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MFHAS1 malignant fibrous histiocytoma amplified sequence 1 [ Homo sapiens (human) ]

Gene ID: 9258, updated on 6-Oct-2018

Summary

Official Symbol
MFHAS1provided by HGNC
Official Full Name
malignant fibrous histiocytoma amplified sequence 1provided by HGNC
Primary source
HGNC:HGNC:16982
See related
Ensembl:ENSG00000147324 MIM:605352; Vega:OTTHUMG00000163676
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

Genomic context

See MFHAS1 in Genome Data Viewer
Location:
8p23.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (8783354..8893621, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (8640864..8751131, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379225 Neighboring gene claudin 23 Neighboring gene RNA, U6 small nuclear 682, pseudogene Neighboring gene exoribonuclease 1 Neighboring gene mitochondrial ribosomal protein S18C 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23354

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase 2A binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
NOT cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
NOT lysosome IDA
Inferred from Direct Assay
more info
PubMed 
NOT 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 with leucine-rich tandem repeats 1
malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1

NCBI Reference Sequences (RefSeq)

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
    5001..114133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004225.2NP_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
    Q9Y4C4
    Related
    ENSP00000276282.6, OTTHUMP00000224521, ENST00000276282.6, OTTHUMT00000374724
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    8783354..8893621 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447330.1XP_024303098.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X1

    Conserved Domains (4) summary
    COG4886
    Location:48342
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:113136
    LRR_RI; leucine-rich repeat [structural motif]
    pfam16095
    Location:660906
    COR; C-terminal of Roc, COR, domain
    cl21455
    Location:409552
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_011543852.3XP_011542154.1  malignant fibrous histiocytoma-amplified sequence 1 isoform X2

    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.p12 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p12 PATCHES

    Range
    4458350..4567510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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