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

Gene ID: 100101267, updated on 23-Sep-2022

Summary

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. Predicted to be located in nuclear envelope. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 18.6), testis (RPKM 15.6) and 25 other tissues See more
Orthologs
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Genomic context

See POM121C in Genome Data Viewer
Location:
7q11.23
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75416786..75486299, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76704066..76773584, complement)
105.20220307 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 tripartite motif containing 73 Neighboring gene uncharacterized LOC124901676 Neighboring gene NSUN5 pseudogene 1 Neighboring gene 7q11.23 proximal recombination region Neighboring gene speedy/RINGO cell cycle regulator family member E5 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 5953

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
Process Evidence Code Pubs
involved_in RNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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_001099415.3NP_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
    A0A087WY75, B4DDR5, B4DET5
    Related
    ENSP00000481575.1, ENST00000615331.5
    Conserved Domains (1) summary
    pfam15229
    Location:52287
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)