MFHAS1
Malignant fibrous histiocytoma-amplified sequence 1
Also known as: LRRC65, MASL1, MFHA1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y4C4
- Gene
- MFHAS1
- Ensembl
- ENSG00000147324
- Chromosome
- 8
- Canonical length
- 1052 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1052 residues, UniProt reviewed canonical sequence.
>Q9Y4C4|MFHAS1
1 MAGMDSGNLK TARLWRDAAL RARKLRSNLR QLTLTAAGAC PGAGADALES PASPQLVLPA
61 NLGDIEALNL GNNGLEEVPE GLGSALGSLR VLVLRRNRFA RLPPAVAELG HHLTELDVSH
121 NRLTALGAEV VSALRELRKL NLSHNQLPAL PAQLGALAHL EELDVSFNRL AHLPDSLSCL
181 SRLRTLDVDH NQLTAFPRQL LQLVALEELD VSSNRLRGLP EDISALRALK ILWLSGAELG
241 TLPAGFCELA SLESLMLDNN GLQALPAQFS CLQRLKMLNL SSNLFEEFPA ALLPLAGLEE
301 LYLSRNQLTS VPSLISGLGR LLTLWLDNNR IRYLPDSIVE LTGLEELVLQ GNQIAVLPDH
361 FGQLSRVGLW KIKDNPLIQP PYEVCMKGIP YIAAYQKELA HSQPAVQPRL KLLLMGHKAA
421 GKTLLRHCLT EERVEGCPGG GDKEKCYPPS PPPVSKGIEV TSWTADASRG LRFIVYDLAG
481 DESYEVIQPF FLSPGALYVL VVNLATYEPR HFPTTVGSFL HRVGARVPHA VVCIVGTHAD
541 LCGERELEEK CLDIHRQIAL QEKHDAEGLS RLAKVVDEAL ARDFELRSAS PHAAYYGVSD
601 KNLRRRKAHF QYLLNHRLQI LSPVLPVSCR DPRHLRRLRD KLLSVAEHRE IFPNLHRVLP
661 RSWQVLEELH FQPPQAQRLW LSWWDSARLG LQAGLTEDRL QSALSYLHES GKLLYFEDSP
721 ALKEHVFHNL TRLIDILNVF FQRDPSLLLH KLLLGTSGEG KAEGESSPPM ARSTPSQELL
781 RATQLHQYVE GFLLHGLLPA HVIRLLLKPH VQAQQDLQLL LELLEKMGLC YCLNKPKGKP
841 LNGSTAWYKF PCYVQNEVPH AEAWINGTNL AGQSFVAEQL QIEYSFPFTF PLGLFARYSV
901 QINSHVVHRS DGKFQIFAYR GKVPVVVSYR PARGVLQPDT LSIASHASLP NIWTAWQAIT
961 PLVEELNVLL QEWPGLHYTV HILCSKCLKR GSPNPHAFPG ELLSQPRPEG VAEIICPKNG
1021 SERVNVALVY PPTPTVISPC SKKNVGEKHR NQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MFHAS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- colon: 12 nTPM
- bone marrow: 11 nTPM
- rectum: 11 nTPM
- blood vessel: 11 nTPM
- spleen: 11 nTPM
- kidney: 10 nTPM
Single-cell type
- distal convoluted tubule cells: 509 nCPM
- renal connecting tubule cells: 480 nCPM
- loop of henle epithelial cells: 322 nCPM
- renal collecting duct principal cells: 187 nCPM
- proximal tubule cells: 180 nCPM
- astrocytes: 168 nCPM
Immune cell
- memory CD4 T-cell: 1.3 nTPM
- T-reg: 1.2 nTPM
- gdT-cell: 0.9 nTPM
- memory CD8 T-cell: 0.8 nTPM
- MAIT T-cell: 0.7 nTPM
- naive CD4 T-cell: 0.6 nTPM
Brain region
- thalamus: 17 nTPM
- cerebral cortex: 16 nTPM
- hippocampal formation: 15 nTPM
- midbrain: 14 nTPM
- cerebellum: 14 nTPM
- amygdala: 13 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.82
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.94
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- erythrocyte differentiation
- inflammatory response
- innate immune response
- intracellular signal transduction
- negative regulation of inflammatory response
- negative regulation of protein localization to nucleus
- negative regulation of toll-like receptor 2 signaling pathway
- negative regulation of toll-like receptor 4 signaling pathway
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of JNK cascade
- positive regulation of p38MAPK cascade
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of toll-like receptor 2 signaling pathway
- regulation of macrophage activation
- regulation of toll-like receptor signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MFHAS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MFHAS1 as an antibody target. Whether an autoantibody or antibody against MFHAS1 could matter depends on whether native MFHAS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MFHAS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MFHAS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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