Gene: ALX1

Basic information

Tag Content
Uniprot ID Q15699; Q546C8; Q96FH4;
Entrez ID 8092
Genbank protein ID CAD90155.1; AAH10923.1; AAB08960.1;
Genbank nucleotide ID NM_006982.2
Ensembl protein ID ENSP00000315417
Ensembl nucleotide ID ENSG00000180318
Gene name ALX homeobox protein 1
Gene symbol ALX1
Organism Homo sapiens
NCBI taxa ID 9606
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:9753625, PubMed:8756334). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).
Sequence
MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV QAFGPLPRAE 60
HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN SLRMSPVKGM QEKGELDELG 120
DKCDSNVSSS KKRRHRTTFT SLQLEELEKV FQKTHYPDVY VREQLALRTE LTEARVQVWF 180
QNRRAKWRKR ERYGQIQQAK SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM 240
LPRDTSSCMT PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT 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.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIBA
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISM
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIDA
GO:0003700 DNA-binding transcription factor activityTAS
GO:0003714 transcription corepressor activityTAS
GO:0005515 protein bindingIPI
GO:0042803 protein homodimerization activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0001502 cartilage condensationTAS
GO:0001755 neural crest cell migrationIEA
GO:0001843 neural tube closureIEA
GO:0006366 transcription by RNA polymerase IITAS
GO:0007275 multicellular organism developmentTAS
GO:0009952 anterior/posterior pattern specificationIEA
GO:0010718 positive regulation of epithelial to mesenchymal transitionIMP
GO:0030326 embryonic limb morphogenesisIEA
GO:0045892 negative regulation of transcription, DNA-templatedIBA
GO:0045893 positive regulation of transcription, DNA-templatedIMP
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0048704 embryonic skeletal system morphogenesisIBA
GO:0060021 roof of mouth developmentIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000790 nuclear chromatinISA
GO:0005634 nucleusIBA
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmIDA
GO:0005667 transcription factor complexIEA
GO:0005794 Golgi apparatusIDA
GO:0016604 nuclear bodyIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0010 Activator
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

Protein-protein interaction

Protein-miRNA interaction