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    Mfhas1 malignant fibrous histiocytoma amplified sequence 1 [ Mus musculus (house mouse) ]

    Gene ID: 52065, updated on 5-Mar-2024

    Summary

    Official Symbol
    Mfhas1provided by MGI
    Official Full Name
    malignant fibrous histiocytoma amplified sequence 1provided by MGI
    Primary source
    MGI:MGI:1098644
    See related
    Ensembl:ENSMUSG00000070056 AllianceGenome:MGI:1098644
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D8Ertd91e; 2310066G09Rik
    Summary
    Predicted to enable GTP binding activity; protein phosphatase 2A binding activity; and ubiquitin protein ligase binding activity. Involved in inflammatory response; innate immune response; and regulation of toll-like receptor 2 signaling pathway. Predicted to be located in cytoplasm. Is expressed in central nervous system; dorsal root ganglion; neural retina; and vibrissa. Orthologous to human MFHAS1 (multifunctional ROCO family signaling regulator 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon adult (RPKM 12.2), lung adult (RPKM 10.8) and 27 other tissues See more
    Orthologs
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    Genomic context

    Location:
    8 A4; 8 21.16 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (36054922..36146603)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (35587789..35679449)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9725 Neighboring gene predicted gene, 51568 Neighboring gene predicted gene, 39162 Neighboring gene STARR-seq mESC enhancer starr_21187 Neighboring gene predicted gene, 16793 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:36741921-36742122 Neighboring gene RIKEN cDNA 1700015I17 gene Neighboring gene STARR-positive B cell enhancer ABC_E3773 Neighboring gene predicted gene, 35021 Neighboring gene predicted gene, 40492

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein phosphatase 2A binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in defense response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in erythrocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of protein dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of protein localization to nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of toll-like receptor 2 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of toll-like receptor 2 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of toll-like receptor 4 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of JNK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of p38MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of toll-like receptor 2 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of toll-like receptor 2 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of macrophage activation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of toll-like receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    malignant fibrous histiocytoma-amplified sequence 1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081279.2NP_001074748.1  malignant fibrous histiocytoma-amplified sequence 1 homolog isoform 1

      See identical proteins and their annotated locations for NP_001074748.1

      Status: VALIDATED

      Source sequence(s)
      AC129082, AC129211
      Consensus CDS
      CCDS40319.1
      UniProtKB/Swiss-Prot
      Q3TAN2, Q3V1N1, Q8C4N5
      Related
      ENSMUSP00000044135.6, ENSMUST00000037666.6
      Conserved Domains (5) summary
      cd00116
      Location:107350
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:109132
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:247304
      LRR_8; Leucine rich repeat
      pfam16095
      Location:656902
      COR; C-terminal of Roc, COR, domain
      cl21455
      Location:405561
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001364259.1NP_001351188.1  malignant fibrous histiocytoma-amplified sequence 1 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC129082, AC129211
      Conserved Domains (4) summary
      COG4886
      Location:42338
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:109132
      LRR_RI; leucine-rich repeat [structural motif]
      pfam16095
      Location:656902
      COR; C-terminal of Roc, COR, domain
      cl21455
      Location:405561
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. NR_157105.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC129082, AC129211

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      36054922..36146603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004934862.1 RNA Sequence