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Entry version 143 (10 Apr 2019)
Sequence version 2 (02 Sep 2008)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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-3232142 SUMOylation of ubiquitinylation proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4085377 SUMOylation of SUMOylation proteins
R-HSA-4551638 SUMOylation of chromatin organization proteins
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

Transport Classification Database

More...
TCDBi
1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:POM121
Synonyms:KIAA0618, NUP121, POM121A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000196313.11

Human Gene Nomenclature Database

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HGNCi
HGNC:19702 POM121

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615753 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96HA1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei35 – 55HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nuclear pore complex, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
9883

Open Targets

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OpenTargetsi
ENSG00000196313

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134987951

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
POM121

Domain mapping of disease mutations (DMDM)

More...
DMDMi
205829302

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003467731 – 1249Nuclear envelope pore membrane protein POM 121Add BLAST1249

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei94PhosphoserineBy similarity1
Modified residuei345PhosphoserineBy similarity1
Modified residuei351PhosphoserineCombined sources1
Modified residuei371PhosphoserineCombined sources1
Modified residuei393PhosphoserineBy similarity1
Modified residuei396PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96HA1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96HA1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96HA1

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96HA1

PeptideAtlas

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PeptideAtlasi
Q96HA1

PRoteomics IDEntifications database

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PRIDEi
Q96HA1

ProteomicsDB human proteome resource

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ProteomicsDBi
76715
76716 [Q96HA1-2]
76717 [Q96HA1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96HA1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96HA1

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q96HA1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000196313 Expressed in 173 organ(s), highest expression level in omental fat pad

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96HA1 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB003710
HPA043809
HPA049817

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115214, 78 interactors

Protein interaction database and analysis system

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IntActi
Q96HA1, 61 interactors

Molecular INTeraction database

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MINTi
Q96HA1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000378687

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5T6WX-ray1.90C418-427[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96HA1

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96HA1

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi144 – 214Pro-richAdd BLAST71
Compositional biasi378 – 445Ser-richAdd BLAST68
Compositional biasi751 – 947Thr-richAdd BLAST197

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Contains F-X-F-G repeats.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the POM121 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IM0V Eukaryota
ENOG4112BJY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153253

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000015364

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053628

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96HA1

KEGG Orthology (KO)

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KOi
K14316

Identification of Orthologs from Complete Genome Data

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OMAi
DSKWIRS

Database of Orthologous Groups

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OrthoDBi
355024at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96HA1

TreeFam database of animal gene trees

More...
TreeFami
TF323517

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026054 Nucleoporin
IPR026090 POM121

The PANTHER Classification System

More...
PANTHERi
PTHR23193 PTHR23193, 1 hit
PTHR23193:SF5 PTHR23193:SF5, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0459051215A → G. Corresponds to variant dbSNP:rs3177261Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS5542.1 [Q96HA1-2]
CCDS59059.1 [Q96HA1-3]

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.655217
Hs.737064

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358357; ENSP00000351124; ENSG00000196313 [Q96HA1-2]
ENST00000395270; ENSP00000378687; ENSG00000196313 [Q96HA1-3]
ENST00000434423; ENSP00000405562; ENSG00000196313 [Q96HA1-1]
ENST00000446813; ENSP00000393020; ENSG00000196313 [Q96HA1-3]
ENST00000627934; ENSP00000486504; ENSG00000196313 [Q96HA1-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9883

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9883

UCSC genome browser

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UCSCi
uc003twk.3 human [Q96HA1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5T6WX-ray1.90C418-427[»]
ProteinModelPortaliQ96HA1
SMRiQ96HA1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115214, 78 interactors
IntActiQ96HA1, 61 interactors
MINTiQ96HA1
STRINGi9606.ENSP00000378687

Protein family/group databases

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

PTM databases

iPTMnetiQ96HA1
PhosphoSitePlusiQ96HA1
SwissPalmiQ96HA1

Polymorphism and mutation databases

BioMutaiPOM121
DMDMi205829302

Proteomic databases

EPDiQ96HA1
jPOSTiQ96HA1
MaxQBiQ96HA1
PaxDbiQ96HA1
PeptideAtlasiQ96HA1
PRIDEiQ96HA1
ProteomicsDBi76715
76716 [Q96HA1-2]
76717 [Q96HA1-3]

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

Comparative Toxicogenomics Database

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CTDi
9883
DisGeNETi9883
EuPathDBiHostDB:ENSG00000196313.11

GeneCards: human genes, protein and diseases

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GeneCardsi
POM121
HGNCiHGNC:19702 POM121
HPAiCAB003710
HPA043809
HPA049817
MIMi615753 gene
neXtProtiNX_Q96HA1
OpenTargetsiENSG00000196313
PharmGKBiPA134987951

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IM0V Eukaryota
ENOG4112BJY LUCA
GeneTreeiENSGT00940000153253
HOGENOMiHOG000015364
HOVERGENiHBG053628
InParanoidiQ96HA1
KOiK14316
OMAiDSKWIRS
OrthoDBi355024at2759
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-3232142 SUMOylation of ubiquitinylation proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4085377 SUMOylation of SUMOylation proteins
R-HSA-4551638 SUMOylation of chromatin organization proteins
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
POM121 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
POM121

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9883

Protein Ontology

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PROi
PR:Q96HA1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196313 Expressed in 173 organ(s), highest expression level in omental fat pad
GenevisibleiQ96HA1 HS

Family and domain databases

InterProiView protein in InterPro
IPR026054 Nucleoporin
IPR026090 POM121
PANTHERiPTHR23193 PTHR23193, 1 hit
PTHR23193:SF5 PTHR23193:SF5, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiP121A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96HA1
Secondary accession number(s): A6NFS9
, A8CDT4, A8K933, A8MXF9, O75115, Q96DI0, Q9H9X1, Q9Y2N3, Q9Y4S7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: April 10, 2019
This is version 143 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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