ALX1

Last updated
ALX1
Identifiers
Aliases ALX1 , CART1, FND3, HEL23, ALX homeobox 1
External IDs OMIM: 601527 MGI: 104621 HomoloGene: 5075 GeneCards: ALX1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006982

NM_172553

RefSeq (protein)

NP_008913

NP_766141

Location (UCSC) Chr 12: 85.28 – 85.3 Mb Chr 10: 103 – 103.03 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ALX homeobox protein 1 is a protein that in humans is encoded by the ALX1 gene. [5] [6] [7]

Contents

Function

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. [7]

In Darwin's finches, inhabiting the Galapagos islands, ALX1 has been linked to the diversity of beak shapes. [8]

Interactions

ALX1 has been shown to interact with IPO13. [9]

Related Research Articles

Homeobox DNA pattern affecting anatomy development

A homeobox is a DNA sequence, around 180 base pairs long, found within genes that are involved in the regulation of patterns of anatomical development (morphogenesis) in animals, fungi, plants, and numerous single cell eukaryotes. Homeobox genes encode homeodomain protein products that are transcription factors sharing a characteristic protein fold structure that binds DNA to regulate expression of target genes. Homeodomain proteins regulate gene expression and cell differentiation during early embryonic development, thus mutations in homeobox genes can cause developmental disorders.

ZEB2

Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene. The ZEB2 protein is a transcription factor that plays a role in the transforming growth factor β (TGFβ) signaling pathways that are essential during early fetal development.

MSX1

Msh homeobox 1, also known as MSX1, 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.

Msh homeobox 2

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

<i>CRX</i> (gene)

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.

PKNOX1

PBX/Knotted 1 Homeobox 1 (PKNOX1) is a protein that in humans is encoded by the PKNOX1 gene.

SIX1

Homeobox protein SIX1 is a protein that in humans is encoded by the SIX1 gene.

HOXB9

Homeobox protein Hox-B9 is a protein that in humans is encoded by the HOXB9 gene.

PRRX1

Paired related homeobox 1 is a protein that in humans is encoded by the PRRX1 gene.

EMX2

Homeobox protein Emx2 is a protein that in humans is encoded by the EMX2 gene.

OTX1

Homeobox protein OTX1 is a protein that in humans is encoded by the OTX1 gene.

HOXC10

Homeobox protein Hox-C10 is a protein that in humans is encoded by the HOXC10 gene.

MDFI

MyoD family inhibitor is a protein that in humans is encoded by the MDFI gene.

MEIS2

Homeobox protein Meis2 is a protein that in humans is encoded by the MEIS2 gene.

VSX2

Visual system homeobox 2 is a protein that in humans is encoded by the VSX2 gene.

PITX3

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.

ALX4

Homeobox protein aristaless-like 4 is a protein that in humans is encoded by the ALX4 gene. 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. The Alx4 protein acts as a transcriptional activator and is predominantly expressed in the mesenchyme of the developing embryonic limb buds. 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. 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). 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. 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.

LHX4

LIM/homeobox protein Lhx4 is a protein that in humans is encoded by the LHX4 gene.

RNF12

E3 ubiquitin-protein ligase RLIM is an enzyme that in humans is encoded by the RLIM gene.

HOXA2

Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000180318 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036602 - 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. Gordon DF, Wagner J, Atkinson BL, Chiono M, Berry R, Sikela J, Gutierrez-Hartmann A (Jul 1996). "Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA". DNA and Cell Biology. 15 (7): 531–41. doi:10.1089/dna.1996.15.531. PMID   8756334.
  6. Régnier CH, Tomasetto C, Moog-Lutz C, Chenard MP, Wendling C, Basset P, Rio MC (Oct 1995). "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". The Journal of Biological Chemistry. 270 (43): 25715–21. doi: 10.1074/jbc.270.43.25715 . PMID   7592751.
  7. 1 2 "Entrez Gene: CART1 cartilage paired-class homeoprotein 1".
  8. Lamichhaney S, Berglund J, Almén MS, Maqbool K, Grabherr M, Martinez-Barrio A, Promerová M, Rubin CJ, Wang CZamani N, Grant BR, Webster MT, Andersson L (11 February 2015). "Evolution of Darwin's finches and their beaks revealed by genome sequencing". Nature. 518 (7539): 371–5. doi:10.1038/nature14181. PMID   25686609. S2CID   4462253.
  9. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

Further reading