P49639
SS
Gene name |
HOXA1 (HOX1F) |
Protein name |
Homeobox protein Hox-A1 |
Names |
Homeobox protein Hox-1F |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3198 |
EC number |
|
Protein Class |
|
Descriptions
lab is a member of the Homeotic complex (HOX) family of homeoproteins that are required for specifying cell fates and morphological differences along the anterior-posterior axes of most animals. The lab hexapeptide(also called YPWM motif or pentapeptide) inhibits lab function and activates inappropriate target genes in vivo by inhibiting DNA binding. LAB-EXD interactions functions to remove the inhibitory effect of the hexapeptide and to enhance DNA binding to relevant target sequences by cooperative interactions.
Autoinhibitory domains (AIDs)
Target domain |
227-291 (Homeodomain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P49639
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P49639-F1 | Predicted | AlphaFoldDB |
2 variants for P49639
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs10951154 VAR_010305 |
73 | H>R | No |
UniProt dbSNP |
|
|
VAR_030576 rs17500494 |
189 | E>A | No |
UniProt dbSNP |
2 associated diseases with P49639
[MIM: 601536]: Athabaskan brainstem dysgenesis syndrome (ABDS)
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. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601536]: Bosley-Salih-Alorainy syndrome (BSAS)
A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- 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. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P49639
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CRIB domain | 69 - 126 | IPR000095 |
| active_site | Serine/threonine-protein kinase, active site | 383 - 395 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 274 - 297 | IPR017441 |
| domain | p21 activated kinase binding domain | 68 - 113 | IPR033923 |
| domain | p21-activated kinase 3, catalytic domain | 248 - 544 | IPR035063 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| abducens nerve formation | The process that gives rise to the abducens nerve. This process pertains to the initial formation of a structure from unspecified parts. The motor function of the abducens nerve is to contract the lateral rectus which results in abduction of the eye. |
| anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
| artery development | The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. |
| artery morphogenesis | The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. |
| cochlea development | The progression of the cochlea over time from its formation to the mature structure. The cochlea is the snail-shaped portion of the inner ear that is responsible for the detection of sound. |
| cochlea morphogenesis | The process in which the cochlea is generated and organized. |
| cognition | The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. |
| embryonic neurocranium morphogenesis | The process in which the anatomical structures of the neurocranium are generated and organized during the embryonic phase. The neurocranium is the portion of the vertebrate skull surrounding the brain. |
| inner ear development | The process whose specific outcome is the progression of the inner ear over time, from its formation to the mature structure. |
| neuromuscular process | Any process pertaining to the functions of the nervous and muscular systems of an organism. |
| optokinetic behavior | The behavior of an organism pertaining to movement of the eyes and of objects in the visual field, as in nystagmus. |
| outer ear morphogenesis | The process in which the anatomical structures of the outer ear are generated and organized. The outer ear is the part of the ear external to the tympanum (eardrum). It consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of behavior | Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| semicircular canal formation | The developmental process pertaining to the initial formation of the semicircular canal from the otic vesicle. This process begins with the regionalization of the vesicle that specifies the area where the vesicles will form and continues through the process of fusion which forms the initial tubes. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P23459 | HOXD8 | Homeobox protein Hox-D8 | Gallus gallus (Chicken) | PR |
| A2T6Z0 | HOXB1 | Homeobox protein Hox-B1 | Pan troglodytes (Chimpanzee) | SS |
| P10105 | lab | Homeotic protein labial | Drosophila melanogaster (Fruit fly) | EV |
| P31268 | HOXA7 | Homeobox protein Hox-A7 | Homo sapiens (Human) | SS |
| P14653 | HOXB1 | Homeobox protein Hox-B1 | Homo sapiens (Human) | SS |
| P09022 | Hoxa1 | Homeobox protein Hox-A1 | Mus musculus (Mouse) | SS |
| O08656 | Hoxa1 | Homeobox protein Hox-A1 | Rattus norvegicus (Rat) | SS |
| A2D649 | HOXB1 | Homeobox protein Hox-B1 | Macaca mulatta (Rhesus macaque) | SS |
| P46603 | HAT9 | Homeobox-leucine zipper protein HAT9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q28IU6 | hoxd1 | Homeobox protein Hox-D1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| Q8JH55 | hoxb8b | Homeobox protein Hox-B8b | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| F1Q4R9 | meox1 | Homeobox protein MOX-1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDNARMNSFL | EYPILSSGDS | GTCSARAYPS | DHRITTFQSC | AVSANSCGGD | DRFLVGRGVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IGSPHHHHHH | HHHHPQPATY | QTSGNLGVSY | SHSSCGPSYG | SQNFSAPYSP | YALNQEADVS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GGYPQCAPAV | YSGNLSSPMV | QHHHHHQGYA | GGAVGSPQYI | HHSYGQEHQS | LALATYNNSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SPLHASHQEA | CRSPASETSS | PAQTFDWMKV | KRNPPKTGKV | GEYGYLGQPN | AVRTNFTTKQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LTELEKEFHF | NKYLTRARRV | EIAASLQLNE | TQVKIWFQNR | RMKQKKREKE | GLLPISPATP |
| 310 | 320 | 330 | |||
| PGNDEKAEES | SEKSSSSPCV | PSPGSSTSDT | LTTSH |