ALX4

Last updated
ALX4
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ALX4 , CRS5, FND2, ALX homeobox 4
External IDs OMIM: 605420 MGI: 108359 HomoloGene: 7229 GeneCards: ALX4
Orthologs
SpeciesHumanMouse
Entrez

60529

11695

Ensembl

ENSG00000052850

ENSMUSG00000040310

UniProt

Q9H161

O35137

RefSeq (mRNA)

NM_021926

NM_007442

RefSeq (protein)

NP_068745

NP_031468

Location (UCSC) Chr 11: 44.26 – 44.31 Mb Chr 2: 93.47 – 93.51 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein aristaless-like 4 is a protein that in humans is encoded by the ALX4 gene. [5] [6] [7] Alx4 belongs to the group-1 aristaless-related genes, a majority of which are linked to the development of the craniofacial and/or appendicular skeleton, along with PRRX1, SHOX, ALX3, and CART1. [8] The Alx4 protein acts as a transcriptional activator and is predominantly expressed in the mesenchyme of the developing embryonic limb buds. [9] [8] [10] Transcripts of this gene are detectable in the lateral plate mesoderm just prior to limb induction. Alx4 expression plays a major role in the determination of spatial orientation of the growing limb bud by aiding in the establishment of anteroposterior polarity of the limb. [9] [10] [11] It does this by working in conjunction with Gli3 and dHand to restrict the expression of Sonic Hedgehog (SHh) to the posterior mesenchyme, which will eventually give rise to the Zone of Polarizing Activity (ZPA). [12] This gene has been proven to be allelic with mutations and deletions giving rise to a host of craniofacial dismorphologies and several forms of polydactyly in mammalian development. [8] [13] A mouse-model knockout of this gene, dubbed Strong's luxoid, was originally created by Forstheofel in the 1960s and has been extensively studied to understand the partial and complete loss-of-function properties of this gene. [8] [9] [11] [12] [13] [14]

Contents

Interactions

ALX4 has been shown to interact with Lymphoid enhancer-binding factor 1. [15]

Related Research Articles

The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).

<span class="mw-page-title-main">Homeobox protein MSX-1</span> Protein-coding gene in the species Homo sapiens

Homeobox protein MSX-1, is a protein that in humans is encoded by the MSX1 gene. MSX1 transcripts are not only found in thyrotrope-derived TSH cells, but also in the TtT97 thyrotropic tumor, which is a well differentiated hyperplastic tissue that produces both TSHß- and a-subunits and is responsive to thyroid hormone. MSX1 is also expressed in highly differentiated pituitary cells which until recently was thought to be expressed exclusively during embryogenesis. There is a highly conserved structural organization of the members of the MSX family of genes and their abundant expression at sites of inductive cell–cell interactions in the embryo suggest that they have a pivotal role during early development.

<span class="mw-page-title-main">Msh homeobox 2</span> Protein-coding gene in the species Homo sapiens

Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.

<span class="mw-page-title-main">HOXD10</span> Protein-coding gene in humans

Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.

<span class="mw-page-title-main">HOXD13</span> Protein

Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene. This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms.

<span class="mw-page-title-main">PAX9</span> Protein-coding gene in the species Homo sapiens

Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene. It is also found in other mammals.

<span class="mw-page-title-main">DLX5</span> Mammalian protein found in Homo sapiens

Homeobox protein DLX-5 is a protein that in humans is encoded by the distal-less homeobox 5 gene, or DLX5 gene. DLX5 is a member of DLX gene family.

<span class="mw-page-title-main">HOXD3</span>

Homeobox protein Hox-D3 is a protein that in humans is encoded by the HOXD3 gene.

<span class="mw-page-title-main">PITX1</span> Protein-coding gene in the species Homo sapiens

Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.

<span class="mw-page-title-main">SIX3</span> Protein-coding gene in the species Homo sapiens

Homeobox protein SIX3 is a protein that in humans is encoded by the SIX3 gene.

<i>EN1</i> (gene) Protein-coding gene in the species Homo sapiens

Homeobox protein engrailed-1 is a protein that in humans is encoded by the EN1 gene.

<span class="mw-page-title-main">ALX1</span> Protein-coding gene in humans

ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene.

<span class="mw-page-title-main">Homeobox protein goosecoid</span> Protein-coding gene in the species Homo sapiens

Homeobox protein goosecoid(GSC) is a homeobox protein that is encoded in humans by the GSC gene. Like other homeobox proteins, goosecoid functions as a transcription factor involved in morphogenesis. In Xenopus, GSC is thought to play a crucial role in the phenomenon of the Spemann-Mangold organizer. Through lineage tracing and timelapse microscopy, the effects of GSC on neighboring cell fates could be observed. In an experiment that injected cells with GSC and observed the effects of uninjected cells, GSC recruited neighboring uninjected cells in the dorsal blastopore lip of the Xenopus gastrula to form a twinned dorsal axis, suggesting that the goosecoid protein plays a role in the regulation and migration of cells during gastrulation.

<span class="mw-page-title-main">NKX3-2</span> Protein-coding gene in the species Homo sapiens

NK3 homeobox 2 also known as NKX3-2 is a human gene. It is a homolog of bagpipe (bap) in Drosophila and therefore also known as Bapx1. The protein encoded by this gene is a homeodomain containing transcription factor.

X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.

Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome 11 (11p11.2). The syndrome has its name from Dr. Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts.

<span class="mw-page-title-main">IRX5</span> Protein-coding gene in the species Homo sapiens

Iroquois-class homeodomain protein IRX-5, also known as Iroquois homeobox protein 5, is a protein that in humans is encoded by the IRX5 gene.

<span class="mw-page-title-main">SATB2</span> Protein-coding gene in the species Homo sapiens

Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein that in humans is encoded by the SATB2 gene. SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling. SATB2 shows a restricted mode of expression and is expressed in certain cell nuclei. The SATB2 protein is mainly expressed in the epithelial cells of the colon and rectum, followed by the nuclei of neurons in the brain.

<span class="mw-page-title-main">ALX3</span> Protein-coding gene in the species Homo sapiens

The ALX3 gene, also known as aristaless-like homeobox 3, is a protein coding gene that provides instructions to build a protein which is a member of the homeobox protein family. This grouping regulates patterns of anatomical development. The gene encodes a nuclear protein that functions as a transcription regulator involved in cell-type differentiation and development.

<span class="mw-page-title-main">TBX15</span>

T-box transcription factor TBX15 is protein that is encoded in humans by the Tbx15 gene, mapped to Chromosome 3 in mice and Chromosome 1 in humans. Tbx15 is a transcription factor that plays a key role in embryonic development. Like other members of the T-box subfamily, Tbx15 is expressed in the notochord and primitive streak, where it assists with the formation and differentiation of the mesoderm. It is steadily downregulated after segmentation of the paraxial mesoderm.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000052850 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040310 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG (November 2000). "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome". American Journal of Human Genetics. 67 (5): 1327–32. doi:10.1016/S0002-9297(07)62963-2. PMC   1288575 . PMID   11017806.
  6. ↑ Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ (April 1996). "Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11". American Journal of Human Genetics. 58 (4): 734–42. PMC   1914683 . PMID   8644736.
  7. ↑ "Entrez Gene: ALX4 aristaless-like homeobox 4".
  8. 1 2 3 Takahashi M, Tamura K, Büscher D, Masuya H, Yonei-Tamura S, Matsumoto K, Naitoh-Matsuo M, Takeuchi J, Ogura K, Shiroishi T, Ogura T, Izpisúa Belmonte JC (November 1998). "The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development". Development. 125 (22): 4417–25. doi:10.1242/dev.125.22.4417. PMID   9778501.
  9. 1 2 Panman L, Drenth T, Tewelscher P, Zuniga A, Zeller R (2004-07-01). "Genetic interaction of Gli3 and Alx4 during limb development". The International Journal of Developmental Biology. 49 (4): 443–8. doi: 10.1387/ijdb.051984lp . PMID   15968591.
  10. 1 2 Kuijper S, Feitsma H, Sheth R, Korving J, Reijnen M, Meijlink F (September 2005). "Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh". Developmental Biology. 285 (2): 533–44. doi: 10.1016/j.ydbio.2005.06.017 . PMID   16039644.
  11. 1 2 Niswander L (2002). "Interplay between the molecular signals that control vertebrate limb development". The International Journal of Developmental Biology. 46 (7): 877–81. PMID   12455624.
  12. 1 2 Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA (November 2009). "ALX4 dysfunction disrupts craniofacial and epidermal development". Human Molecular Genetics. 18 (22): 4357–66. doi: 10.1093/hmg/ddp391 . PMID   19692347.
  13. ↑ Forsthoefel PF (November 1963). "The embryological development of the effects of Strong's luxoid gene in the mouse". Journal of Morphology. 113 (3): 427–51. doi:10.1002/jmor.1051130307. PMID   14079603. S2CID   27145861.
  14. ↑ Boras K, Hamel PA (January 2002). "Alx4 binding to LEF-1 regulates N-CAM promoter activity". The Journal of Biological Chemistry. 277 (2): 1120–7. doi: 10.1074/jbc.M109912200 . PMID   11696550.

Further reading


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