Dachshund 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

• DNA binding Source: UniProtKB-KW
• transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • 20956529
• transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly Source: GO_Central

GO - Biological processⁱ

• cell proliferation Source: Ensembl
• development of primary female sexual characteristics Source: Ensembl
• multicellular organism development Source: GO_Central
• negative regulation of cell migration Source: BHF-UCLInferred from direct assayⁱ
  • 20956529
• negative regulation of cell proliferation involved in contact inhibition Source: Ensembl
• negative regulation of DNA biosynthetic process Source: CACAOInferred from direct assayⁱ
  • 16980615
• negative regulation of fibroblast proliferation Source: Ensembl
• negative regulation of transcription, DNA-templated Source: CACAO <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • 21750150
• negative regulation of transcription by competitive promoter binding Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 20956529
• regulation of nuclear cell cycle DNA replication Source: Ensembl
• respiratory gaseous exchange Source: Ensembl
• suckling behavior 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

Keywords - Cellular componentⁱ

<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

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

<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

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 '<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

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

Secondary structure

3D structure databases

Miscellaneous 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

Region

Coiled coil

Compositional bias

<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

<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

Keywords - 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 <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MAVPAALIPP TQLVPPQPPI STSASSSGTT TSTSSATSSP APSIGPPASS 
        60         70         80         90        100
GPTLFRPEPI ASAAAAAATV TSTGGGGGGG GSGGGGGSSG NGGGGGGGGG 
       110        120        130        140        150
GSNCNPNLAA ASNGSGGGGG GISAGGGVAS STPINASTGS SSSSSSSSSS 
       160        170        180        190        200
SSSSSSSSSS SSSCGPLPGK PVYSTPSPVE NTPQNNECKM VDLRGAKVAS 
       210        220        230        240        250
FTVEGCELIC LPQAFDLFLK HLVGGLHTVY TKLKRLEITP VVCNVEQVRI 
       260        270        280        290        300
LRGLGAIQPG VNRCKLISRK DFETLYNDCT NASSRPGRPP KRTQSVTSPE 
       310        320        330        340        350
NSHIMPHSVP GLMSPGIIPP TGLTAAAAAA AAATNAAIAE AMKVKKIKLE 
       360        370        380        390        400
AMSNYHASNN QHGADSENGD MNSSVGSSDG SWDKETLPSS PSQGPQASIT 
       410        420        430        440        450
HPRMPGARSL PLSHPLNHLQ QSHLLPNGLE LPFMMMPHPL IPVSLPPASV 
       460        470        480        490        500
TMAMSQMNHL STIANMAAAA QVQSPPSRVE TSVIKERVPD SPSPAPSLEE 
       510        520        530        540        550
GRRPGSHPSS HRSSSVSSSP ARTESSSDRI PVHQNGLSMN QMLMGLSPNV 
       560        570        580        590        600
LPGPKEGDLA GHDMGHESKR MHIEKDETPL STPTARDSLD KLSLTGHGQP 
       610        620        630        640        650
LPPGFPSPFL FPDGLSSIET LLTNIQGLLK VAIDNARAQE KQVQLEKTEL 
       660        670        680        690        700
KMDFLREREL RETLEKQLAM EQKNRAIVQK RLKKEKKAKR KLQEALEFET 
       710        720        730        740        750
KRREQAEQTL KQAASTDSLR VLNDSLTPEI EADRSGGRTD AERTIQDGRL 

YLKTTVMY                                               

        10         20         30         40         50
MAVPAALIPP TQLVPPQPPI STSASSSGTT TSTSSATSSP APSIGPPASS 
        60         70         80         90        100
GPTLFRPEPI ASAAAAAATV TSTGGGGGGG GSGGGGGSSG NGGGGGGGGG 
       110        120        130        140        150
GSNCNPNLAA ASNGSGGGGG GISAGGGVAS STPINASTGS SSSSSSSSSS 
       160        170        180        190        200
SSSSSSSSSS SSSCGPLPGK PVYSTPSPVE NTPQNNECKM VDLRGAKVAS 
       210        220        230        240        250
FTVEGCELIC LPQAFDLFLK HLVGGLHTVY TKLKRLEITP VVCNVEQVRI 
       260        270        280        290        300
LRGLGAIQPG VNRCKLISRK DFETLYNDCT NASSRPGRPP KRTQSVTSPE 
       310        320        330        340        350
NSHIMPHSVP GLMSPGIIPP TGLTAAAAAA AAATNAAIAE AMKVKKIKLE 
       360        370        380        390        400
AMSNYHASNN QHGADSENGD MNSSVGLELP FMMMPHPLIP VSLPPASVTM 
       410        420        430        440        450
AMSQMNHLST IANMAAAAQV QSPPSRVETS VIKERVPDSP SPAPSLEEGR 
       460        470        480        490        500
RPGSHPSSHR SSSVSSSPAR TESSSDRIPV HQNGLSMNQM LMGLSPNVLP 
       510        520        530        540        550
GPKEGDLAGH DMGHESKRMH IEKDETPLST PTARDSLDKL SLTGHGQPLP 
       560        570        580        590        600
PGFPSPFLFP DGLSSIETLL TNIQGLLKVA IDNARAQEKQ VQLEKTELKM 
       610        620        630        640        650
DFLRERELRE TLEKQLAMEQ KNRAIVQKRL KKEKKAKRKL QEALEFETKR 
       660        670        680        690        700
REQAEQTLKQ AASTDSLRVL NDSLTPEIEA DRSGGRTDAE RTIQDGRLYL 

KTTVMY                                                 

        10         20         30         40         50
MAVPAALIPP TQLVPPQPPI STSASSSGTT TSTSSATSSP APSIGPPASS 
        60         70         80         90        100
GPTLFRPEPI ASAAAAAATV TSTGGGGGGG GSGGGGGSSG NGGGGGGGGG 
       110        120        130        140        150
GSNCNPNLAA ASNGSGGGGG GISAGGGVAS STPINASTGS SSSSSSSSSS 
       160        170        180        190        200
SSSSSSSSSS SSSCGPLPGK PVYSTPSPVE NTPQNNECKM VDLRGAKVAS 
       210        220        230        240        250
FTVEGCELIC LPQAFDLFLK HLVGGLHTVY TKLKRLEITP VVCNVEQVRI 
       260        270        280        290        300
LRGLGAIQPG VNRCKLISRK DFETLYNDCT NASSRPGRPP KRTQSVTSPE 
       310        320        330        340        350
NSHIMPHSVP GLMSPGIIPP TGLTAAAAAA AAATNAAIAE AMKVKKIKLE 
       360        370        380        390        400
AMSNYHASNN QHGADSENGD MNSSVDETPL STPTARDSLD KLSLTGHGQP 
       410        420        430        440        450
LPPGFPSPFL FPDGLSSIET LLTNIQGLLK VAIDNARAQE KQVQLEKTEL 
       460        470        480        490        500
KMDFLREREL RETLEKQLAM EQKNRAIVQK RLKKEKKAKR KLQEALEFET 
       510        520        530        540        550
KRREQAEQTL KQAASTDSLR VLNDSLTPEI EADRSGGRTD AERTIQDGRL 

YLKTTVMY                                               

        10         20         30         40         50
MAVPAALIPP TQLVPPQPPI STSASSSGTT TSTSSATSSP APSIGPPASS 
        60         70         80         90        100
GPTLFRPEPI ASAAAAAATV TSTGGGGGGG GSGGGGGSSG NGGGGGGGGG 
       110        120        130        140        150
GSNCNPNLAA ASNGSGGGGG GISAGGGVAS STPINASTGS SSSSSSSSSS 
       160        170        180        190        200
SSSSSSSSSS SSSCGPLPGK PVYSTPSPVE NTPQNNECKM VDLRGAKVAS 
       210        220        230        240        250
FTVEGCELIC LPQAFDLFLK HLVGGLHTVY TKLKRLEITP VVCNVEQVRI 
       260        270        280        290        300
LRGLGAIQPG VNRCKLISRK DFETLYNDCT NASSRPGRPP KRTQSVTSPE 
       310        320        330        340        350
NSHIMPHSVP GLMSPGIIPP TDETPLSTPT ARDSLDKLSL TGHGQPLPPG 
       360        370        380        390        400
FPSPFLFPDG LSSIETLLTN IQGLLKVAID NARAQEKQVQ LEKTELKMDF 
       410        420        430        440        450
LRERELRETL EKQLAMEQKN RAIVQKRLKK EKKAKRKLQE ALEFETKRRE 
       460        470        480        490        500
QAEQTLKQAA STDSLRVLND SLTPEIEADR SGGRTDAERT IQDGRLYLKT 

TVMY                                                   

<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

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<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

• 90% Identity
• 50% Identity

<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

Keywords - Technical termⁱ

Documents

1. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
2. SIMILARITY comments
   Index of protein domains and families
3. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
4. Human chromosome 13
   Human chromosome 13: entries, gene names and cross-references to MIM
5. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot