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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
  • LRRC65 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 LRRC30.

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

Regulatory Elements for MFHAS1 Gene

Promoters for MFHAS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MFHAS1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MFHAS1 Gene at MOPED

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

Suggested Antigen Peptide Sequences for MFHAS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4C4

UniProtKB/Swiss-Prot:

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MFHAS1

CRISPR 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
Jensen Localization Image for MFHAS1 Gene COMPARTMENTS Subcellular localization image for MFHAS1 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MFHAS1 Gene

Pathways & Interactions 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 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:

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

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



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 expression patterns with MFHAS1: view

Protein tissue co-expression partners for MFHAS1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia MFHAS1 35
  • 88.91 (n)
  • 94.51 (a)
MFHAS1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFHAS1 35
  • 90.8 (n)
  • 93.86 (a)
MFHAS1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfhas1 35
  • 88.84 (n)
  • 94.37 (a)
Mfhas1 16
Mfhas1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MFHAS1 35
  • 99.14 (n)
  • 99.14 (a)
MFHAS1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfhas1 35
  • 88.34 (n)
  • 94.51 (a)
oppossum
(Monodelphis domestica)
Mammalia MFHAS1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 18 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC101750338 35
  • 77.05 (n)
  • 81.49 (a)
MFHAS1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFHAS1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfhas1 35
  • 65.69 (n)
  • 72.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20538 35
zebrafish
(Danio rerio)
Actinopterygii mfhas1 35
  • 63.69 (n)
  • 67.78 (a)
mfhas1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sur-8 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea soc-2 36
  • 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

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
rs34984230 - 8,892,572(+) ATCCA(C/G)CTCCT nc-transcript-variant, reference, missense
rs429433 - 8,890,384(-) TCCAC(C/G/T)TGGGT nc-transcript-variant, reference, missense
rs11906 -- 8,783,749(-) CCCAC(C/T)GAGGC nc-transcript-variant
rs13031 -- 8,784,082(-) CTTTG(G/T)GTGAC nc-transcript-variant, downstream-variant-500B
rs332017 -- 8,895,077(+) GTTCA(A/G)TTGGT upstream-variant-2KB

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

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

HapMap Linkage Disequilibrium report
MFHAS1

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

Disorders for MFHAS1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
histiocytoma
  • cutaneous fibrous histiocytoma
fibrous histiocytoma
  • benign fibrous histiocytoma
- 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 23 67
  2. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 3
  3. GTP binding controls complex formation by the human ROCO protein MASL1. (PMID: 24286120) Dihanich S. … Lewis P.A. (FEBS J. 2014) 3
  4. MASL1 induces erythroid differentiation in human erythropoietin-dependent CD34+ cells through the Raf/MEK/ERK pathway. (PMID: 23327923) Kumkhaek C. … Rodgers G.P. (Blood 2013) 3
  5. MASL1: a neglected ROCO protein. (PMID: 22988871) Dihanich S. (Biochem. Soc. Trans. 2012) 3

Products for MFHAS1 Gene

Sources for MFHAS1 Gene

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