EMI domain containing protein 1 is a protein that in humans is encoded by the EMID1 gene. [1]
In molecular biology, a transcription factor (TF) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are 1500-1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome.
Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells.
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells.
SOX genes encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box. This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. Homologues have been identified in insects, nematodes, amphibians, reptiles, birds and a range of mammals. However, HMG boxes can be very diverse in nature, with only a few amino acids being conserved between species.
The Hedgehog signaling pathway is a signaling pathway that transmits information to embryonic cells required for proper cell differentiation. Different parts of the embryo have different concentrations of hedgehog signaling proteins. The pathway also has roles in the adult. Diseases associated with the malfunction of this pathway include cancer.
ADGRV1, also known as G protein-coupled receptor 98 (GPR98) or Very Large G-protein coupled receptor 1 (VLGR1), is a protein that in humans is encoded by the GPR98 gene. Several alternatively spliced transcripts have been described.
F-box only protein 5 is a protein that in humans is encoded by the FBXO5 gene.
Homeobox protein Hox-B4 is a protein that in humans is encoded by the HOXB4 gene.
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.
Lysine N-methyltransferase 2C (KMT2C) also known as myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is an enzyme that in humans is encoded by the KMT2C gene.
Homeobox protein engrailed-1 is a protein that in humans is encoded by the EN1 gene.
Homeobox protein Hox-D1 is a protein that in humans is encoded by the HOXD1 gene.
Homeobox protein OTX1 is a protein that in humans is encoded by the OTX1 gene.
Homeobox protein DLX-2 is a protein that in humans is encoded by the DLX2 gene.
Disintegrin and metalloproteinase domain-containing protein 11 is an enzyme that in humans is encoded by the ADAM11 gene.
T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.
Zinc finger protein 19 is a protein that in humans is encoded by the ZNF19 gene.
Collagen alpha-1(XXVI) chain is a protein that in humans is encoded by the EMID2 gene.
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
CUB domain is an evolutionarily conserved protein domain.