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Protein

Nuclear envelope pore membrane protein POM 121

Gene

POM121

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL).1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

mRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1169408. ISG15 antiviral mechanism.
R-HSA-159227. Transport of the SLBP independent Mature mRNA.
R-HSA-159230. Transport of the SLBP Dependant Mature mRNA.
R-HSA-159231. Transport of Mature mRNA Derived from an Intronless Transcript.
R-HSA-159236. Transport of Mature mRNA derived from an Intron-Containing Transcript.
R-HSA-165054. Rev-mediated nuclear export of HIV RNA.
R-HSA-168271. Transport of Ribonucleoproteins into the Host Nucleus.
R-HSA-168276. NS1 Mediated Effects on Host Pathways.
R-HSA-168325. Viral Messenger RNA Synthesis.
R-HSA-168333. NEP/NS2 Interacts with the Cellular Export Machinery.
R-HSA-170822. Regulation of Glucokinase by Glucokinase Regulatory Protein.
R-HSA-180746. Nuclear import of Rev protein.
R-HSA-180910. Vpr-mediated nuclear import of PICs.
R-HSA-191859. snRNP Assembly.
R-HSA-3108214. SUMOylation of DNA damage response and repair proteins.
R-HSA-3301854. Nuclear Pore Complex (NPC) Disassembly.
R-HSA-3371453. Regulation of HSF1-mediated heat shock response.
R-HSA-4570464. SUMOylation of RNA binding proteins.
R-HSA-4615885. SUMOylation of DNA replication proteins.
R-HSA-5578749. Transcriptional regulation by small RNAs.
R-HSA-6784531. tRNA processing in the nucleus.

Protein family/group databases

TCDBi1.I.1.1.3. the nuclear pore complex (npc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear envelope pore membrane protein POM 121
Alternative name(s):
Nuclear envelope pore membrane protein POM 121A
Nucleoporin Nup121
Pore membrane protein of 121 kDa
Gene namesi
Name:POM121
Synonyms:KIAA0618, NUP121, POM121A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:19702. POM121.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei35 – 55HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nuclear pore complex, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9883.
OpenTargetsiENSG00000196313.
PharmGKBiPA134987951.

Polymorphism and mutation databases

DMDMi205829302.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003467731 – 1249Nuclear envelope pore membrane protein POM 121Add BLAST1249

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94PhosphoserineBy similarity1
Modified residuei345PhosphoserineBy similarity1
Modified residuei351PhosphoserineCombined sources1
Modified residuei371PhosphoserineCombined sources1
Modified residuei393PhosphoserineBy similarity1
Modified residuei396PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96HA1.
MaxQBiQ96HA1.
PaxDbiQ96HA1.
PeptideAtlasiQ96HA1.
PRIDEiQ96HA1.

PTM databases

iPTMnetiQ96HA1.
PhosphoSitePlusiQ96HA1.

Expressioni

Gene expression databases

BgeeiENSG00000196313.
CleanExiHS_POM121.
GenevisibleiQ96HA1. HS.

Organism-specific databases

HPAiCAB003710.
HPA043809.
HPA049817.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
AGR2O959944EBI-739990,EBI-712648
CEP76Q8TAP63EBI-739990,EBI-742887
FXR2P511164EBI-739990,EBI-740459
HOMER3B2RA103EBI-739990,EBI-10175777
PAXIP1Q6ZW49-23EBI-739990,EBI-10236271
RBPMSQ930624EBI-739990,EBI-740322
TEX11Q8IYF34EBI-739990,EBI-742397

Protein-protein interaction databases

BioGridi115214. 56 interactors.
IntActiQ96HA1. 54 interactors.
MINTiMINT-1437396.
STRINGi9606.ENSP00000257622.

Structurei

3D structure databases

ProteinModelPortaliQ96HA1.
SMRiQ96HA1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 285Required for targeting to the nucleus and nuclear pore complexAdd BLAST285
Regioni1 – 34Cisternal sideSequence analysisAdd BLAST34
Regioni56 – 1249Pore sideSequence analysisAdd BLAST1194

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi144 – 214Pro-richAdd BLAST71
Compositional biasi378 – 445Ser-richAdd BLAST68
Compositional biasi751 – 947Thr-richAdd BLAST197

Domaini

Contains F-X-F-G repeats.

Sequence similaritiesi

Belongs to the POM121 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IM0V. Eukaryota.
ENOG4112BJY. LUCA.
GeneTreeiENSGT00730000110770.
HOGENOMiHOG000015364.
HOVERGENiHBG053628.
InParanoidiQ96HA1.
KOiK14316.
OMAiDSKWIRS.
OrthoDBiEOG091G04SC.
PhylomeDBiQ96HA1.
TreeFamiTF323517.

Family and domain databases

InterProiIPR026090. POM121.
[Graphical view]
PANTHERiPTHR23193:SF5. PTHR23193:SF5. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96HA1-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MSPAAAAAGA GERRRPIASV RDGRGRGCGG PARAVLLGLS LVGLLLYLVP
60 70 80 90 100
AAAALAWLTV GATAAWWGLS REPRGSRPLS SFVRKARHRR PLSSFVRKAR
110 120 130 140 150
HRRTLFASPL AKSTANGNLL EPRTLLEGPD PAELLLMGSY LGKPGPPQPA
160 170 180 190 200
AAPEGQDLRD RPGRRPPARP APRSPPPRSP PPRSPPPSPP THRAHHVYPS
210 220 230 240 250
LPTPLLRPSR RPSPRDCGTL PNRFVITPRR RYPIHQAQYS CLGVLPTVCW
260 270 280 290 300
NGYHKKAVLS PRNSRMVCSP VTVRIAPPDR RFSRSAIPEQ IISSTLSSPS
310 320 330 340 350
SNAPDPCAKE TVLSALKEKE KKRTVEEEDQ IFLDGQENKR RRHDSSGSGH
360 370 380 390 400
SAFEPLVANG VPASFVPKPG SLKRGLNSQS SDDHLNKRSR SSSMSSLTGA
410 420 430 440 450
YASGIPSSSR NAITSSYSST RGISQLWKRN GPSSSPFSSP ASSRSQTPER
460 470 480 490 500
PAKKIREEEL CHHSSSSTPL AADRESQGEK AADTTPRKKQ NSNSQSTPGS
510 520 530 540 550
SGQRKRKVQL LPSRRGEQLT LPPPPQLGYS ITAEDLDLEK KASLQWFNQA
560 570 580 590 600
LEDKSDAASN SVTETPPITQ PSFTFTLPAA APASPPTSLL APSTNPLLES
610 620 630 640 650
LKKMQTPPSL PPCPESAGAA TTEALSPPKT PSLLPPLGLS QSGPPGLLPS
660 670 680 690 700
PSFDSKPPTT LLGLIPAPSM VPATDTKAPP TLQAETATKP QATSAPSPAP
710 720 730 740 750
KQSFLFGTQN TSPSSPAAPA ASSAPPMFKP IFTAPPKSEK EGPTPPGPSV
760 770 780 790 800
TATAPSSSSL PTTTSTTAPT FQPVFSSMGP PASVPLPAPF FKQTTTPATA
810 820 830 840 850
PTTTAPLFTG LASATSAVAP ITSASPSTDS ASKPAFGFGI NSVSSSSVST
860 870 880 890 900
TTSTATAASQ PFLFGAPQAS AASFTPAMGS IFQFGKPPAL PTTTTVTTFS
910 920 930 940 950
QSLHTAVPTA TSSSAADFSG FGSTLATSAP ATSSQPTLTF SNTSTPTFNI
960 970 980 990 1000
PFGSSAKSPL PSYPGANPQP AFGAAEGQPP GAAKPALAPS FGSSFTFGNS
1010 1020 1030 1040 1050
AAPAAAPTPA PPSMIKVVPA YVPTPIHPIF GGATHSAFGL KATASAFGAP
1060 1070 1080 1090 1100
ASSQPAFGGS TAVFFGAATS SGFGATTQTA SSGSSSSVFG STTPSPFTFG
1110 1120 1130 1140 1150
GSAAPAGSGS FGINVATPGS STTTGAFSFG AGQSGSTATS TPFAGGLGQN
1160 1170 1180 1190 1200
ALGTTGQSTP FAFNVSSTTE SKPVFGGTAT PTFGLNTPAP GVGTSGSSLS
1210 1220 1230 1240
FGASSAPAQG FVGVAPFGSA ALSFSIGAGS KTPGARQRLQ ARRQHTRKK
Length:1,249
Mass (Da):127,720
Last modified:September 2, 2008 - v2
Checksum:iEDBA86CA5D658F61
GO
Isoform 2 (identifier: Q96HA1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-265: Missing.

Show »
Length:984
Mass (Da):99,037
Checksum:i36DEDB4419EEA8E6
GO
Isoform 3 (identifier: Q96HA1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-265: Missing.
     1219-1249: SAALSFSIGAGSKTPGARQRLQARRQHTRKK → NTFAHQQEHS...QASSFPTRKE

Note: No experimental confirmation available.Curated
Show »
Length:999
Mass (Da):100,864
Checksum:i73F8BEC747A1840E
GO

Sequence cautioni

The sequence BAA31593 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14097 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti689K → E in BAF85237 (PubMed:14702039).Curated1
Sequence conflicti904H → P in BAB14097 (PubMed:14702039).Curated1
Sequence conflicti971A → T in BAB14097 (PubMed:14702039).Curated1
Sequence conflicti1021Y → H in BAB14097 (PubMed:14702039).Curated1
Sequence conflicti1113I → T in BAF85237 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q96HA1-3)
Sequence conflicti985L → P in BAA31593 (PubMed:9734811).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0459051215A → G.Corresponds to variant rs3177261dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0350101 – 265Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST265
Alternative sequenceiVSP_0350111219 – 1249SAALS…HTRKK → NTFAHQQEHSPRKGPNNLSK RKLLPAVRAQGLPRRGQASS FPTRKE in isoform 3. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014518 mRNA. Translation: BAA31593.2. Different initiation.
AK022555 mRNA. Translation: BAB14097.1. Different initiation.
AK292548 mRNA. Translation: BAF85237.1.
AC005488 Genomic DNA. No translation available.
BC001518 mRNA. Translation: AAH01518.2.
BC008794 mRNA. Translation: AAH08794.1.
AB289621 mRNA. Translation: BAF80887.1.
AL080109 mRNA. Translation: CAB45713.1.
AL713666 mRNA. Translation: CAD28472.1.
CCDSiCCDS5542.1. [Q96HA1-2]
CCDS59059.1. [Q96HA1-3]
RefSeqiNP_001244119.1. NM_001257190.2. [Q96HA1-3]
NP_742017.1. NM_172020.4. [Q96HA1-2]
XP_005250783.1. XM_005250726.3. [Q96HA1-1]
XP_006716259.1. XM_006716196.3. [Q96HA1-2]
XP_016868342.1. XM_017012853.1. [Q96HA1-2]
XP_016868343.1. XM_017012854.1. [Q96HA1-2]
UniGeneiHs.655217.
Hs.737064.

Genome annotation databases

EnsembliENST00000358357; ENSP00000351124; ENSG00000196313. [Q96HA1-2]
ENST00000395270; ENSP00000378687; ENSG00000196313. [Q96HA1-3]
ENST00000434423; ENSP00000405562; ENSG00000196313. [Q96HA1-1]
ENST00000446813; ENSP00000393020; ENSG00000196313. [Q96HA1-3]
ENST00000627934; ENSP00000486504; ENSG00000196313. [Q96HA1-2]
GeneIDi9883.
KEGGihsa:9883.
UCSCiuc003twk.3. human. [Q96HA1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014518 mRNA. Translation: BAA31593.2. Different initiation.
AK022555 mRNA. Translation: BAB14097.1. Different initiation.
AK292548 mRNA. Translation: BAF85237.1.
AC005488 Genomic DNA. No translation available.
BC001518 mRNA. Translation: AAH01518.2.
BC008794 mRNA. Translation: AAH08794.1.
AB289621 mRNA. Translation: BAF80887.1.
AL080109 mRNA. Translation: CAB45713.1.
AL713666 mRNA. Translation: CAD28472.1.
CCDSiCCDS5542.1. [Q96HA1-2]
CCDS59059.1. [Q96HA1-3]
RefSeqiNP_001244119.1. NM_001257190.2. [Q96HA1-3]
NP_742017.1. NM_172020.4. [Q96HA1-2]
XP_005250783.1. XM_005250726.3. [Q96HA1-1]
XP_006716259.1. XM_006716196.3. [Q96HA1-2]
XP_016868342.1. XM_017012853.1. [Q96HA1-2]
XP_016868343.1. XM_017012854.1. [Q96HA1-2]
UniGeneiHs.655217.
Hs.737064.

3D structure databases

ProteinModelPortaliQ96HA1.
SMRiQ96HA1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115214. 56 interactors.
IntActiQ96HA1. 54 interactors.
MINTiMINT-1437396.
STRINGi9606.ENSP00000257622.

Protein family/group databases

TCDBi1.I.1.1.3. the nuclear pore complex (npc) family.

PTM databases

iPTMnetiQ96HA1.
PhosphoSitePlusiQ96HA1.

Polymorphism and mutation databases

DMDMi205829302.

Proteomic databases

EPDiQ96HA1.
MaxQBiQ96HA1.
PaxDbiQ96HA1.
PeptideAtlasiQ96HA1.
PRIDEiQ96HA1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358357; ENSP00000351124; ENSG00000196313. [Q96HA1-2]
ENST00000395270; ENSP00000378687; ENSG00000196313. [Q96HA1-3]
ENST00000434423; ENSP00000405562; ENSG00000196313. [Q96HA1-1]
ENST00000446813; ENSP00000393020; ENSG00000196313. [Q96HA1-3]
ENST00000627934; ENSP00000486504; ENSG00000196313. [Q96HA1-2]
GeneIDi9883.
KEGGihsa:9883.
UCSCiuc003twk.3. human. [Q96HA1-1]

Organism-specific databases

CTDi9883.
DisGeNETi9883.
GeneCardsiPOM121.
HGNCiHGNC:19702. POM121.
HPAiCAB003710.
HPA043809.
HPA049817.
MIMi615753. gene.
neXtProtiNX_Q96HA1.
OpenTargetsiENSG00000196313.
PharmGKBiPA134987951.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IM0V. Eukaryota.
ENOG4112BJY. LUCA.
GeneTreeiENSGT00730000110770.
HOGENOMiHOG000015364.
HOVERGENiHBG053628.
InParanoidiQ96HA1.
KOiK14316.
OMAiDSKWIRS.
OrthoDBiEOG091G04SC.
PhylomeDBiQ96HA1.
TreeFamiTF323517.

Enzyme and pathway databases

ReactomeiR-HSA-1169408. ISG15 antiviral mechanism.
R-HSA-159227. Transport of the SLBP independent Mature mRNA.
R-HSA-159230. Transport of the SLBP Dependant Mature mRNA.
R-HSA-159231. Transport of Mature mRNA Derived from an Intronless Transcript.
R-HSA-159236. Transport of Mature mRNA derived from an Intron-Containing Transcript.
R-HSA-165054. Rev-mediated nuclear export of HIV RNA.
R-HSA-168271. Transport of Ribonucleoproteins into the Host Nucleus.
R-HSA-168276. NS1 Mediated Effects on Host Pathways.
R-HSA-168325. Viral Messenger RNA Synthesis.
R-HSA-168333. NEP/NS2 Interacts with the Cellular Export Machinery.
R-HSA-170822. Regulation of Glucokinase by Glucokinase Regulatory Protein.
R-HSA-180746. Nuclear import of Rev protein.
R-HSA-180910. Vpr-mediated nuclear import of PICs.
R-HSA-191859. snRNP Assembly.
R-HSA-3108214. SUMOylation of DNA damage response and repair proteins.
R-HSA-3301854. Nuclear Pore Complex (NPC) Disassembly.
R-HSA-3371453. Regulation of HSF1-mediated heat shock response.
R-HSA-4570464. SUMOylation of RNA binding proteins.
R-HSA-4615885. SUMOylation of DNA replication proteins.
R-HSA-5578749. Transcriptional regulation by small RNAs.
R-HSA-6784531. tRNA processing in the nucleus.

Miscellaneous databases

ChiTaRSiPOM121. human.
GeneWikiiPOM121.
GenomeRNAii9883.
PROiQ96HA1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196313.
CleanExiHS_POM121.
GenevisibleiQ96HA1. HS.

Family and domain databases

InterProiIPR026090. POM121.
[Graphical view]
PANTHERiPTHR23193:SF5. PTHR23193:SF5. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiP121A_HUMAN
AccessioniPrimary (citable) accession number: Q96HA1
Secondary accession number(s): A6NFS9
, A8CDT4, A8K933, A8MXF9, O75115, Q96DI0, Q9H9X1, Q9Y2N3, Q9Y4S7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: November 30, 2016
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.