Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8092
Gene name Gene Name - the full gene name approved by the HGNC.	ALX homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALX1
Synonyms (NCBI Gene) Gene synonyms aliases	CART1, FND3, HEL23
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT669536	hsa-miR-7854-3p	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT530201	hsa-miR-4635	PAR-CLIP	20371350
MIRT530199	hsa-miR-197-3p	PAR-CLIP	20371350
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	20371350
MIRT530197	hsa-miR-127-5p	PAR-CLIP	20371350
MIRT530196	hsa-miR-455-3p	PAR-CLIP	20371350
MIRT530195	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT530203	hsa-miR-4421	PAR-CLIP	22012620
MIRT530202	hsa-miR-5699-3p	PAR-CLIP	22012620
MIRT530201	hsa-miR-4635	PAR-CLIP	22012620
MIRT530200	hsa-miR-431-5p	PAR-CLIP	22012620
MIRT530199	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	22012620
MIRT530197	hsa-miR-127-5p	PAR-CLIP	22012620
MIRT530196	hsa-miR-455-3p	PAR-CLIP	22012620
MIRT530195	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT450074	hsa-miR-3662	PAR-CLIP	22100165
MIRT450073	hsa-miR-1252-3p	PAR-CLIP	22100165
MIRT450072	hsa-miR-3975	PAR-CLIP	22100165
MIRT450071	hsa-miR-2467-5p	PAR-CLIP	22100165
MIRT450070	hsa-miR-485-5p	PAR-CLIP	22100165
MIRT450068	hsa-miR-6884-5p	PAR-CLIP	22100165
MIRT450069	hsa-miR-3188	PAR-CLIP	22100165
MIRT530197	hsa-miR-127-5p	PAR-CLIP	27292025
MIRT530197	hsa-miR-127-5p	PAR-CLIP	27292025
MIRT530197	hsa-miR-127-5p	PAR-CLIP	27292025
MIRT530197	hsa-miR-127-5p	PAR-CLIP	27292025
MIRT530199	hsa-miR-197-3p	PAR-CLIP	27292025
MIRT530199	hsa-miR-197-3p	PAR-CLIP	27292025
MIRT530199	hsa-miR-197-3p	PAR-CLIP	27292025
MIRT530199	hsa-miR-197-3p	PAR-CLIP	27292025
MIRT530196	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT530196	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT530196	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT530201	hsa-miR-4635	PAR-CLIP	27292025
MIRT530201	hsa-miR-4635	PAR-CLIP	27292025
MIRT530201	hsa-miR-4635	PAR-CLIP	27292025
MIRT530201	hsa-miR-4635	PAR-CLIP	27292025
MIRT530195	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT530195	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT530195	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	27292025
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	27292025
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	27292025
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	27292025
MIRT613331	hsa-miR-8485	HITS-CLIP	27418678
MIRT736558	hsa-miR-192-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34104082
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
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT669536	hsa-miR-7854-3p	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT613331	hsa-miR-8485	HITS-CLIP	23824327
MIRT530201	hsa-miR-4635	PAR-CLIP	20371350
MIRT530199	hsa-miR-197-3p	PAR-CLIP	20371350
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	20371350
MIRT530197	hsa-miR-127-5p	PAR-CLIP	20371350
MIRT530196	hsa-miR-455-3p	PAR-CLIP	20371350
MIRT530195	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT530203	hsa-miR-4421	PAR-CLIP	22012620
MIRT530202	hsa-miR-5699-3p	PAR-CLIP	22012620
MIRT530201	hsa-miR-4635	PAR-CLIP	22012620
MIRT530200	hsa-miR-431-5p	PAR-CLIP	22012620
MIRT530199	hsa-miR-197-3p	PAR-CLIP	22012620
MIRT530198	hsa-miR-7843-3p	PAR-CLIP	22012620
MIRT530197	hsa-miR-127-5p	PAR-CLIP	22012620
MIRT530196	hsa-miR-455-3p	PAR-CLIP	22012620
MIRT530195	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT450074	hsa-miR-3662	PAR-CLIP	22100165
MIRT450073	hsa-miR-1252-3p	PAR-CLIP	22100165
MIRT450072	hsa-miR-3975	PAR-CLIP	22100165
MIRT450071	hsa-miR-2467-5p	PAR-CLIP	22100165
MIRT450070	hsa-miR-485-5p	PAR-CLIP	22100165
MIRT450068	hsa-miR-6884-5p	PAR-CLIP	22100165
MIRT450069	hsa-miR-3188	PAR-CLIP	22100165
MIRT779408	hsa-miR-1278	CLIP-seq
MIRT779409	hsa-miR-4729	CLIP-seq
MIRT2473473	hsa-miR-4752	CLIP-seq

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	9753625
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	TAS	8756334
GO:0001843	Process	Neural tube closure	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9753625, 23288509
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	23288509
GO:0014031	Process	Mesenchymal cell development	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9753625
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	23288509
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9753625
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048666	Process	Neuron development	IBA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IBA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048864	Process	Stem cell development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
601527	1494	ENSG00000180318

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome	Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	rs587776684, rs1593055101	N/A

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Neoplasms	Associate	27028854, 28069692, 38548216
Precancerous Conditions	Associate	28069692
Prodromal Symptoms	Associate	24081945

ALX1 (ALX homeobox 1)