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Aliases for MFHAS1 Gene

Aliases for MFHAS1 Gene

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

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 Histiocytoma and Fibrous Histiocytoma. An important paralog of this gene is SCRIB.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFHAS1 Gene

Genomics for MFHAS1 Gene

Regulatory Elements for MFHAS1 Gene

Enhancers for MFHAS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G008779 1.3 FANTOM5 Ensembl ENCODE 30.5 +113.5 113530 1.8 CTCF ZMYM3 MAX RAD21 YY1 ZNF143 SMC3 DEK ZNF654 CEBPB FAM86B3P MFHAS1 ENSG00000254367 RNU6-682P CLDN23 PPP1R3B GC08P008703
GH08G008804 1.3 Ensembl ENCODE 22.1 +87.7 87661 2.8 PKNOX1 FOXA2 ATF1 ARNT ARID4B SIN3A DMAP1 YY1 TCF12 ZNF766 FAM86B3P MFHAS1 RNU6-682P ENSG00000207244 RPL10P19 ENSG00000254153 ENSG00000254367
GH08G008782 0.9 ENCODE 26.7 +110.4 110375 2.1 HDGF PKNOX1 ZNF133 BMI1 GATA2 ZNF143 ETV6 RELB CREM IKZF2 FAM86B3P MFHAS1 RNU6-682P ENSG00000207244 RPL10P19 ERI1 ENSG00000254367
GH08G008763 0.8 ENCODE 26.8 +128.8 128829 1.7 FEZF1 YBX1 ZNF2 FOS IKZF2 JUNB TSHZ1 ZNF488 ZEB2 ZNF843 MFHAS1 FAM86B3P CLDN23 RNU6-682P ENSG00000254367 GC08P008703
GH08G008751 1.5 FANTOM5 Ensembl ENCODE 14.1 +140.3 140269 2.9 TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A ZBTB40 FOS RELB ETV6 IKZF2 FAM86B3P MFHAS1 CLDN23 ENSG00000207244 RPL10P19 RNU7-55P PRAG1 ENSG00000254367 GC08P008703
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFHAS1 on UCSC Golden Path with GeneCards custom track

Promoters for MFHAS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000220826 445 2001 ARID4B SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF143 ZNF207 DEK MXD4

Genomic Location for MFHAS1 Gene

Chromosome:
8
Start:
8,783,354 bp from pter
End:
8,893,645 bp from pter
Size:
110,292 bases
Orientation:
Minus strand

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 StructureGene Density

RefSeq DNA sequence for MFHAS1 Gene

Proteins for MFHAS1 Gene

  • 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:
    No Data Available
    Miscellaneous:
    • Tumorigenic in nude mice.

neXtProt entry for MFHAS1 Gene

Post-translational modifications for MFHAS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for MFHAS1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MFHAS1: view

No data available for UniProtKB/Swiss-Prot for MFHAS1 Gene

Function for MFHAS1 Gene

Gene Ontology (GO) - Molecular Function for MFHAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24286120
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with MFHAS1: view
genes like me logo Genes that share phenotypes with MFHAS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for MFHAS1 Gene

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
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MFHAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 NOT plasma membrane IBA --
genes like me logo Genes that share ontologies with MFHAS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MFHAS1 Gene

Pathways & Interactions for MFHAS1 Gene

SuperPathways for MFHAS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MFHAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA --
GO:0007264 small GTPase mediated signal transduction IEA --
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

No Compound Related Data Available

Transcripts for MFHAS1 Gene

Unigene Clusters for MFHAS1 Gene

Malignant fibrous histiocytoma amplified sequence 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
MFHAS1

Expression for MFHAS1 Gene

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



Protein tissue co-expression partners for MFHAS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MFHAS1 Gene:

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.

Evidence on tissue expression from TISSUES for MFHAS1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MFHAS1: view

Primer Products

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 34 35
  • 99.14 (n)
dog
(Canis familiaris)
Mammalia MFHAS1 34 35
  • 90.8 (n)
cow
(Bos Taurus)
Mammalia MFHAS1 34 35
  • 88.91 (n)
mouse
(Mus musculus)
Mammalia Mfhas1 34 16 35
  • 88.84 (n)
rat
(Rattus norvegicus)
Mammalia Mfhas1 34
  • 88.34 (n)
oppossum
(Monodelphis domestica)
Mammalia MFHAS1 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 18 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MFHAS1 35
  • 78 (a)
OneToOne
LOC101750338 34
  • 77.05 (n)
lizard
(Anolis carolinensis)
Reptilia MFHAS1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfhas1 34
  • 65.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20538 34
zebrafish
(Danio rerio)
Actinopterygii mfhas1 34 35
  • 63.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sur-8 35
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea soc-2 35
  • 18 (a)
OneToMany
Species where no ortholog for MFHAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for MFHAS1 Gene

Paralogs for MFHAS1 Gene

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

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

Variants for MFHAS1 Gene

Sequence variations from dbSNP and Humsavar for MFHAS1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000001909 -- 8,880,038(+) ACGGA(A/G)CTCGT intron-variant
rs1000008271 -- 8,886,028(+) TCACT(A/C)AACCC intron-variant
rs1000013891 -- 8,853,188(+) ACACC(A/G)ACTCA intron-variant
rs1000079673 -- 8,782,914(+) CAATA(C/T)GGAGT downstream-variant-500B
rs1000129274 -- 8,785,635(+) TTTCA(C/T)ATTTA nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links for MFHAS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFHAS1

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

Disorders for MFHAS1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MFHAS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
histiocytoma
  • cutaneous fibrous histiocytoma
fibrous histiocytoma
  • benign fibrous histiocytoma
malignant fibroxanthoma
  • fibrous histiocytoma, malignant
- 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}.

Relevant External Links for MFHAS1

Genetic Association Database (GAD)
MFHAS1
Human Genome Epidemiology (HuGE) Navigator
MFHAS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFHAS1
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 Res. 1999) 2 3 4 22 64
  2. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. (PMID: 22210626) Mead S. … Collinge J. (Hum. Mol. Genet. 2012) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  5. Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. (PMID: 18846501) Sonuga-Barke E.J. … Faraone S.V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 46 64

Products for MFHAS1 Gene

Sources for MFHAS1 Gene

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