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SGSM1 (small G protein signaling modulator 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
129049
Gene nameGene Name - the full gene name approved by the HGNC.
Small G protein signaling modulator 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SGSM1
SynonymsGene synonyms aliases
RUTBC2
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.23
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT038662 hsa-miR-221-5p CLASH 23622248
MIRT036711 hsa-miR-760 CLASH 23622248
MIRT631290 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT631289 hsa-miR-1323 HITS-CLIP 23824327
MIRT631288 hsa-miR-548o-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005096 Function GTPase activator activity IDA 22637480
GO:0005737 Component Cytoplasm ISS
GO:0005794 Component Golgi apparatus IEA
GO:0005829 Component Cytosol IDA 22637480
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q2NKQ1
Protein name Small G protein signaling modulator 1 (RUN and TBC1 domain-containing protein 2)
Protein function Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as a GTPase effector with RAB9A and RAB9B; does not stimulate GT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02759 RUN
44 188
RUN domain
Family
PF12068 PH_RBD
255 391
Rab-binding domain (RBD)
Domain
PF00566 RabGAP-TBC
916 1105
Rab-GTPase-TBC domain
Family
Sequence
MASAPAEAETRQRLLRTVKKEVKQIMEEAVTRKFVHEDSSHIISFCAAVEACVLHGLRRR
AAGFLRSNKIAALFMKVGKNFPPAEDLSRKVQDLEQLIESARNQIQGLQENVRKLPKLPN
LSPLAIKHLWIRTALFEKVLDKIVHYLVENSSKYYEKEALLMDPVDGPILASLLVGPCAL
EYTKMKTA
DHFWTDPSADELVQRHRIHSSHVRQDSPTKRPALCIQKRHSSGSMDDRPSLS
ARDYVESLHQNSRATLLYGKNNVLVQPRDDMEAVPGYLSLHQTADVMTLKWTPNQLMNGS
VGDLDYEKSVYWDYAMTIRLEEIVYLHCHQQVDSGGTVVLVSQDGIQRPPFRFPKGGHLL
QFLSCLENGLLPHGQLDPPLWSQRGKGKVFP
KLRKRSPQGSAESTSSDKDDDEATDYVFR
IIYPGMQSEFVAPDFLGSTSSVSVGPAWMMVPAGRSMLVVARGSQWEPARWDTTLPTPSP
KEQPPMPQDLMDVSVSNLPSLWQPSPRKSSCSSCSQSGSADGSSTNGCNHERAPLKLLCD
NMKYQILSRAFYGWLAYCRHLSTVRTHLSALVNHMIVSPDLPCDAGQGLTARIWEQYLHD
STSYEEQELLRLIYYGGIQPEIRKAVWPFLLGHYQFGMTETERKEVDEQIHACYAQTMAE
WLGCEAIVRQRERESHAAALAKCSSGASLDSHLHRMLHRDSTISNESSQSCSSGRQNIRL
HSDSSSSTQVFESVDEVEQVEAEGRLEEKQPKIPNGNLVNGTCSPDSGHPSSHNFSSGLS
EHSEPSLSTEDSVLDAQRNTPTVLRPRDGSVDDRQSSEATTSQDEAPREELAVQDSLESD
LLANESMDEFMSITGSLDMALPEKDDVVMEGWRSSETEKHGQADSEDNLSEEPEMESLFP
ALASLAVTTSANEVSPVSSSGVTYSPELLDLYTVNLHRIEKDVQRCDRNYWYFTPANLEK
LRNIMCSYIWQHIEIGYVQGMCDLLAPLLVILDDEALAFSCFTELMKRMNQNFPHGGAMD
THFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELVYDDVFLVWETIWAA
KHVSSAHYVLFIALALVEVYRDIIL
ENNMDFTDIIKFFNEMAERHNTKQVLKLARDLVYK
VQTLIENK
Sequence length 1148
Interactions View interactions
Associated diseases
Unknown
Disease name Disease term dbSNP ID References
Astigmatism Astigmatism 30306274
Cholangitis Cholangitis, Sclerosing 27992413

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