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O95876 (FRITZ_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:WDPCP
Synonyms:BBS15, C2orf86, FRITZ
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length746 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cell membrane By similarity. Cytoplasmcytoskeletoncilium axoneme By similarity.

Involvement in disease

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. Ref.5

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.

Sequence similarities

Belongs to the WD repeat fritz family.

Contains 2 WD repeats.

Caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95876-1)

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.
Isoform 2 (identifier: O95876-2)

The sequence of this isoform differs from the canonical sequence as follows:
     605-618: DIHYLALDKGELAL → ASCYLTSNYTTRLQ
     619-746: Missing.
Isoform 3 (identifier: O95876-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 746746WD repeat-containing and planar cell polarity effector protein fritz homolog
PRO_0000325802

Regions

Repeat326 – 37449WD 1
Repeat375 – 41440WD 2

Natural variations

Alternative sequence1 – 166166MRREF…DTISD → MFSSLHS in isoform 3.
VSP_032408
Alternative sequence605 – 61814DIHYL…GELAL → ASCYLTSNYTTRLQ in isoform 2.
VSP_032409
Alternative sequence619 – 746128Missing in isoform 2.
VSP_032410
Natural variant551R → K in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A. Ref.5
VAR_064770
Natural variant2051L → F in a patient with Bardet-Biedl syndrome compound heterozygous for mutations in BBS12. Ref.5
VAR_064771
Natural variant2681G → S.
Corresponds to variant rs17617459 [ dbSNP | Ensembl ].
VAR_039919
Natural variant7081S → F. Ref.5
VAR_064772

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 18, 2008. Version 2.
Checksum: 585EFED0D93EB3D4

FASTA74685,084
        10         20         30         40         50         60 
MRREFCWDAY SKAAGSRASS PLPRQDRDSF CHQMSFCLTE LHLWSLKNTL HIADRDIGIY 

        70         80         90        100        110        120 
QYYDKKDPPA TEHGNLEKKQ KLAESRDYPW TLKNRRPEKL RDSLKELEEL MQNSRCVLSK 

       130        140        150        160        170        180 
WKNKYVCQLL FGSGVLVSLS LSGPQLEKVV IDRSLVGKLI SDTISDALLT DSFIILSFLA 

       190        200        210        220        230        240 
QNKLCFIQFT KKMESSDVNK RLEKLSALDY KIFYYEIPGP INKTTERHLA INCVHDRVVC 

       250        260        270        280        290        300 
WWPLVNDDAW PWAPISSEKD RANLLLLGYA QGRLEVLSSV RTEWDPLDVR FGTKQPYQVF 

       310        320        330        340        350        360 
TVEHSVSVDK EPMADSCIYE CIRNKIQCVS VTRIPLKSKA ISCCRNVTED KLILGCEDSS 

       370        380        390        400        410        420 
LILYETHRRV TLLAQTELLP SLISCHPSGA ILLVGSNQGE LQIFDMALSP INIQLLAEDR 

       430        440        450        460        470        480 
LPRETLQFSK LFDASSSLVQ MQWIAPQVVS QKGEGSDIYD LLFLRFERGP LGVLLFKLGV 

       490        500        510        520        530        540 
FTRGQLGLID IIFQYIHCDE IYEAINILSS MNWDTLGHQC FISMSAIVNH LLRQKLTPER 

       550        560        570        580        590        600 
EAQLETSLGT FYAPTRPLLD STILEYRDQI SKYARRFFHH LLRYQRFEKA FLLAVDVGAR 

       610        620        630        640        650        660 
DLFMDIHYLA LDKGELALAE VARKRASDID AESITSGVEL LGPLDRGDML NEAFIGLSLA 

       670        680        690        700        710        720 
PQGEDSFPDN LPPSCPTHRH ILQQRILNGS SNRQIIDRRN ELEKDICSGF LMTNTCNAED 

       730        740 
GELREDGREQ EIRDGGSLKM IHFGLV 

« Hide

Isoform 2 [UniParc].

Checksum: 27D2487D6867E308
Show »

FASTA61871,020
Isoform 3 [UniParc].

Checksum: 1F9B84EEAC6EA4E7
Show »

FASTA58766,655

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_056994.3. NM_015910.5.
XP_005264407.1. XM_005264350.2.
UniGeneHs.414952.

3D structure databases

ProteinModelPortalO95876.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActO95876. 1 interaction.
STRING9606.ENSP00000272321.

PTM databases

PhosphoSiteO95876.

Proteomic databases

PaxDbO95876.
PeptideAtlasQ7Z2Z3.
PRIDEO95876.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000272321; ENSP00000272321; ENSG00000143951. [O95876-1]
ENST00000398544; ENSP00000381552; ENSG00000143951. [O95876-3]
ENST00000409562; ENSP00000387222; ENSG00000143951. [O95876-2]
GeneID51057.
KEGGhsa:51057.
UCSCuc002scf.3. human. [O95876-3]
uc002scg.3. human. [O95876-1]
uc010fcr.1. human. [O95876-2]

Organism-specific databases

CTD51057.
GeneCardsGC02M063349.
H-InvDBHIX0002091.
HGNCHGNC:28027. WDPCP.
HPAHPA044144.
MIM209900. phenotype.
613580. gene.
neXtProtNX_O95876.
Orphanet110. Bardet-Biedl syndrome.
564. Meckel syndrome.
PharmGKBPA164717186.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG75918.
InParanoidO95876.
OMANEAFIGL.
OrthoDBEOG7ZSHSP.
PhylomeDBO95876.
TreeFamTF323483.

Gene expression databases

ArrayExpressO95876.
BgeeO95876.
GenevestigatorO95876.

Family and domain databases

InterProIPR024511. frtz.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERPTHR13667. PTHR13667. 1 hit.
PfamPF11768. DUF3312. 1 hit.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi51057.
NextBio53628.
PROO95876.
SOURCESearch...

Entry information

Entry nameFRITZ_HUMAN
AccessionPrimary (citable) accession number: O95876
Secondary accession number(s): Q53RW4, Q7Z2Z3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: April 16, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM