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    MFHAS1 multifunctional ROCO family signaling regulator 1 [ Homo sapiens (human) ]

    Gene ID: 9258, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MFHAS1provided by HGNC
    Official Full Name
    multifunctional ROCO family signaling regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:16982
    See related
    Ensembl:ENSG00000147324 MIM:605352; AllianceGenome:HGNC:16982
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MASL1; ROCO4; LRRC65
    Summary
    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]
    Expression
    Ubiquitous expression in lung (RPKM 8.7), spleen (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFHAS1 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (8783354..8893630, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (10850500..10960846)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (8640864..8751140, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379225 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:8559273-8560240 Neighboring gene claudin 23 Neighboring gene NANOG hESC enhancer GRCh37_chr8:8594010-8594511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26976 Neighboring gene MPRA-validated peak6897 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:8679219-8679761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26979 Neighboring gene Sharpr-MPRA regulatory region 1187 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:8741828-8742802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:8747640-8748600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:8748601-8749560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:8749561-8750521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18904 Neighboring gene RNA, U6 small nuclear 682, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:8771372-8771981 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:8774498-8774763 Neighboring gene MRPS18C pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. MASL1, a candidate oncogene found in amplification at 8p23.1, is translocated in immunoblastic B-cell lymphoma cell line OCI-LY8. Tagawa H, et al. Oncogene, 2004 Apr 1. PMID 14691450
    2. MASL1: a neglected ROCO protein. Dihanich S. Biochem Soc Trans, 2012 Oct. PMID 22988871
    3. Silencing MFHAS1 Induces Pyroptosis via the JNK-activated NF-κB/Caspase1/ GSDMD Signal Axis in Breast Cancer. Jin Y, et al. Curr Pharm Des, 2023. PMID 37936452
    4. Identification of a novel gene, MASL1, within an amplicon at 8p23.1 detected in malignant fibrous histiocytomas by comparative genomic hybridization. Sakabe T, et al. Cancer Res, 1999 Feb 1. PMID 9973190
    5. High Glucose Stimulates Expression of MFHAS1 to Mitigate Inflammation via Akt/HO-1 Pathway in Human Umbilical Vein Endothelial Cells. Wang HH, et al. Inflammation, 2018 Mar. PMID 29168081

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing MFHAS1 Induces Pyroptosis via the JNK-activated NF-kappaB/Caspase1/ GSDMD Signal Axis in Breast Cancer.
      Title: Silencing MFHAS1 Induces Pyroptosis via the JNK-activated NF-κB/Caspase1/ GSDMD Signal Axis in Breast Cancer.
    2. MFHAS1 deadened high-glucose induced inflammation by activating AKT/HO-1 pathway
      Title: High Glucose Stimulates Expression of MFHAS1 to Mitigate Inflammation via Akt/HO-1 Pathway in Human Umbilical Vein Endothelial Cells.
    3. the results indicate that MFHAS1 suppresses TLR4 signaling pathway through induction of PP2A C subunit cytoplasm translocation and subsequent c-Jun degradation, leading finally to decrease AP-1 activity and cytokines expression.
      Title: MFHAS1 suppresses TLR4 signaling pathway via induction of PP2A C subunit cytoplasm translocation and inhibition of c-Jun dephosphorylation at Thr239.
    4. MASL1 expression is upregulated during primary human CD34+ cell erythroid differentiation and is an abundant protein in human red blood cells.
      Title: MASL1 induces erythroid differentiation in human erythropoietin-dependent CD34+ cells through the Raf/MEK/ERK pathway.
    5. aim of the review is to summarize the existing information on MASL1 and also to compile data that could be linked to MASL1 [review]
      Title: MASL1: a neglected ROCO protein.
    6. MFHAS1 regulates Toll-like receptor (TLR)-dependent signaling.
      Title: Human leucine-rich repeat proteins: a genome-wide bioinformatic categorization and functional analysis in innate immunity.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. MASL1, a candidate oncogene found in amplification of 8p23.1, is translocated in an immunoblastic B-cell lymphoma cell line.
      Title: MASL1, a candidate oncogene found in amplification at 8p23.1, is translocated in immunoblastic B-cell lymphoma cell line OCI-LY8.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-02-08)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-02-08)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23354

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 2A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 4 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of p38MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of toll-like receptor 2 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of macrophage activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of toll-like receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    malignant fibrous histiocytoma-amplified sequence 1
    Names
    MFH-amplified sequences with leucine-rich tandem repeats 1
    leucine rich repeat containing 65
    malignant fibrous histiocytoma amplified sequence 1
    malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1
    malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_009444.1 RefSeqGene

      Range
      4992..115268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004225.3 → NP_004216.2  malignant fibrous histiocytoma-amplified sequence 1

      See identical proteins and their annotated locations for NP_004216.2

      Status: REVIEWED

      Source sequence(s)
      AC090567, AK027007
      Consensus CDS
      CCDS34844.1
      UniProtKB/Swiss-Prot
      Q96CI0, Q9Y4C4
      UniProtKB/TrEMBL
      A0AAG2THC5
      Related
      ENSP00000276282.6, ENST00000276282.7
      Conserved Domains (5) summary
      cd00116
      Location:124 → 354
      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:113 → 136
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:88 → 147
      LRR_8; Leucine rich repeat
      pfam16095
      Location:660 → 906
      COR; C-terminal of Roc, COR, domain
      cl21455
      Location:409 → 552
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      8783354..8893630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422419.1 → XP_047278375.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2THC5

    2. XM_011543852.4 → XP_011542154.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2THC5
      Conserved Domains (5) summary
      cd00116
      Location:124 → 354
      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:113 → 136
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:88 → 147
      LRR_8; Leucine rich repeat
      pfam16095
      Location:660 → 906
      COR; C-terminal of Roc, COR, domain
      cl21455
      Location:409 → 552
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      4458341..4568641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332281.1 → XP_054188256.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2THC5

    2. XM_054332282.1 → XP_054188257.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2THC5

    RNA

    1. XR_008485756.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      10850500..10960846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361505.1 → XP_054217480.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2THC5

    2. XM_054361506.1 → XP_054217481.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2THC5

    RNA

    1. XR_008487895.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4C4.2 GenPept UniProtKB/Swiss-Prot:Q9Y4C4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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