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HOXA1
Sequence-specific transcription factor. Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior. Also 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. Activates transcription in the presence of PBX1A and PKNOX1. Belongs to the Antp homeobox family. Labial subfamily. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: DNA-binding; Oncoprotein; Transcription factor |
| Chromosomal Location of human Ortholog: 7p15.2 |
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Cellular Component:
chromatin; nucleus
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Molecular Function:
DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific; identical protein binding; protein binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific DNA binding; sequence-specific double-stranded DNA binding
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Biological Process:
abducens nerve formation; anatomical structure morphogenesis; artery development; artery morphogenesis; cochlea development; cochlea morphogenesis; cognition; embryonic neurocranium morphogenesis; inner ear development; neuromuscular process; optokinetic behavior; outer ear morphogenesis; positive regulation of transcription by RNA polymerase II; regulation of behavior; regulation of transcription by RNA polymerase II; semicircular canal formation; sensory perception of sound
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Disease: Athabaskan Brainstem Dysgenesis Syndrome
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Reference #:
P49639
(UniProtKB)
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Alt. Names/Synonyms: BSAS; homeo box A1; homeobox 1F; homeobox A1; Homeobox protein Hox-1F; Homeobox protein Hox-A1; Hox 1.6-like protein; HOX A1 homeodomain protein; HOX1; HOX1F; HOXA1; HXA1; lab-like protein; MGC45232
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Gene Symbols: HOXA1
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Molecular weight:
36,641 Da
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Basal Isoelectric point:
8.13
Predict pI for various phosphorylation states
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