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

    Gene ID: 9258, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
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    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    Genomic

    1. NG_009444.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_004225.3NP_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:124354
      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:113136
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:88147
      LRR_8; Leucine rich repeat
      pfam16095
      Location:660906
      COR; C-terminal of Roc, COR, domain
      cl21455
      Location:409552
      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_047422419.1XP_047278375.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2THC5
    2. XM_011543852.4XP_011542154.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2THC5
      Conserved Domains (5) summary
      cd00116
      Location:124354
      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:113136
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:88147
      LRR_8; Leucine rich repeat
      pfam16095
      Location:660906
      COR; C-terminal of Roc, COR, domain
      cl21455
      Location:409552
      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_054332281.1XP_054188256.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2THC5
    2. XM_054332282.1XP_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_054361505.1XP_054217480.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X1

      UniProtKB/TrEMBL
      A0AAG2THC5
    2. XM_054361506.1XP_054217481.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X2

      UniProtKB/TrEMBL
      A0AAG2THC5

    RNA

    1. XR_008487895.1 RNA Sequence