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Protein

Protein fuzzy homolog

Gene

FUZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity).By similarity

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processCilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state

Names & Taxonomyi

Protein namesi
Recommended name:
Protein fuzzy homolog
Gene namesi
Name:FUZ
Synonyms:FY
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000010361.13
HGNCiHGNC:26219 FUZ
MIMi610622 gene
neXtProtiNX_Q9BT04

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi80199
MalaCardsiFUZ
OpenTargetsiENSG00000010361
Orphaneti1136 Arnold-Chiari malformation type II
3027 Caudal regression sequence
268392 Cervical spina bifida aperta
268762 Cervical spina bifida cystica
268397 Cervicothoracic spina bifida aperta
268766 Cervicothoracic spina bifida cystica
268388 Lumbosacral spina bifida aperta
268758 Lumbosacral spina bifida cystica
268384 Thoracolumbosacral spina bifida aperta
268752 Thoracolumbosacral spina bifida cystica
268377 Total spina bifida aperta
268748 Total spina bifida cystica
268740 Upper thoracic spina bifida aperta
268770 Upper thoracic spina bifida cystica
PharmGKBiPA145148782

Polymorphism and mutation databases

BioMutaiFUZ
DMDMi74733071

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003129201 – 418Protein fuzzy homologAdd BLAST418

Proteomic databases

PaxDbiQ9BT04
PeptideAtlasiQ9BT04
PRIDEiQ9BT04
ProteomicsDBi78936
78937 [Q9BT04-2]
78938 [Q9BT04-3]

PTM databases

iPTMnetiQ9BT04
PhosphoSitePlusiQ9BT04

Expressioni

Gene expression databases

BgeeiENSG00000010361
CleanExiHS_FUZ
ExpressionAtlasiQ9BT04 baseline and differential
GenevisibleiQ9BT04 HS

Organism-specific databases

HPAiHPA041779
HPA042196

Interactioni

Subunit structurei

Interacts with C5orf42/JBTS17. Interacts with INTU and WDPCP; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
RSG1Q9BU205EBI-750341,EBI-750332

Protein-protein interaction databases

BioGridi123171, 21 interactors
IntActiQ9BT04, 2 interactors
STRINGi9606.ENSP00000313309

Structurei

3D structure databases

ProteinModelPortaliQ9BT04
SMRiQ9BT04
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi235 – 418Leu-richAdd BLAST184

Sequence similaritiesi

Belongs to the fuzzy family.Curated

Phylogenomic databases

eggNOGiENOG410II7D Eukaryota
ENOG410ZQFB LUCA
GeneTreeiENSGT00390000010727
HOGENOMiHOG000006758
HOVERGENiHBG107934
InParanoidiQ9BT04
OMAiYTDCLLA
OrthoDBiEOG091G0BED
PhylomeDBiQ9BT04
TreeFamiTF324763

Family and domain databases

InterProiView protein in InterPro
IPR026069 Fuzzy
PANTHERiPTHR13559 PTHR13559, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BT04-1) [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

        10         20         30         40         50
MGEEGTGGTV HLLCLAASSG VPLFCRSSRG GAPARQQLPF SVIGSLNGVH
60 70 80 90 100
MFGQNLEVQL SSARTENTTV VWKSFHDSIT LIVLSSEVGI SELRLERLLQ
110 120 130 140 150
MVFGAMVLLV GLEELTNIRN VERLKKDLRA SYCLIDSFLG DSELIGDLTQ
160 170 180 190 200
CVDCVIPPEG SLLQEALSGF AEAAGTTFVS LVVSGRVVAA TEGWWRLGTP
210 220 230 240 250
EAVLLPWLVG SLPPQTARDY PVYLPHGSPT VPHRLLTLTL LPSLELCLLC
260 270 280 290 300
GPSPPLSQLY PQLLERWWQP LLDPLRACLP LGPRALPSGF PLHTDILGLL
310 320 330 340 350
LLHLELKRCL FTVEPLGDKE PSPEQRRRLL RNFYTLVTST HFPPEPGPPE
360 370 380 390 400
KTEDEVYQAQ LPRACYLVLG TEEPGTGVRL VALQLGLRRL LLLLSPQSPT
410
HGLRSLATHT LHALTPLL
Length:418
Mass (Da):45,679
Last modified:June 1, 2001 - v1
Checksum:i9967702DC289CD6F
GO
Isoform 2 (identifier: Q9BT04-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     365-418: CYLVLGTEEP...HTLHALTPLL → DYLAVGDGHRHGAVSVSLFIRSQ

Note: No experimental confirmation available.
Show »
Length:387
Mass (Da):42,353
Checksum:iA78320D149E90592
GO
Isoform 3 (identifier: Q9BT04-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-106: Missing.

Show »
Length:382
Mass (Da):41,591
Checksum:i418885FBED2D30E7
GO

Sequence cautioni

The sequence AAH10092 differs from that shown. Reason: Frameshift at position 265.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03761534A → S. Corresponds to variant dbSNP:rs35138412Ensembl.1
Natural variantiVAR_037616175G → D. Corresponds to variant dbSNP:rs35002951Ensembl.1
Natural variantiVAR_037617400T → I. Corresponds to variant dbSNP:rs12610577Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02996571 – 106Missing in isoform 3. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_029966365 – 418CYLVL…LTPLL → DYLAVGDGHRHGAVSVSLFI RSQ in isoform 2. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026341 mRNA Translation: BAB15454.1
AK315445 mRNA Translation: BAG37833.1
AC006942 Genomic DNA No translation available.
CH471177 Genomic DNA Translation: EAW52538.1
CH471177 Genomic DNA Translation: EAW52541.1
BC004445 mRNA Translation: AAH04445.1
BC010092 mRNA Translation: AAH10092.1 Frameshift.
BC016793 mRNA Translation: AAH16793.1
CCDSiCCDS12781.1 [Q9BT04-1]
CCDS54293.1 [Q9BT04-3]
RefSeqiNP_001165408.1, NM_001171937.1 [Q9BT04-3]
NP_079405.2, NM_025129.4 [Q9BT04-1]
UniGeneiHs.288800

Genome annotation databases

EnsembliENST00000313777; ENSP00000313309; ENSG00000010361 [Q9BT04-1]
ENST00000528094; ENSP00000435177; ENSG00000010361 [Q9BT04-3]
GeneIDi80199
KEGGihsa:80199
UCSCiuc002ppq.4 human [Q9BT04-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFUZZY_HUMAN
AccessioniPrimary (citable) accession number: Q9BT04
Secondary accession number(s): B2RD86
, B5MDH0, Q6PJY0, Q9H613
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 1, 2001
Last modified: June 20, 2018
This is version 120 of the entry and version 1 of the sequence. See 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

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