InnateDB Protein
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IDBP-10286.6
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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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HOXA1
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Protein Name
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homeobox A1
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Synonyms
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BSAS; HOX1; HOX1F;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000343246
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InnateDB Gene
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IDBG-10280 (HOXA1)
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Protein Structure
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Function |
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.
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Subcellular Localization |
Nucleus.
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Disease Associations |
Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. {ECO:0000269PubMed:16155570}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. 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 93 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
93
[view]
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Protein-Protein |
86
[view]
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Protein-DNA |
7
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
4 [view]
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Molecular Function |
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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
IPR020479
Homeodomain, metazoa
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PFAM |
PF00046
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PRINTS |
PR00024
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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 |
P49639
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PhosphoSite |
PhosphoSite-P49639
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
3198
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UniGene |
Hs.613693
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RefSeq |
NP_005513
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HUGO |
HGNC:5099
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OMIM |
142955
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CCDS |
CCDS5401
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HPRD |
00843
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IMGT |
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EMBL |
AC004079
AK313514
BC032547
CH236948
CH471073
S79869
S79871
S79910
U10421
U37431
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GenPept |
AAA86954
AAB35423
AAB35424
AAB35425
AAC50248
AAC50249
AAC50250
AAH32547
AAS00374
BAG36294
EAL24228
EAW93861
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