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MFHAS1 (multifunctional ROCO family signaling regulator 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9258
Gene nameGene Name - the full gene name approved by the HGNC.
Multifunctional ROCO family signaling regulator 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MFHAS1
SynonymsGene synonyms aliases
LRRC65, MASL1, ROCO4
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 22763110
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 30804561
Unknown
Disease name Disease term dbSNP ID References
Lupus erythematosus Lupus Erythematosus, Systemic 28714469

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