O95876 (FRITZ_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	WDPCP
Synonyms:	BBS15, C2orf86, FRITZ

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	746 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Cytoplasm › cytoskeleton › cilium 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.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell membrane Cell projection Cilium Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Bardet-Biedl syndrome Ciliopathy Mental retardation Obesity
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB regulation of embryonic cell shape Inferred from sequence or structural similarity. Source: UniProtKB regulation of protein localization Inferred from sequence or structural similarity. Source: UniProtKB septin cytoskeleton organization Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	cilium axoneme Inferred from sequence or structural similarity. Source: UniProtKB cytoskeleton Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 746	746	WD repeat-containing and planar cell polarity effector protein fritz homolog		PRO_0000325802
Regions
	Repeat	326 – 374	49	WD 1
	Repeat	375 – 414	40	WD 2
Natural variations
	Alternative sequence	1 – 166	166	MRREF…DTISD → MFSSLHS in isoform 3.		VSP_032408
	Alternative sequence	605 – 618	14	DIHYL…GELAL → ASCYLTSNYTTRLQ in isoform 2.		VSP_032409
	Alternative sequence	619 – 746	128	Missing in isoform 2.		VSP_032410
	Natural variant	55	1	R → K in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A. Ref.5		VAR_064770
	Natural variant	205	1	L → F in a patient with Bardet-Biedl syndrome compound heterozygous for mutations in BBS12. Ref.5		VAR_064771
	Natural variant	268	1	G → S. Corresponds to variant rs17617459 [ dbSNP | Ensembl ].		VAR_039919
	Natural variant	708	1	S → F. Ref.5		VAR_064772

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 18, 2008. Version 2. Checksum: 585EFED0D93EB3D4	FASTA	746	85,084
	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
	Isoform 2 [UniParc]. Checksum: 27D2487D6867E308	FASTA	618	71,020
	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 DLFMASCYLT SNYTTRLQ
	Isoform 3 [UniParc]. Checksum: 1F9B84EEAC6EA4E7	FASTA	587	66,655
	10 20 30 40 50 60 MFSSLHSALL TDSFIILSFL AQNKLCFIQF TKKMESSDVN KRLEKLSALD YKIFYYEIPG 70 80 90 100 110 120 PINKTTERHL AINCVHDRVV CWWPLVNDDA WPWAPISSEK DRANLLLLGY AQGRLEVLSS 130 140 150 160 170 180 VRTEWDPLDV RFGTKQPYQV FTVEHSVSVD KEPMADSCIY ECIRNKIQCV SVTRIPLKSK 190 200 210 220 230 240 AISCCRNVTE DKLILGCEDS SLILYETHRR VTLLAQTELL PSLISCHPSG AILLVGSNQG 250 260 270 280 290 300 ELQIFDMALS PINIQLLAED RLPRETLQFS KLFDASSSLV QMQWIAPQVV SQKGEGSDIY 310 320 330 340 350 360 DLLFLRFERG PLGVLLFKLG VFTRGQLGLI DIIFQYIHCD EIYEAINILS SMNWDTLGHQ 370 380 390 400 410 420 CFISMSAIVN HLLRQKLTPE REAQLETSLG TFYAPTRPLL DSTILEYRDQ ISKYARRFFH 430 440 450 460 470 480 HLLRYQRFEK AFLLAVDVGA RDLFMDIHYL ALDKGELALA EVARKRASDI DAESITSGVE 490 500 510 520 530 540 LLGPLDRGDM LNEAFIGLSL APQGEDSFPD NLPPSCPTHR HILQQRILNG SSNRQIIDRR 550 560 570 580 NELEKDICSG FLMTNTCNAE DGELREDGRE QEIRDGGSLK MIHFGLV

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00179605. IPI00783552. IPI00917705.
RefSeq	NP_056994.3. NM_015910.5.
UniGene	Hs.414952.
3D structure databases
ProteinModelPortal	O95876.
ModBase	Search...
Protein-protein interaction databases
IntAct	O95876. 1 interaction.
STRING	9606.ENSP00000272321.
PTM databases
PhosphoSite	O95876.
Proteomic databases
PaxDb	O95876.
PeptideAtlas	Q7Z2Z3.
PRIDE	O95876.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000272321; ENSP00000272321; ENSG00000143951. ENST00000398544; ENSP00000381552; ENSG00000143951. ENST00000409562; ENSP00000387222; ENSG00000143951.
GeneID	51057.
KEGG	hsa:51057.
UCSC	uc002scf.3. human. uc002scg.3. human. uc010fcr.1. human.
Organism-specific databases
CTD	51057.
GeneCards	GC02M063349.
H-InvDB	HIX0002091.
HGNC	HGNC:28027. WDPCP.
HPA	HPA044144.
MIM	209900. phenotype. 613580. gene.
neXtProt	NX_O95876.
Orphanet	110. Bardet-Biedl syndrome. 564. Meckel syndrome.
PharmGKB	PA164717186.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG75918.
InParanoid	O95876.
OMA	NEAFIGL.
OrthoDB	EOG4RV2QR.
PhylomeDB	O95876.
Gene expression databases
ArrayExpress	O95876.
Bgee	O95876.
Genevestigator	O95876.
Family and domain databases
InterPro	IPR024511. DUF3312. [Graphical view]
Pfam	PF11768. DUF3312. 1 hit. [Graphical view]
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51057.
NextBio	53628.
SOURCE	Search...

Entry information

Entry name

FRITZ_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.