| FIBCD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | FIBCD1 , fibrinogen C domain containing 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613357 MGI: 2138953 HomoloGene: 122246 GeneCards: FIBCD1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Fibrinogen C domain containing 1(FIBCD1) is a protein that in humans is encoded by the FIBCD1 gene localized on chromosome 9q34.1 in close proximity to the genes encoding L- and M-ficolin. [4] FIBCD1 is thought to have a role in both host defence and gut homeostasis.
FIBCD1 is a type II trans-membrane endocytic receptor that is expressed apically on enterocytes and on airway epithelial cells (Schlosser et al., 2009). It is thought to mediate the endocytosis of bound ligands which are released to the surroundings after degradation, with FIBCD1 being recycled to the plasma membrane.
The homology between FIBCD1 and members of the ficolins, which are extensively characterised pattern-recognition molecules that have roles in the immune response, indicate FIBCD1 may have a role in host defence. Two potential phosphorylation sites in the cytoplasmic part of FIBCD1 suggest that FIBCD1 also may be a signaling protein (Schlosser et al., 2009).
FIBCD1 forms homo-tetramers in the plasma membrane, with each protein chain consisting of a short cytoplasmic tail, a trans-membrane helix, and an ectodomain containing a coiled-coil region, a polycationic region, and a C-terminal fibrinogen-like recognition domain, otherwise known as the FReD. (Shrive, et al., 2014) [5]
Leukosialin also known as sialophorin or CD43 is a transmembrane cell surface protein that in humans is encoded by the SPN (sialophorin) gene.
Integrin alpha-IIb is a protein that in humans is encoded by the ITGA2B gene. ITGA2B, also known as CD41, encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibrinogen receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. At least 38 disease-causing mutations in this gene have been discovered. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling.
FBLN1 is the gene encoding fibulin-1, an extracellular matrix and plasma protein.
Latrophilin 1 is a protein that in humans is encoded by the ADGRL1 gene. It is a member of the adhesion-GPCR family of receptors. Family members are characterized by an extended extracellular region with a variable number of protein domains coupled to a TM7 domain via a domain known as the GPCR-Autoproteolysis INducing (GAIN) domain.
Cadherin EGF LAG seven-pass G-type receptor 1 also known as flamingo homolog 2 or cadherin family member 9 is a protein that in humans is encoded by the CELSR1 gene.
Syntaxin-6 is a protein that in humans is encoded by the STX6 gene.
EH domain-containing protein 1, also known as testilin or PAST homolog 1 (PAST1), is a protein that in humans is encoded by the EHD1 gene belonging to the EHD protein family.
Sorting nexin-9 is a protein that in humans is encoded by the SNX9 gene.
Ficolin-2, which was initially identified as L-ficolin, is a protein that in humans is encoded by the FCN2 gene.
Ficolin-1, and also commonly termed M-ficolin is a protein that in humans is encoded by the FCN1 gene.
Fibroblast growth factor receptor-like 1 is a protein that in humans is encoded by the FGFRL1 gene.
Olfactory receptor 13J1 is a protein that in humans is encoded by the OR13J1 gene.
Cytohesin-3 is a protein that in humans is encoded by the CYTH3 gene.
Protocadherin alpha-12 is a protein that in humans is encoded by the PCDHA12 gene.
Junctophilin 2, also known as JPH2, is a protein which in humans is encoded by the JPH2 gene. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described.
Sorting nexin family member 27, also known as SNX27, is a human gene.
Copine-1 is a protein that in humans is encoded by the CPNE1 gene.
Junctophilin-1 is a protein that in humans is encoded by the JPH1 gene.
Transmembrane and coiled-coil domain 6, TMCO6, is a protein that in humans is encoded by the TMCO6 gene with aliases of PRO1580, HQ1580 or FLJ39769.1.
GRAM domain containing 1B, also known as GRAMD1B, Aster-B and KIAA1201, is a cholesterol transport protein that is encoded by the GRAMD1B gene. It contains a transmembrane region and two domains of known function; the GRAM domain and a VASt domain. It is anchored to the endoplasmic reticulum. This highly conserved gene is found in a variety of vertebrates and invertebrates. Homologs are found in yeast.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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