ID  Q5SRE5;
PN  Nucleoporin NUP188;
GN  NUP188;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0185;
SL  Comments: Nucleus, nuclear pore complex {ECO:0000305|PubMed:32275884}.
DR  UNIPROT: Q5SRE5;
DR  UNIPROT: Q14675;
DR  UNIPROT: Q2TA87;
DR  UNIPROT: Q7Z3K8;
DR  UNIPROT: Q8IWF1;
DR  PDB: 5IJO;
DR  Pfam: PF10487;
DR  OMIM: 615587;
DR  OMIM: 618804;
DR  DisGeNET: 23511;
DE  Function: Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope (Probable). Required for proper protein transport into the nucleus (PubMed:32275884). {ECO:0000269|PubMed:32275884, ECO:0000305|PubMed:32275884}.
DE  Disease: Note=Copy number variations of NUP188 gene may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left-right (LR) body patterning. {ECO:0000269|PubMed:21282601}. Sandestig-Stefanova syndrome (SANDSTEF) [MIM:618804]: An autosomal recessive syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital bilateral cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, specific brain changes such as loss of periventricular white matter, thin corpus callosum, and delayed myelinization. {ECO:0000269|PubMed:32021605, ECO:0000269|PubMed:32275884}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P00533; IntAct: EBI-32717697; Score: 0.35
DE  Interaction: P0DTC7; IntAct: EBI-25687011; Score: 0.35
DE  Interaction: P49790; IntAct: EBI-11076796; Score: 0.35
DE  Interaction: P53671; IntAct: EBI-28938453; Score: 0.35
DE  Interaction: P57740; IntAct: EBI-11160436; Score: 0.35
DE  Interaction: Q14974; IntAct: EBI-11115566; Score: 0.35
DE  Interaction: P01106; IntAct: EBI-1062503; Score: 0.00
DE  Interaction: O75365; IntAct: EBI-1068582; Score: 0.00
DE  Interaction: Q8IY92; IntAct: EBI-2370766; Score: 0.35
DE  Interaction: Q13283; IntAct: EBI-2514311; Score: 0.40
DE  Interaction: P24386; IntAct: EBI-2515120; Score: 0.40
DE  Interaction: Q80U93; IntAct: EBI-2555228; Score: 0.56
DE  Interaction: Q6ZQH8; IntAct: EBI-2563113; Score: 0.40
DE  Interaction: Q15051; IntAct: EBI-4286917; Score: 0.35
DE  Interaction: P19320; IntAct: EBI-6191076; Score: 0.53
DE  Interaction: Q8NE63; IntAct: EBI-6381132; Score: 0.35
DE  Interaction: Q9UPZ9; IntAct: EBI-6381514; Score: 0.35
DE  Interaction: Q8WYP5; IntAct: EBI-9050350; Score: 0.40
DE  Interaction: Q6PFD9; IntAct: EBI-10994876; Score: 0.35
DE  Interaction: Q8BH74; IntAct: EBI-10997196; Score: 0.35
DE  Interaction: Q9ERU9; IntAct: EBI-10999306; Score: 0.35
DE  Interaction: P62700; IntAct: EBI-11010796; Score: 0.35
DE  Interaction: Q99JI4; IntAct: EBI-11026623; Score: 0.35
DE  Interaction: Q8VE37; IntAct: EBI-11043815; Score: 0.35
DE  Interaction: P63280; IntAct: EBI-11044140; Score: 0.35
DE  Interaction: Q8R344; IntAct: EBI-11048683; Score: 0.35
DE  Interaction: Q99PL5; IntAct: EBI-11066888; Score: 0.35
DE  Interaction: Q9BVL2; IntAct: EBI-11077390; Score: 0.35
DE  Interaction: Q96EE3; IntAct: EBI-11086798; Score: 0.35
DE  Interaction: Q8NBT2; IntAct: EBI-11147438; Score: 0.35
DE  Interaction: P06821; IntAct: EBI-12577493; Score: 0.35
DE  Interaction: P03496; IntAct: EBI-12578833; Score: 0.35
DE  Interaction: I6T1Z2; IntAct: EBI-12581451; Score: 0.35
DE  Interaction: O15155; IntAct: EBI-16788067; Score: 0.27
DE  Interaction: P22087; IntAct: EBI-16792282; Score: 0.27
DE  Interaction: P62753; IntAct: EBI-16798663; Score: 0.27
DE  Interaction: A2A935; IntAct: EBI-21022882; Score: 0.35
DE  Interaction: P14404; IntAct: EBI-21026252; Score: 0.35
DE  Interaction: Q5S007; IntAct: EBI-21360986; Score: 0.35
DE  Interaction: Q9Y275; IntAct: EBI-21266480; Score: 0.35
DE  Interaction: P13569; IntAct: EBI-25416349; Score: 0.35
DE  Interaction: P19419; IntAct: EBI-25378580; Score: 0.35
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: Q9C0B5; IntAct: EBI-25637382; Score: 0.35
DE  Interaction: P59635; IntAct: EBI-25688593; Score: 0.35
DE  Interaction: O14733; IntAct: EBI-28930089; Score: 0.35
DE  Interaction: P11274; IntAct: EBI-28931791; Score: 0.35
DE  Interaction: P51617; IntAct: EBI-28935882; Score: 0.35
DE  Interaction: Q16654; IntAct: EBI-28941523; Score: 0.35
DE  Interaction: Q86UX6; IntAct: EBI-28942129; Score: 0.35
DE  Interaction: Q8TDX7; IntAct: EBI-28943744; Score: 0.35
DE  Interaction: Q96GD4; IntAct: EBI-28944360; Score: 0.35
DE  Interaction: Q96QS6; IntAct: EBI-28944559; Score: 0.35
DE  Interaction: Q9NRM7; IntAct: EBI-28946455; Score: 0.35
DE  Interaction: Q9Y6S9; IntAct: EBI-28948011; Score: 0.35
DE  Interaction: Q9H5K3; IntAct: EBI-28948637; Score: 0.35
DE  Interaction: Q8NCK7; IntAct: EBI-27103180; Score: 0.35
DE  Interaction: Q06418; IntAct: EBI-32719716; Score: 0.35
DE  Interaction: P30530; IntAct: EBI-32719959; Score: 0.27
DE  Interaction: P11362; IntAct: EBI-32721578; Score: 0.27
DE  Interaction: P17948; IntAct: EBI-32722433; Score: 0.27
DE  Interaction: P36888; IntAct: EBI-32722567; Score: 0.27
DE  Interaction: O75771; IntAct: EBI-34582077; Score: 0.35
GO  GO:0005829;
GO  GO:0016020;
GO  GO:0005635;
GO  GO:0005643;
GO  GO:0044611;
GO  GO:0017056;
GO  GO:0051028;
GO  GO:0006913;
GO  GO:0006606;
GO  GO:0006405;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MAAAAGGPCVRSSRELWTILLGRSALRELSQIEAELNKHWRRLLEGLSYYKPPSPSSAEKVKANKDVASPLKELGLRISK
SQ  FLGLDEEQSVQLLQCYLQEDYRGTRDSVKTVLQDERQSQALILKIADYYYEERTCILRCVLHLLTYFQDERHPYRVEYAD
SQ  CVDKLEKELVSKYRQQFEELYKTEAPTWETHGNLMTERQVSRWFVQCLREQSMLLEIIFLYYAYFEMAPSDLLVLTKMFK
SQ  EQGFGSRQTNRHLVDETMDPFVDRIGYFSALILVEGMDIESLHKCALDDRRELHQFAQDGLICQDMDCLMLTFGDIPHHA
SQ  PVLLAWALLRHTLNPEETSSVVRKIGGTAIQLNVFQYLTRLLQSLASGGNDCTTSTACMCVYGLLSFVLTSLELHTLGNQ
SQ  QDIIDTACEVLADPSLPELFWGTEPTSGLGIILDSVCGMFPHLLSPLLQLLRALVSGKSTAKKVYSFLDKMSFYNELYKH
SQ  KPHDVISHEDGTLWRRQTPKLLYPLGGQTNLRIPQGTVGQVMLDDRAYLVRWEYSYSSWTLFTCEIEMLLHVVSTADVIQ
SQ  HCQRVKPIIDLVHKVISTDLSIADCLLPITSRIYMLLQRLTTVISPPVDVIASCVNCLTVLAARNPAKVWTDLRHTGFLP
SQ  FVAHPVSSLSQMISAEGMNAGGYGNLLMNSEQPQGEYGVTIAFLRLITTLVKGQLGSTQSQGLVPCVMFVLKEMLPSYHK
SQ  WRYNSHGVREQIGCLILELIHAILNLCHETDLHSSHTPSLQFLCICSLAYTEAGQTVINIMGIGVDTIDMVMAAQPRSDG
SQ  AEGQGQGQLLIKTVKLAFSVTNNVIRLKPPSNVVSPLEQALSQHGAHGNNLIAVLAKYIYHKHDPALPRLAIQLLKRLAT
SQ  VAPMSVYACLGNDAAAIRDAFLTRLQSKIEDMRIKVMILEFLTVAVETQPGLIELFLNLEVKDGSDGSKEFSLGMWSCLH
SQ  AVLELIDSQQQDRYWCPPLLHRAAIAFLHALWQDRRDSAMLVLRTKPKFWENLTSPLFGTLSPPSETSEPSILETCALIM
SQ  KIICLEIYYVVKGSLDQSLKDTLKKFSIEKRFAYWSGYVKSLAVHVAETEGSSCTSLLEYQMLVSAWRMLLIIATTHADI
SQ  MHLTDSVVRRQLFLDVLDGTKALLLVPASVNCLRLGSMKCTLLLILLRQWKRELGSVDEILGPLTEILEGVLQADQQLME
SQ  KTKAKVFSAFITVLQMKEMKVSDIPQYSQLVLNVCETLQEEVIALFDQTRHSLALGSATEDKDSMETDDCSRSRHRDQRD
SQ  GVCVLGLHLAKELCEVDEDGDSWLQVTRRLPILPTLLTTLEVSLRMKQNLHFTEATLHLLLTLARTQQGATAVAGAGITQ
SQ  SICLPLLSVYQLSTNGTAQTPSASRKSLDAPSWPGVYRLSMSLMEQLLKTLRYNFLPEALDFVGVHQERTLQCLNAVRTV
SQ  QSLACLEEADHTVGFILQLSNFMKEWHFHLPQLMRDIQVNLGYLCQACTSLLHSRKMLQHYLQNKNGDGLPSAVAQRVQR
SQ  PPSAASAAPSSSKQPAADTEASEQQALHTVQYGLLKILSKTLAALRHFTPDVCQILLDQSLDLAEYNFLFALSFTTPTFD
SQ  SEVAPSFGTLLATVNVALNMLGELDKKKEPLTQAVGLSTQAEGTRTLKSLLMFTMENCFYLLISQAMRYLRDPAVHPRDK
SQ  QRMKQELSSELSTLLSSLSRYFRRGAPSSPATGVLPSPQGKSTSLSKASPESQEPLIQLVQAFVRHMQR
//