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    POM121C POM121 transmembrane nucleoporin C [ Homo sapiens (human) ]

    Gene ID: 100101267, updated on 27-Nov-2024

    Summary

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    Official Symbol
    POM121Cprovided by HGNC
    Official Full Name
    POM121 transmembrane nucleoporin Cprovided by HGNC
    Primary source
    HGNC:HGNC:34005
    See related
    Ensembl:ENSG00000272391 MIM:615754; AllianceGenome:HGNC:34005
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POM121-2
    Summary
    Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 18.6), testis (RPKM 15.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POM121C in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75416786..75486299, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76704066..76773584, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75046065..75115576, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75024300-75024907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75024908-75025514 Neighboring gene tripartite motif containing 73 Neighboring gene uncharacterized LOC124901676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75039418-75040358 Neighboring gene NSUN5 pseudogene 1 Neighboring gene 7q11.23 proximal recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75083199-75083700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75115301-75115800 Neighboring gene speedy/RINGO cell cycle regulator family member E5 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18297 Neighboring gene Sharpr-MPRA regulatory region 5953

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. FAM13A and POM121C are candidate genes for fasting insulin: functional follow-up analysis of a genome-wide association study. Lundbäck V, et al. Diabetologia, 2018 May. PMID 29487953, Free PMC Article
    2. Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes. Funakoshi T, et al. FEBS Lett, 2007 Oct 16. PMID 17900573
    3. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013
    4. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. DeSilva U, et al. Genome Res, 2002 Jan. PMID 11779826, Free PMC Article
    5. The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing. Miele A, et al. J Cell Biochem, 2007 Sep 1. PMID 17577209

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43877, FLJ45082, MGC163459, MGC163461, DKFZp586P2220, DKFZp779K1713

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear localization sequence binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    nuclear envelope pore membrane protein POM 121C
    Names
    POM121 membrane glycoprotein C
    nuclear pore membrane protein 121-2
    pore membrane protein of 121 kDa C

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001099415.3 → NP_001092885.2  nuclear envelope pore membrane protein POM 121C

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC211429, AI039602, AK293305, AK293781, BC082993, HY087675
      Consensus CDS
      CCDS47617.1
      UniProtKB/TrEMBL
      B4DET5
      Related
      ENSP00000481575.1, ENST00000615331.5
      Conserved Domains (1) summary
      pfam15229
      Location:52 → 287
      POM121; POM121 family

    RNA

    1. NR_160303.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC211429

    2. NR_160304.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC211429

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      75416786..75486299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      76704066..76773584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8CG34.3 GenPept UniProtKB/Swiss-Prot:A8CG34

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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