Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ALX1 Gene

Aliases for ALX1 Gene

  • ALX Homeobox 1 2 3 5
  • Cartilage Paired-Class Homeoprotein 1 2 3
  • CART-1 3 4
  • CART1 3 4
  • Epididymis Luminal Protein 23 3
  • Cartilage Homeoprotein 1 4
  • ALX Homeobox Protein 1 3
  • HEL23 3
  • FND3 3

External Ids for ALX1 Gene

Previous HGNC Symbols for ALX1 Gene

  • CART1

Previous GeneCards Identifiers for ALX1 Gene

  • GC12P084198
  • GC12P085674
  • GC12P082731

Summaries for ALX1 Gene

Entrez Gene Summary for ALX1 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 defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]

GeneCards Summary for ALX1 Gene

ALX1 (ALX Homeobox 1) is a Protein Coding gene. Diseases associated with ALX1 include Frontonasal Dysplasia 3 and Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is ALX4.

UniProtKB/Swiss-Prot for ALX1 Gene

  • 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:9753625, PubMed:8756334). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).

Gene Wiki entry for ALX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALX1 Gene

Genomics for ALX1 Gene

Regulatory Elements for ALX1 Gene

Enhancers for ALX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G085279 1.3 FANTOM5 ENCODE 2.2 +0.6 630 2.2 PKNOX1 ARNT SIN3A FEZF1 ZNF2 GLIS2 KLF7 ZNF263 SP3 CBX8 LOC105369876 ALX1 GC12P085312
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALX1 on UCSC Golden Path with GeneCards custom track

Promoters for ALX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054781 305 601 TBP ARNT KLF17 SIN3A FEZF1 RAD21 ZEB1 GLIS2 ZSCAN5C ZNF263
ENSR00000269384 1005 401 TBP PKNOX1 ZSCAN4 KLF17 SIN3A ZNF2 RAD21 ZEB1 GLIS2 ZNF366

Genomic Location for ALX1 Gene

Chromosome:
12
Start:
85,279,795 bp from pter
End:
85,301,784 bp from pter
Size:
21,990 bases
Orientation:
Plus strand

Genomic View for ALX1 Gene

Genes around ALX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALX1 Gene

Proteins for ALX1 Gene

  • Protein details for ALX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15699-ALX1_HUMAN
    Recommended name:
    ALX homeobox protein 1
    Protein Accession:
    Q15699
    Secondary Accessions:
    • Q546C8
    • Q96FH4

    Protein attributes for ALX1 Gene

    Size:
    326 amino acids
    Molecular mass:
    36961 Da
    Quaternary structure:
    • Binds DNA as a homodimer; required for transcriptional activation (PubMed:9753625). Interacts (via homeobox domain) with EP300; acetylates ALX1 and stimulates its transcriptional activity.

neXtProt entry for ALX1 Gene

Post-translational modifications for ALX1 Gene

  • Acetylated at Lys-131 by EP300; increases interaction with EP300 and stimulates ALX1 transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALX1 Gene

Domains & Families for ALX1 Gene

Gene Families for ALX1 Gene

Suggested Antigen Peptide Sequences for ALX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15699

UniProtKB/Swiss-Prot:

ALX1_HUMAN :
  • The OAR motif may negatively regulate DNA-binding and therefore transcriptional activity. It is found in the C-terminal transactivation domain that stimulates transcription.
  • Belongs to the paired homeobox family.
Domain:
  • The OAR motif may negatively regulate DNA-binding and therefore transcriptional activity. It is found in the C-terminal transactivation domain that stimulates transcription.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with ALX1: view

Function for ALX1 Gene

Molecular function for ALX1 Gene

UniProtKB/Swiss-Prot 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:9753625, PubMed:8756334). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).

Gene Ontology (GO) - Molecular Function for ALX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 9753625
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 9753625
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 8756334
GO:0003714 transcription corepressor activity TAS 8756334
genes like me logo Genes that share ontologies with ALX1: view
genes like me logo Genes that share phenotypes with ALX1: view

Human Phenotype Ontology for ALX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALX1 Gene

MGI Knock Outs for ALX1:

Animal Model Products

CRISPR Products

Transcription Factor Targets for ALX1 Gene

Selected GeneGlobe predicted Target genes for ALX1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for ALX1 Gene

Localization for ALX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALX1 gene
Compartment Confidence
nucleus 5
golgi apparatus 5

Gene Ontology (GO) - Cellular Components for ALX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9753625
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005794 Golgi apparatus IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with ALX1: view

Pathways & Interactions for ALX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 8756334
GO:0001502 cartilage condensation TAS 8756334
GO:0001755 neural crest cell migration IEA --
GO:0001843 neural tube closure IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ALX1: view

No data available for Pathways by source and SIGNOR curated interactions for ALX1 Gene

Transcripts for ALX1 Gene

mRNA/cDNA for ALX1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALX1 Gene

ALX homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALX1 Gene

No ASD Table

Relevant External Links for ALX1 Gene

GeneLoc Exon Structure for
ALX1
ECgene alternative splicing isoforms for
ALX1

Expression for ALX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALX1 Gene

mRNA differential expression in normal tissues according to GTEx for ALX1 Gene

This gene is overexpressed in Kidney - Cortex (x15.4), Fallopian Tube (x8.1), and Minor Salivary Gland (x5.4).

Protein differential expression in normal tissues from HIPED for ALX1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALX1 Gene



Protein tissue co-expression partners for ALX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALX1 Gene:

ALX1

SOURCE GeneReport for Unigene cluster for ALX1 Gene:

Hs.41683

mRNA Expression by UniProt/SwissProt for ALX1 Gene:

Q15699-ALX1_HUMAN
Tissue specificity: Cartilage and cervix tissue.

Evidence on tissue expression from TISSUES for ALX1 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • nose
  • outer ear
  • skull
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with ALX1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ALX1 Gene

Orthologs for ALX1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALX1 34 35
  • 99.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALX1 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALX1 34 35
  • 94.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ALX1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALX1 34 35
  • 92.99 (n)
mouse
(Mus musculus)
Mammalia Alx1 34 16 35
  • 90.8 (n)
rat
(Rattus norvegicus)
Mammalia Alx1 34
  • 90.7 (n)
chicken
(Gallus gallus)
Aves ALX1 34 35
  • 84.76 (n)
lizard
(Anolis carolinensis)
Reptilia ALX1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alx1 34
  • 75.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia cart1-A 34
zebrafish
(Danio rerio)
Actinopterygii alx1 34 35
  • 69.01 (n)
Species where no ortholog for ALX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALX1 Gene

ENSEMBL:
Gene Tree for ALX1 (if available)
TreeFam:
Gene Tree for ALX1 (if available)

Paralogs for ALX1 Gene

Paralogs for ALX1 Gene

(4) SIMAP similar genes for ALX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ALX1: view

Variants for ALX1 Gene

Sequence variations from dbSNP and Humsavar for ALX1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs587776684 Pathogenic 85,283,877(+) TCCAG(A/G)TAGGA splice-donor-variant
rs115596276 Likely benign 85,280,452(+) CGTGC(G/T)CTTGG upstream-variant-2KB, reference, missense
rs145944049 Uncertain significance 85,280,451(+) ACGTG(C/T)GCTTG upstream-variant-2KB, reference, missense
rs1000060900 -- 85,278,580(+) TGCAC(A/C)GCCCT upstream-variant-2KB
rs1000312242 -- 85,278,401(+) TGAGC(G/T)CTGCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ALX1 Gene

Variant ID Type Subtype PubMed ID
dgv1537n100 CNV loss 25217958
esv2761757 CNV gain 21179565
esv3400881 CNV insertion 20981092
esv3892240 CNV gain 25118596
nsv1040452 CNV gain 25217958
nsv559662 CNV loss 21841781

Variation tolerance for ALX1 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALX1 Gene

Human Gene Mutation Database (HGMD)
ALX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALX1 Gene

Disorders for ALX1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ALX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
frontonasal dysplasia 3
  • fnd3
frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
  • frontonasal dysplasia 3
craniofrontonasal dysplasia
  • craniofrontonasal syndrome
parietal foramina 1
  • parietal foramina
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards
Search ALX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALX1_HUMAN
  • Frontonasal dysplasia 3 (FND3) [MIM:613456]: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widows peak frontal hairline. {ECO:0000269 PubMed:20451171}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALX1

Genetic Association Database (GAD)
ALX1
Human Genome Epidemiology (HuGE) Navigator
ALX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALX1
genes like me logo Genes that share disorders with ALX1: view

No data available for Genatlas for ALX1 Gene

Publications for ALX1 Gene

  1. Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA. (PMID: 8756334) Gordon D.F. … Gutierrez-Hartmann A. (DNA Cell Biol. 1996) 2 3 4 22 64
  2. ALX1 induces snail expression to promote epithelial-to-mesenchymal transition and invasion of ovarian cancer cells. (PMID: 23288509) Yuan H. … Senga T. (Cancer Res. 2013) 3 4 64
  3. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. (PMID: 20451171) Uz E. … Akarsu N.A. (Am. J. Hum. Genet. 2010) 3 4 64
  4. Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study. (PMID: 20932315) Lu W. … Zhu H. (BMC Med. Genet. 2010) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ALX1 Gene

Sources for ALX1 Gene

Content
Loading form....