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

Gene ID: 100101267, updated on 28-Oct-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, Oct 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 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 (58) 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)

Genotypes

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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