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O95876

- FRITZ_HUMAN

UniProt

O95876 - FRITZ_HUMAN

Protein

WD repeat-containing and planar cell polarity effector protein fritz homolog

Gene

WDPCP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (18 Mar 2008)
      Previous versions | rss
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    Functioni

    Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements.By similarity

    GO - Biological processi

    1. cilium morphogenesis Source: UniProtKB
    2. regulation of embryonic cell shape Source: UniProtKB
    3. regulation of protein localization Source: UniProtKB
    4. septin cytoskeleton organization Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    WD repeat-containing and planar cell polarity effector protein fritz homolog
    Short name:
    hFRTZ
    Alternative name(s):
    Bardet-Biedl syndrome 15 protein
    WD repeat-containing and planar cell polarity effector protein
    Gene namesi
    Name:WDPCP
    Synonyms:BBS15, C2orf86, FRITZ
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:28027. WDPCP.

    Subcellular locationi

    Cell membrane By similarity. Cytoplasmcytoskeletoncilium axoneme By similarity

    GO - Cellular componenti

    1. axoneme Source: UniProtKB
    2. cytoskeleton Source: UniProtKB-KW
    3. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Bardet-Biedl syndrome 15 (BBS15) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Mutations in WDPCP may act as modifiers of the phenotypic expression of Bardet-Biedl syndrome and Meckel syndrome by interacting in trans with primary BBS and MKS loci.1 Publication

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Mental retardation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    564. Meckel syndrome.
    PharmGKBiPA164717186.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 746746WD repeat-containing and planar cell polarity effector protein fritz homologPRO_0000325802Add
    BLAST

    Proteomic databases

    PaxDbiO95876.
    PeptideAtlasiQ7Z2Z3.
    PRIDEiO95876.

    PTM databases

    PhosphoSiteiO95876.

    Expressioni

    Gene expression databases

    ArrayExpressiO95876.
    BgeeiO95876.
    GenevestigatoriO95876.

    Organism-specific databases

    HPAiHPA044144.

    Interactioni

    Protein-protein interaction databases

    IntActiO95876. 1 interaction.
    STRINGi9606.ENSP00000272321.

    Structurei

    3D structure databases

    ProteinModelPortaliO95876.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati326 – 37449WD 1Add
    BLAST
    Repeati375 – 41440WD 2Add
    BLAST

    Sequence similaritiesi

    Belongs to the WD repeat fritz family.Curated
    Contains 2 WD repeats.Curated

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG75918.
    InParanoidiO95876.
    OMAiNEAFIGL.
    OrthoDBiEOG7ZSHSP.
    PhylomeDBiO95876.
    TreeFamiTF323483.

    Family and domain databases

    InterProiIPR024511. Frtz.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PANTHERiPTHR13667. PTHR13667. 1 hit.
    PfamiPF11768. DUF3312. 1 hit.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95876-1) [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

    MRREFCWDAY SKAAGSRASS PLPRQDRDSF CHQMSFCLTE LHLWSLKNTL    50
    HIADRDIGIY QYYDKKDPPA TEHGNLEKKQ KLAESRDYPW TLKNRRPEKL 100
    RDSLKELEEL MQNSRCVLSK WKNKYVCQLL FGSGVLVSLS LSGPQLEKVV 150
    IDRSLVGKLI SDTISDALLT DSFIILSFLA QNKLCFIQFT KKMESSDVNK 200
    RLEKLSALDY KIFYYEIPGP INKTTERHLA INCVHDRVVC WWPLVNDDAW 250
    PWAPISSEKD RANLLLLGYA QGRLEVLSSV RTEWDPLDVR FGTKQPYQVF 300
    TVEHSVSVDK EPMADSCIYE CIRNKIQCVS VTRIPLKSKA ISCCRNVTED 350
    KLILGCEDSS LILYETHRRV TLLAQTELLP SLISCHPSGA ILLVGSNQGE 400
    LQIFDMALSP INIQLLAEDR LPRETLQFSK LFDASSSLVQ MQWIAPQVVS 450
    QKGEGSDIYD LLFLRFERGP LGVLLFKLGV FTRGQLGLID IIFQYIHCDE 500
    IYEAINILSS MNWDTLGHQC FISMSAIVNH LLRQKLTPER EAQLETSLGT 550
    FYAPTRPLLD STILEYRDQI SKYARRFFHH LLRYQRFEKA FLLAVDVGAR 600
    DLFMDIHYLA LDKGELALAE VARKRASDID AESITSGVEL LGPLDRGDML 650
    NEAFIGLSLA PQGEDSFPDN LPPSCPTHRH ILQQRILNGS SNRQIIDRRN 700
    ELEKDICSGF LMTNTCNAED GELREDGREQ EIRDGGSLKM IHFGLV 746
    Length:746
    Mass (Da):85,084
    Last modified:March 18, 2008 - v2
    Checksum:i585EFED0D93EB3D4
    GO
    Isoform 2 (identifier: O95876-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         605-618: DIHYLALDKGELAL → ASCYLTSNYTTRLQ
         619-746: Missing.

    Show »
    Length:618
    Mass (Da):71,020
    Checksum:i27D2487D6867E308
    GO
    Isoform 3 (identifier: O95876-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-166: MRREFCWDAY...GKLISDTISD → MFSSLHS

    Show »
    Length:587
    Mass (Da):66,655
    Checksum:i1F9B84EEAC6EA4E7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551R → K in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A. 1 Publication
    VAR_064770
    Natural varianti205 – 2051L → F in a patient with Bardet-Biedl syndrome compound heterozygous for mutations in BBS12. 1 Publication
    VAR_064771
    Natural varianti268 – 2681G → S.
    Corresponds to variant rs17617459 [ dbSNP | Ensembl ].
    VAR_039919
    Natural varianti708 – 7081S → F.1 Publication
    VAR_064772

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 166166MRREF…DTISD → MFSSLHS in isoform 3. 2 PublicationsVSP_032408Add
    BLAST
    Alternative sequencei605 – 61814DIHYL…GELAL → ASCYLTSNYTTRLQ in isoform 2. 1 PublicationVSP_032409Add
    BLAST
    Alternative sequencei619 – 746128Missing in isoform 2. 1 PublicationVSP_032410Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF131737 mRNA. Translation: AAD20026.1.
    BX538331 mRNA. Translation: CAD98100.1.
    AC079353 Genomic DNA. Translation: AAY24034.1.
    AC009501 Genomic DNA. No translation available.
    AC067953 Genomic DNA. No translation available.
    AC074367 Genomic DNA. No translation available.
    BC093752 mRNA. Translation: AAH93752.1.
    BC093754 mRNA. Translation: AAH93754.1.
    CCDSiCCDS42688.1. [O95876-1]
    RefSeqiNP_056994.3. NM_015910.5. [O95876-1]
    XP_005264407.1. XM_005264350.2. [O95876-3]
    UniGeneiHs.414952.

    Genome annotation databases

    EnsembliENST00000272321; ENSP00000272321; ENSG00000143951. [O95876-1]
    ENST00000398544; ENSP00000381552; ENSG00000143951. [O95876-3]
    ENST00000409562; ENSP00000387222; ENSG00000143951. [O95876-2]
    GeneIDi51057.
    KEGGihsa:51057.
    UCSCiuc002scf.3. human. [O95876-3]
    uc002scg.3. human. [O95876-1]
    uc010fcr.1. human. [O95876-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF131737 mRNA. Translation: AAD20026.1 .
    BX538331 mRNA. Translation: CAD98100.1 .
    AC079353 Genomic DNA. Translation: AAY24034.1 .
    AC009501 Genomic DNA. No translation available.
    AC067953 Genomic DNA. No translation available.
    AC074367 Genomic DNA. No translation available.
    BC093752 mRNA. Translation: AAH93752.1 .
    BC093754 mRNA. Translation: AAH93754.1 .
    CCDSi CCDS42688.1. [O95876-1 ]
    RefSeqi NP_056994.3. NM_015910.5. [O95876-1 ]
    XP_005264407.1. XM_005264350.2. [O95876-3 ]
    UniGenei Hs.414952.

    3D structure databases

    ProteinModelPortali O95876.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi O95876. 1 interaction.
    STRINGi 9606.ENSP00000272321.

    PTM databases

    PhosphoSitei O95876.

    Proteomic databases

    PaxDbi O95876.
    PeptideAtlasi Q7Z2Z3.
    PRIDEi O95876.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000272321 ; ENSP00000272321 ; ENSG00000143951 . [O95876-1 ]
    ENST00000398544 ; ENSP00000381552 ; ENSG00000143951 . [O95876-3 ]
    ENST00000409562 ; ENSP00000387222 ; ENSG00000143951 . [O95876-2 ]
    GeneIDi 51057.
    KEGGi hsa:51057.
    UCSCi uc002scf.3. human. [O95876-3 ]
    uc002scg.3. human. [O95876-1 ]
    uc010fcr.1. human. [O95876-2 ]

    Organism-specific databases

    CTDi 51057.
    GeneCardsi GC02M063349.
    GeneReviewsi WDPCP.
    H-InvDB HIX0002091.
    HGNCi HGNC:28027. WDPCP.
    HPAi HPA044144.
    MIMi 209900. phenotype.
    613580. gene.
    neXtProti NX_O95876.
    Orphaneti 110. Bardet-Biedl syndrome.
    564. Meckel syndrome.
    PharmGKBi PA164717186.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG75918.
    InParanoidi O95876.
    OMAi NEAFIGL.
    OrthoDBi EOG7ZSHSP.
    PhylomeDBi O95876.
    TreeFami TF323483.

    Miscellaneous databases

    GenomeRNAii 51057.
    NextBioi 53628.
    PROi O95876.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95876.
    Bgeei O95876.
    Genevestigatori O95876.

    Family and domain databases

    InterProi IPR024511. Frtz.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    PANTHERi PTHR13667. PTHR13667. 1 hit.
    Pfami PF11768. DUF3312. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Mei G., Yu W., Gibbs R.A.
      Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Fetal brain.
    3. "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].
    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] (ISOFORM 3).
      Tissue: Brain.
    5. "Planar cell polarity acts through septins to control collective cell movement and ciliogenesis."
      Kim S.K., Shindo A., Park T.J., Oh E.C., Ghosh S., Gray R.S., Lewis R.A., Johnson C.A., Attie-Bittach T., Katsanis N., Wallingford J.B.
      Science 329:1337-1340(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BBS15, INVOLVEMENT IN MECKEL SYNDROME, VARIANTS LYS-55; PHE-205 AND PHE-708.

    Entry informationi

    Entry nameiFRITZ_HUMAN
    AccessioniPrimary (citable) accession number: O95876
    Secondary accession number(s): Q53RW4, Q7Z2Z3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: March 18, 2008
    Last modified: October 1, 2014
    This is version 88 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

    Caution

    It is uncertain whether Met-1 or Met-34 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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