Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9258
Gene name Gene Name - the full gene name approved by the HGNC.	Multifunctional ROCO family signaling regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MFHAS1
Synonyms (NCBI Gene) Gene synonyms aliases	LRRC65, MASL1, ROCO4
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p23.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(211)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028381	hsa-miR-32-5p	Sequencing	20371350
MIRT029740	hsa-miR-26b-5p	Microarray	19088304
MIRT050879	hsa-miR-17-5p	CLASH	23622248
MIRT050073	hsa-miR-26a-5p	CLASH	23622248
MIRT045976	hsa-miR-125b-5p	CLASH	23622248
MIRT042688	hsa-miR-196b-5p	CLASH	23622248
MIRT037195	hsa-miR-877-3p	CLASH	23622248
MIRT050073	hsa-miR-26a-5p	HITS-CLIP	27418678
MIRT029740	hsa-miR-26b-5p	HITS-CLIP	27418678
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT1146132	hsa-miR-1245b-3p	CLIP-seq
MIRT1146133	hsa-miR-1253	CLIP-seq
MIRT1146134	hsa-miR-125a-5p	CLIP-seq
MIRT1146135	hsa-miR-125b	CLIP-seq
MIRT1146136	hsa-miR-1260	CLIP-seq
MIRT1146137	hsa-miR-1260b	CLIP-seq
MIRT1146138	hsa-miR-128	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT1146141	hsa-miR-188-3p	CLIP-seq
MIRT1146142	hsa-miR-199a-5p	CLIP-seq
MIRT1146143	hsa-miR-199b-5p	CLIP-seq
MIRT1146144	hsa-miR-223	CLIP-seq
MIRT1146145	hsa-miR-23a	CLIP-seq
MIRT1146146	hsa-miR-23b	CLIP-seq
MIRT1146147	hsa-miR-23c	CLIP-seq
MIRT1146148	hsa-miR-2467-5p	CLIP-seq
MIRT1146149	hsa-miR-25	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146152	hsa-miR-27a	CLIP-seq
MIRT1146153	hsa-miR-27b	CLIP-seq
MIRT1146154	hsa-miR-298	CLIP-seq
MIRT1146155	hsa-miR-3120-3p	CLIP-seq
MIRT1146156	hsa-miR-3130-5p	CLIP-seq
MIRT1146157	hsa-miR-3137	CLIP-seq
MIRT1146158	hsa-miR-3149	CLIP-seq
MIRT1146159	hsa-miR-3156-3p	CLIP-seq
MIRT1146160	hsa-miR-3167	CLIP-seq
MIRT1146161	hsa-miR-3177-3p	CLIP-seq
MIRT1146162	hsa-miR-3188	CLIP-seq
MIRT1146163	hsa-miR-3189-3p	CLIP-seq
MIRT1146164	hsa-miR-32	CLIP-seq
MIRT1146165	hsa-miR-3614-3p	CLIP-seq
MIRT1146166	hsa-miR-363	CLIP-seq
MIRT1146167	hsa-miR-367	CLIP-seq
MIRT1146168	hsa-miR-3672	CLIP-seq
MIRT1146169	hsa-miR-3688-3p	CLIP-seq
MIRT1146170	hsa-miR-3908	CLIP-seq
MIRT1146171	hsa-miR-3934	CLIP-seq
MIRT1146172	hsa-miR-3942-3p	CLIP-seq
MIRT1146173	hsa-miR-3975	CLIP-seq
MIRT1146174	hsa-miR-4251	CLIP-seq
MIRT1146175	hsa-miR-4274	CLIP-seq
MIRT1146176	hsa-miR-4277	CLIP-seq
MIRT1146177	hsa-miR-4297	CLIP-seq
MIRT1146178	hsa-miR-4302	CLIP-seq
MIRT1146179	hsa-miR-4319	CLIP-seq
MIRT1146180	hsa-miR-432	CLIP-seq
MIRT1146181	hsa-miR-4324	CLIP-seq
MIRT1146182	hsa-miR-4328	CLIP-seq
MIRT1146183	hsa-miR-4443	CLIP-seq
MIRT1146184	hsa-miR-4448	CLIP-seq
MIRT1146185	hsa-miR-4482	CLIP-seq
MIRT1146186	hsa-miR-455-5p	CLIP-seq
MIRT1146187	hsa-miR-4649-3p	CLIP-seq
MIRT1146188	hsa-miR-4668-3p	CLIP-seq
MIRT1146189	hsa-miR-4732-3p	CLIP-seq
MIRT1146190	hsa-miR-4753-3p	CLIP-seq
MIRT1146191	hsa-miR-4786-3p	CLIP-seq
MIRT1146192	hsa-miR-4789-5p	CLIP-seq
MIRT1146193	hsa-miR-485-5p	CLIP-seq
MIRT1146194	hsa-miR-513a-3p	CLIP-seq
MIRT1146195	hsa-miR-520d-5p	CLIP-seq
MIRT1146196	hsa-miR-524-5p	CLIP-seq
MIRT1146197	hsa-miR-548g	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146199	hsa-miR-568	CLIP-seq
MIRT1146200	hsa-miR-570	CLIP-seq
MIRT1146201	hsa-miR-605	CLIP-seq
MIRT1146202	hsa-miR-642a	CLIP-seq
MIRT1146203	hsa-miR-670	CLIP-seq
MIRT1146204	hsa-miR-7	CLIP-seq
MIRT1146205	hsa-miR-765	CLIP-seq
MIRT1146206	hsa-miR-876-5p	CLIP-seq
MIRT1146207	hsa-miR-92a	CLIP-seq
MIRT1146208	hsa-miR-92b	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT2041546	hsa-miR-1224-3p	CLIP-seq
MIRT1146133	hsa-miR-1253	CLIP-seq
MIRT1146134	hsa-miR-125a-5p	CLIP-seq
MIRT1146135	hsa-miR-125b	CLIP-seq
MIRT2041547	hsa-miR-1276	CLIP-seq
MIRT2041548	hsa-miR-1283	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT2041549	hsa-miR-1911	CLIP-seq
MIRT2041550	hsa-miR-2277-3p	CLIP-seq
MIRT2041551	hsa-miR-3136-3p	CLIP-seq
MIRT1146157	hsa-miR-3137	CLIP-seq
MIRT1146160	hsa-miR-3167	CLIP-seq
MIRT1146161	hsa-miR-3177-3p	CLIP-seq
MIRT2041552	hsa-miR-3189-5p	CLIP-seq
MIRT2041553	hsa-miR-3190	CLIP-seq
MIRT2041554	hsa-miR-3194-3p	CLIP-seq
MIRT2041555	hsa-miR-3202	CLIP-seq
MIRT2041556	hsa-miR-328	CLIP-seq
MIRT2041557	hsa-miR-3618	CLIP-seq
MIRT1146174	hsa-miR-4251	CLIP-seq
MIRT1146179	hsa-miR-4319	CLIP-seq
MIRT1146181	hsa-miR-4324	CLIP-seq
MIRT2041558	hsa-miR-4491	CLIP-seq
MIRT2041559	hsa-miR-4533	CLIP-seq
MIRT1146186	hsa-miR-455-5p	CLIP-seq
MIRT2041560	hsa-miR-4639-3p	CLIP-seq
MIRT2041561	hsa-miR-4657	CLIP-seq
MIRT1146188	hsa-miR-4668-3p	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2041563	hsa-miR-4728-3p	CLIP-seq
MIRT1146189	hsa-miR-4732-3p	CLIP-seq
MIRT1146191	hsa-miR-4786-3p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT2041565	hsa-miR-493	CLIP-seq
MIRT1146194	hsa-miR-513a-3p	CLIP-seq
MIRT1146195	hsa-miR-520d-5p	CLIP-seq
MIRT1146196	hsa-miR-524-5p	CLIP-seq
MIRT1146199	hsa-miR-568	CLIP-seq
MIRT1146200	hsa-miR-570	CLIP-seq
MIRT2041566	hsa-miR-576-3p	CLIP-seq
MIRT1146201	hsa-miR-605	CLIP-seq
MIRT1146203	hsa-miR-670	CLIP-seq
MIRT1146205	hsa-miR-765	CLIP-seq
MIRT1146206	hsa-miR-876-5p	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT1146138	hsa-miR-128	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT1146142	hsa-miR-199a-5p	CLIP-seq
MIRT1146143	hsa-miR-199b-5p	CLIP-seq
MIRT2271158	hsa-miR-200b	CLIP-seq
MIRT2271159	hsa-miR-200c	CLIP-seq
MIRT1146145	hsa-miR-23a	CLIP-seq
MIRT1146146	hsa-miR-23b	CLIP-seq
MIRT1146147	hsa-miR-23c	CLIP-seq
MIRT1146152	hsa-miR-27a	CLIP-seq
MIRT1146153	hsa-miR-27b	CLIP-seq
MIRT2041552	hsa-miR-3189-5p	CLIP-seq
MIRT2271160	hsa-miR-3200-5p	CLIP-seq
MIRT2041556	hsa-miR-328	CLIP-seq
MIRT2271161	hsa-miR-3612	CLIP-seq
MIRT1146169	hsa-miR-3688-3p	CLIP-seq
MIRT1146176	hsa-miR-4277	CLIP-seq
MIRT2271162	hsa-miR-429	CLIP-seq
MIRT1146178	hsa-miR-4302	CLIP-seq
MIRT2271163	hsa-miR-4303	CLIP-seq
MIRT2271164	hsa-miR-4426	CLIP-seq
MIRT2271165	hsa-miR-4432	CLIP-seq
MIRT2271166	hsa-miR-4495	CLIP-seq
MIRT2271167	hsa-miR-4647	CLIP-seq
MIRT1146187	hsa-miR-4649-3p	CLIP-seq
MIRT2271168	hsa-miR-4662b	CLIP-seq
MIRT2271169	hsa-miR-4682	CLIP-seq
MIRT2271170	hsa-miR-4695-5p	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2271171	hsa-miR-4799-5p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT1146194	hsa-miR-513a-3p	CLIP-seq
MIRT1146197	hsa-miR-548g	CLIP-seq
MIRT2271172	hsa-miR-548u	CLIP-seq
MIRT1146199	hsa-miR-568	CLIP-seq
MIRT1146202	hsa-miR-642a	CLIP-seq
MIRT2271173	hsa-miR-650	CLIP-seq
MIRT1146205	hsa-miR-765	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT2271158	hsa-miR-200b	CLIP-seq
MIRT2271159	hsa-miR-200c	CLIP-seq
MIRT2271162	hsa-miR-429	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2271171	hsa-miR-4799-5p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT2041547	hsa-miR-1276	CLIP-seq
MIRT2041548	hsa-miR-1283	CLIP-seq
MIRT2041550	hsa-miR-2277-3p	CLIP-seq
MIRT2041553	hsa-miR-3190	CLIP-seq
MIRT2041554	hsa-miR-3194-3p	CLIP-seq
MIRT2041555	hsa-miR-3202	CLIP-seq
MIRT2041557	hsa-miR-3618	CLIP-seq
MIRT2041558	hsa-miR-4491	CLIP-seq
MIRT2041559	hsa-miR-4533	CLIP-seq
MIRT2041561	hsa-miR-4657	CLIP-seq
MIRT2041565	hsa-miR-493	CLIP-seq
MIRT1146195	hsa-miR-520d-5p	CLIP-seq
MIRT1146196	hsa-miR-524-5p	CLIP-seq
MIRT2041566	hsa-miR-576-3p	CLIP-seq

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	23327923, 24286120, 28609714, 29513927, 33961781
GO:0005525	Function	GTP binding	IDA	24286120
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	24286120, 28471450
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	24286120
GO:0005764	Component	Lysosome	IDA	24286120
GO:0005856	Component	Cytoskeleton	IDA	24286120
GO:0006952	Process	Defense response	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	IMP	26599367, 28471450, 28609714
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0030218	Process	Erythrocyte differentiation	IMP	23327923
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	28471450
GO:0034121	Process	Regulation of toll-like receptor signaling pathway	IEA
GO:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	IEA
GO:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	IMP	26599367
GO:0034137	Process	Positive regulation of toll-like receptor 2 signaling pathway	IEA
GO:0034137	Process	Positive regulation of toll-like receptor 2 signaling pathway	IMP	26599367, 28471450
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IMP	28609714
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IMP	28609714
GO:0043030	Process	Regulation of macrophage activation	IMP	28471450
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	28471450, 28609714
GO:0046330	Process	Positive regulation of JNK cascade	IMP	28471450
GO:0050728	Process	Negative regulation of inflammatory response	IMP	29168081
GO:0051721	Function	Protein phosphatase 2A binding	IDA	28609714
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	29168081
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	23327923
GO:1900181	Process	Negative regulation of protein localization to nucleus	IMP	28609714
GO:1900745	Process	Positive regulation of p38MAPK cascade	IMP	28471450

MIM	HGNC	e!Ensembl
605352	16982	ENSG00000147324

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		Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas (PubMed:9973190). Expressed in red blood cells (at protein level) (PubMed:23327923). {ECO:0000269|PubMed:23327923, ECO:0000269|PubMed:9973190}.

Sequence

MAGMDSGNLKTARLWRDAALRARKLRSNLRQLTLTAAGACPGAGADALESPASPQLVLPA
NLGDIEALNLGNNGLEEVPEGLGSALGSLRVLVLRRNRFARLPPAVAELGHHLTELDVSH
NRLTALGAEVVSALRELRKLNLSHNQLPALPAQLGALAHLEELDVSFNRLAHLPDSLSCL
SRLRTLDVDHNQLTAFPRQLLQLVALEELDVSSNRLRGLPEDISALRALKILWLSGAELG
TLPAGFCELASLESLMLDNNGLQALPAQFSCLQRLKMLNLSSNLFEEFPAALLPLAGLEE
LYLSRNQLTSVPSLISGLGRLLTLWLDNNRIRYLPDSIVELTGLEELVLQGNQIAVLPDH
FGQLSRVGLWKIKDNPLIQPPYEVCMKGIPYIAAYQKELAHSQPAVQPRLKLLLMGHKAA
GKTLLRHCLTEERVEGCPGGGDKEKCYPPSPPPVSKGIEVTSWTADASRGLRFIVYDLAG
DESYEVIQPFFLSPGALYVLVVNLATYEPRHFPTTVGSFLHRVGARVPHAVVCIVGTHAD
LCGERELEEKCLDIHRQIALQEKHDAEGLSRLAKVVDEALARDFELRSASPHAAYYGVSD
KNLRRRKAHFQYLLNHRLQILSPVLPVSCRDPRHLRRLRDKLLSVAEHREIFPNLHRVLP
RSWQVLEELHFQPPQAQRLWLSWWDSARLGLQAGLTEDRLQSALSYLHESGKLLYFEDSP
ALKEHVFHNLTRLIDILNVFFQRDPSLLLHKLLLGTSGEGKAEGESSPPMARSTPSQELL
RATQLHQYVEGFLLHGLLPAHVIRLLLKPHVQAQQDLQLLLELLEKMGLCYCLNKPKGKP
LNGSTAWYKFPCYVQNEVPHAEAWINGTNLAGQSFVAEQLQIEYSFPFTFPLGLFARYSV
QINSHVVHRSDGKFQIFAYRGKVPVVVSYRPARGVLQPDTLSIASHASLPNIWTAWQAIT
PLVEELNVLLQEWPGLHYTVHILCSKCLKRGSPNPHAFPGELLSQPRPEGVAEIICPKNG
SERVNVALVYPPTPTVISPCSKKNVGEKHRNQ

Sequence length

1052

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS
Otosclerosis	Otosclerosis	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Squamous Cell	Associate	19047905
Colorectal Neoplasms	Associate	23045723
Histiocytoma Malignant Fibrous	Associate	23327923
Lupus Erythematosus Systemic	Associate	28289186
Lymphoma B Cell	Associate	26819451, 37906510
Neoplasms	Inhibit	17229543
Neoplasms Adipose Tissue	Associate	34872092
Obesity	Associate	36297114
Stomach Neoplasms	Associate	17229543

MFHAS1 (multifunctional ROCO family signaling regulator 1)