Details for: ALX1

Gene ID: 8092

Symbol: ALX1

Ensembl ID: ENSG00000180318

Description: ALX homeobox 1

Associated with

  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Embryonic skeletal system morphogenesis
    (GO:0048704)
  • Golgi apparatus
    (GO:0005794)
  • Negative regulation of dna-templated transcription
    (GO:0045892)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nuclear body
    (GO:0016604)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of epithelial to mesenchymal transition
    (GO:0010718)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.7674
    Cell Significance Index: 28.0400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.9440
    Cell Significance Index: 30.2400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7597
    Cell Significance Index: 34.4400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2758
    Cell Significance Index: 44.8500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2254
    Cell Significance Index: 13.5300
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.2036
    Cell Significance Index: 2.2800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1957
    Cell Significance Index: 4.2400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1493
    Cell Significance Index: 3.1800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1243
    Cell Significance Index: 1.7800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1170
    Cell Significance Index: 2.4500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1068
    Cell Significance Index: 2.6700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0927
    Cell Significance Index: 9.1700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0472
    Cell Significance Index: 5.1400
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.0412
    Cell Significance Index: 0.4300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.0304
    Cell Significance Index: 0.5200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0293
    Cell Significance Index: 3.7500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0268
    Cell Significance Index: 19.8500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0151
    Cell Significance Index: 2.8800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0069
    Cell Significance Index: 0.3500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0042
    Cell Significance Index: 0.0600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0034
    Cell Significance Index: 0.0400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0003
    Cell Significance Index: -0.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0006
    Cell Significance Index: -0.3600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0014
    Cell Significance Index: -2.7100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0016
    Cell Significance Index: -0.0700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0039
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0059
    Cell Significance Index: -1.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0063
    Cell Significance Index: -3.9700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0074
    Cell Significance Index: -0.5200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0076
    Cell Significance Index: -4.1600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0100
    Cell Significance Index: -4.5300
  • Cell Name: pulmonary alveolar type 1 cell (CL0002062)
    Fold Change: -0.0128
    Cell Significance Index: -0.1400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0149
    Cell Significance Index: -3.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0152
    Cell Significance Index: -4.3600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0167
    Cell Significance Index: -0.4800
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0194
    Cell Significance Index: -0.2500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0209
    Cell Significance Index: -4.2000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0244
    Cell Significance Index: -4.8400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0256
    Cell Significance Index: -0.5000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0261
    Cell Significance Index: -3.8000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0279
    Cell Significance Index: -1.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0318
    Cell Significance Index: -3.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0346
    Cell Significance Index: -3.5300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0358
    Cell Significance Index: -4.9200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0370
    Cell Significance Index: -0.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0380
    Cell Significance Index: -4.4300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0400
    Cell Significance Index: -0.8300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0431
    Cell Significance Index: -4.4900
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0456
    Cell Significance Index: -0.9100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0465
    Cell Significance Index: -0.7000
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0529
    Cell Significance Index: -0.5100
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0559
    Cell Significance Index: -0.7600
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.0587
    Cell Significance Index: -0.5500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0735
    Cell Significance Index: -4.9400
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.0784
    Cell Significance Index: -0.9100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0801
    Cell Significance Index: -1.9400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0875
    Cell Significance Index: -4.9100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0886
    Cell Significance Index: -4.6000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0887
    Cell Significance Index: -5.4500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0911
    Cell Significance Index: -4.2800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0920
    Cell Significance Index: -1.0000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0941
    Cell Significance Index: -3.2700
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: -0.0955
    Cell Significance Index: -1.0200
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.0966
    Cell Significance Index: -1.0600
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0967
    Cell Significance Index: -1.0400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1097
    Cell Significance Index: -1.7600
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1128
    Cell Significance Index: -0.9800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1132
    Cell Significance Index: -3.9700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1160
    Cell Significance Index: -5.1300
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1192
    Cell Significance Index: -2.3300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1244
    Cell Significance Index: -2.6600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1246
    Cell Significance Index: -3.6700
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.1246
    Cell Significance Index: -1.4100
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.1257
    Cell Significance Index: -0.7700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1283
    Cell Significance Index: -3.2700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1313
    Cell Significance Index: -1.4900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1342
    Cell Significance Index: -5.0800
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.1346
    Cell Significance Index: -0.7900
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.1389
    Cell Significance Index: -1.7100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1396
    Cell Significance Index: -4.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1429
    Cell Significance Index: -4.5500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1457
    Cell Significance Index: -5.3500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1466
    Cell Significance Index: -0.9900
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1475
    Cell Significance Index: -2.0400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1502
    Cell Significance Index: -4.0100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1512
    Cell Significance Index: -4.0500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1552
    Cell Significance Index: -4.4500
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.1578
    Cell Significance Index: -1.5100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1633
    Cell Significance Index: -4.3000
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.1644
    Cell Significance Index: -2.0800
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.1654
    Cell Significance Index: -1.6000
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.1669
    Cell Significance Index: -1.9200
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1700
    Cell Significance Index: -1.6700
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.1701
    Cell Significance Index: -2.0100
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: -0.1724
    Cell Significance Index: -1.7500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1750
    Cell Significance Index: -4.3700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1758
    Cell Significance Index: -4.7100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1763
    Cell Significance Index: -5.0300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1784
    Cell Significance Index: -2.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1822
    Cell Significance Index: -3.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ALX1 is a member of the ALX family of homeobox genes, which play essential roles in embryonic development and tissue homeostasis. The protein encoded by ALX1 is a transcription factor that binds to specific DNA sequences, regulating the expression of target genes involved in cell growth, differentiation, and survival. ALX1 is highly expressed in various cell types, including immune cells, epithelial cells, and fibroblasts, suggesting its broad functional scope. **Pathways and Functions:** ALX1 is involved in several key pathways, including: 1. **Transcriptional regulation:** ALX1 acts as a transcriptional activator, regulating the expression of genes involved in cell growth, differentiation, and survival. It binds to specific DNA sequences, recruiting co-activators and modifying chromatin structure to facilitate transcriptional activation. 2. **Cellular morphogenesis:** ALX1 is involved in the regulation of cellular morphology, particularly in the development and maintenance of epithelial tissues. It influences the expression of genes involved in cell adhesion, migration, and invasion. 3. **Immune regulation:** ALX1 plays a role in the regulation of immune cell development and function, including the differentiation of microglial cells, conventional dendritic cells, and plasma cells. It also influences the expression of genes involved in immune responses, such as cytokine production and antigen presentation. **Clinical Significance:** ALX1 dysregulation has been implicated in various human diseases, including: 1. **Neurological disorders:** ALX1 mutations have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 2. **Cancer:** ALX1 is overexpressed in several types of cancer, including breast, lung, and colon cancer, suggesting its potential as a therapeutic target. 3. **Immunological disorders:** ALX1 dysregulation has been linked to autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis, highlighting its role in immune system regulation. In conclusion, ALX1 is a multifunctional transcription factor that plays critical roles in immune regulation, cellular morphogenesis, and transcriptional control. Its dysregulation has been implicated in various human diseases, making it an attractive target for therapeutic intervention. **Recommendations:** 1. Further investigation is needed to elucidate the molecular mechanisms underlying ALX1's role in immune regulation and cellular morphogenesis. 2. The development of ALX1-targeting therapies may provide novel treatments for neurological disorders, cancer, and immunological diseases. 3. The study of ALX1's expression patterns and regulatory mechanisms in different cell types and tissues may reveal new insights into its functional scope and potential applications. **Future Directions:** The study of ALX1 has far-reaching implications for our understanding of immune regulation, cellular morphogenesis, and disease pathogenesis. Future research should focus on: 1. Elucidating the molecular mechanisms underlying ALX1's transcriptional regulation and cellular morphogenesis. 2. Investigating the therapeutic potential of ALX1-targeting strategies. 3. Exploring the expression patterns and regulatory mechanisms of ALX1 in different cell types and tissues. By advancing our knowledge of ALX1's functions and clinical significance, we can uncover new therapeutic targets and develop innovative treatments for a range of human diseases.

Genular Protein ID: 3411479999

Symbol: ALX1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q15699 Q546C8 Q96FH4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8756334

Title: Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA.

PubMed ID: 8756334

DOI: 10.1089/dna.1996.15.531

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9753625

Title: Human CART1, a paired-class homeodomain protein, activates transcription through palindromic binding sites.

PubMed ID: 9753625

DOI: 10.1006/bbrc.1998.9257

PubMed ID: 20451171

Title: Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

PubMed ID: 20451171

DOI: 10.1016/j.ajhg.2010.04.002

PubMed ID: 23288509

Title: ALX1 induces snail expression to promote epithelial-to-mesenchymal transition and invasion of ovarian cancer cells.

PubMed ID: 23288509

DOI: 10.1158/0008-5472.can-12-2377

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

Sequence Information:

  • Length: 326
  • Mass: 36961
  • Checksum: 9EB7374DE42E041B
  • Sequence:
    • MEFLSEKFAL KSPPSKNSDF YMGAGGPLEH VMETLDNESF YSKASAGKCV QAFGPLPRAE 
HHVRLERTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN SLRMSPVKGM QEKGELDELG 
DKCDSNVSSS KKRRHRTTFT SLQLEELEKV FQKTHYPDVY VREQLALRTE LTEARVQVWF 
QNRRAKWRKR ERYGQIQQAK SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM 
LPRDTSSCMT PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE 
FERRSSSIAV LRMKAKEHTA NISWAM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.