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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 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 Gene Expression and Metabolism. An important paralog of this gene is LOC102724728.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POM121 Gene

Genomics for POM121 Gene

Regulatory Elements for POM121 Gene

Promoters for POM121 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POM121 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for POM121 Gene at MOPED

Post-translational modifications for POM121 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POM121 Gene

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).
genes like me logo Genes that share phenotypes with POM121: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for POM121 Gene COMPARTMENTS Subcellular localization image for POM121 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POM121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with POM121: view

Pathways & Interactions for POM121 Gene

SuperPathways for POM121 Gene

Superpath Contained pathways
1 Regulation of Glucokinase by Glucokinase Regulatory Protein
2 Infectious disease
.48
3 SUMOylation
4 Mitotic Prophase
5 Cell Cycle, Mitotic
.61
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:0005975 carbohydrate metabolic process TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0008033 tRNA processing TAS --
GO:0008645 hexose transport TAS --
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:

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 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, MOPED, and MaxQB for POM121 Gene



SOURCE GeneReport for Unigene cluster for POM121 Gene Hs.655217

genes like me logo Genes that share expression patterns with POM121: view

Protein tissue co-expression partners for POM121 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia POM121C 35
  • 78.69 (n)
  • 73.78 (a)
-- 36
  • 55 (a)
OneToMany
dog
(Canis familiaris)
Mammalia POM121C 35
  • 78.16 (n)
  • 73.82 (a)
-- 36
  • 46 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pom121 35
  • 74.53 (n)
  • 69.21 (a)
Pom121 36
  • 52 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia POM121 35
  • 98.39 (n)
  • 97.03 (a)
-- 36
  • 75 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pom121 35
  • 74.76 (n)
  • 68.74 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 41 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves POM121 35
  • 60.01 (n)
  • 52.9 (a)
-- 36
  • 43 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pom121 36
  • 24 (a)
OneToMany
Species with no ortholog for POM121:
  • 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
rs3177261 - 72,945,700(+) TGTTG(C/G/T)ACCTT reference, missense
rs236653 -- 72,946,663(-) CTTTA(C/G)GGATA intron-variant, utr-variant-3-prime
rs236654 -- 72,946,657(+) ATGGG(C/T)TATCC intron-variant, utr-variant-3-prime
rs237926 -- 72,907,499(-) aTCCA(A/C/G)AAAGA intron-variant
rs237927 -- 72,911,703(-) CCCAA(C/T)AGTCC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2094e1 CNV Complex 17122850
dgv2095e1 CNV Complex 17122850
nsv520573 CNV Gain+Loss 19592680
esv34349 CNV Gain 17911159
dgv2097e1 CNV Complex 17122850
dgv2098e1 CNV Complex 17122850
nsv428171 CNV Gain 18775914
dgv2099e1 CNV Complex 17122850
nsv469793 CNV Gain 16826518
nsv888362 CNV Gain 21882294
esv1311182 CNV Deletion 17803354
nsv469664 CNV Loss 16826518
nsv888363 CNV Gain+Loss 21882294
nsv8134 CNV Loss 18304495

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

HapMap Linkage Disequilibrium report
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 67
  2. 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 23
  3. 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 23
  4. 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 23
  5. 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

Products for POM121 Gene

Sources for POM121 Gene

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