Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9258 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Multifunctional ROCO family signaling regulator 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MFHAS1 |
SynonymsGene synonyms aliases
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LRRC65, MASL1, ROCO4 |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p23.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 leu |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9Y4C4 |
Protein name |
Malignant fibrous histiocytoma-amplified sequence 1 (Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1) |
Protein function |
Probable GTP-binding protein (PubMed:24286120). Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways (PubMed:26599367, PubMed:28471450, PubMed:2860 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13855 |
LRR_8 |
87 → 147 |
Leucine rich repeat |
Repeat |
PF13855 |
LRR_8 |
111 → 170 |
Leucine rich repeat |
Repeat |
PF13855 |
LRR_8 |
150 → 193 |
Leucine rich repeat |
Repeat |
PF13855 |
LRR_8 |
181 → 239 |
Leucine rich repeat |
Repeat |
PF13855 |
LRR_8 |
204 → 262 |
Leucine rich repeat |
Repeat |
PF13855 |
LRR_8 |
250 → 308 |
Leucine rich repeat |
Repeat |
PF08477 |
Roc |
411 → 541 |
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Domain |
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Sequence |
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Sequence length |
1052 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Arthritis |
Degenerative polyarthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
22763110 |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 |
30804561 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Lupus erythematosus |
Lupus Erythematosus, Systemic |
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28714469 |
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