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Aliases for MFHAS1 Gene

Aliases for MFHAS1 Gene

  • Malignant Fibrous Histiocytoma Amplified Sequence 1 2 3
  • MASL1 3 4 6
  • 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
  • MFH-Amplified Sequences With Leucine-Rich Tandem Repeats 1 3
  • Malignant Fibrous Histiocytoma-Amplified Sequence 1 3
  • LRRC65 3

External Ids for MFHAS1 Gene

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 fibrous histiocytoma and malignant fibroxanthoma. An important paralog of this gene is LRRC8D.

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

Genomics for MFHAS1 Gene

Genomic Location for MFHAS1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MFHAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFHAS1 Gene

Regulatory Elements 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

Proteomics data for MFHAS1 Gene at MOPED

Post-translational modifications for MFHAS1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr696

Other Protein References for MFHAS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MFHAS1 Gene

Domains for MFHAS1 Gene

Protein Domains for MFHAS1 Gene

UniProtKB/Swiss-Prot:

MFHA1_HUMAN
Domain:
  • Contains 1 Roc domain.:
    • Q9Y4C4
Similarity:
  • Contains 13 LRR (leucine-rich) repeats.:
    • Q9Y4C4
genes like me logo Genes that share domains with MFHAS1: view

No data available for Gene Families 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
genes like me logo Genes that share ontologies with MFHAS1: view

Phenotypes for MFHAS1 Gene

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

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

Localization for MFHAS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFHAS1 Gene COMPARTMENTS Subcellular localization image for MFHAS1 gene
Compartment Confidence
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MFHAS1 Gene

Pathways for MFHAS1 Gene

SuperPathways for MFHAS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MFHAS1 Gene

None

No data available for Pathways by source for MFHAS1 Gene

Transcripts for MFHAS1 Gene

mRNA/cDNA for MFHAS1 Gene

Unigene Clusters for MFHAS1 Gene

Malignant fibrous histiocytoma amplified sequence 1:
Representative Sequences:

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 for MFHAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MFHAS1 Gene

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.
genes like me logo Genes that share expressions with MFHAS1: view

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 36
  • 99.14 (n)
  • 99.14 (a)
MFHAS1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFHAS1 36
  • 88.91 (n)
  • 94.51 (a)
MFHAS1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFHAS1 36
  • 90.8 (n)
  • 93.86 (a)
MFHAS1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfhas1 36
  • 88.84 (n)
  • 94.37 (a)
Mfhas1 16
Mfhas1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFHAS1 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 18 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Mfhas1 36
  • 88.34 (n)
  • 94.51 (a)
chicken
(Gallus gallus)
Aves LOC101750338 36
  • 77.05 (n)
  • 81.49 (a)
MFHAS1 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFHAS1 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20538 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mfhas1 36
  • 65.69 (n)
  • 72.15 (a)
zebrafish
(Danio rerio)
Actinopterygii mfhas1 36
  • 63.69 (n)
  • 67.78 (a)
mfhas1 37
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sur-8 37
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea soc-2 37
  • 18 (a)
OneToMany
Species with no ortholog for MFHAS1:
  • 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

Selected 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 MAF
rs2427 -- 8,783,615(+) CAATT(C/T)CAGGA nc-transcript-variant
rs2428 -- 8,783,635(+) GATAC(C/T)ACAAG nc-transcript-variant
rs11906 -- 8,783,749(-) CCCAC(C/T)GAGGC nc-transcript-variant
rs13031 -- 8,784,082(-) CTTTG(G/T)GTGAC downstream-variant-500B, nc-transcript-variant
rs189133 -- 8,857,008(+) aaaaa(A/G)GAGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv890331 CNV Loss 21882294
nsv831228 CNV Loss 17160897
nsv890338 CNV Gain 21882294
esv8249 CNV Loss 19470904
esv2678982 CNV Deletion 23128226
esv2534895 CNV Deletion 19546169
dgv2197e1 CNV Complex 17122850
nsv818595 CNV Gain 17921354
esv23993 CNV Loss 19812545

Relevant External Links for MFHAS1 Gene

HapMap Linkage Disequilibrium report
MFHAS1

Disorders for MFHAS1 Gene

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}.

(1) University of Copenhagen DISEASES for MFHAS1 Gene

Relevant External Links for MFHAS1

Genetic Association Database (GAD)
MFHAS1
Human Genome Epidemiology (HuGE) Navigator
MFHAS1
genes like me logo Genes that share disorders with MFHAS1: view

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 23
  2. MASL1, a candidate oncogene found in amplification at 8p23.1, is translocated in immunoblastic B-cell lymphoma cell line OCI-LY8. (PMID: 14691450) Tagawa H. … Seto M. (Oncogene 2004) 3 4
  3. 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 49
  4. 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 49
  5. 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 49

Products for MFHAS1 Gene

Sources for MFHAS1 Gene

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