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MFHAS1
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  • MFHAS1
PROTEIN SUMMARY SECTION OVERVIEW GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MFHAS1
Synonyms LRRC65, MASL1
Gene descriptioni

Full gene name according to HGNC.

Multifunctional ROCO family signaling regulator 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 8
Cytoband p23.1
Chromosome location (bp) 8783354 - 8893630
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

1
Ensembl ENSG00000147324 (version 109)
Entrez gene 9258
HGNC HGNC:16982
UniProt Q9Y4C4 (UniProt - Evidence at protein level)
neXtProt NX_Q9Y4C4
GeneCards MFHAS1
Antibodypedia MFHAS1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Probable GTP-binding protein 1. Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways 2, 3, 4. Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor 5. Both inhibits and activates the TLR2-dependent signaling pathway 6. Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype 7. It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway 8. Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway 9.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Signal transduction inhibitor
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Immunity, Inflammatory response, Innate immunity
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

GTP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MFHAS1-201
ENSP00000276282
ENST00000276282
Q9Y4C4
[Direct mapping] Malignant fibrous histiocytoma-amplified sequence 1
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   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0002376 [immune system process]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005737 [cytoplasm]
GO:0006952 [defense response]
GO:0006954 [inflammatory response]
GO:0009966 [regulation of signal transduction]
GO:0009968 [negative regulation of signal transduction]
GO:0030218 [erythrocyte differentiation]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034121 [regulation of toll-like receptor signaling pathway]
GO:0034136 [negative regulation of toll-like receptor 2 signaling pathway]
GO:0034137 [positive regulation of toll-like receptor 2 signaling pathway]
GO:0034144 [negative regulation of toll-like receptor 4 signaling pathway]
GO:0035308 [negative regulation of protein dephosphorylation]
GO:0043030 [regulation of macrophage activation]
GO:0045087 [innate immune response]
GO:0046330 [positive regulation of JNK cascade]
GO:0050728 [negative regulation of inflammatory response]
GO:0051721 [protein phosphatase 2A binding]
GO:0051897 [positive regulation of protein kinase B signaling]
GO:0070374 [positive regulation of ERK1 and ERK2 cascade]
GO:1900181 [negative regulation of protein localization to nucleus]
GO:1900745 [positive regulation of p38MAPK cascade]
Show all
1052 aa
116.9 kDa
No 0

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