Homo sapiens Gene: ALX1
Summary
InnateDB Gene IDBG-49987.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALX1
Gene Name ALX homeobox 1
Synonyms CART1; FND3; HEL23
Species Homo sapiens
Ensembl Gene ENSG00000180318
Encoded Proteins
ALX homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:85280107-85301784
Strand Forward strand
Band q21.31
Transcripts
ENST00000316824 ENSP00000315417
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001502 cartilage condensation
GO:0001843 neural tube closure
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organismal development
GO:0007420 brain development
GO:0009952 anterior/posterior pattern specification
GO:0014031 mesenchymal cell development
GO:0030326 embryonic limb morphogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048704 embryonic skeletal system morphogenesis
GO:0060021 palate development
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt Q15699
TrEMBL V9HWA7
UniProt Splice Variant
Entrez Gene 8092
UniGene Hs.41683
RefSeq NM_006982 XM_005269165
HUGO HGNC:1494
OMIM 601527
CCDS CCDS9028
HPRD
IMGT
EMBL AJ558236 AJ558237 BC010923 CH471054 EU794597 U31986
GenPept AAB08960 AAH10923 ACJ13651 CAD90155 EAW97398
RNA Seq Atlas 8092