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Q5SRE5 (NU188_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nucleoporin NUP188 homolog

Short name=hNup188
Gene names
Name:NUP188
Synonyms:KIAA0169
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1749 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May function as a component of the nuclear pore complex (NPC).

Subcellular location

Nucleusnuclear pore complex Probable.

Involvement in disease

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 (Ref.16).

Sequence caution

The sequence CAD97835.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5SRE5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q5SRE5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     116-226: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.11
Chain2 – 17491748Nucleoporin NUP188 homolog
PRO_0000299172

Amino acid modifications

Modified residue21N-acetylalanine Ref.11
Modified residue17091Phosphoserine Ref.10
Modified residue17171Phosphoserine Ref.8 Ref.9 Ref.10 Ref.13 Ref.14 Ref.17

Natural variations

Alternative sequence116 – 226111Missing in isoform 2.
VSP_027585
Natural variant14191A → V.
Corresponds to variant rs17433024 [ dbSNP | Ensembl ].
VAR_034792
Natural variant15871N → K.
Corresponds to variant rs12350674 [ dbSNP | Ensembl ].
VAR_034793

Experimental info

Sequence conflict7731A → T in CAD97835. Ref.1
Sequence conflict9951R → W in AAH40352. Ref.5
Sequence conflict11961Q → R in CAD97835. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 21, 2004. Version 1.
Checksum: E7856A552698F542

FASTA1,749196,043
        10         20         30         40         50         60 
MAAAAGGPCV RSSRELWTIL LGRSALRELS QIEAELNKHW RRLLEGLSYY KPPSPSSAEK 

        70         80         90        100        110        120 
VKANKDVASP LKELGLRISK FLGLDEEQSV QLLQCYLQED YRGTRDSVKT VLQDERQSQA 

       130        140        150        160        170        180 
LILKIADYYY EERTCILRCV LHLLTYFQDE RHPYRVEYAD CVDKLEKELV SKYRQQFEEL 

       190        200        210        220        230        240 
YKTEAPTWET HGNLMTERQV SRWFVQCLRE QSMLLEIIFL YYAYFEMAPS DLLVLTKMFK 

       250        260        270        280        290        300 
EQGFGSRQTN RHLVDETMDP FVDRIGYFSA LILVEGMDIE SLHKCALDDR RELHQFAQDG 

       310        320        330        340        350        360 
LICQDMDCLM LTFGDIPHHA PVLLAWALLR HTLNPEETSS VVRKIGGTAI QLNVFQYLTR 

       370        380        390        400        410        420 
LLQSLASGGN DCTTSTACMC VYGLLSFVLT SLELHTLGNQ QDIIDTACEV LADPSLPELF 

       430        440        450        460        470        480 
WGTEPTSGLG IILDSVCGMF PHLLSPLLQL LRALVSGKST AKKVYSFLDK MSFYNELYKH 

       490        500        510        520        530        540 
KPHDVISHED GTLWRRQTPK LLYPLGGQTN LRIPQGTVGQ VMLDDRAYLV RWEYSYSSWT 

       550        560        570        580        590        600 
LFTCEIEMLL HVVSTADVIQ HCQRVKPIID LVHKVISTDL SIADCLLPIT SRIYMLLQRL 

       610        620        630        640        650        660 
TTVISPPVDV IASCVNCLTV LAARNPAKVW TDLRHTGFLP FVAHPVSSLS QMISAEGMNA 

       670        680        690        700        710        720 
GGYGNLLMNS EQPQGEYGVT IAFLRLITTL VKGQLGSTQS QGLVPCVMFV LKEMLPSYHK 

       730        740        750        760        770        780 
WRYNSHGVRE QIGCLILELI HAILNLCHET DLHSSHTPSL QFLCICSLAY TEAGQTVINI 

       790        800        810        820        830        840 
MGIGVDTIDM VMAAQPRSDG AEGQGQGQLL IKTVKLAFSV TNNVIRLKPP SNVVSPLEQA 

       850        860        870        880        890        900 
LSQHGAHGNN LIAVLAKYIY HKHDPALPRL AIQLLKRLAT VAPMSVYACL GNDAAAIRDA 

       910        920        930        940        950        960 
FLTRLQSKIE DMRIKVMILE FLTVAVETQP GLIELFLNLE VKDGSDGSKE FSLGMWSCLH 

       970        980        990       1000       1010       1020 
AVLELIDSQQ QDRYWCPPLL HRAAIAFLHA LWQDRRDSAM LVLRTKPKFW ENLTSPLFGT 

      1030       1040       1050       1060       1070       1080 
LSPPSETSEP SILETCALIM KIICLEIYYV VKGSLDQSLK DTLKKFSIEK RFAYWSGYVK 

      1090       1100       1110       1120       1130       1140 
SLAVHVAETE GSSCTSLLEY QMLVSAWRML LIIATTHADI MHLTDSVVRR QLFLDVLDGT 

      1150       1160       1170       1180       1190       1200 
KALLLVPASV NCLRLGSMKC TLLLILLRQW KRELGSVDEI LGPLTEILEG VLQADQQLME 

      1210       1220       1230       1240       1250       1260 
KTKAKVFSAF ITVLQMKEMK VSDIPQYSQL VLNVCETLQE EVIALFDQTR HSLALGSATE 

      1270       1280       1290       1300       1310       1320 
DKDSMETDDC SRSRHRDQRD GVCVLGLHLA KELCEVDEDG DSWLQVTRRL PILPTLLTTL 

      1330       1340       1350       1360       1370       1380 
EVSLRMKQNL HFTEATLHLL LTLARTQQGA TAVAGAGITQ SICLPLLSVY QLSTNGTAQT 

      1390       1400       1410       1420       1430       1440 
PSASRKSLDA PSWPGVYRLS MSLMEQLLKT LRYNFLPEAL DFVGVHQERT LQCLNAVRTV 

      1450       1460       1470       1480       1490       1500 
QSLACLEEAD HTVGFILQLS NFMKEWHFHL PQLMRDIQVN LGYLCQACTS LLHSRKMLQH 

      1510       1520       1530       1540       1550       1560 
YLQNKNGDGL PSAVAQRVQR PPSAASAAPS SSKQPAADTE ASEQQALHTV QYGLLKILSK 

      1570       1580       1590       1600       1610       1620 
TLAALRHFTP DVCQILLDQS LDLAEYNFLF ALSFTTPTFD SEVAPSFGTL LATVNVALNM 

      1630       1640       1650       1660       1670       1680 
LGELDKKKEP LTQAVGLSTQ AEGTRTLKSL LMFTMENCFY LLISQAMRYL RDPAVHPRDK 

      1690       1700       1710       1720       1730       1740 
QRMKQELSSE LSTLLSSLSR YFRRGAPSSP ATGVLPSPQG KSTSLSKASP ESQEPLIQLV 


QAFVRHMQR 

« Hide

Isoform 2 [UniParc].

Checksum: 14E227EADB7DEAE7
Show »

FASTA1,638182,293

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Endometrium.
[2]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1."
Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.
DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-1749 (ISOFORM 1).
Tissue: Bone marrow.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 457-1749.
Tissue: Ovary and Uterus.
[6]"Identification of a new vertebrate nucleoporin, Nup188, with the use of a novel organelle trap assay."
Miller B.R., Powers M., Park M., Fischer W., Forbes D.J.
Mol. Biol. Cell 11:3381-3396(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION AS NUCLEOPORIN.
[7]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1717, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1717, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1709 AND SER-1717, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[12]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1717, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1717, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning."
Fakhro K.A., Choi M., Ware S.M., Belmont J.W., Towbin J.A., Lifton R.P., Khokha M.K., Brueckner M.
Proc. Natl. Acad. Sci. U.S.A. 108:2915-2920(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: POSSIBLE INVOLVEMENT IN HETEROTAXY.
[17]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1717, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BX537774 mRNA. Translation: CAD97835.1. Different initiation.
AL672142, AL592211 Genomic DNA. Translation: CAI10845.1.
AL592211, AL672142 Genomic DNA. Translation: CAI12368.1.
CH471090 Genomic DNA. Translation: EAW87850.1.
D79991 mRNA. Translation: BAA11486.1.
BC040352 mRNA. Translation: AAH40352.1.
BC111045 mRNA. Translation: AAI11046.1.
RefSeqNP_056169.1. NM_015354.2.
UniGeneHs.308340.

3D structure databases

ProteinModelPortalQ5SRE5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117058. 22 interactions.
IntActQ5SRE5. 10 interactions.
MINTMINT-4994959.
STRING9606.ENSP00000361658.

PTM databases

PhosphoSiteQ5SRE5.

Polymorphism databases

DMDM74743623.

Proteomic databases

PaxDbQ5SRE5.
PRIDEQ5SRE5.

Protocols and materials databases

DNASU23511.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372577; ENSP00000361658; ENSG00000095319. [Q5SRE5-1]
GeneID23511.
KEGGhsa:23511.
UCSCuc004bws.2. human. [Q5SRE5-1]

Organism-specific databases

CTD23511.
GeneCardsGC09P131709.
HGNCHGNC:17859. NUP188.
MIM615587. gene.
neXtProtNX_Q5SRE5.
PharmGKBPA134908952.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG280768.
HOGENOMHOG000113876.
HOVERGENHBG055598.
InParanoidQ5SRE5.
KOK14311.
OMALHHTGFL.
OrthoDBEOG7W419V.
PhylomeDBQ5SRE5.
TreeFamTF101106.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_115566. Cell Cycle.
REACT_116125. Disease.
REACT_15518. Transmembrane transport of small molecules.
REACT_21300. Mitotic M-M/G1 phases.
REACT_6900. Immune System.

Gene expression databases

BgeeQ5SRE5.
CleanExHS_NUP188.
GenevestigatorQ5SRE5.

Family and domain databases

InterProIPR016024. ARM-type_fold.
IPR018864. Nucleoporin_Nup188.
[Graphical view]
PfamPF10487. Nup188. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 7 hits.
ProtoNetSearch...

Other

ChiTaRSNUP188. human.
GenomeRNAi23511.
NextBio45927.
PROQ5SRE5.
SOURCESearch...

Entry information

Entry nameNU188_HUMAN
AccessionPrimary (citable) accession number: Q5SRE5
Secondary accession number(s): Q14675 expand/collapse secondary AC list , Q2TA87, Q7Z3K8, Q8IWF1
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: December 21, 2004
Last modified: April 16, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM