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Entry version 170 (13 Nov 2019)
Sequence version 2 (12 Apr 2005)
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Protein

Suppressor of fused homolog

Gene

SUFU

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

Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:27234298, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) (PubMed:24311597, PubMed:28965847). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state (PubMed:24311597, PubMed:28965847). Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R (PubMed:24311597, PubMed:28965847). When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A) (PubMed:24311597, PubMed:28965847). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).By similarity11 Publications

<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 - Molecular functioni

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5610780 Degradation of GLI1 by the proteasome
R-HSA-5610783 Degradation of GLI2 by the proteasome
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9UMX1

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9UMX1

<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_and_taxonomy_section">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:
Suppressor of fused homolog2 Publications
Short name:
SUFUH1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SUFU1 PublicationImported
ORF Names:UNQ650/PRO12801 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 10

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:16466 SUFU

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607035 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UMX1

<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

Cytoplasm, Nucleus

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Medulloblastoma (MDB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMalignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
Related information in OMIM
Joubert syndrome 32 (JBTS32)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive.
Related information in OMIM
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_080421176H → R in JBTS32; decreased stability; no effect on nuclear and cytoplasmic localization; decreased interaction with GLI3; no effect on interaction with GLI1; decreased repression of the hedgehog/smoothened signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs1554852272EnsemblClinVar.1
Natural variantiVAR_080426406I → T in JBTS32; decreased stability; forms cytoplasmic aggregates; decreased interaction with GLI3; no effect on interaction with GLI1; decreased repression of the hedgehog/smoothened signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs1554854758EnsemblClinVar.1
Basal cell nevus syndrome (BCNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi106E → A: No effect on down-regulation of GLI1 activity. 1 Publication1
Mutagenesisi111D → A: No effect on down-regulation of GLI1 activity. 1 Publication1
Mutagenesisi128T → A or D: No effect on down-regulation of GLI1 activity. 1 Publication1
Mutagenesisi147Y → R: Impairs interaction with GLI1 and GLI2. Abolishes interaction with GLI1 and GLI2; when associated with R-159 and R-380. 1 Publication1
Mutagenesisi152E → A: No effect on down-regulation of GLI1 activity. 1 Publication1
Mutagenesisi159D → A: Abolishes down-regulation of GLI1 activity. Has only slight effect on GLI1 binding. 1 Publication1
Mutagenesisi159D → R: Impairs interaction with GLI1 and GLI2. Abolishes interaction with GLI1 and GLI2; when associated with R-147 and R-380. 1 Publication1
Mutagenesisi181E → A: No effect on down-regulation of GLI1 activity. 1 Publication1
Mutagenesisi221E → A: No effect on down-regulation of GLI1 activity. 1 Publication1
Mutagenesisi257K → R: Abolishes ubiquitination by the SCF(FBXL17) complex. 1 Publication1
Mutagenesisi262D → A: No effect on down-regulation of GLI1 activity. 1 Publication1
Mutagenesisi342 – 346SRKDS → ARKDA: Increased interaction with FBXL17 and ubiquitination by the SCF(FBXL17) complex. 1 Publication5
Mutagenesisi342 – 346SRKDS → DRKDD: Phosphomimetic mutant; decreased interaction with FBXL17 and ubiquitination by the SCF(FBXL17) complex. 1 Publication5
Mutagenesisi380L → R: Impairs interaction with GLI1 and GLI2. Abolishes interaction with GLI1 and GLI2; when associated with R-147 and R-159. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Tumor suppressor

Organism-specific databases

DisGeNET

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DisGeNETi
51684

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SUFU

MalaCards human disease database

More...
MalaCardsi
SUFU
MIMi109400 phenotype
155255 phenotype
617757 phenotype

Open Targets

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OpenTargetsi
ENSG00000107882

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

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Orphaneti
36 Acrocallosal syndrome
251863 Desmoplastic/nodular medulloblastoma
263662 Familial multiple meningioma
377 Gorlin syndrome
251858 Medulloblastoma with extensive nodularity
2495 Meningioma
280200 Microform holoprosencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38146

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9UMX1

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5390

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SUFU

Domain mapping of disease mutations (DMDM)

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DMDMi
62511179

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000723021 – 484Suppressor of fused homologAdd BLAST484

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki257Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei301PhosphoserineCombined sources1
Modified residuei303N6-acetyllysineCombined sources1
Cross-linki321Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei342PhosphoserineCombined sources1 Publication1
Modified residuei346PhosphoserineCombined sources1 Publication1
Modified residuei352Phosphoserine1 Publication1
Modified residuei353Phosphothreonine1 Publication1
Modified residuei481PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Polyubiquitinated at Lys-257 by the SCF(FBXL17) complex, leading to its subsequent degradation and allowing the release of GLI1 for proper hedgehog/smoothened signal transduction (PubMed:27234298). Ubiquitination is impaired by phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 (PubMed:27234298).1 Publication
Phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 prevents ubiquitination by the SCF(FBXL17) complex.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-1329

Encyclopedia of Proteome Dynamics

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EPDi
Q9UMX1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UMX1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9UMX1

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

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PaxDbi
Q9UMX1

PeptideAtlas

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PeptideAtlasi
Q9UMX1

PRoteomics IDEntifications database

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PRIDEi
Q9UMX1

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
85217 [Q9UMX1-1]
85218 [Q9UMX1-2]
85219 [Q9UMX1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UMX1

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

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PhosphoSitePlusi
Q9UMX1

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal testis, and at much lower levels in fetal brain, lung and kidney.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000107882 Expressed in 187 organ(s), highest expression level in layer of synovial tissue

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UMX1 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA008700

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May form homodimers (PubMed:10564661).

Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3 (By similarity).

Part of a complex containing CTNNB1 (By similarity). Binds BTRC, GLI2, GLI3, SAP18 and STK36 (PubMed:10564661, PubMed:10806483). Binds both free and DNA-bound GLI1 (PubMed:10559945, PubMed:15367681, PubMed:24217340, PubMed:24311597, PubMed:28965847).

Interacts with KIF7 (By similarity).

Interacts with GLI3FL and this interaction regulates the formation of either repressor or activator forms of GLI3 (PubMed:24311597, PubMed:28965847). Its association with GLI3FL is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A (PubMed:24311597, PubMed:28965847).

Interacts with ULK3; inactivating the protein kinase activity of ULK3 (PubMed:20643644).

Interacts with RAB23 (PubMed:22365972).

By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119676, 48 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-148 GLI2-SUFU complex
CPX-150 GLI3-SUFU complex
CPX-56 GLI1-SUFU complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UMX1

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9UMX1

Protein interaction database and analysis system

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IntActi
Q9UMX1, 62 interactors

Molecular INTeraction database

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MINTi
Q9UMX1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000358918

<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

Secondary structure

1484
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9UMX1

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9UMX1

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni279 – 360Intrinsically disordered1 PublicationAdd BLAST82

<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 SUFU family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFRJ Eukaryota
ENOG410XRUC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000009747

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UMX1

KEGG Orthology (KO)

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KOi
K06229

Identification of Orthologs from Complete Genome Data

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OMAi
GDNIPWR

Database of Orthologous Groups

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OrthoDBi
1248959at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UMX1

TreeFam database of animal gene trees

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TreeFami
TF324548

Family and domain databases

Database of protein disorder

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DisProti
DP01312

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.1360.230, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR020941 SUFU-like_domain
IPR024314 SUFU_C
IPR038489 SUFU_C_sf
IPR037181 SUFU_N
IPR007768 Suppressor_of_fused
IPR016591 Suppressor_of_fused_euk

The PANTHER Classification System

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PANTHERi
PTHR10928 PTHR10928, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF05076 SUFU, 1 hit
PF12470 SUFU_C, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF011844 Suppressor_of_fused_protein, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF103359 SSF103359, 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9UMX1-1) [UniParc]FASTAAdd to basket
Also known as: Su(fu)484

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
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MAELRPSGAP GPTAPPAPGP TAPPAFASLF PPGLHAIYGE CRRLYPDQPN
60 70 80 90 100
PLQVTAIVKY WLGGPDPLDY VSMYRNVGSP SANIPEHWHY ISFGLSDLYG
110 120 130 140 150
DNRVHEFTGT DGPSGFGFEL TFRLKRETGE SAPPTWPAEL MQGLARYVFQ
160 170 180 190 200
SENTFCSGDH VSWHSPLDNS ESRIQHMLLT EDPQMQPVQT PFGVVTFLQI
210 220 230 240 250
VGVCTEELHS AQQWNGQGIL ELLRTVPIAG GPWLITDMRR GETIFEIDPH
260 270 280 290 300
LQERVDKGIE TDGSNLSGVS AKCAWDDLSR PPEDDEDSRS ICIGTQPRRL
310 320 330 340 350
SGKDTEQIRE TLRRGLEINS KPVLPPINPQ RQNGLAHDRA PSRKDSLESD
360 370 380 390 400
SSTAIIPHEL IRTRQLESVH LKFNQESGAL IPLCLRGRLL HGRHFTYKSI
410 420 430 440 450
TGDMAITFVS TGVEGAFATE EHPYAAHGPW LQILLTEEFV EKMLEDLEDL
460 470 480
TSPEEFKLPK EYSWPEKKLK VSILPDVVFD SPLH
Note: Major isoform.
Length:484
Mass (Da):53,947
Last modified:April 12, 2005 - v2
<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:i4A9CD1CF75FC179A
GO
Isoform 2 (identifier: Q9UMX1-2) [UniParc]FASTAAdd to basket
Also known as: Su(fu)433

The sequence of this isoform differs from the canonical sequence as follows:
     433-433: I → L
     434-484: Missing.

Show »
Length:433
Mass (Da):47,932
Checksum:i40CF1CDD5F526102
GO
Isoform 3 (identifier: Q9UMX1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     433-484: ILLTEEFVEK...PDVVFDSPLH → VRRPFFFSLL...LMDSGPGACV

Show »
Length:481
Mass (Da):52,977
Checksum:i7B312507FF653923
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti336A → P in AAD50501 (PubMed:10559945).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02156615P → L1 PublicationCorresponds to variant dbSNP:rs28942088EnsemblClinVar.1
Natural variantiVAR_08041819G → V1 Publication1
Natural variantiVAR_08041937I → V1 PublicationCorresponds to variant dbSNP:rs745793517Ensembl.1
Natural variantiVAR_08042077V → M1 Publication1
Natural variantiVAR_080421176H → R in JBTS32; decreased stability; no effect on nuclear and cytoplasmic localization; decreased interaction with GLI3; no effect on interaction with GLI1; decreased repression of the hedgehog/smoothened signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs1554852272EnsemblClinVar.1
Natural variantiVAR_080422289R → Q1 PublicationCorresponds to variant dbSNP:rs149016373EnsemblClinVar.1
Natural variantiVAR_080423293I → V1 PublicationCorresponds to variant dbSNP:rs574002050Ensembl.1
Natural variantiVAR_080424299 – 484Missing 1 PublicationAdd BLAST186
Natural variantiVAR_021567340A → S1 PublicationCorresponds to variant dbSNP:rs34135067EnsemblClinVar.1
Natural variantiVAR_080425382P → L1 PublicationCorresponds to variant dbSNP:rs1401882800Ensembl.1
Natural variantiVAR_080426406I → T in JBTS32; decreased stability; forms cytoplasmic aggregates; decreased interaction with GLI3; no effect on interaction with GLI1; decreased repression of the hedgehog/smoothened signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs1554854758EnsemblClinVar.1
Natural variantiVAR_080427442K → R1 PublicationCorresponds to variant dbSNP:rs772598739Ensembl.1
Natural variantiVAR_080428481S → N1 Publication1

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_013280433 – 484ILLTE…DSPLH → VRRPFFFSLLPFIDFLAHPS SSPLAALDGTPSWGAGHECL MDSGPGACV in isoform 3. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_013278433I → L in isoform 2. 2 Publications1
Alternative sequenceiVSP_013279434 – 484Missing in isoform 2. 2 PublicationsAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF144231 mRNA Translation: AAF23890.1
AF159447 mRNA Translation: AAF23893.1
AF222345 mRNA Translation: AAF35866.1
AF175770 mRNA Translation: AAD50501.1
AY081829
, AY081818, AY081819, AY081820, AY081822, AY081824, AY081825, AY081821, AY081823, AY081826, AY081828, AY081827 Genomic DNA Translation: AAM08947.1
AY358550 mRNA Translation: AAQ88914.1
AL121928 Genomic DNA No translation available.
AL157386 Genomic DNA No translation available.
AL391121 Genomic DNA No translation available.
BC013291 mRNA Translation: AAH13291.1
AF172319 mRNA Translation: AAD51655.1
AL137465 mRNA Translation: CAB70752.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53571.1 [Q9UMX1-2]
CCDS7537.1 [Q9UMX1-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46409

NCBI Reference Sequences

More...
RefSeqi
NP_001171604.1, NM_001178133.1 [Q9UMX1-2]
NP_057253.2, NM_016169.3 [Q9UMX1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369899; ENSP00000358915; ENSG00000107882 [Q9UMX1-2]
ENST00000369902; ENSP00000358918; ENSG00000107882 [Q9UMX1-1]
ENST00000423559; ENSP00000411597; ENSG00000107882 [Q9UMX1-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51684

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51684

UCSC genome browser

More...
UCSCi
uc001kvw.3 human [Q9UMX1-1]

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
AF144231 mRNA Translation: AAF23890.1
AF159447 mRNA Translation: AAF23893.1
AF222345 mRNA Translation: AAF35866.1
AF175770 mRNA Translation: AAD50501.1
AY081829
, AY081818, AY081819, AY081820, AY081822, AY081824, AY081825, AY081821, AY081823, AY081826, AY081828, AY081827 Genomic DNA Translation: AAM08947.1
AY358550 mRNA Translation: AAQ88914.1
AL121928 Genomic DNA No translation available.
AL157386 Genomic DNA No translation available.
AL391121 Genomic DNA No translation available.
BC013291 mRNA Translation: AAH13291.1
AF172319 mRNA Translation: AAD51655.1
AL137465 mRNA Translation: CAB70752.1
CCDSiCCDS53571.1 [Q9UMX1-2]
CCDS7537.1 [Q9UMX1-1]
PIRiT46409
RefSeqiNP_001171604.1, NM_001178133.1 [Q9UMX1-2]
NP_057253.2, NM_016169.3 [Q9UMX1-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M1LX-ray2.65A/B/C/D27-262[»]
4BL8X-ray3.04A/B32-483[»]
4BL9X-ray2.80A/B/C/D32-278[»]
A/B/C/D361-483[»]
4BLAX-ray3.50A/B/C/D32-278[»]
A/B/C/D361-483[»]
4BLBX-ray2.80A/B/C/D32-278[»]
A/B/C/D361-483[»]
4BLDX-ray2.80A/B/C/D32-278[»]
A/B/C/D361-483[»]
4KM8X-ray2.26A1-484[»]
4KM9X-ray3.19A1-484[»]
4KMDX-ray1.70A1-484[»]
4KMHX-ray3.04A/B1-484[»]
SMRiQ9UMX1
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi119676, 48 interactors
ComplexPortaliCPX-148 GLI2-SUFU complex
CPX-150 GLI3-SUFU complex
CPX-56 GLI1-SUFU complex
CORUMiQ9UMX1
ELMiQ9UMX1
IntActiQ9UMX1, 62 interactors
MINTiQ9UMX1
STRINGi9606.ENSP00000358918

Chemistry databases

ChEMBLiCHEMBL5390

PTM databases

iPTMnetiQ9UMX1
PhosphoSitePlusiQ9UMX1

Polymorphism and mutation databases

BioMutaiSUFU
DMDMi62511179

Proteomic databases

CPTACiCPTAC-1329
EPDiQ9UMX1
jPOSTiQ9UMX1
MassIVEiQ9UMX1
PaxDbiQ9UMX1
PeptideAtlasiQ9UMX1
PRIDEiQ9UMX1
ProteomicsDBi85217 [Q9UMX1-1]
85218 [Q9UMX1-2]
85219 [Q9UMX1-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
51684

Genome annotation databases

EnsembliENST00000369899; ENSP00000358915; ENSG00000107882 [Q9UMX1-2]
ENST00000369902; ENSP00000358918; ENSG00000107882 [Q9UMX1-1]
ENST00000423559; ENSP00000411597; ENSG00000107882 [Q9UMX1-3]
GeneIDi51684
KEGGihsa:51684
UCSCiuc001kvw.3 human [Q9UMX1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51684
DisGeNETi51684

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SUFU
GeneReviewsiSUFU
HGNCiHGNC:16466 SUFU
HPAiHPA008700
MalaCardsiSUFU
MIMi109400 phenotype
155255 phenotype
607035 gene
617757 phenotype
neXtProtiNX_Q9UMX1
OpenTargetsiENSG00000107882
Orphaneti36 Acrocallosal syndrome
251863 Desmoplastic/nodular medulloblastoma
263662 Familial multiple meningioma
377 Gorlin syndrome
251858 Medulloblastoma with extensive nodularity
2495 Meningioma
280200 Microform holoprosencephaly
PharmGKBiPA38146

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFRJ Eukaryota
ENOG410XRUC LUCA
GeneTreeiENSGT00390000009747
InParanoidiQ9UMX1
KOiK06229
OMAiGDNIPWR
OrthoDBi1248959at2759
PhylomeDBiQ9UMX1
TreeFamiTF324548

Enzyme and pathway databases

ReactomeiR-HSA-5610780 Degradation of GLI1 by the proteasome
R-HSA-5610783 Degradation of GLI2 by the proteasome
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state
SignaLinkiQ9UMX1
SIGNORiQ9UMX1

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SUFU human
EvolutionaryTraceiQ9UMX1

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SUFU

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

More...
GenomeRNAii
51684
PharosiQ9UMX1

Protein Ontology

More...
PROi
PR:Q9UMX1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107882 Expressed in 187 organ(s), highest expression level in layer of synovial tissue
GenevisibleiQ9UMX1 HS

Family and domain databases

DisProtiDP01312
Gene3Di3.30.1360.230, 1 hit
InterProiView protein in InterPro
IPR020941 SUFU-like_domain
IPR024314 SUFU_C
IPR038489 SUFU_C_sf
IPR037181 SUFU_N
IPR007768 Suppressor_of_fused
IPR016591 Suppressor_of_fused_euk
PANTHERiPTHR10928 PTHR10928, 1 hit
PfamiView protein in Pfam
PF05076 SUFU, 1 hit
PF12470 SUFU_C, 1 hit
PIRSFiPIRSF011844 Suppressor_of_fused_protein, 1 hit
SUPFAMiSSF103359 SSF103359, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiSUFU_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: Q9UMX1
Secondary accession number(s): Q7LCP7
, Q9NT90, Q9NZ07, Q9UHK2, Q9UHM8, Q9UMY0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: April 12, 2005
Last modified: November 13, 2019
This is version 170 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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