ALX1 - ALX homeobox 1 Gene

Also Known as FND3; CART1; HEL23

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8092

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 Verweise 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 Verweise 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 Verweise 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

Homeobox: Homeobox domain (133 - 189)

OAR

OAR: OAR domain (302 - 321)

  • 0
  • 100
  • 200
  • 300
  • 326 a.a.
Protein Preferred Names Protein Names

ALX homeobox protein 1

  • CART-1

ALX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
ALX1 Q15699 PACRGL Homo sapiens Q8N7B6-2
Validated Y2H
32296183
Intra
ALX1 Q15699 RBM45 Homo sapiens Q8IUH3-3
Validated Y2H
32296183
Intra
ALX1 Q15699 KRTAP4-4 Homo sapiens Q9BYR3
Validated Y2H
32296183
Intra
ALX1 Q15699 ZNF300 Homo sapiens Q96RE9-3
Validated Y2H
32296183
Intra
ALX1 Q15699 UROC1 Homo sapiens Q96N76
Validated Y2H
32296183
Intra
ALX1 Q15699 OR52L1 Homo sapiens Q8NGH7
Validated Y2H
32296183
Intra
ALX1 Q15699 KAT5 Homo sapiens Q92993
Validated Y2H
32296183
Intra
ALX1 Q15699 IPO13 Homo sapiens O94829
Pull Down
16189514
Intra
ALX1 Q15699 IPO13 Homo sapiens O94829
Y2H Pooling
16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS00636 ALX1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others ALX1 NCBI