Aliases for POM121C Gene

Aliases for POM121C Gene

  • POM121 Transmembrane Nucleoporin C 2 3 5
  • Nuclear Envelope Pore Membrane Protein POM 121C 3 4
  • Nuclear Pore Membrane Protein 121-2 3 4
  • Pore Membrane Protein Of 121 KDa C 3 4
  • POM121 Membrane Glycoprotein C 2 3
  • POM121-2 3 4
  • POM121C 5

External Ids for POM121C Gene

Previous GeneCards Identifiers for POM121C Gene

  • GC07M074884
  • GC07M075046
  • GC07M071202

Summaries for POM121C Gene

GeneCards Summary for POM121C Gene

POM121C (POM121 Transmembrane Nucleoporin C) is a Protein Coding gene. Diseases associated with POM121C include Williams-Beuren Syndrome. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. An important paralog of this gene is POM121.

UniProtKB/Swiss-Prot Summary for POM121C 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).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POM121C Gene

Genomics for POM121C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POM121C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POM121C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POM121C

Top Transcription factor binding sites by QIAGEN in the POM121C gene promoter:
  • AML1a
  • E47
  • Evi-1
  • Hand1
  • PPAR-gamma1
  • PPAR-gamma2
  • RFX1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for POM121C Gene

Latest Assembly
chr7:75,416,786-75,486,299
(GRCh38/hg38)
Size:
69,514 bases
Orientation:
Minus strand

Previous Assembly
chr7:75,046,065-75,115,576
(GRCh37/hg19 by Entrez Gene)
Size:
69,512 bases
Orientation:
Minus strand

Genomic View for POM121C Gene

Genes around POM121C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POM121C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POM121C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POM121C Gene

Proteins for POM121C Gene

  • Protein details for POM121C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8CG34-P121C_HUMAN
    Recommended name:
    Nuclear envelope pore membrane protein POM 121C
    Protein Accession:
    A8CG34
    Secondary Accessions:
    • A0A075B7F8
    • A0A087WY75
    • O75115
    • Q9Y2N3
    • Q9Y4S7

    Protein attributes for POM121C Gene

    Size:
    1229 amino acids
    Molecular mass:
    125092 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for POM121C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POM121C Gene

Post-translational modifications for POM121C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POM121C Gene

No data available for DME Specific Peptides for POM121C Gene

Domains & Families for POM121C Gene

Gene Families for POM121C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POM121C Gene

InterPro:

Suggested Antigen Peptide Sequences for POM121C Gene

GenScript: Design optimal peptide antigens:
  • POM121C protein (A1L4L9_HUMAN)
  • Pore membrane protein of 121 kDa C (P121C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A8CG34

UniProtKB/Swiss-Prot:

P121C_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 POM121C: view

Function for POM121C Gene

Molecular function for POM121C 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).

Phenotypes From GWAS Catalog for POM121C Gene

Gene Ontology (GO) - Molecular Function for POM121C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17577209
GO:0008139 nuclear localization sequence binding IBA 21873635
GO:0017056 structural constituent of nuclear pore IBA 21873635
genes like me logo Genes that share ontologies with POM121C: view
genes like me logo Genes that share phenotypes with POM121C: view

Animal Models for POM121C Gene

MGI Knock Outs for POM121C:
  • Pom121 Pom121<tm1b(EUCOMM)Wtsi>

miRNA for POM121C Gene

miRTarBase miRNAs that target POM121C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POM121C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POM121C Gene

Localization for POM121C Gene

Subcellular locations from UniProtKB/Swiss-Prot for POM121C 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 POM121C gene
Compartment Confidence
nucleus 5
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POM121C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with POM121C: view

Pathways & Interactions for POM121C Gene

PathCards logo

SuperPathways for POM121C 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 POM121C: view

Gene Ontology (GO) - Biological Process for POM121C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006405 RNA export from nucleus IBA 21873635
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA 21873635
genes like me logo Genes that share ontologies with POM121C: view

No data available for SIGNOR curated interactions for POM121C Gene

Drugs & Compounds for POM121C Gene

No Compound Related Data Available

Transcripts for POM121C Gene

mRNA/cDNA for POM121C Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POM121C

Alternative Splicing Database (ASD) splice patterns (SP) for POM121C Gene

No ASD Table

Relevant External Links for POM121C Gene

GeneLoc Exon Structure for
POM121C

Expression for POM121C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POM121C Gene

Protein differential expression in normal tissues from HIPED for POM121C Gene

This gene is overexpressed in Placenta (24.2), Fetal ovary (24.1), CD4 Tcells (12.6), and Islet of Langerhans (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POM121C Gene



Protein tissue co-expression partners for POM121C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POM121C

SOURCE GeneReport for Unigene cluster for POM121C Gene:

Hs.712563

Evidence on tissue expression from TISSUES for POM121C Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with POM121C: view

Primer products for research

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 POM121C Gene

Orthologs for POM121C Gene

This gene was present in the common ancestor of chordates.

Orthologs for POM121C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POM121 29
  • 97.65 (n)
Cow
(Bos Taurus)
Mammalia POM121C 29
  • 79.09 (n)
Dog
(Canis familiaris)
Mammalia POM121C 29
  • 78.17 (n)
Rat
(Rattus norvegicus)
Mammalia Pom121 29
  • 74.82 (n)
Mouse
(Mus musculus)
Mammalia Pom121 29 16
  • 74.63 (n)
Chicken
(Gallus gallus)
Aves POM121 29
  • 59.74 (n)
Species where no ortholog for POM121C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Zebrafish (Danio rerio)

Evolution for POM121C Gene

ENSEMBL:
Gene Tree for POM121C (if available)
TreeFam:
Gene Tree for POM121C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POM121C: view image
Alliance of Genome Resources:
Additional Orthologs for POM121C

Paralogs for POM121C Gene

Paralogs for POM121C Gene

(299) SIMAP similar genes for POM121C Gene using alignment to 4 proteins:

  • P121C_HUMAN
  • A1L4L9_HUMAN
  • A8MY32_HUMAN
  • C9JFL1_HUMAN
genes like me logo Genes that share paralogs with POM121C: view

Variants for POM121C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POM121C Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs189506230 Likely Benign: not provided 75,437,594(-) C/T
NM_001099415.3(POM121C):c.401G>A (p.Gly134Asp)
MISSENSE
rs236655 Likely Benign: not provided 75,418,889(-) C/T
NM_001099415.3(POM121C):c.2871G>A (p.Ser957=)
SYNONYMOUS
rs372291559 Benign: not provided 75,426,451(-) C/G
NM_001099415.3(POM121C):c.483G>C (p.Leu161=)
SYNONYMOUS
rs416185 Benign: not provided 75,424,148(-) T/G
NM_001099415.3(POM121C):c.949A>C (p.Thr317Pro)
MISSENSE
rs365436 -- p.Gln1165Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POM121C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POM121C Gene

Variant ID Type Subtype PubMed ID
dgv120n16 CNV deletion 17901297
esv21917 CNV gain 19812545
esv3613722 CNV loss 21293372
nsv1076626 CNV duplication 25765185
nsv1119225 CNV duplication 24896259
nsv365453 CNV deletion 16902084
nsv511367 CNV loss 21212237
nsv528969 CNV gain 19592680
nsv8156 CNV loss 18304495
nsv831035 CNV loss 17160897
nsv981535 CNV duplication 23825009

Variation tolerance for POM121C Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.20; 90.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POM121C Gene

Human Gene Mutation Database (HGMD)
POM121C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POM121C
Leiden Open Variation Database (LOVD)
POM121C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POM121C Gene

Disorders for POM121C Gene

MalaCards: The human disease database

(1) MalaCards diseases for POM121C Gene - From: COP and GCD

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POM121C

genes like me logo Genes that share disorders with POM121C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POM121C Gene

Publications for POM121C Gene

  1. Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes. (PMID: 17900573) Funakoshi T … Imamoto N (FEBS letters 2007) 2 3 4
  2. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3
  3. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3
  4. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3
  5. Spatial proteomics reveal that the protein phosphatase PTP1B interacts with and may modify tyrosine phosphorylation of the rhomboid protease RHBDL4. (PMID: 31177093) Ikeda KN … Freeman M (The Journal of biological chemistry 2019) 3

Products for POM121C Gene

Sources for POM121C Gene