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Aliases for POM121 Gene

Aliases for POM121 Gene

  • POM121 Transmembrane Nucleoporin 2 3 5
  • Nuclear Envelope Pore Membrane Protein POM 121A 3 4
  • POM121 Membrane Glycoprotein 2 3
  • Nucleoporin Nup121 3 4
  • POM121A 3 4
  • Nuclear Envelope Pore Membrane Protein POM 121 3
  • Nuclear Pore Membrane Protein 121 KDa 3
  • POM121 Membrane Glycoprotein (Rat) 2
  • Pore Membrane Protein Of 121 KDa 4
  • KIAA0618 4
  • NUP121 4
  • P145 3

External Ids for POM121 Gene

Previous GeneCards Identifiers for POM121 Gene

  • GC07P070990
  • GC07P071750
  • GC07P071762
  • GC07P071794
  • GC07P071987
  • GC07P072349
  • GC07M070166

Summaries for POM121 Gene

Entrez Gene Summary for POM121 Gene

  • This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]

GeneCards Summary for POM121 Gene

POM121 (POM121 Transmembrane Nucleoporin) is a Protein Coding gene. Among its related pathways are HIV Life Cycle and Transport of the SLBP independent Mature mRNA. An important paralog of this gene is POM121C.

UniProtKB/Swiss-Prot for POM121 Gene

  • 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).

Gene Wiki entry for POM121 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POM121 Gene

Genomics for POM121 Gene

Regulatory Elements for POM121 Gene

Enhancers for POM121 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G072827 1.4 ENCODE dbSUPER 29.7 -49.8 -49770 4.1 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 TYW1B POM121 POM121B GTF2IRD2P1 BUD23 BAZ1B GTF2IP4 SBDSP1 PIR36920
GH07G073645 1.5 FANTOM5 Ensembl ENCODE 24.1 +767.6 767578 3.7 MLX ARID4B ZNF48 YY1 SLC30A9 GLIS2 ZNF263 SP3 SP5 MXD4 MIR590 POM121 GTF2IRD2P1 METTL27 BAZ1B VPS37D BUD23 DNAJC30 POM121B MLXIPL
GH07G073715 1.7 FANTOM5 ENCODE dbSUPER 19.7 +838.2 838199 4.9 FOXA2 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 ZNF766 ZNF207 FOS KLF13 POM121 MIR590 POM121B VPS37D TBL2 BCL7B LAT2 STX1A MIR4284
GH07G073682 1.1 ENCODE 28.2 +804.0 804003 2.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3 POM121 MIR590 POM121B RFC2 ABHD11-AS1 DNAJC30 VPS37D BUD23
GH07G073518 1.1 ENCODE 11.6 +641.7 641685 4.5 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 BAZ1B TBL2 MLXIPL BCL7B GTF2IRD2P1 BUD23 POM121B POM121 MIR590 TYW1B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POM121 on UCSC Golden Path with GeneCards custom track

Promoters for POM121 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213388 365 1801 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF143 KLF13

Genomic Location for POM121 Gene

Chromosome:
7
Start:
72,879,335 bp from pter
End:
72,951,440 bp from pter
Size:
72,106 bases
Orientation:
Plus strand

Genomic View for POM121 Gene

Genes around POM121 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POM121 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POM121 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POM121 Gene

Proteins for POM121 Gene

  • Protein details for POM121 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HA1-P121A_HUMAN
    Recommended name:
    Nuclear envelope pore membrane protein POM 121
    Protein Accession:
    Q96HA1
    Secondary Accessions:
    • A6NFS9
    • A8CDT4
    • A8K933
    • A8MXF9
    • O75115
    • Q96DI0
    • Q9H9X1
    • Q9Y2N3
    • Q9Y4S7

    Protein attributes for POM121 Gene

    Size:
    1249 amino acids
    Molecular mass:
    127720 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31593.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14097.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for POM121 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POM121 Gene

Post-translational modifications for POM121 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POM121 Gene

Domains & Families for POM121 Gene

Gene Families for POM121 Gene

Protein Domains for POM121 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POM121 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HA1

UniProtKB/Swiss-Prot:

P121A_HUMAN :
  • Contains F-X-F-G repeats.
  • Belongs to the POM121 family.
Domain:
  • Contains F-X-F-G repeats.
Family:
  • Belongs to the POM121 family.
genes like me logo Genes that share domains with POM121: view

Function for POM121 Gene

Molecular function for POM121 Gene

UniProtKB/Swiss-Prot Function:
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).

Gene Ontology (GO) - Molecular Function for POM121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005487 nucleocytoplasmic transporter activity IBA --
GO:0005515 protein binding IPI 16189514
GO:0008139 nuclear localization sequence binding IBA --
GO:0017056 structural constituent of nuclear pore IBA --
genes like me logo Genes that share ontologies with POM121: view
genes like me logo Genes that share phenotypes with POM121: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POM121 Gene

Localization for POM121 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POM121 Gene

Nucleus, nuclear pore complex. Nucleus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Stably associated with the NPC throughout interphase and the endoplasmic reticulum during metaphase. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POM121 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 3
cytosol 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POM121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA --
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with POM121: view

Pathways & Interactions for POM121 Gene

SuperPathways for POM121 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with POM121: view

Pathways by source for POM121 Gene

Gene Ontology (GO) - Biological Process for POM121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006405 RNA export from nucleus IBA --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA --
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with POM121: view

No data available for SIGNOR curated interactions for POM121 Gene

Drugs & Compounds for POM121 Gene

No Compound Related Data Available

Transcripts for POM121 Gene

Unigene Clusters for POM121 Gene

POM121 transmembrane nucleoporin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for POM121 Gene

No ASD Table

Relevant External Links for POM121 Gene

GeneLoc Exon Structure for
POM121
ECgene alternative splicing isoforms for
POM121

Expression for POM121 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POM121 Gene

Protein differential expression in normal tissues from HIPED for POM121 Gene

This gene is overexpressed in Adipocyte (25.6), Placenta (18.9), Peripheral blood mononuclear cells (13.5), and Islet of Langerhans (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POM121 Gene



Protein tissue co-expression partners for POM121 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POM121 Gene:

POM121

SOURCE GeneReport for Unigene cluster for POM121 Gene:

Hs.655217

Evidence on tissue expression from TISSUES for POM121 Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Intestine(2.9)
  • Lung(2.4)
  • Pancreas(2.4)
genes like me logo Genes that share expression patterns with POM121: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POM121 Gene

Orthologs for POM121 Gene

This gene was present in the common ancestor of chordates.

Orthologs for POM121 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POM121 34
  • 98.39 (n)
-- 35
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia POM121C 34
  • 78.69 (n)
-- 35
  • 55 (a)
OneToMany
dog
(Canis familiaris)
Mammalia POM121C 34
  • 78.16 (n)
-- 35
  • 46 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pom121 34
  • 74.76 (n)
mouse
(Mus musculus)
Mammalia Pom121 34 35
  • 74.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 41 (a)
OneToMany
chicken
(Gallus gallus)
Aves POM121 34
  • 60.01 (n)
-- 35
  • 43 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pom121 35
  • 24 (a)
OneToMany
Species where no ortholog for POM121 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POM121 Gene

ENSEMBL:
Gene Tree for POM121 (if available)
TreeFam:
Gene Tree for POM121 (if available)

Paralogs for POM121 Gene

(4) SIMAP similar genes for POM121 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for POM121 Gene

genes like me logo Genes that share paralogs with POM121: view

Variants for POM121 Gene

Sequence variations from dbSNP and Humsavar for POM121 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10226353 -- 72,903,124(+) AAAAA(A/G)AAAAA intron-variant
rs10231271 -- 72,893,994(+) CGGCC(A/G)GGCAT intron-variant
rs10263660 -- 72,897,808(+) ttgag(C/T)ccagg intron-variant
rs10263853 -- 72,897,807(+) cttga(G/T)cccag intron-variant
rs1044509 -- 72,947,868(+) GAGGG(C/T)GAGTG intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for POM121 Gene

Variant ID Type Subtype PubMed ID
dgv6460n100 CNV gain 25217958
dgv6462n100 CNV gain 25217958
dgv6464n100 CNV gain 25217958
esv1311182 CNV deletion 17803354
esv2759537 CNV gain+loss 17122850
esv2764061 CNV gain+loss 21179565
esv34349 CNV gain 17911159
esv3571919 CNV loss 25503493
esv3571921 CNV loss 25503493
esv3613677 CNV gain 21293372
esv3613678 CNV loss 21293372
nsv1017637 CNV loss 25217958
nsv1018175 CNV gain 25217958
nsv1018460 CNV gain+loss 25217958
nsv1023115 CNV gain 25217958
nsv1029162 CNV loss 25217958
nsv1030447 CNV loss 25217958
nsv1161563 CNV deletion 26073780
nsv428171 CNV gain 18775914
nsv469664 CNV loss 16826518
nsv469793 CNV gain 16826518
nsv520573 CNV gain+loss 19592680
nsv8134 CNV loss 18304495
nsv950544 CNV deletion 24416366
nsv981523 CNV duplication 23825009

Variation tolerance for POM121 Gene

Residual Variation Intolerance Score: 95.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.16; 69.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POM121 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POM121

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POM121 Gene

Disorders for POM121 Gene

Relevant External Links for POM121

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POM121

No disorders were found for POM121 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POM121 Gene

Publications for POM121 Gene

  1. Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes. (PMID: 17900573) Funakoshi T. … Imamoto N. (FEBS Lett. 2007) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  3. Recruitment of functionally distinct membrane proteins to chromatin mediates nuclear envelope formation in vivo. (PMID: 19620630) Anderson D.J. … Hetzer M.W. (J. Cell Biol. 2009) 3 22 64
  4. The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. (PMID: 19782045) Kind B. … Huebner A. (Biochem. Biophys. Res. Commun. 2009) 3 22 64
  5. Capture of AT-rich chromatin by ELYS recruits POM121 and NDC1 to initiate nuclear pore assembly. (PMID: 18596237) Rasala B.A. … Forbes D.J. (Mol. Biol. Cell 2008) 3 22 64

Products for POM121 Gene

Sources for POM121 Gene

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