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

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

STS-AA007564 (e-PCR)
- UniSTS:76294

D8S11490 (e-PCR)
- UniSTS:264995

D8S1672 (e-PCR)
- UniSTS:3363

D8S11550 (e-PCR)
- UniSTS:264996

RH35881 (e-PCR)
- UniSTS:23353

SGC33697 (e-PCR)
- UniSTS:80223

RH48369 (e-PCR)
- UniSTS:1385

WI-18400 (e-PCR)
- UniSTS:75672

RH80386 (e-PCR)
- UniSTS:91095

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

NG_009444.1 RefSeqGene

Range

4992..115268

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

8783354..8893630 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NW_018654717.1 Reference GRCh38.p14 PATCHES

Range

4458341..4568641

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332281.1 → XP_054188256.1 malignant fibrous histiocytoma-amplified sequence 1 isoform X1
XM_054332282.1 → XP_054188257.1 malignant fibrous histiocytoma-amplified sequence 1 isoform X2

RNA

XR_008485756.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

10850500..10960846

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361505.1 → XP_054217480.1 malignant fibrous histiocytoma-amplified sequence 1 isoform X1
XM_054361506.1 → XP_054217481.1 malignant fibrous histiocytoma-amplified sequence 1 isoform X2