MFHAS1 Gene (Protein Coding)

Malignant Fibrous Histiocytoma Amplified Sequence 1

GC08M008783
GIFtS:
34
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 cycl... See more...

Aliases for MFHAS1 Gene

Aliases for MFHAS1 Gene

  • Malignant Fibrous Histiocytoma Amplified Sequence 1 2 3 5
  • MASL1 2 3 4
  • Malignant Fibrous Histiocytoma-Amplified Sequences With Leucine-Rich Tandem Repeats 1 2 3
  • Malignant Fibrous Histiocytoma-Amplified Sequence With Leucine-Rich Tandem Repeats 1 3 4
  • Malignant Fibrous Histiocytoma-Amplified Sequence 1 3 4
  • Leucine Rich Repeat Containing 65 2 3
  • LRRC65 2 3
  • ROCO4 2 3
  • MFH-Amplified Sequences With Leucine-Rich Tandem Repeats 1 3
  • MFHAS1 5

External Ids for MFHAS1 Gene

Previous GeneCards Identifiers for MFHAS1 Gene

  • GC08M008564
  • GC08M008680
  • GC08M007566

Summaries for MFHAS1 Gene

Entrez Gene Summary for MFHAS1 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 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]

GeneCards Summary for MFHAS1 Gene

MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1) is a Protein Coding gene. Diseases associated with MFHAS1 include Malignant Fibrous Histiocytoma and Fibrous Histiocytoma. An important paralog of this gene is LRRD1.

UniProtKB/Swiss-Prot Summary for MFHAS1 Gene

  • 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:28609714). Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor (PubMed:28609714). Both inhibits and activates the TLR2-dependent signaling pathway (PubMed:26599367). Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway (PubMed:29168081). Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway (PubMed:23327923).

Additional gene information for MFHAS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFHAS1 Gene

Genomics for MFHAS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MFHAS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFHAS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFHAS1

Top Transcription factor binding sites by QIAGEN in the MFHAS1 gene promoter:
  • c-Myb
  • GR
  • GR-alpha
  • GR-beta
  • HNF-4alpha1
  • HSF2
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • YY1

Genomic Locations for MFHAS1 Gene

Latest Assembly
chr8:8,783,354-8,893,630
(GRCh38/hg38)
Size:
110,277 bases
Orientation:
Minus strand

Previous Assembly
chr8:8,640,864-8,751,140
(GRCh37/hg19 by Entrez Gene)
Size:
110,277 bases
Orientation:
Minus strand

chr8:8,640,864-8,751,155
(GRCh37/hg19 by Ensembl)
Size:
110,292 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):4,458,341-4,568,641 (+)

Genomic View for MFHAS1 Gene

Genes around MFHAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFHAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFHAS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MFHAS1 Gene

Proteins for MFHAS1 Gene

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  • Protein details for MFHAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4C4-MFHA1_HUMAN
    Recommended name:
    Malignant fibrous histiocytoma-amplified sequence 1
    Protein Accession:
    Q9Y4C4
    Secondary Accessions:
    • Q96CI0

    Protein attributes for MFHAS1 Gene

    Size:
    1052 amino acids
    Molecular mass:
    116950 Da
    Quaternary structure:
    • Interacts with RAF1 (PubMed:23327923). Interacts with HSPD1 (PubMed:24286120). Interacts with PPP2CA; retains PPP2CA into the cytoplasm and excludes it from the nucleus (PubMed:28609714). Interacts with PPP2R2A; the interaction is direct (PubMed:28609714). Interacts with PJA2 (PubMed:28471450).

neXtProt entry for MFHAS1 Gene

Protein Expression for MFHAS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MFHAS1 Gene

  • Ubiquitinated. Ubiquitination by PJA2 does not lead MFHAS1 to proteasomal degradation but positively regulates its function in polarization of macrophages.
  • Glycosylation at Thr696
  • Modification sites at PhosphoSitePlus

Other Protein References for MFHAS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MFHAS1 Gene

Domains & Families for MFHAS1 Gene

Gene Families for MFHAS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MFHAS1 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature

Suggested Antigen Peptide Sequences for MFHAS1 Gene

GenScript: Design optimal peptide antigens:
  • Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1 (MFHA1_HUMAN)
genes like me logo Genes that share domains with MFHAS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MFHAS1 Gene

Function for MFHAS1 Gene

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  6. Cell Lines for research

Molecular function for MFHAS1 Gene

UniProtKB/Swiss-Prot 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:28609714). Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor (PubMed:28609714). Both inhibits and activates the TLR2-dependent signaling pathway (PubMed:26599367). Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway (PubMed:29168081). Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway (PubMed:23327923).
UniProtKB/Swiss-Prot Induction:
Up-regulated during erythroid cells differentiation (at protein level) (PubMed:23327923). Up-regulated upon Toll-like receptor TLR2 stimulation (PubMed:26599367). Up-regulated in macrophages upon M. tuberculosis infection (PubMed:20616063). Up-regulated upon sepsis (PubMed:26599367). Up-regulated by glucose (PubMed:29168081).

Phenotypes From GWAS Catalog for MFHAS1 Gene

Gene Ontology (GO) - Molecular Function for MFHAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 23327923
GO:0005525 GTP binding IEA,IDA 24286120
GO:0031625 ubiquitin protein ligase binding IPI 28471450
GO:0051721 protein phosphatase 2A binding IDA 28609714
genes like me logo Genes that share ontologies with MFHAS1: view
genes like me logo Genes that share phenotypes with MFHAS1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFHAS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFHAS1 Gene

Localization for MFHAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFHAS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFHAS1 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MFHAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 24286120
GO:0005739 NOT mitochondrion IDA 24286120
GO:0005764 NOT lysosome IDA 24286120
GO:0005856 NOT cytoskeleton IDA 24286120
genes like me logo Genes that share ontologies with MFHAS1: view

Pathways & Interactions for MFHAS1 Gene

PathCards logo

SuperPathways for MFHAS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MFHAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006952 defense response IEA --
GO:0006954 inflammatory response IMP 26599367
GO:0009968 negative regulation of signal transduction IEA --
GO:0030218 erythrocyte differentiation IMP 23327923
genes like me logo Genes that share ontologies with MFHAS1: view

No data available for Pathways by source and SIGNOR curated interactions for MFHAS1 Gene

Drugs & Compounds for MFHAS1 Gene

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No Compound Related Data Available

Transcripts for MFHAS1 Gene

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mRNA/cDNA for MFHAS1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFHAS1

Alternative Splicing Database (ASD) splice patterns (SP) for MFHAS1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: - - -
SP3: -

Relevant External Links for MFHAS1 Gene

GeneLoc Exon Structure for
MFHAS1

Expression for MFHAS1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MFHAS1 Gene

mRNA expression in normal human tissues for MFHAS1 Gene
mRNA expression by GTEx for MFHAS1 GenemRNA expression by BioGPS for MFHAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MFHAS1 Gene

This gene is overexpressed in Heart (40.5) and Plasma (19.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MFHAS1 Gene



Protein tissue co-expression partners for MFHAS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFHAS1

SOURCE GeneReport for Unigene cluster for MFHAS1 Gene:

Hs.379414

mRNA Expression by UniProt/SwissProt for MFHAS1 Gene:

Q9Y4C4-MFHA1_HUMAN
Tissue specificity: Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas (PubMed:9973190). Expressed in red blood cells (at protein level) (PubMed:23327923).

Evidence on tissue expression from TISSUES for MFHAS1 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with MFHAS1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFHAS1 Gene

Orthologs for MFHAS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFHAS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MFHAS1 29 30
  • 99.14 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MFHAS1 29 30
  • 90.8 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MFHAS1 29 30
  • 88.91 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mfhas1 29 16 30
  • 88.84 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mfhas1 29
  • 88.34 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MFHAS1 30
  • 80 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 18 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves MFHAS1 30
  • 78 (a)
 OneToOne
LOC101750338 29
  • 77.05 (n)
Lizard
(Anolis carolinensis)
 Reptilia MFHAS1 30
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mfhas1 29
  • 65.69 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.20538 29
Zebrafish
(Danio rerio)
 Actinopterygii mfhas1 29 30
  • 63.69 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Sur-8 30
  • 17 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea soc-2 30
  • 18 (a)
 OneToMany
Species where no ortholog for MFHAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MFHAS1 Gene

ENSEMBL:
Gene Tree for MFHAS1 (if available)
TreeFam:
Gene Tree for MFHAS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFHAS1: view image
Alliance of Genome Resources:
Additional Orthologs for MFHAS1

Paralogs for MFHAS1 Gene

Paralogs for MFHAS1 Gene

(1) SIMAP similar genes for MFHAS1 Gene using alignment to 2 proteins:

  • MFHA1_HUMAN
  • L8E7L4_HUMAN
genes like me logo Genes that share paralogs with MFHAS1: view

Variants for MFHAS1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFHAS1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs115597655 Benign: not provided 8,892,823(-) G/C
NM_004225.3(MFHAS1):c.236C>G (p.Pro79Arg) 		MISSENSE
rs141278509 Benign: not provided 8,892,735(-) C/T
NM_004225.3(MFHAS1):c.324G>A (p.Glu108=) 		SYNONYMOUS
rs374574651 Benign: not provided 8,892,426(-) C/T
NM_004225.3(MFHAS1):c.633G>A (p.Val211=) 		SYNONYMOUS
rs571544041 Likely Benign: not provided 8,891,127(-) T/G
NM_004225.3(MFHAS1):c.1932A>C (p.Ser644=) 		SYNONYMOUS
rs770759826 Likely Benign: not provided 8,892,708(-) G/A
NM_004225.3(MFHAS1):c.351C>T (p.Asp117=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MFHAS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MFHAS1 Gene

Variant ID Type Subtype PubMed ID
dgv11941n54 CNV gain+loss 21841781
dgv11942n54 CNV gain 21841781
dgv11943n54 CNV loss 21841781
dgv1370e214 CNV gain 21293372
dgv2038e212 CNV loss 25503493
dgv3768n106 CNV deletion 24896259
dgv7006n100 CNV gain 25217958
esv23993 CNV loss 19812545
esv2534895 CNV deletion 19546169
esv2678982 CNV deletion 23128226
esv2759591 CNV gain 17122850
esv3543029 CNV deletion 23714750
esv3572501 CNV loss 25503493
esv3576524 CNV gain 25503493
esv3616154 CNV loss 21293372
esv8249 CNV loss 19470904
nsv1015437 CNV gain 25217958
nsv1018828 CNV loss 25217958
nsv1023221 CNV loss 25217958
nsv1076054 CNV deletion 25765185
nsv610189 CNV loss 21841781
nsv610190 CNV loss 21841781
nsv610204 CNV gain 21841781
nsv818595 CNV gain 17921354
nsv831228 CNV loss 17160897
nsv972581 CNV deletion 23825009

Variation tolerance for MFHAS1 Gene

Residual Variation Intolerance Score: 1.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFHAS1 Gene

Human Gene Mutation Database (HGMD)
MFHAS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFHAS1
Leiden Open Variation Database (LOVD)
MFHAS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFHAS1 Gene

Disorders for MFHAS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MFHAS1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
malignant fibrous histiocytoma
  • fibroxanthosarcoma
fibrous histiocytoma
  • benign fibrous histiocytoma
pharynx squamous cell carcinoma
b-cell lymphoma
  • b-cell lymphocytic neoplasm
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MFHA1_HUMAN
  • Note=A chromosomal aberration involving MFHAS1 may be a cause of B-cell lymphoma. Translocation t(8;14)(p23.1;q21) with a cryptic exon named '14q21 element'. The resulting fusion protein named 'chimeric MASL1' is tumorigenic in nude mice. {ECO:0000269 PubMed:14691450}.

Additional Disease Information for MFHAS1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MFHAS1: view

No data available for Genatlas for MFHAS1 Gene

Publications for MFHAS1 Gene

  1. Identification of a novel gene, MASL1, within an amplicon at 8p23.1 detected in malignant fibrous histiocytomas by comparative genomic hybridization. (PMID: 9973190) Sakabe T … Inazawa J (Cancer research 1999) 2 3 4 22
  2. GTP binding controls complex formation by the human ROCO protein MASL1. (PMID: 24286120) Dihanich S … Lewis PA (The FEBS journal 2014) 2 3 4
  3. High Glucose Stimulates Expression of MFHAS1 to Mitigate Inflammation via Akt/HO-1 Pathway in Human Umbilical Vein Endothelial Cells. (PMID: 29168081) Wang HH … Miao CH (Inflammation 2018) 3 4
  4. Ubiquitylation of MFHAS1 by the ubiquitin ligase praja2 promotes M1 macrophage polarization by activating JNK and p38 pathways. (PMID: 28471450) Zhong J … Miao C (Cell death & disease 2017) 3 4
  5. MFHAS1 suppresses TLR4 signaling pathway via induction of PP2A C subunit cytoplasm translocation and inhibition of c-Jun dephosphorylation at Thr239. (PMID: 28609714) Shi Q … Miao C (Molecular immunology 2017) 3 4

ExternalLinks

View latest publications for MFHAS1 gene in Mastermind

Products for MFHAS1 Gene

Sources for MFHAS1 Gene