ALX1 - ALX homeobox 1 Gene

Homo sapiens

Also known as FND3; CART1; HEL23

Gene ID: 8092 | Gene type: protein coding

About ALX1

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:85,280,220-85,301,784 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues, 50 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 1.7), ovary (RPKM 0.6) and 5 other tissues.

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]

ALX1 Products(1)

mRNA	Protein	Name
NM_006982.3	NP_008913.2	ALX homeobox protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9753625	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9753625	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	8756334	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9753625	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	23288509	GOA
involved in positive regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	23288509	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9753625	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	9753625	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALX1 Protein Structure

Homeobox

OAR

0
100
200
300
326 a.a.

Protein Preferred Names

Protein Names

ALX homeobox protein 1

CART-1

Related Diseases

Diseases

Alias

Frontonasal Dysplasia 3

FND3	Frontonasal Dysplasia - Severe Microphthalmia - Severe Facial Clefting Syndrome
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Alx1-Related Frontonasal Dysplasia
Frontonasal Dysplasia Type 3	Dysplasia, Frontonasal, Type 3

Frontonasal Dysplasia 1

Frontorhiny	Frontonasal Dysplasia
Fnd	Frontonasal Malformation
Fnm	Median Facial Cleft Syndrome
Midline Facial Cleft	FND1
Median Cleft Face Syndrome	Median Cleft Syndrome
Frontonasal Dysplasia Sequence	Median Facial Cleft
Tessier Number 0-14 And 30 Facial Cleft	Alx3-Related Frontonasal Dysplasia
Frontonasal Dysplasia Type 1	Isolated Median Cleft Face Syndrome
Doid:0081044	Doid:0081045
Dysplasia, Frontonasal, Type

Widow'S Peak

Widow'S Peak Syndrome

Widow'S Peak, Ptosis, And Skeletal Anomalies

Facial Cleft

Craniofacial Cleft

Craniofacial Clefts

Combined Oxidative Phosphorylation Deficiency 5

COXPD5	Hypotonia With Lactic Acidemia And Hyperammonemia
Combined Oxidative Phosphorylation Defect Type 5	Combined Oxidative Phosphorylation Deficiency, Type 5

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Spastic Paraplegia 76, Autosomal Recessive

SPG76	Autosomal Recessive Spastic Paraplegia Type 76
Hereditary Spastic Paraplegia 76	Autosomal Recessive Spastic Paraplegia 76
Paraplegia, Spastic, Autosomal Recessive, Type 76

Pentosuria

Xylitol Dehydrogenase Deficiency	L-Xylulosuria
L-Xylulose Reductase Deficiency	Essential Pentosuria
PNTSU	Essential Benign Pentosuria

Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia	CFNS
Cfnd	Craniofrontonasal Dysostosis
Craniofrontonasal Dystosis	Dysplasia, Craniofrontonasal

Parietal Foramina

Enlarged Parietal Foramina	Hereditary Cranium Bifidum
Symmetric Parietal Foramina	Catlin Marks
Foramina Parietalia Permagna	Caitlin Marks
Cranium Bifidum	Cranium Bifidum Occultum
Fenestrae Parietals Symmetricae	Fpp
Giant Parietal Foramina	Pfm
Fenestrae Parietales Symmetricae	Foramina, Parietal

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Orofacial Cleft

Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00636	ALX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALX1	RGD	RGD:2273
Mus musculus	ALX1	MGD	MGI:104621
Canis familiaris	ALX1	VGNC	VGNC:37820
Bos taurus	ALX1	VGNC	VGNC:25853
Felis catus	ALX1	VGNC	VGNC:83488

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