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Beschreibung:
The homeobox DNA-binding domain is a 60 amino acid motif that is conserved among many species and functions to bind DNA via a helix-turn-helix structure, thereby playing a role in transcriptional regulation and in the control of gene expression. MIXL1 (Mix1 homeobox-like 1), also known as MIXL, is a 232 amino acid protein that localizes to the nucleus and contains one homeobox DNA-binding domain. Expressed in lymph tissues, MIXL1 functions as a transcription factor that plays an essential role in axial mesendoderm morphogenesis and endoderm formation and is also required for cellular differentiation during blood development. Additionally, MIXL1 is involved in maturation of heart and gut tissue during embryogenesis and may also act as a negative regulator of brachyury expression. Overexpression of MIXL1 is associated with non-Hodgkin and Hodgkin lymphomas, suggesting a role in carcinogenesis.
Beschreibung:
FERM domains are roughly 150 amino acids in length and are found in a number of cytoskeletal-associated proteins such as Ezrin, Radixin, Moesin and 4.1 (erythrocyte membrane protein band 4.1), where they provide a link between cytoskeletal signals and membrane dynamics. EPB41L5 (erythrocyte membrane protein band 4.1 like 5), also known as BE37 or YMO1, is a 733 amino acid cytoplasmic protein that contains one FERM domain, which it uses to bind CRB1 (crumbs homolog 1). EPB41L5 is a homolog of zebrafish 'mosaic eyes' (moe), and is widely expressed but found at highest levels in ovary, kidney and brain, and is known to colocalize with _-catenin. EPB41L5 may participate in tight junction positioning during the establishment of epithelial cell polarity, and exists as four alternatively spliced isoforms that are encoded by a gene located on human chromosome 2q14.2.
Beschreibung:
A gene of chromosome 6q23 encodes the 640 amino acid protein, EYA4 (eyes absent) (1). EYA is one of four members of the eyes absent family (1). A 271 amino acid domain at the carboxyl terminal is highly conserved amongst the members of the eyes absent family (1). EYA4 is expressed in the craniofacial mesenchyme, the dermamyotome, and the limb (1). The conserved region in other EYA proteins interacts with SIX, DACH, and G-proteins, which regulate transcription in early embryonic development (1,2,3,4). SIX translocates EYA1-3 to the nucleus, and G-proteins can stop this interaction (3,4). Premature stop codon mutations in EYA4 cause postlingual, progressive autosomal dominant hearing loss in humans (2). This shows that EYA4 is also vital to the mature organ of Corti (2). EYA4 may cause oculo-dento-digital syndrome, based on its expression pattern and map postion (1).
Beschreibung:
A gene of chromosome 6q23 encodes the 640 amino acid protein, EYA4 (eyes absent) (1). EYA is one of four members of the eyes absent family (1). A 271 amino acid domain at the carboxyl terminal is highly conserved amongst the members of the eyes absent family (1). EYA4 is expressed in the craniofacial mesenchyme, the dermamyotome, and the limb (1). The conserved region in other EYA proteins interacts with SIX, DACH, and G-proteins, which regulate transcription in early embryonic development (1,2,3,4). SIX translocates EYA1-3 to the nucleus, and G-proteins can stop this interaction (3,4). Premature stop codon mutations in EYA4 cause postlingual, progressive autosomal dominant hearing loss in humans (2). This shows that EYA4 is also vital to the mature organ of Corti (2). EYA4 may cause oculo-dento-digital syndrome, based on its expression pattern and map postion (1).
Beschreibung:
TULP2 is a member of a family of tubby-like (TULP) proteins which share a conserved C terminal region of approximately 200 amino acid residues. It is strongly expressed in testis and is expressed in the retina. It is also expressed in cancer cell lines.
Beschreibung:
Zinc finger FYVE domain-containing protein 27 (ZFYVE27), also known as SPG33, is a 411 amino acid member of the FYVE-finger family of proteins. The FYVE domain is a cysteine-rich domain of about 70 amino acids that plays a role in the endosomal localization of the FYVE-finger proteins, and a majority of these proteins serve as regulators of endocytic membrane trafficking. ZFYVE27, a multi-pass membrane protein, is an endosomal protein that binds to Spastin, a protein that is primarily involved in microtubule dynamics and severing, vesicular trafficking and endosomal trafficking. Mutations in the gene encoding ZFTVE27 affect neuronal intracellular trafficking in the corticospinal tract and are thought to lead to hereditary spastic paraplegia (HSP), a neurodegenerative disorder, characterized by progressive paralysis of the legs, which is caused by impaired axonal transport. Five isoforms of ZFYVE27 exist as a result of alternative splicing events.
Beschreibung:
The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.
Beschreibung:
Apolipoproteins are protein components of plasma lipoproteins (1). The apolipoprotein L gene family encodes six highly homologous proteins designated apoL-I to -VI, which are associated with large high density type lipoproteins (HDL) (2,3). The human apoL family maps to chromosome 22q12.1-13.1 within a 127,000-bp region (4). ApoL has been characterized as a pancreas specific, 383-amino acid protein that contains a 12-amino acid secretory signal peptide (4). The apoL genes have TATA-less promoters and contain putative sterol regulatory elements, suggesting that transcription of these genes may be coordinated with that of the low density lipoprotein receptor and genes in pathways involving the synthesis of triglycerides and cholesterol (3). ApoL homologs can undergo 10 fold changes in expression during atherosclerotic changes in vascular endothelial cells, which includes the inflammatory reaction of atherosclerotic lesions (5).
Beschreibung:
Fyb (Fyn binding protein) and the anchoring proteins SKAP55 (src kinase-associated phosphoprotein) and SKAP55-R (SKAP55-related protein) associate with the tyrosine kinase p59fyn (1–3). SKAP55 and SKAP55-R bind to Fyb through their SH3 domains and function as substrates for p59Fyn in resting T cells (1–3). SKAP55 contains an amino-terminal pleckstrin homology domain and a carboxy-terminal SH3 domain binding motif of adjacent arginine and lysine residues followed by tandem tyrosines (i.e. RKxxYxxY) (4,5). SKAP55-R, similar in overall structure to SKAP55, contains a coiled-coil N-terminal domain (1,2). SKAP55 associates with SLAP-130, another component of the Fyn complex, which plays a role in the regulation of signaling events initiated by lymphocyte antigen receptors leading up to T cell activation (6). The human Fyb gene maps to chromosome 5p13.1 and encodes a 783 amino acid protein (7).
Beschreibung:
LMBR1 is a 490 amino acid multi-pass membrane protein that is widely expressed with strongest expression in heart and pancreas. Belonging to the LIMR family, LMBR1 shares 95% sequence identity with the mouse protein and may play crucial role in the evolution of limb and skeletal system. LMBR1 is critical for expression of sonic hedgehog (Shh) in the developing posterior limb bud mesenchyme. Mutations in the gene encoding LMBR1 is the cause of several rare conditions such as acheiropody (ACHP) and syndactyly type 4 (SDYT4). ACHP is an autosomal recessive inherited disorder characterized by bilateral congenital amputations of the hands and feet. LMBR1L (limb region 1 protein homolog-like), also known as LIMR (Lipocalin-1-interacting membrane receptor), is a 489 amino acid multi-pass membrane protein that is thought to act as a receptor for Lipocalin-1 and may also assist in its endocytosis.
Beschreibung:
Apolipoproteins are protein components of plasma lipoproteins. The apolipoprotein L gene family encodes six highly homologous proteins designated apoL-I to -VI, which are associated with large high density type lipoproteins (HDL). The human apoL family maps to chromosome 22q12.1-13.1 within a 127,000-bp region. ApoL has been characterised as a pancreas specific, 383-amino acid protein that contains a 12-amino acid secretory signal peptide. The apoL genes have TATA-less promoters and contain putative sterol regulatory elements, suggesting that transcription of these genes may be coordinated with that of the low density lipoprotein receptor and genes in pathways involving the synthesis of triglycerides and cholesterol. ApoL homologs can undergo 10 fold changes in expression during atherosclerotic changes in vascular endothelial cells, which includes the inflammatory reaction of atherosclerotic lesions.
Beschreibung:
Fyb (Fyn binding protein) and the anchoring proteins SKAP55 (src kinase-associated phosphoprotein) and SKAP55-R (SKAP55-related protein) associate with the tyrosine kinase p59fyn (1–3). SKAP55 and SKAP55-R bind to Fyb through their SH3 domains and function as substrates for p59Fyn in resting T cells (1–3). SKAP55 contains an amino-terminal pleckstrin homology domain and a carboxy-terminal SH3 domain binding motif of adjacent arginine and lysine residues followed by tandem tyrosines (i.e. RKxxYxxY) (4,5). SKAP55-R, similar in overall structure to SKAP55, contains a coiled-coil N-terminal domain (1,2). SKAP55 associates with SLAP-130, another component of the Fyn complex, which plays a role in the regulation of signaling events initiated by lymphocyte antigen receptors leading up to T cell activation (6). The human Fyb gene maps to chromosome 5p13.1 and encodes a 783 amino acid protein (7).
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