Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9258
Gene name Gene Name - the full gene name approved by the HGNC.
Multifunctional ROCO family signaling regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MFHAS1
Synonyms (NCBI Gene) Gene synonyms aliases
LRRC65, MASL1, ROCO4
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
Summary Summary of gene provided in NCBI Entrez 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 leu
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23327923, 24286120, 28609714
GO:0005525 Function GTP binding IDA 24286120
GO:0005737 Component Cytoplasm IDA 24286120, 28471450
GO:0005739 Component Mitochondrion IDA 24286120
GO:0005764 Component Lysosome IDA 24286120
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605352 16982 ENSG00000147324
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 22763110
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561 ClinVar
Neuroticism Neuroticism GWAS
Diabetes Diabetes GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
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