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O95876

- FRITZ_HUMAN

UniProt

O95876 - FRITZ_HUMAN

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Protein
WD repeat-containing and planar cell polarity effector protein fritz homolog
Gene
WDPCP, BBS15, C2orf86, FRITZ
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

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 homolog
PRO_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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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

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.
VSP_032408Add
BLAST
Alternative sequencei605 – 61814DIHYL…GELAL → ASCYLTSNYTTRLQ in isoform 2.
VSP_032409Add
BLAST
Alternative sequencei619 – 746128Missing in isoform 2.
VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 87 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.

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

Similar proteinsi