MFHAS1
entrez
9258
canonical
uniprot
Q9Y4C4
canonical
ensembl
ENSG00000147324
resolver
ensp
ENSP00000276282
resolver
ensp
ENSP00000675155
resolver
enst
ENST00000276282
resolver
genesymbol
MFHAS1
resolver
genesymbol_syn
MASL1
resolver
hgnc
HGNC:16982
resolver
uniprot
Q96CI0
resolver
uniprot_entry
MFHA1_HUMAN
resolver
uniprot_sec
Q96CI0
resolver
amino_acid_sequence
MAGMDSGNLKTARLWRDAALRARKLRSNLRQLTLTAAGACPGAGADALESPASPQLVLPANLGDIEALNLGNNGLEEVPEGLGSALGSLRVLVLRRNRFARLPPAVAELGHHLTELDVSHNRLTALGAEVVSALRELRKLNLSHNQLPALPAQLGALAHLEELDVSFNRLAHLPDSLSCLSRLRTLDVDHNQLTAFPRQLLQLVALEELDVSSNRLRGLPEDISALRALKILWLSGAELGTLPAGFCELASLESLMLDNNGLQALPAQFSCLQRLKMLNLSSNLFEEFPAALLPLAGLEELYLSRNQLTSVPSLISGLGRLLTLWLDNNRIRYLPDSIVELTGLEELVLQGNQIAVLPDHFGQLSRVGLWKIKDNPLIQPPYEVCMKGIPYIAAYQKELAHSQPAVQPRLKLLLMGHKAAGKTLLRHCLTEERVEGCPGGGDKEKCYPPSPPPVSKGIEVTSWTADASRGLRFIVYDLAGDESYEVIQPFFLSPGALYVLVVNLATYEPRHFPTTVGSFLHRVGARVPHAVVCIVGTHADLCGERELEEKCLDIHRQIALQEKHDAEGLSRLAKVVDEALARDFELRSASPHAAYYGVSDKNLRRRKAHFQYLLNHRLQILSPVLPVSCRDPRHLRRLRDKLLSVAEHREIFPNLHRVLPRSWQVLEELHFQPPQAQRLWLSWWDSARLGLQAGLTEDRLQSALSYLHESGKLLYFEDSPALKEHVFHNLTRLIDILNVFFQRDPSLLLHKLLLGTSGEGKAEGESSPPMARSTPSQELLRATQLHQYVEGFLLHGLLPAHVIRLLLKPHVQAQQDLQLLLELLEKMGLCYCLNKPKGKPLNGSTAWYKFPCYVQNEVPHAEAWINGTNLAGQSFVAEQLQIEYSFPFTFPLGLFARYSVQINSHVVHRSDGKFQIFAYRGKVPVVVSYRPARGVLQPDTLSIASHASLPNIWTAWQAITPLVEELNVLLQEWPGLHYTVHILCSKCLKRGSPNPHAFPGELLSQPRPEGVAEIICPKNGSERVNVALVYPPTPTVISPCSKKNVGEKHRNQ
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving MFHAS1 may be a cause of B-cell lymphoma. Translocation t(8;14)(p23.1;q21) with a cryptic exon named '14q21 element'. The resulting fusion protein named 'chimeric MASL1' is tumorigenic in nude mice. {ECO:0000269|PubMed:14691450}.
uniprot
proteins
function
FUNCTION: Probable GTP-binding protein (PubMed:24286120). Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways (PubMed:26599367, PubMed:28471450, PubMed:28609714). Negatively regulates the part of the TLR4 signaling pathway that leads to the activation of the transcription factor AP-1. By retaining the phosphatase complex PP2A into the cytoplasm, prevents the dephosphorylation of the AP-1 subunit JUN which is required for proper activation of the transcription factor (PubMed:28609714). Both inhibits and activates the TLR2-dependent signaling pathway (PubMed:26599367). Positively regulates the TLR2 signaling pathway to activate specifically the downstream p38 and JNK MAP kinases and promote the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450). It may also play a role in the regulation of inflammation induced by high glucose through the PKB/AKT signaling pathway (PubMed:29168081). Also involved in erythrocyte differentiation through activation of the ERK1/ERK2 signaling pathway (PubMed:23327923). {ECO:0000269|PubMed:23327923, ECO:0000269|PubMed:24286120, ECO:0000269|PubMed:26599367, ECO:0000269|PubMed:28471450, ECO:0000269|PubMed:28609714, ECO:0000269|PubMed:29168081}.
uniprot
proteins
mass_dalton
116950
uniprot
proteins
mutagenesis
MUTAGEN 414..556; /note="Missing: Dominant negative effect on the ERK1/ERK2 signaling pathway and EPO-induced erythroid differentiation."; /evidence="ECO:0000269|PubMed:23327923"; MUTAGEN 443; /note="K->A: Loss of GTP-binding."; /evidence="ECO:0000269|PubMed:24286120"; MUTAGEN 450; /note="S->A: Dominant negative effect on the ERK1/ERK2 signaling pathway and EPO-induced erythroid differentiation."; /evidence="ECO:0000269|PubMed:23327923
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. Ubiquitination by PJA2 does not lead MFHAS1 to proteasomal degradation but positively regulates its function in polarization of macrophages. {ECO:0000269|PubMed:28471450}.
uniprot
proteins
pubmed
14691450
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20616063
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23327923
uniprot
proteins
pubmed
24286120
uniprot
proteins
pubmed
26599367
uniprot
proteins
pubmed
28471450
uniprot
proteins
pubmed
28609714
uniprot
proteins
pubmed
29168081
uniprot
proteins
pubmed
9973190
uniprot
proteins
sequence_length
1052
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24286120}.
uniprot
proteins