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

Gene ID: 9258, updated on 5-Mar-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
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Genomic context

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Location:
8p23.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (8783354..8893630, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (10850500..10960846)
105.20220307 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: 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

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Related articles in PubMed

  1. MASL1: a neglected ROCO protein. Dihanich S. Biochem Soc Trans, 2012 Oct. PMID 22988871
  2. 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
  3. 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
  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. MFHAS1 Is Associated with Sepsis and Stimulates TLR2/NF-κB Signaling Pathway Following Negative Regulation. Zhong J, et al. PLoS One, 2015. PMID 26599367, Free PMC Article

See all (27) 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)

Genotypes

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in innate immune response 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 dephosphorylation 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
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
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
    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_2023_10

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

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

    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

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

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

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

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.

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