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
  • CART1 3 4 6
  • Cartilage Paired-Class Homeoprotein 1 2 3
  • CART-1 3 4
  • FND3 3 6
  • Epididymis Luminal Protein 23 3
  • Cartilage Homeoprotein 1 4
  • ALX Homeobox Protein 1 3
  • HEL23 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 sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is PHOX2B.

UniProtKB/Swiss-Prot for ALX1 Gene

  • Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development.

Gene Wiki entry for ALX1 Gene

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

Genomics for ALX1 Gene

Regulatory Elements for ALX1 Gene

Genomic Location for ALX1 Gene

Start:
85,279,930 bp from pter
End:
85,301,784 bp from pter
Size:
21,855 bases
Orientation:
Plus strand

Genomic View for ALX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Interacts (via homeobox domain) with EP300.

neXtProt entry for ALX1 Gene

Proteomics data for ALX1 Gene at MOPED

Post-translational modifications for ALX1 Gene

  • Acetylated at Lys-131 by EP300, leading to increased interaction with EP300 and enhances transcriptional activation 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 for ALX1 Gene

Gene Families for ALX1 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains 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 :
  • Q15699
Domain:
  • Contains 1 homeobox DNA-binding domain.
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: Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development.

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 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 9753625
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity 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

Animal Models for ALX1 Gene

MGI Knock Outs for ALX1:

miRNA for ALX1 Gene

miRTarBase miRNAs that target ALX1

Transcription Factor Targeting 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
Jensen Localization Image for ALX1 Gene COMPARTMENTS Subcellular localization image for ALX1 gene
Compartment Confidence
nucleus 5
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ALX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 23288509
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with ALX1: view

Pathways for ALX1 Gene

SuperPathways 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:0001843 neural tube closure IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 8756334
GO:0007275 multicellular organismal development TAS 8756334
genes like me logo Genes that share ontologies with ALX1: view

No data available for Pathways by source for ALX1 Gene

Transcripts for ALX1 Gene

mRNA/cDNA for ALX1 Gene

(2) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(4) REFSEQ mRNAs :
(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 for ALX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Kidney - Cortex (15.4), Fallopian Tube (8.1), and Minor Salivary Gland (5.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALX1 Gene

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

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 35
  • 99.9 (n)
  • 100 (a)
ALX1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALX1 35
  • 94.68 (n)
  • 98.47 (a)
ALX1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALX1 35
  • 92.99 (n)
  • 98.02 (a)
ALX1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alx1 35
  • 90.8 (n)
  • 97.24 (a)
Alx1 16
Alx1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALX1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALX1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alx1 35
  • 90.7 (n)
  • 96.01 (a)
chicken
(Gallus gallus)
Aves ALX1 35
  • 84.76 (n)
  • 93.56 (a)
ALX1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALX1 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cart1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia alx1 35
  • 75.66 (n)
  • 82.82 (a)
zebrafish
(Danio rerio)
Actinopterygii alx1 35
  • 69.01 (n)
  • 74.44 (a)
alx1 36
  • 72 (a)
OneToOne
Species with no ortholog for ALX1:
  • 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

Selected 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 MAF
rs1011728 -- 85,301,835(+) ATCTC(A/T)TGTAA downstream-variant-500B
rs1512732 -- 85,295,173(+) TCTCA(A/G)TGTGT intron-variant
rs1512733 -- 85,300,783(+) AAAGA(A/C)AAAAA intron-variant
rs4076027 -- 85,278,029(-) CGGGC(C/T)CCCGG upstream-variant-2KB
rs6539889 -- 85,288,880(+) GTGTC(A/G)GGAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv899388 CNV Loss 21882294
nsv899392 CNV Loss 21882294
dgv1472n71 CNV Loss 21882294
esv271489 CNV Insertion 20981092

Relevant External Links for ALX1 Gene

HapMap Linkage Disequilibrium report
ALX1
Human Gene Mutation Database (HGMD)
ALX1

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

Disorders for ALX1 Gene

(1) OMIM Diseases for ALX1 Gene (601527)

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

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 23
  2. Presence of a new conserved domain in CART1, a novel member of the tumor necrosis factor receptor-associated protein family, which is expressed in breast carcinoma. (PMID: 7592751) Regnier C.H. … Rio M.-C. (J. Biol. Chem. 1995) 2 3
  3. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. (PMID: 8673125) Zhao Q. … de Crombrugghe B. (Nat. Genet. 1996) 3 23
  4. 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
  5. 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 48

Products for ALX1 Gene

Sources for ALX1 Gene

Back to Top

Content