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Entry version 134 (12 Aug 2020)
Sequence version 1 (01 Jun 2001)
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Protein

Protein fuzzy homolog

Gene

FUZ

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9BT04

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787, Hedgehog 'off' state

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein fuzzy homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FUZ
Synonyms:FY
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000010361.13

Human Gene Nomenclature Database

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HGNCi
HGNC:26219, FUZ

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610622, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9BT04

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
80199

MalaCards human disease database

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MalaCardsi
FUZ

Open Targets

More...
OpenTargetsi
ENSG00000010361

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1136, 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145148782

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BT04, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FUZ

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74733071

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003129201 – 418Protein fuzzy homologAdd BLAST418

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BT04

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BT04

PeptideAtlas

More...
PeptideAtlasi
Q9BT04

PRoteomics IDEntifications database

More...
PRIDEi
Q9BT04

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
78936 [Q9BT04-1]
78937 [Q9BT04-2]
78938 [Q9BT04-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BT04

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BT04

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000010361, Expressed in left testis and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BT04, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BT04, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000010361, Tissue enriched (testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CPLANE1.

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

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
123171, 23 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-5001, CPLANE complex

Protein interaction database and analysis system

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IntActi
Q9BT04, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000313309

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9BT04, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9BT04

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi235 – 418Leu-richAdd BLAST184

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the fuzzy family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QVMY, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000010727

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_041212_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BT04

KEGG Orthology (KO)

More...
KOi
K22861

Identification of Orthologs from Complete Genome Data

More...
OMAi
YTDCLLA

Database of Orthologous Groups

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OrthoDBi
723214at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BT04

TreeFam database of animal gene trees

More...
TreeFami
TF324763

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026069, Fuzzy

The PANTHER Classification System

More...
PANTHERi
PTHR13559, PTHR13559, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BT04-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QYI7M0QYI7_HUMAN
Protein fuzzy homolog
FUZ
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PK12E9PK12_HUMAN
Protein fuzzy homolog
FUZ
368Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PLA3E9PLA3_HUMAN
Protein fuzzy homolog
FUZ
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G5E9A4G5E9A4_HUMAN
Protein fuzzy homolog
FUZ
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R1D4M0R1D4_HUMAN
Protein fuzzy homolog
FUZ
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PKJ4E9PKJ4_HUMAN
Protein fuzzy homolog
FUZ
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R0M0M0R0M0_HUMAN
Protein fuzzy homolog
FUZ
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYX9M0QYX9_HUMAN
Protein fuzzy homolog
FUZ
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PS25E9PS25_HUMAN
Protein fuzzy homolog
FUZ
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QZY8M0QZY8_HUMAN
Protein fuzzy homolog
FUZ
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12781.1 [Q9BT04-1]
CCDS54293.1 [Q9BT04-3]

NCBI Reference Sequences

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RefSeqi
NP_001165408.1, NM_001171937.1 [Q9BT04-3]
NP_079405.2, NM_025129.4 [Q9BT04-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000313777; ENSP00000313309; ENSG00000010361 [Q9BT04-1]
ENST00000528094; ENSP00000435177; ENSG00000010361 [Q9BT04-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80199

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80199

UCSC genome browser

More...
UCSCi
uc002ppq.4, human [Q9BT04-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9BT04
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123171, 23 interactors
ComplexPortaliCPX-5001, CPLANE complex
IntActiQ9BT04, 2 interactors
STRINGi9606.ENSP00000313309

PTM databases

iPTMnetiQ9BT04
PhosphoSitePlusiQ9BT04

Polymorphism and mutation databases

BioMutaiFUZ
DMDMi74733071

Proteomic databases

MassIVEiQ9BT04
PaxDbiQ9BT04
PeptideAtlasiQ9BT04
PRIDEiQ9BT04
ProteomicsDBi78936 [Q9BT04-1]
78937 [Q9BT04-2]
78938 [Q9BT04-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
49155, 96 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
80199
DisGeNETi80199
EuPathDBiHostDB:ENSG00000010361.13

GeneCards: human genes, protein and diseases

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GeneCardsi
FUZ
HGNCiHGNC:26219, FUZ
HPAiENSG00000010361, Tissue enriched (testis)
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QVMY, Eukaryota
GeneTreeiENSGT00390000010727
HOGENOMiCLU_041212_1_0_1
InParanoidiQ9BT04
KOiK22861
OMAiYTDCLLA
OrthoDBi723214at2759
PhylomeDBiQ9BT04
TreeFamiTF324763

Enzyme and pathway databases

PathwayCommonsiQ9BT04
ReactomeiR-HSA-5610787, Hedgehog 'off' state

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
80199, 3 hits in 873 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
80199
PharosiQ9BT04, Tbio

Protein Ontology

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PROi
PR:Q9BT04
RNActiQ9BT04, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000010361, Expressed in left testis and 216 other tissues
ExpressionAtlasiQ9BT04, baseline and differential
GenevisibleiQ9BT04, HS

Family and domain databases

InterProiView protein in InterPro
IPR026069, Fuzzy
PANTHERiPTHR13559, PTHR13559, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFUZZY_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BT04
Secondary accession number(s): B2RD86
, B5MDH0, Q6PJY0, Q9H613
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 1, 2001
Last modified: August 12, 2020
This is version 134 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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
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