Gene: Alx1

Basic information

Tag Content
Uniprot ID Q63087
Entrez ID 25401
Genbank protein ID AAA40877.1
Genbank nucleotide ID NM_012921.1; XM_006241293.2;
Ensembl protein ID ENSRNOP00000006007
Ensembl nucleotide ID ENSRNOG00000004390
Gene name ALX homeobox protein 1
Gene symbol Alx1
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:12929931). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures (By similarity). Early on in development, it plays a role in forebrain mesenchyme survival (By similarity). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (By similarity).
Sequence
MEFLSEKFAL KSPPSKNSDF YMGTGGALEH VMETLDNESF YGKATAGKCV QAFGPLPRAE 60
HHVRLDRTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDGCN NLRMSPVKGM PEKSELDELG 120
DKCDSNVSSS KKRRHRTTFT SLQLEELEKV FQKTHYPDVY VREQLALRTE LTEARVQVWF 180
QNRRAKWRKR ERYGQIQQAK SHFAATYDIS VLPRTDSYPQ IQNNLWAGNT SGGSVVTSCM 240
LPRDASSCMT PYSHSPRTDS SYTGFSNHQN QFGHVPLNNF FTDSLLTGTT NGHAFETKPE 300
FERRSSSIAV LRMKAKEHTA NISWAM 326

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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologALX1102168422A0A452G2P5Capra hircusPredictionMore>>
1:1 orthologALX18092Q15699Homo sapiensPredictionMore>>
1:1 orthologAlx1216285Q8C8B0CPOMus musculusPublicationMore>>
1:1 orthologALX1452109H2Q6K1Pan troglodytesPredictionMore>>
1:1 orthologALX1100525700A0A287AYX1Sus scrofaPredictionMore>>
1:1 orthologALX1100354176G1SWL0Oryctolagus cuniculusPredictionMore>>
1:1 orthologAlx125401Q63087Rattus norvegicusPredictionMore>>
1:1 orthologalx1565176Q1LVQ7Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005794 Golgi apparatus
GO:0016604 nuclear body
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0046982 protein heterodimerization activity
GO:0042803 protein homodimerization activity
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding
GO:0009952 anterior/posterior pattern specification
GO:0030326 embryonic limb morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0014031 mesenchymal cell development
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0045892 negative regulation of transcription, DNA-templated
GO:0001755 neural crest cell migration
GO:0001843 neural tube closure
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0045893 positive regulation of transcription, DNA-templated
GO:0060021 roof of mouth development
GO:0001501 skeletal system development

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0010 Activator
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR033209 ALX1
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR003654 OAR_dom

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2
PS50803 OAR

Pfam

Pfam ID Pfam Term
PF00046 Homeodomain
PF03826 OAR