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Protein

Protein fuzzy homolog

Gene

FUZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000010361-MONOMER.
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

HGNCiHGNC:26219. FUZ.

Subcellular locationi

  • Cytoplasm By similarity
  • Cytoplasmcytoskeleton By similarity
  • Cytoplasmcytoskeletoncilium basal body By similarity

GO - Cellular componenti

  • cell projection Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB-SubCell
  • cytoskeleton Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

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

EPDiQ9BT04.
PaxDbiQ9BT04.
PeptideAtlasiQ9BT04.
PRIDEiQ9BT04.

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
RSG1Q9BU203EBI-750341,EBI-750332

Protein-protein interaction databases

BioGridi123171. 19 interactors.
IntActiQ9BT04. 2 interactors.
STRINGi9606.ENSP00000313309.

Structurei

3D structure databases

ProteinModelPortaliQ9BT04.
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

InterProiIPR026069. Fuzzy.
[Graphical view]
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 rs35138412dbSNPEnsembl.1
Natural variantiVAR_037616175G → D.Corresponds to variant rs35002951dbSNPEnsembl.1
Natural variantiVAR_037617400T → I.Corresponds to variant rs12610577dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9BT04.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123171. 19 interactors.
IntActiQ9BT04. 2 interactors.
STRINGi9606.ENSP00000313309.

PTM databases

iPTMnetiQ9BT04.
PhosphoSitePlusiQ9BT04.

Polymorphism and mutation databases

BioMutaiFUZ.
DMDMi74733071.

Proteomic databases

EPDiQ9BT04.
PaxDbiQ9BT04.
PeptideAtlasiQ9BT04.
PRIDEiQ9BT04.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80199.
DisGeNETi80199.
GeneCardsiFUZ.
HGNCiHGNC:26219. FUZ.
HPAiHPA041779.
HPA042196.
MalaCardsiFUZ.
MIMi610622. gene.
neXtProtiNX_Q9BT04.
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.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000010361-MONOMER.
ReactomeiR-HSA-5610787. Hedgehog 'off' state.

Miscellaneous databases

GenomeRNAii80199.
PROiQ9BT04.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000010361.
CleanExiHS_FUZ.
ExpressionAtlasiQ9BT04. baseline and differential.
GenevisibleiQ9BT04. HS.

Family and domain databases

InterProiIPR026069. Fuzzy.
[Graphical view]
PANTHERiPTHR13559. PTHR13559. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiFUZZY_HUMAN
AccessioniPrimary (citable) accession number: Q9BT04
Secondary accession number(s): B2RD86
, B5MDH0, Q6PJY0, Q9H613
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 111 of the entry and version 1 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.