ALX1 (ALX homeobox 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8092
Gene name ALX homeobox 1
Gene symbol ALX1
Synonyms (NCBI Gene)
CART1FND3HEL23
Chromosome 12
Chromosome location 12q21.31
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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs587776684 G>A Pathogenic Splice donor variant
rs1593055101 G>C Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
120
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (120)
miRTarBase ID miRNA Experiments Reference
MIRT029276 hsa-miR-26b-5p Microarray 19088304
MIRT613331 hsa-miR-8485 HITS-CLIP 19536157
MIRT613331 hsa-miR-8485 HITS-CLIP 23824327
MIRT613331 hsa-miR-8485 HITS-CLIP 23824327
MIRT613331 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8756334
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 9753625
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601527 1494 ENSG00000180318
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15699
Protein name ALX homeobox protein 1 (Cartilage homeoprotein 1) (CART-1)
Protein function 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:8756334, PubMed:9753625). Most probably regulates the expression of g
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 133 → 189 Homeodomain Domain
PF03826 OAR 302 → 320 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: Cartilage and cervix tissue. {ECO:0000269|PubMed:8756334}.
Sequence 
MEFLSEKFALKSPPSKNSDFYMGAGGPLEHVMETLDNESFYSKASAGKCVQAFGPLPRAE
HHVRLERTSPCQDSSVNYGITKVEGQPLHTELNRAMDNCNSLRMSPVKGMQEKGELDELG
DKCDSNVSSSKKRRHRTTFTSLQLEELEKVFQKTHYPDVYVREQLALRTELTEARVQVWF
QNRRAKWRKRERYGQIQQAKSHFAATYDISVLPRTDSYPQIQNNLWAGNASGGSVVTSCM
LPRDTSSCMTPYSHSPRTDSSYTGFSNHQNQFSHVPLNNFFTDSLLTGATNGHAFETKPE
FERRSSSIAVLRMKAKEHTANISWAM
Sequence length 326
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Pathogenic; Likely pathogenic rs587776684, rs781138367, rs1593055101 RCV000008579
RCV003314275
RCV001027524
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALX1-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign rs145944049, rs115596276, rs115154507, rs141779263 RCV003927755
RCV003920126
RCV003904513
RCV003910581
Lung adenocarcinoma Uncertain significance rs1432369243 RCV003129711
Malignant tumor of esophagus Benign rs116409037 RCV005928699
Melanoma Benign rs116409037 RCV005928701
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 38548216
Anophthalmia plus syndrome Associate 20451171
Carcinogenesis Associate 26722397, 28069692
Carcinoma Non Small Cell Lung Associate 24081945, 33337349
Dystonic Disorders Associate 20451171
Frontonasal dysplasia Associate 20451171
Lung Neoplasms Associate 26722397
Melanoma Associate 26489459
Microphthalmos Associate 20451171
Neoplasm Metastasis Stimulate 26722397