ID  O75147;
PN  Obscurin-like protein 1;
GN  OBSL1;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm {ECO:0000269|PubMed:24793695}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24793695}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24793695}. Golgi apparatus {ECO:0000269|PubMed:21572988}. Note=Colocalizes with CUL7 at the Golgi apparatus in neurons (PubMed:21572988).
DR  UNIPROT: O75147;
DR  UNIPROT: A0A024R468;
DR  UNIPROT: A4KVA4;
DR  UNIPROT: A4KVA5;
DR  UNIPROT: Q96IW3;
DR  UNIPROT: S4R3M6;
DR  PDB: 2CPC;
DR  PDB: 2E6P;
DR  PDB: 2E6Q;
DR  PDB: 2LU7;
DR  PDB: 2LVC;
DR  PDB: 2WP3;
DR  PDB: 2WWK;
DR  PDB: 2WWM;
DR  PDB: 3KNB;
DR  PDB: 5FM5;
DR  Pfam: PF07679;
DR  PROSITE: PS50853;
DR  PROSITE: PS50835;
DR  OMIM: 610991;
DR  OMIM: 612921;
DR  DisGeNET: 23363;
DE  Function: Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons. {ECO:0000269|PubMed:21572988, ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}.
DE  Disease: 3M syndrome 2 (3M2) [MIM:612921]: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. {ECO:0000269|PubMed:19481195, ECO:0000269|PubMed:23018678}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P02768; IntAct: EBI-1224020; Score: 0.35
DE  Interaction: Q8WZ42; IntAct: EBI-7984019; Score: 0.78
DE  Interaction: Q8IYT8; IntAct: EBI-3622897; Score: 0.35
DE  Interaction: Q8WVZ9; IntAct: EBI-3232144; Score: 0.35
DE  Interaction: Q96RR4; IntAct: EBI-3251427; Score: 0.53
DE  Interaction: A7MCY6; IntAct: EBI-6116450; Score: 0.35
DE  Interaction: Q16539; IntAct: EBI-6256566; Score: 0.64
DE  Interaction: Q15759; IntAct: EBI-6381006; Score: 0.35
DE  Interaction: P04637; IntAct: EBI-7903232; Score: 0.53
DE  Interaction: O35182; IntAct: EBI-8456591; Score: 0.35
DE  Interaction: P04792; IntAct: EBI-6871150; Score: 0.37
DE  Interaction: Q8IYM1; IntAct: EBI-10819473; Score: 0.37
DE  Interaction: Q8NEP3; IntAct: EBI-12449710; Score: 0.51
DE  Interaction: C5E524; IntAct: EBI-12584280; Score: 0.35
DE  Interaction: B4URF7; IntAct: EBI-12588729; Score: 0.35
DE  Interaction: Q8IVT5; IntAct: EBI-14035664; Score: 0.35
DE  Interaction: P43353; IntAct: EBI-21500028; Score: 0.35
DE  Interaction: Q96H86; IntAct: EBI-21521634; Score: 0.35
DE  Interaction: Q86WR7; IntAct: EBI-21530662; Score: 0.35
DE  Interaction: Q9H6X2; IntAct: EBI-21542347; Score: 0.35
DE  Interaction: Q9UF02; IntAct: EBI-21554221; Score: 0.35
DE  Interaction: Q8IYS4; IntAct: EBI-21565697; Score: 0.35
DE  Interaction: P05067; IntAct: EBI-21580477; Score: 0.35
DE  Interaction: Q8NFN8; IntAct: EBI-21600104; Score: 0.35
DE  Interaction: Q8NA56; IntAct: EBI-21620988; Score: 0.35
DE  Interaction: O14958; IntAct: EBI-21622768; Score: 0.35
DE  Interaction: Q9P286; IntAct: EBI-21659874; Score: 0.35
DE  Interaction: Q92832; IntAct: EBI-21661122; Score: 0.35
DE  Interaction: D6R9G5; IntAct: EBI-21662389; Score: 0.35
DE  Interaction: Q92997; IntAct: EBI-21693668; Score: 0.35
DE  Interaction: Q9BT43; IntAct: EBI-21704895; Score: 0.35
DE  Interaction: Q9BQE6; IntAct: EBI-21711641; Score: 0.35
DE  Interaction: O75386; IntAct: EBI-21712804; Score: 0.35
DE  Interaction: Q9BUG6; IntAct: EBI-21733185; Score: 0.35
DE  Interaction: Q6NZI2; IntAct: EBI-21738912; Score: 0.35
DE  Interaction: Q8IVT2; IntAct: EBI-21751011; Score: 0.35
DE  Interaction: Q8IW50; IntAct: EBI-21781744; Score: 0.35
DE  Interaction: Q9HBJ0; IntAct: EBI-21786331; Score: 0.35
DE  Interaction: A5YM69; IntAct: EBI-21785987; Score: 0.35
DE  Interaction: O95400; IntAct: EBI-21786026; Score: 0.35
DE  Interaction: O95644; IntAct: EBI-21786135; Score: 0.35
DE  Interaction: P30047; IntAct: EBI-21786208; Score: 0.35
DE  Interaction: P54922; IntAct: EBI-21786269; Score: 0.35
DE  Interaction: Q32MK0; IntAct: EBI-21786294; Score: 0.35
DE  Interaction: Q9NYB9; IntAct: EBI-21786440; Score: 0.35
DE  Interaction: Q9UKA8; IntAct: EBI-21786597; Score: 0.35
DE  Interaction: Q8N3Y1; IntAct: EBI-15927108; Score: 0.35
DE  Interaction: Q14999; IntAct: EBI-15927148; Score: 0.54
DE  Interaction: Q9NPC1; IntAct: EBI-20809680; Score: 0.37
DE  Interaction: Q92844; IntAct: EBI-20737201; Score: 0.35
DE  Interaction: O84388; IntAct: EBI-22302856; Score: 0.35
DE  Interaction: Q9H9E1; IntAct: EBI-26656693; Score: 0.35
DE  Interaction: P0DTC9; IntAct: EBI-27127583; Score: 0.35
DE  Interaction: O75381; IntAct: EBI-30835247; Score: 0.44
GO  GO:1990393;
GO  GO:0005813;
GO  GO:0005737;
GO  GO:0005829;
GO  GO:0005794;
GO  GO:0014704;
GO  GO:0031430;
GO  GO:0048471;
GO  GO:0045202;
GO  GO:0030018;
GO  GO:0008093;
GO  GO:0055003;
GO  GO:0007010;
GO  GO:0007030;
GO  GO:0007156;
GO  GO:0000226;
GO  GO:0050775;
GO  GO:0034067;
GO  GO:0007088;
GO  GO:0010842;
GO  GO:0007416;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAG
SQ  VYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLY
SQ  WEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEA
SQ  PAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCA
SQ  ARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIH
SQ  RLKADDDGIYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMH
SQ  ALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGS
SQ  EDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGRSPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLS
SQ  TIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSP
SQ  QDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKVQDSGEFECRTEGVSAFFGVT
SQ  VQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRWYKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCV
SQ  AGDECAYFTVTITDVSSWIVYPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAV
SQ  QLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPVRWYKDGLEVEESEALVLERD
SQ  GPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPERIVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLE
SQ  VEASDALQLGAEGPTRTLTLPHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRA
SQ  GAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTVQVAEPPVRVVAPEAAQTRVR
SQ  STPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQAGARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLV
SQ  KLVSELTPLTVHEGDDATFRCEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSA
SQ  RLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQDGHIHRLFIHGVILADQGTY
SQ  GCESHHDRTLARLSVRPRQLRVLRPLEDVTISEGGSATFQLELSQEGVTGEWARGGVQLYPGPKCHIHSDGHRHRLVLNG
SQ  LGLADSGCVSFTADSLRCAARLIVREVPVTIVRGPHDLEVTEGDTATFECELSQALADVTWEKDGNALTPSPRLRLQALG
SQ  TRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSELRSVSAREGDGATFECTVSEVETTGRWELGGRPLRP
SQ  GARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLALLEVEALPLQMCRHPPREKTVLVGRRAVLEVTVSRSGGHVC
SQ  WLREGAELCPGDKYEMRSHGPTHSLVIHDVRPEDQGTYCCQAGQDSTHTRLLVEGN
//