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MFHAS1 - multifunctional ROCO family signaling regulator 1 Gene

Also Known as MASL1; ROCO4; LRRC65

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 9258

About MFHAS1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:8,783,354-8,893,630 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 205 orthologues and 31 paralogues. Ubiquitous expression in lung (RPKM 8.7), spleen (RPKM 8.4) and 25 other tissues.

Summary

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]

MFHAS1 Products (1)

mRNA	Protein	Name
NM_004225.3	NP_004216.2	malignant fibrous histiocytoma-amplified sequence 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables GTP binding	IDA IDA: Inferred from direct assay	24286120	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23327923	GOA
enables protein phosphatase 2A binding	IDA IDA: Inferred from direct assay	28609714	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	28471450	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in erythrocyte differentiation	IMP IMP: Inferred from mutant phenotype	23327923	GOA
involved in inflammatory response	IMP IMP: Inferred from mutant phenotype	26599367	GOA
involved in innate immune response	IMP IMP: Inferred from mutant phenotype	28471450	GOA
involved in negative regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	29168081	GOA
involved in negative regulation of protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	28609714	GOA
involved in negative regulation of toll-like receptor 2 signaling pathway	IMP IMP: Inferred from mutant phenotype	26599367	GOA
involved in negative regulation of toll-like receptor 4 signaling pathway	IMP IMP: Inferred from mutant phenotype	28609714	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	23327923	GOA
involved in positive regulation of JNK cascade	IMP IMP: Inferred from mutant phenotype	28471450	GOA
involved in positive regulation of p38MAPK cascade	IMP IMP: Inferred from mutant phenotype	28471450	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	29168081	GOA
involved in positive regulation of toll-like receptor 2 signaling pathway	IMP IMP: Inferred from mutant phenotype	26599367	GOA
involved in regulation of macrophage activation	IMP IMP: Inferred from mutant phenotype	28471450	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytoplasm	IDA IDA: Inferred from direct assay	24286120	GOA
NOT located in cytoskeleton	IDA IDA: Inferred from direct assay	24286120	GOA
NOT located in lysosome	IDA IDA: Inferred from direct assay	24286120	GOA
NOT located in mitochondrion	IDA IDA: Inferred from direct assay	24286120	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFHAS1 Protein Structure

LRR_8

LRR_1

0
200
400
600
800
1000
1052 a.a.

Protein Preferred Names	Protein Names
malignant fibrous histiocytoma-amplified sequence 1	MFH-amplified sequences with leucine-rich tandem repeats 1

MFHAS1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	MFHAS1	Q9Y4C4	PGRMC2	Homo sapiens	O15173	Anti Tag CoIP	33961781
Intra	MFHAS1	Q9Y4C4	HSPD1	Homo sapiens	P10809	Anti Tag CoIP	24286120
Intra	MFHAS1	Q9Y4C4	HSPD1	Homo sapiens	P10809	GMS	24286120

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Malignant Fibrous Histiocytoma	Undifferentiated Pleomorphic Sarcoma Ups Histiocytoma, Malignant Fibrous Fibroxanthosarcoma Mfh Malignant Fibrohistiocytic Tumors Histiocytoma, Fibrous, Malignant
Fibrous Histiocytoma	Benign Fibrous Histiocytoma Histiocytoma, Benign Fibrous Fibroxanthoma Histiocytoma Fibrous
Pharynx Squamous Cell Carcinoma
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Erythrocytosis, Familial, 7	ECYT7 Erythrocytosis 7 Familial Erythrocytosis 7 Erythrocytosis, Alpha-Globin Type Polycythemia, Alpha-Globin Type Alpha-Globin Type Erythrocytosis Alpha-Globin Type Polycythemia
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08382	MFHAS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	MFHAS1	VGNC	VGNC:107358
Canis familiaris	MFHAS1	VGNC	VGNC:107357
Rattus norvegicus	MFHAS1	RGD	RGD:1308812
Macaca mulatta	MFHAS1	VGNC	VGNC:107360
Mus musculus	MFHAS1	MGD	MGI:1098644
Others	MFHAS1	NCBI