MFAP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | MFAP5 , MAGP-2, MAGP2, MFAP-5, MP25, AAT9, microfibrillar associated protein 5, microfibril associated protein 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 601103 MGI: 1354387 HomoloGene: 2599 GeneCards: MFAP5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Microfibrillar-associated protein 5 is a protein that in humans is encoded by the MFAP5 gene. [5] [6] [7]
This gene encodes a 25-kD microfibril-associated glycoprotein which is rich in serine and threonine residues. It lacks a hydrophobic carboxyl terminus and proline-, glutamine-, and tyrosine-rich regions, which are characteristics of a related 31-kDa microfibril-associated glycoprotein (MFAP2). The close similarity between these two proteins is confined to a central region of 60 aa where precise alignment of 7 cysteine residues occurs. The structural differences suggest that this encoded protein has some functions that are distinct from those of MFAP2. [7]
Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.
Fibulin-2 is a protein that in humans is encoded by the FBLN2 gene.
Latent-transforming growth factor beta-binding protein 1 is a protein that in humans is encoded by the LTBP1 gene.
Microfibrillar-associated protein 2 is a protein that in humans is encoded by the MFAP2 gene.
Latent-transforming growth factor beta-binding protein 2 is a protein that in humans is encoded by the LTBP2 gene.
Procollagen C-endopeptidase enhancer 1 is an enzyme that in humans is encoded by the PCOLCE gene.
Zinc finger and BTB domain-containing protein 7A is a protein that in humans is encoded by the ZBTB7A gene.
Elastin microfibril interfacer 1 (EMILIN-1) is a protein that in humans is encoded by the EMILIN1 gene. It is the best characterized member of the EMILIN family of extracellular matrix glycoproteins.
Sulfiredoxin-1 is a protein that in humans is encoded by the SRXN1 gene.
Large neutral amino acids transporter small subunit 2 is a protein that in humans is encoded by the SLC7A8 gene.
Tetraspanin-4 is a protein that in humans is encoded by the TSPAN4 gene.
ETS homologous factor is a protein that in humans is encoded by the EHF gene. This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be associated with asthma susceptibility. This protein may be involved in epithelial differentiation and carcinogenesis.
Carbohydrate sulfotransferase 15 is an enzyme that in humans is encoded by the CHST15 gene. It belongs to the N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase enzyme class.
Rh family, B glycoprotein, also known as RHBG, is an ammonia transporter protein which in humans is encoded by the RHBG gene.
Cysteine-rich PDZ-binding protein is a protein that in humans is encoded by the CRIPT gene.
39S ribosomal protein L22, mitochondrial is a protein that in humans is encoded by the MRPL22 gene.
Endoplasmic reticulum-Golgi intermediate compartment protein 2 (ERGIC2) is a gene located on human chromosome 12p11. It encodes a protein of 377 amino acid residues. ERGIC2 protein is also known as PTX1, CDA14 or Erv41.
Chondroitin sulfate proteoglycan 5 is a protein that in humans is encoded by the CSPG5 gene.
LIM/homeobox protein Lhx2 is a protein that in humans is encoded by the LHX2 gene.
Mps one binder kinase activator-like 1A, also known as Mob1 homolog 1A, is a protein that in humans is encoded by the MOBKL1A gene.