Disabled homolog 1

<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

<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

• phosphatidylinositol 3-kinase binding Source: Ensembl

<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

• adult walking behavior Source: Ensembl
• axon guidance Source: Reactome
• cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration Source: Ensembl
• cerebellum structural organization Source: Ensembl
• dendrite development Source: Ensembl
• Golgi localization Source: Ensembl
• lateral motor column neuron migration Source: Ensembl
• midgut development Source: Ensembl
• negative regulation of astrocyte differentiation Source: Ensembl
• negative regulation of axonogenesis Source: Ensembl
• negative regulation of cell adhesion Source: Ensembl
• negative regulation of JAK-STAT cascade Source: Ensembl
• positive regulation of neuron differentiation Source: Ensembl
• positive regulation of protein kinase activity Source: Ensembl
• radial glia guided migration of Purkinje cell Source: Ensembl
• response to drug Source: Ensembl
• small GTPase mediated signal transduction Source: Ensembl
• ventral spinal cord development Source: Ensembl

<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

Enzyme and pathway databases

<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

Organism-specific databases

<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

<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 - Cellular componentⁱ

• apical part of cell Source: Ensembl
• brush border Source: Ensembl
• cytosol Source: Reactome
• intracellular membrane-bounded organelle Source: HPA
• membrane Source: Ensembl
• neuronal cell body Source: Ensembl
• neuron projection Source: Ensembl
• perinuclear region of cytoplasm Source: Ensembl
• postsynaptic density Source: Ensembl

<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

Polymorphism and mutation databases

<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

Amino acid modifications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section"><span class="caps">PTM</span>/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

<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>Keywords - PTMⁱ

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

<p>This subsection of the ‘Interaction’ 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

<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

• phosphatidylinositol 3-kinase binding Source: Ensembl

Protein-protein interaction databases

<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

<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

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domainⁱ

Phylogenomic databases

Family and domain databases

<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 length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6)ⁱ

<p>This subsection of the ‘Sequence’ 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 6 <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 basketAdded to basket

        10         20         30         40         50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID 
        60         70         80         90        100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK 
       110        120        130        140        150
TGALQHHHAV HEISYIAKDI TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV 
       160        170        180        190        200
ILDLRDLFQL IYELKQREEL EKKAQKDKQC EQAVYQTILE EDVEDPVYQY 
       210        220        230        240        250
IVFEAGHEPI RDPETEENIY QVPTSQKKEG VYDVPKSQPV SNGYSFEDFE 
       260        270        280        290        300
ERFAAATPNR NLPTDFDEIF EATKAVTQLE LFGDMSTPPD ITSPPTPATP 
       310        320        330        340        350
GDAFIPSSSQ TLPASADVFS SVPFGTAAVP SGYVAMGAVL PSFWGQQPLV 
       360        370        380        390        400
QQQMVMGAQP PVAQVMPGAQ PIAWGQPGLF PATQQPWPTV AGQFPPAAFM 
       410        420        430        440        450
PTQTVMPLPA AMFQGPLTPL ATVPGTSDST RSSPQTDKPR QKMGKETFKD 
       460        470        480        490        500
FQMAQPPPVP SRKPDQPSLT CTSEAFSSYF NKVGVAQDTD DCDDFDISQL 
       510        520        530        540        550
NLTPVTSTTP STNSPPTPAP RQSSPSKSSA SHASDPTTDD IFEEGFESPS 
       560        570        580 
KSEEQEAPDG SQASSNSDPF GEPSGEPSGD NISPQAGS            

        10         20         30         40         50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID 
        60         70         80         90        100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK 
       110        120        130        140        150
TGALQHHHAV HEISYIAKDI TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV 
       160        170        180        190        200
ILDLRDLFQL IYELKQREEL EKKAQKDKQC EQAVYQTILE EDVEDPVYQV 
       210 
ISETSRGFRF KSD                                  

        10         20         30         40         50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID 
        60         70         80         90        100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK 
       110        120        130        140        150
TGVPTSQKKE GVYDVPKSQP VSNGYSFEDF EERFAAATPN RNLPTDFDEI 
       160        170        180        190        200
FEATKAVTQL ELFGDMSTPP DITSPPTPAT PGDAFIPSSS QTLPASADVF 
       210        220        230        240        250
SSVPFGTAAV PSGYVAMGAV LPSFWGQQPL VQQQMVMGAQ PPVAQVMPGA 
       260        270        280        290        300
QPIAWGQPGL FPATQQPWPT VAGQFPPAAF MPTQTVMPLP AAMFQGPLTP 
       310        320        330        340        350
LATVPGTSDS TRSSPQTDKP RQKMGKETFK DFQMAQPPPV PSRKPDQPSL 
       360        370        380        390        400
TCTSEAFSSY FNKVGVAQDT DDCDDFDISQ LNLTPVTSTT PSTNSPPTPA 
       410        420        430        440        450
PRQSSPSKSS ASHASDPTTD DIFEEGFESP SKSEEQEAPD GSQASSNSDP 
       460 
FGEPSGEPSG DNISPQAGS                                  

        10         20         30         40         50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID 
        60         70         80         90        100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK 
       110        120        130        140        150
TGALQHHHAV HEISYIAKDI TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV 
       160        170        180        190        200
ILDLRDLFQL IYELKQREEL EKKAQKDKQC EQAVYQVPTS QKKEGVYDVP 
       210        220        230        240        250
KSQPVSNGYS FEDFEERFAA ATPAVTQLEL FGDMSTPPDI TSPPTPATPG 
       260        270        280        290        300
DAFIPSSSQT LPASADVFSS VPFGTAAVPS GYVAMGAVLP SFWGQQPLVQ 
       310        320        330        340        350
QQMVMGAQPP VAQVMPGAQP IAWGQPGLFP ATQQPWPTVA GQFPPAAFMP 
       360        370        380        390        400
TQTVMPLPAA MFQGPLTPLA TVPGTSDSTR SSPQTDKPRQ KMGKETFKDF 
       410        420        430        440        450
QMAQPPPVPS RKPDQPSLTC TSEAFSSYFN KVGVAQDTDD CDDFDISQLN 
       460        470        480        490        500
LTPVTSTTPS TNSPPTPAPR QSSPSKSSAS HASDPTTDDI FEEGFESPSK 
       510        520        530 
SEEQEAPDGS QASSNSDPFG EPSGEPSGDN ISPQAGS            

        10         20         30         40         50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID 
        60         70         80         90        100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK 
       110        120        130        140        150
TGALQHHHAV HEISYIAKDI TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV 
       160        170        180        190        200
ILDLRDLFQL IYELKQREEL EKKAQKDKQC EQAVYQVPTS QKKEGVYDVP 
       210        220        230        240        250
KSQPVSNGYS FEDFEERFAA ATPNRNLPTD FDEIFEATKA VTQLELFGDM 
       260        270        280        290        300
STPPDITSPP TPATPGDAFI PSSSQTLPAS ADVFSSVPFG TAAVPSGYVA 
       310        320        330        340        350
MGAVLPSFWG QQPLVQQQMV MGAQPPVAQV MPGAQPIAWG QPGLFPATQQ 
       360        370        380        390        400
PWPTVAGQFP PAAFMPTQTV MPLPAAMFQG PLTPLATVPG TSDSTRSSPQ 
       410        420        430        440        450
TDKPRQKMGK ETFKDFQMAQ PPPVPSRKPD QPSLTCTSEA FSSYFNKVGV 
       460        470        480        490        500
AQDTDDCDDF DISQLNLTPV TSTTPSTNSP PTPAPRQSSP SKSSASHASD 
       510        520        530        540        550
PTTDDIFEEG FESPSKSEEQ EAPDGSQASS NSDPFGEPSG EPSGDNISPQ 

AGS                                             

        10         20         30         40         50
MSTETELQVA VKTSAKKDSR KKGQDRSEAT LIKRFKGEGV RYKAKLIGID 
        60         70         80         90        100
EVSAARGDKL CQDSMMKLKG VVAGARSKGE HKQKIFLTIS FGGIKIFDEK 
       110        120        130        140        150
TGALQHHHAV HEISYIAKDI TDHRAFGYVC GKEGNHRFVA IKTAQAAEPV 
       160        170        180        190        200
ILDLRDLFQL IYELKQREEL EKKAQKDKQC EQAVYQTILE EDVEDPVYQY 
       210        220        230        240        250
IVFEAGHEPI RDPETEENIY QVPTSQKKEG VYDVPKSQPV SAVTQLELFG 
       260        270        280        290        300
DMSTPPDITS PPTPATPGDA FIPSSSQTLP ASADVFSSVP FGTAAVPSGY 
       310        320        330        340        350
VAMGAVLPSF WGQQPLVQQQ MVMGAQPPVA QVMPGAQPIA WGQPGLFPAT 
       360        370        380        390        400
QQPWPTVAGQ FPPAAFMPTQ TVMPLPAAMF QGPLTPLATV PGTSDSTRSS 
       410        420        430        440        450
PQTDKPRQKM GKETFKDFQM AQPPPVPSRK PDQPSLTCTS EAFSSYFNKV 
       460        470        480        490        500
GVAQDTDDCD DFDISQLNLT PVTSTTPSTN SPPTPAPRQS SPSKSSASHA 
       510        520        530        540        550
SDPTTDDIFE EGFESPSKSE EQEAPDGSQA SSNSDPFGEP SGEPSGDNIS 

PQAGS                                             

<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

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<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>Keywords - Coding sequence diversityⁱ

<p>This section provides links to the UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

<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>Keywords - Technical termⁱ

Documents

1. Human chromosome 1
   Human chromosome 1: 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