MFHAS1 - multifunctional ROCO family signaling regulator 1 Gene

Homo sapiens

Also known as MASL1; ROCO4; LRRC65

Gene ID: 9258 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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	Reference	Source
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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08382	MFHAS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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