• Gene id: 9258

Gene Summary

• Gene Symbol: MFHAS1   Gene   UCSC   Ensembl
• Aliases: LRRC65, MASL1, ROCO4
• Gene name: malignant fibrous histiocytoma amplified sequence 1
• Alternate names: malignant fibrous histiocytoma-amplified sequence 1, MFH-amplified sequences with leucine-rich tandem repeats 1, leucine rich repeat containing 65, malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1, malignant fibrous histioc,
• Gene location: 8p23.1 (8893629: 8783353)     Exons: 5     NC_000008.11
• Gene summary(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 leu
• OMIM: 617548

Protein Summary

• Protein general information: Q9Y4C4  
  • Name: Malignant fibrous histiocytoma amplified sequence 1 (Malignant fibrous histiocytoma amplified sequence with leucine rich tandem repeats 1)
  • Length: 1052  
  • Mass: 116950
  • Tissue specificity: Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas (PubMed
• Sequence:

  MAGMDSGNLKTARLWRDAALRARKLRSNLRQLTLTAAGACPGAGADALESPASPQLVLPANLGDIEALNLGNNGL
  EEVPEGLGSALGSLRVLVLRRNRFARLPPAVAELGHHLTELDVSHNRLTALGAEVVSALRELRKLNLSHNQLPAL
  PAQLGALAHLEELDVSFNRLAHLPDSLSCLSRLRTLDVDHNQLTAFPRQLLQLVALEELDVSSNRLRGLPEDISA
  LRALKILWLSGAELGTLPAGFCELASLESLMLDNNGLQALPAQFSCLQRLKMLNLSSNLFEEFPAALLPLAGLEE
  LYLSRNQLTSVPSLISGLGRLLTLWLDNNRIRYLPDSIVELTGLEELVLQGNQIAVLPDHFGQLSRVGLWKIKDN
  PLIQPPYEVCMKGIPYIAAYQKELAHSQPAVQPRLKLLLMGHKAAGKTLLRHCLTEERVEGCPGGGDKEKCYPPS
  PPPVSKGIEVTSWTADASRGLRFIVYDLAGDESYEVIQPFFLSPGALYVLVVNLATYEPRHFPTTVGSFLHRVGA
  RVPHAVVCIVGTHADLCGERELEEKCLDIHRQIALQEKHDAEGLSRLAKVVDEALARDFELRSASPHAAYYGVSD
  KNLRRRKAHFQYLLNHRLQILSPVLPVSCRDPRHLRRLRDKLLSVAEHREIFPNLHRVLPRSWQVLEELHFQPPQ
  AQRLWLSWWDSARLGLQAGLTEDRLQSALSYLHESGKLLYFEDSPALKEHVFHNLTRLIDILNVFFQRDPSLLLH
  KLLLGTSGEGKAEGESSPPMARSTPSQELLRATQLHQYVEGFLLHGLLPAHVIRLLLKPHVQAQQDLQLLLELLE
  KMGLCYCLNKPKGKPLNGSTAWYKFPCYVQNEVPHAEAWINGTNLAGQSFVAEQLQIEYSFPFTFPLGLFARYSV
  QINSHVVHRSDGKFQIFAYRGKVPVVVSYRPARGVLQPDTLSIASHASLPNIWTAWQAITPLVEELNVLLQEWPG
  LHYTVHILCSKCLKRGSPNPHAFPGELLSQPRPEGVAEIICPKNGSERVNVALVYPPTPTVISPCSKKNVGEKHR
  NQ

• Structural information:
  • Protein Domains: (403..64-)
    (/note="Roc-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00758"-)
  • Interpro: IPR001611  IPR003591  IPR032675  IPR027417  IPR020859  
  • Prosite: PS51450 PS51424
  • STRING: ENSP00000276282
• Other Databases: GeneCards:  MFHAS1  Malacards:  MFHAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IDA	NOT|cellular component
GO:0005525	GTP binding	IDA	molecular function
GO:0005856	cytoskeleton	IDA	NOT|cellular component
GO:0005739	mitochondrion	IDA	NOT|cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051721	protein phosphatase 2A binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0030218	erythrocyte differentiation	IMP	biological process
GO:0035308	negative regulation of protein dephosphorylation	IMP	biological process
GO:1900181	negative regulation of protein localization to nucleus	IMP	biological process
GO:1900745	positive regulation of p38MAPK cascade	IMP	biological process
GO:0034137	positive regulation of toll-like receptor 2 signaling pathway	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0045087	innate immune response	IMP	biological process
GO:0045087	innate immune response	IMP	biological process
GO:0034137	positive regulation of toll-like receptor 2 signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034144	negative regulation of toll-like receptor 4 signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046330	positive regulation of JNK cascade	IMP	biological process
GO:0043030	regulation of macrophage activation	IMP	biological process
GO:0006954	inflammatory response	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0006954	inflammatory response	IMP	biological process
GO:0006954	inflammatory response	IMP	biological process
GO:0034136	negative regulation of toll-like receptor 2 signaling pathway	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006952	defense response	IEA	biological process
GO:0034137	positive regulation of toll-like receptor 2 signaling pathway	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0034121	regulation of toll-like receptor signaling pathway	IEA	biological process
GO:0034136	negative regulation of toll-like receptor 2 signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Fibrous histiocytoma	PMID:9973190
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq