Gene Gene information from NCBI Gene database.
Entrez ID 9258
Gene name Multifunctional ROCO family signaling regulator 1
Gene symbol MFHAS1
Synonyms (NCBI Gene)
LRRC65MASL1ROCO4
Chromosome 8
Chromosome location 8p23.1
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 leu
miRNA miRNA information provided by mirtarbase database.
211
miRTarBase ID miRNA Experiments Reference
MIRT028381 hsa-miR-32-5p Sequencing 20371350
MIRT029740 hsa-miR-26b-5p Microarray 19088304
MIRT050879 hsa-miR-17-5p CLASH 23622248
MIRT050073 hsa-miR-26a-5p CLASH 23622248
MIRT045976 hsa-miR-125b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 23327923, 24286120, 28609714, 29513927, 33961781
GO:0005525 Function GTP binding IDA 24286120
GO:0005525 Function GTP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605352 16982 ENSG00000147324
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4C4
Protein name Malignant fibrous histiocytoma-amplified sequence 1 (Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1)
Protein 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:2860
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 87 147 Leucine rich repeat Repeat
PF13855 LRR_8 111 170 Leucine rich repeat Repeat
PF13855 LRR_8 150 193 Leucine rich repeat Repeat
PF13855 LRR_8 181 239 Leucine rich repeat Repeat
PF13855 LRR_8 204 262 Leucine rich repeat Repeat
PF13855 LRR_8 250 308 Leucine rich repeat Repeat
PF08477 Roc 411 541 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas (PubMed:9973190). Expressed in red blood cells (at protein level) (PubMed:23327923). {ECO:0000269|PubMed:23327923, ECO:0000269|PubMed:9973190}.
Sequence
MAGMDSGNLKTARLWRDAALRARKLRSNLRQLTLTAAGACPGAGADALESPASPQLVLPA
NLGDIEALNLGNNGLEEVPEGLGSALGSLRVLVLRRNRFARLPPAVAELGHHLTELDVSH
NRLTALGAEVVSALRELRKLNLSHNQL
PALPAQLGALAHLEELDVSFNRLAHLPDSLSCL
SRLRTLDVDHNQLTAFPRQLLQLVALEELDVSSNRLRGLPEDISALRALKILWLSGAELG
TLPAGFCELASLESLMLDNNGLQALPAQFSCLQRLKMLNLSSNLFEEFPAALLPLAGLEE
LYLSRNQL
TSVPSLISGLGRLLTLWLDNNRIRYLPDSIVELTGLEELVLQGNQIAVLPDH
FGQLSRVGLWKIKDNPLIQPPYEVCMKGIPYIAAYQKELAHSQPAVQPRLKLLLMGHKAA
GKTLLRHCLTEERVEGCPGGGDKEKCYPPSPPPVSKGIEVTSWTADASRGLRFIVYDLAG
DESYEVIQPFFLSPGALYVLVVNLATYEPRHFPTTVGSFLHRVGARVPHAVVCIVGTHAD
L
CGERELEEKCLDIHRQIALQEKHDAEGLSRLAKVVDEALARDFELRSASPHAAYYGVSD
KNLRRRKAHFQYLLNHRLQILSPVLPVSCRDPRHLRRLRDKLLSVAEHREIFPNLHRVLP
RSWQVLEELHFQPPQAQRLWLSWWDSARLGLQAGLTEDRLQSALSYLHESGKLLYFEDSP
ALKEHVFHNLTRLIDILNVFFQRDPSLLLHKLLLGTSGEGKAEGESSPPMARSTPSQELL
RATQLHQYVEGFLLHGLLPAHVIRLLLKPHVQAQQDLQLLLELLEKMGLCYCLNKPKGKP
LNGSTAWYKFPCYVQNEVPHAEAWINGTNLAGQSFVAEQLQIEYSFPFTFPLGLFARYSV
QINSHVVHRSDGKFQIFAYRGKVPVVVSYRPARGVLQPDTLSIASHASLPNIWTAWQAIT
PLVEELNVLLQEWPGLHYTVHILCSKCLKRGSPNPHAFPGELLSQPRPEGVAEIICPKNG
SERVNVALVYPPTPTVISPCSKKNVGEKHRNQ
Sequence length 1052
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs146502253, rs115597655 RCV005927562
RCV005903556
Clear cell carcinoma of kidney Benign rs115597655 RCV005903557
Familial cancer of breast Likely benign rs75923733 RCV005937328
Lung cancer Likely benign rs75923733 RCV005937331
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 19047905
Colorectal Neoplasms Associate 23045723
Histiocytoma Malignant Fibrous Associate 23327923
Lupus Erythematosus Systemic Associate 28289186
Lymphoma B Cell Associate 26819451, 37906510
Neoplasms Inhibit 17229543
Neoplasms Adipose Tissue Associate 34872092
Obesity Associate 36297114
Stomach Neoplasms Associate 17229543