Seroatlas · Human Serome Atlas

NUP188

Nucleoporin NUP188

Also known as: KIAA0169, NU188_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5SRE5
Gene: NUP188
Ensembl: ENSG00000095319
Chromosome: 9
Canonical length: 1749 aa
Protein class: Disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI Gene

The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

1749 residues, UniProt reviewed canonical sequence.

>Q5SRE5|NUP188
     1  MAAAAGGPCV RSSRELWTIL LGRSALRELS QIEAELNKHW RRLLEGLSYY KPPSPSSAEK
    61  VKANKDVASP LKELGLRISK FLGLDEEQSV QLLQCYLQED YRGTRDSVKT VLQDERQSQA
   121  LILKIADYYY EERTCILRCV LHLLTYFQDE RHPYRVEYAD CVDKLEKELV SKYRQQFEEL
   181  YKTEAPTWET HGNLMTERQV SRWFVQCLRE QSMLLEIIFL YYAYFEMAPS DLLVLTKMFK
   241  EQGFGSRQTN RHLVDETMDP FVDRIGYFSA LILVEGMDIE SLHKCALDDR RELHQFAQDG
   301  LICQDMDCLM LTFGDIPHHA PVLLAWALLR HTLNPEETSS VVRKIGGTAI QLNVFQYLTR
   361  LLQSLASGGN DCTTSTACMC VYGLLSFVLT SLELHTLGNQ QDIIDTACEV LADPSLPELF
   421  WGTEPTSGLG IILDSVCGMF PHLLSPLLQL LRALVSGKST AKKVYSFLDK MSFYNELYKH
   481  KPHDVISHED GTLWRRQTPK LLYPLGGQTN LRIPQGTVGQ VMLDDRAYLV RWEYSYSSWT
   541  LFTCEIEMLL HVVSTADVIQ HCQRVKPIID LVHKVISTDL SIADCLLPIT SRIYMLLQRL
   601  TTVISPPVDV IASCVNCLTV LAARNPAKVW TDLRHTGFLP FVAHPVSSLS QMISAEGMNA
   661  GGYGNLLMNS EQPQGEYGVT IAFLRLITTL VKGQLGSTQS QGLVPCVMFV LKEMLPSYHK
   721  WRYNSHGVRE QIGCLILELI HAILNLCHET DLHSSHTPSL QFLCICSLAY TEAGQTVINI
   781  MGIGVDTIDM VMAAQPRSDG AEGQGQGQLL IKTVKLAFSV TNNVIRLKPP SNVVSPLEQA
   841  LSQHGAHGNN LIAVLAKYIY HKHDPALPRL AIQLLKRLAT VAPMSVYACL GNDAAAIRDA
   901  FLTRLQSKIE DMRIKVMILE FLTVAVETQP GLIELFLNLE VKDGSDGSKE FSLGMWSCLH
   961  AVLELIDSQQ QDRYWCPPLL HRAAIAFLHA LWQDRRDSAM LVLRTKPKFW ENLTSPLFGT
  1021  LSPPSETSEP SILETCALIM KIICLEIYYV VKGSLDQSLK DTLKKFSIEK RFAYWSGYVK
  1081  SLAVHVAETE GSSCTSLLEY QMLVSAWRML LIIATTHADI MHLTDSVVRR QLFLDVLDGT
  1141  KALLLVPASV NCLRLGSMKC TLLLILLRQW KRELGSVDEI LGPLTEILEG VLQADQQLME
  1201  KTKAKVFSAF ITVLQMKEMK VSDIPQYSQL VLNVCETLQE EVIALFDQTR HSLALGSATE
  1261  DKDSMETDDC SRSRHRDQRD GVCVLGLHLA KELCEVDEDG DSWLQVTRRL PILPTLLTTL
  1321  EVSLRMKQNL HFTEATLHLL LTLARTQQGA TAVAGAGITQ SICLPLLSVY QLSTNGTAQT
  1381  PSASRKSLDA PSWPGVYRLS MSLMEQLLKT LRYNFLPEAL DFVGVHQERT LQCLNAVRTV
  1441  QSLACLEEAD HTVGFILQLS NFMKEWHFHL PQLMRDIQVN LGYLCQACTS LLHSRKMLQH
  1501  YLQNKNGDGL PSAVAQRVQR PPSAASAAPS SSKQPAADTE ASEQQALHTV QYGLLKILSK
  1561  TLAALRHFTP DVCQILLDQS LDLAEYNFLF ALSFTTPTFD SEVAPSFGTL LATVNVALNM
  1621  LGELDKKKEP LTQAVGLSTQ AEGTRTLKSL LMFTMENCFY LLISQAMRYL RDPAVHPRDK
  1681  QRMKQELSSE LSTLLSSLSR YFRRGAPSSP ATGVLPSPQG KSTSLSKASP ESQEPLIQLV
  1741  QAFVRHMQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NUP188 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

testis: 53 nTPM
thymus: 26 nTPM
esophagus: 23 nTPM
bone marrow: 20 nTPM
skin: 20 nTPM
tonsil: 19 nTPM

Single-cell type

epicardial cells: 82 nCPM
bergmann glia: 64 nCPM
early primary spermatocytes: 59 nCPM
differentiating spermatogonia: 50 nCPM
late primary spermatocytes: 48 nCPM
erythrocyte progenitors: 44 nCPM

Immune cell

MAIT T-cell: 9.8 nTPM
intermediate monocyte: 8.9 nTPM
T-reg: 8.3 nTPM
basophil: 8.2 nTPM
gdT-cell: 7.5 nTPM
memory CD8 T-cell: 7.4 nTPM

Brain region

cerebellum: 26 nTPM
medulla oblongata: 23 nTPM
white matter: 22 nTPM
midbrain: 22 nTPM
thalamus: 22 nTPM
basal ganglia: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NUP188.

Disease | AllUniProt

Conditions NUP188 is implicated in, by any mechanism.

Sandestig-Stefanova syndrome (SANDSTEF) MIM:618804

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 446 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Sandestig-stefanova syndrome
NUP188-related disorder
Microcephaly
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.3
gnomAD pLI: 0.95
gnomAD missense Z: 1.12
DepMap mean gene effect: -0.32
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

structural constituent of nuclear pore

Cellular components

Protein domainsUniProt · Pfam · InterPro

Armadillo-type fold
Nucleoporin Nup188, N-terminal
Nucleoporin Nup188
Nucleoporin Nup188, N-terminal subdomain III
Nucleoporin Nup188, N-terminal
Nucleoporin Nup188, N-terminal subdomain III
Nup188 SH3-like domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NUP188 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NUP188 as an antibody target. Whether an autoantibody or antibody against NUP188 could matter depends on whether native NUP188 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NUP188 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NUP188 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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