    Mass (Da):32,171
    Checksum:iE1FB99D29C010E3E
    GO

    Sequence cautioni

    The sequence CAA09046.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti83 – 831M → T.
    Corresponds to variant rs16987625 [ dbSNP | Ensembl ].
    VAR_052091
    Natural varianti110 – 1101L → M.1 Publication
    Corresponds to variant rs9621427 [ dbSNP | Ensembl ].
    VAR_052092
    Natural varianti126 – 1261D → N.
    Corresponds to variant rs9619258 [ dbSNP | Ensembl ].
    VAR_052093
    Natural varianti181 – 1811Y → C.
    Corresponds to variant rs5749408 [ dbSNP | Ensembl ].
    VAR_059814

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2929Missing in isoform 2. 1 PublicationVSP_045651Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ010232 mRNA. Translation: CAA09046.1. Different initiation.
    CR456564 mRNA. Translation: CAG30450.1.
    AL021937 Genomic DNA. Translation: CAB38256.1.
    AL021937 Genomic DNA. Translation: CAI19583.1.
    BC031689 mRNA. Translation: AAH31689.1.
    BC069753 mRNA. Translation: AAH69753.2.
    CCDSiCCDS13904.1. [O75679-2]
    CCDS43011.1. [O75679-1]
    RefSeqiNP_001092005.1. NM_001098535.1. [O75679-1]
    NP_006595.1. NM_006604.2. [O75679-2]
    UniGeneiHs.558455.

    Genome annotation databases

    EnsembliENST00000249007; ENSP00000249007; ENSG00000128276. [O75679-1]
    ENST00000397468; ENSP00000380609; ENSG00000128276. [O75679-2]
    GeneIDi10738.
    KEGGihsa:10738.
    UCSCiuc003amj.3. human. [O75679-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ010232 mRNA. Translation: CAA09046.1 . Different initiation.
    CR456564 mRNA. Translation: CAG30450.1 .
    AL021937 Genomic DNA. Translation: CAB38256.1 .
    AL021937 Genomic DNA. Translation: CAI19583.1 .
    BC031689 mRNA. Translation: AAH31689.1 .
    BC069753 mRNA. Translation: AAH69753.2 .
    CCDSi CCDS13904.1. [O75679-2 ]
    CCDS43011.1. [O75679-1 ]
    RefSeqi NP_001092005.1. NM_001098535.1. [O75679-1 ]
    NP_006595.1. NM_006604.2. [O75679-2 ]
    UniGenei Hs.558455.

    3D structure databases

    ProteinModelPortali O75679.
    SMRi O75679. Positions 35-100, 122-303.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000249007.

    Proteomic databases

    PaxDbi O75679.
    PRIDEi O75679.

    Protocols and materials databases

    DNASUi 10738.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249007 ; ENSP00000249007 ; ENSG00000128276 . [O75679-1 ]
    ENST00000397468 ; ENSP00000380609 ; ENSG00000128276 . [O75679-2 ]
    GeneIDi 10738.
    KEGGi hsa:10738.
    UCSCi uc003amj.3. human. [O75679-1 ]

    Organism-specific databases

    CTDi 10738.
    GeneCardsi GC22P032750.
    H-InvDB HIX0027856.
    HGNCi HGNC:9980. RFPL3.
    MIMi 605970. gene.
    neXtProti NX_O75679.
    PharmGKBi PA34349.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267502.
    HOGENOMi HOG000230861.
    HOVERGENi HBG061854.
    InParanoidi O75679.
    OMAi GNLANKR.
    OrthoDBi EOG7CVPZS.
    PhylomeDBi O75679.
    TreeFami TF317532.

    Miscellaneous databases

    ChiTaRSi RFPL3. human.
    GenomeRNAii 10738.
    NextBioi 40770.
    PROi O75679.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75679.
    CleanExi HS_RFPL3.
    Genevestigatori O75679.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR001870. B30.2/SPRY.
    IPR003879. Butyrophylin.
    IPR008985. ConA-like_lec_gl_sf.
    IPR006574. PRY.
    IPR022723. RDM_domain_RFPL.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF13765. PRY. 1 hit.
    PF11002. RDM. 1 hit.
    PF00622. SPRY. 1 hit.
    [Graphical view ]
    PRINTSi PR01407. BUTYPHLNCDUF.
    SMARTi SM00589. PRY. 1 hit.
    SM00184. RING. 1 hit.
    SM00449. SPRY. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49899. SSF49899. 1 hit.
    PROSITEi PS50188. B302_SPRY. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Duplications on human chromosome 22 reveal a novel Ret finger protein-like gene family with sense and endogenous antisense transcripts."
      Seroussi E., Kedra D., Pan H.-Q., Peyrad M., Schwartz C., Scambler P., Donnai D., Roe B.A., Dumanski J.P.
      Genome Res. 9:803-814(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 1 AND 2), VARIANT MET-110.
      Tissue: Brain.

    Entry informationi

    Entry nameiRFPL3_HUMAN
    AccessioniPrimary (citable) accession number: O75679
    Secondary accession number(s): A2A279
    , Q6IC03, Q6IC04, Q6NSX3, Q8N5R4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: March 15, 2005
    Last modified: October 1, 2014
    This is version 121 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 22
      Human chromosome 22: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3