Tag | Content |
---|---|
Uniprot ID | P09022; P15463; |
Entrez ID | |
Genbank protein ID | AAA37839.1; CAA29426.1; AAA37559.1; AAA37558.1; CAA29427.1; |
Genbank nucleotide ID | |
Ensembl protein ID | |
Ensembl nucleotide ID | |
Gene name | Homeobox protein Hox-A1 |
Gene symbol | Hoxa1 |
Organism | Mus musculus |
NCBI taxa ID | 10090 |
Cleft type | CPO |
Developmental stage | |
Data sources | Manually collected |
Reference | 10529419; 7903601; |
Functional description | Sequence-specific transcription factor (PubMed:29465778). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (By similarity). 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 (By similarity). Activates transcription in the presence of PBX1A and PKNOX1 (PubMed:29465778). |
Sequence | MNSFLEYPIL GSGDSGTCSA RAYPSDHGIT TFQSCAVSAN SCGGDDRFLV GRGVQISSPH 60 HHHHHHHHHH PQTATYQTSG NLGISYSHSS CGPSYGAQNF SAPYGPYGLN QEADVSGGYP 120 PCAPAVYSGN LSTPMVQHHH HHQGYAGGTV GSPQYIHHSY GQEQQTLALA TYNNSLSPLH 180 ASHQEACRSP ASETSSPAQT FDWMKVKRNP PKTGKVGEYG YVGQPNAVRT NFTTKQLTEL 240 EKEFHFNKYL TRARRVEIAA SLQLNETQVK IWFQNRRMKQ KKREKEGLLP ISPATPPGSD 300 EKTEESSEKS SPSPSAPSPA SSTSDTLTTS H 331 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
GO ID | GO Term | Evidence |
---|---|---|
GO:0005515 | protein binding | IPI |
GO:0042802 | identical protein binding | ISO |
GO:0043565 | sequence-specific DNA binding | ISO |
GO ID | GO Term | Evidence |
---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IDA |
GO:0007399 | nervous system development | IMP |
GO:0007605 | sensory perception of sound | ISO |
GO:0007634 | optokinetic behavior | ISO |
GO:0008045 | motor neuron axon guidance | IGI |
GO:0009653 | anatomical structure morphogenesis | ISO |
GO:0009653 | anatomical structure morphogenesis | IGI |
GO:0009952 | anterior/posterior pattern specification | IGI |
GO:0009952 | anterior/posterior pattern specification | IMP |
GO:0021569 | rhombomere 3 development | IGI |
GO:0021569 | rhombomere 3 development | IMP |
GO:0021570 | rhombomere 4 development | IGI |
GO:0021570 | rhombomere 4 development | IMP |
GO:0021571 | rhombomere 5 development | IGI |
GO:0021571 | rhombomere 5 development | IMP |
GO:0021599 | abducens nerve formation | ISO |
GO:0021612 | facial nerve structural organization | IGI |
GO:0021754 | facial nucleus development | IMP |
GO:0021953 | central nervous system neuron differentiation | IMP |
GO:0030902 | hindbrain development | IMP |
GO:0042472 | inner ear morphogenesis | IMP |
GO:0042473 | outer ear morphogenesis | ISO |
GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
GO:0048646 | anatomical structure formation involved in morphogenesis | IGI |
GO:0048702 | embryonic neurocranium morphogenesis | ISO |
GO:0048839 | inner ear development | ISO |
GO:0048844 | artery morphogenesis | ISO |
GO:0050795 | regulation of behavior | ISO |
GO:0050890 | cognition | ISO |
GO:0050905 | neuromuscular process | ISO |
GO:0060840 | artery development | ISO |
GO:0060876 | semicircular canal formation | ISO |
GO:0071300 | cellular response to retinoic acid | IDA |
GO:0071361 | cellular response to ethanol | IEP |
GO:0090102 | cochlea development | ISO |
GO:0090103 | cochlea morphogenesis | ISO |
GO ID | GO Term | Evidence |
---|---|---|
GO:0005654 | nucleoplasm | TAS |
Reactome ID | Reactome Term | Evidence |
---|
Pfam ID | Pfam Term |
---|---|
PF00046 | Homeodomain |