InnateDB Protein
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IDBP-100949.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ALX3
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Protein Name
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ALX homeobox 3
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Synonyms
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FND; FND1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000358807
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InnateDB Gene
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IDBG-100947 (ALX3)
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Protein Structure
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Function |
Transcriptional regulator with a possible role in patterning of mesoderm during development. {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.
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Disease Associations |
Frontonasal dysplasia 1 (FND1) [MIM:136760]: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. {ECO:0000269PubMed:19409524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0003677
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DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0043565
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sequence-specific DNA binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001356
Homeobox domain
IPR009057
Homeodomain-like
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PFAM |
PF00046
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PRINTS |
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PIRSF |
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SMART |
SM00389
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TIGRFAMs |
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Modification |
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SwissProt |
O95076
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PhosphoSite |
PhosphoSite-O95076
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
257
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UniGene |
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RefSeq |
NP_006483
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HUGO |
HGNC:449
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OMIM |
606014
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CCDS |
CCDS819
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HPRD |
16190
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IMGT |
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EMBL |
AF008202
AF008203
AL160006
BC112007
BC113428
CH471122
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GenPept |
AAD01417
AAD01418
AAI12008
AAI13429
CAI22714
EAW56430
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