Oral-facial-digital syndrome 1 protein homolog

<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 - Biological processⁱ

• cell projection organization Source: UniProtKB-KW
• convergent extension Source: ZFIN <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%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators."
    Liu Y.P., Tsai I.C., Morleo M., Oh E.C., Leitch C.C., Massa F., Lee B.H., Parker D.S., Finley D., Zaghloul N.A., Franco B., Katsanis N.
    J Clin Invest 124:2059-2070(2014) [PubMed] [Europe PMC] [Abstract]
• convergent extension involved in gastrulation Source: ZFINInferred from mutant phenotypeⁱ
  • "Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene."
    Ferrante M.I., Romio L., Castro S., Collins J.E., Goulding D.A., Stemple D.L., Woolf A.S., Wilson S.W.
    Hum Mol Genet 18:289-303(2009) [PubMed] [Europe PMC] [Abstract]
• determination of heart left/right asymmetry Source: ZFINInferred from mutant phenotypeⁱ
  • "Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1."
    Lopes C.A., Prosser S.L., Romio L., Hirst R.A., O'Callaghan C., Woolf A.S., Fry A.M.
    J Cell Sci 124:600-612(2011) [PubMed] [Europe PMC] [Abstract]
• epithelial cilium movement involved in determination of left/right asymmetry Source: ZFINInferred from mutant phenotypeⁱ
  • "Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene."
    Ferrante M.I., Romio L., Castro S., Collins J.E., Goulding D.A., Stemple D.L., Woolf A.S., Wilson S.W.
    Hum Mol Genet 18:289-303(2009) [PubMed] [Europe PMC] [Abstract]

<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

<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

• UniProt annotation
• GO - Cellular component

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

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

<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

Proteomic 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

<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

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

Coiled coil

<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%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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MSASKEESLS PDEMRQKLYQ TFKSRGLLDT LKTQLRNQLI QELQAPVRRG 
        60         70         80         90        100
ESASRRSADH TDSVLVSACN SVVVDHLRSA GYEYTLSVFQ PECGLSKDKV 
       110        120        130        140        150
LSSRDVLQIM KISPHMPLYK SLVSNIQSGQ SGFLKSLLME LTDHSVYRDC 
       160        170        180        190        200
SDNSTQTTSI AAHKESLVEK MQLIDEEYEV LRHRGDRWAS VEAKLAEYRK 
       210        220        230        240        250
EIQEQAQIEL NAKLQHFMDV EIAKVKQEEK ERSRKEILEL RRDMEKTYEL 
       260        270        280        290        300
KSEALISREK NAIERLQKHQ EIEEKDIYAQ RQAVLREIES VRSREMELRQ 
       310        320        330        340        350
RMEAFDKSCA LHEEKVKTME DLLRRRELSV KTMEDSFEQK LKSELLKYQL 
       360        370        380        390        400
ELKEENMKRP EKLTENEERI RAEAARLQKE AAVVDAKTED YERKSSEVKQ 
       410        420        430        440        450
LLMELESSRS QASLLKQQKE LLREQLENMR DYPELKKHTL ELQTRISLLK 
       460        470        480        490        500
QQLEEKQQHN QRLTQELSAP SHEHLMLQAE LRRLEAEHKL EKEELETQKN 
       510        520        530        540        550
VLHTQLQHEV QQCALLKTQL MECEERTKWM NTHTEELKLQ LQQTQQGPAL 
       560        570        580        590        600
RGPKSRTVAP EHDSDMVISA LSRIRELEQE AERLEEAYRS HQQRALSAED 
       610        620        630        640        650
PTLHRGSQNY SRATAAQQHR VISRSPIFAG RPIEEEHEEF SRTPSPAERL 
       660        670        680        690        700
ASPPARRLSS TPQSASRSKR RADEEHDEHS LNPECVKGSS NTDRPALMFP 
       710        720        730        740        750
ERLISPIPAE ELSSSISPNS PVMKSTTRHT QSPAKLQEIL LSSSSQESSP 
       760        770        780        790        800
QPEKITLHDL TEPIQMVSAD QPCLLKDCEP ELQQDHPDVQ ISSSSSSSSS 
       810        820        830        840        850
SQREEEQQRE THTLQQQPHE EQTQEQRDDA GGHVTSAASP TGGAEEANPL 
       860        870        880        890        900
QRYMQMLMQD KQQEQSPNKE SSGSHEENLQ SESHEHSAGV ISHDEADDDF 

W                                                      

Sequence databases

<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

Proteomic databases

Organism-specific databases

Phylogenomic databases

Miscellaneous 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. SIMILARITY comments
   Index of protein domains and families