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POM121 POM121 transmembrane nucleoporin [ Homo sapiens (human) ]

Gene ID: 9883, updated on 1-Jun-2020

Summary

Official Symbol
POM121provided by HGNC
Official Full Name
POM121 transmembrane nucleoporinprovided by HGNC
Primary source
HGNC:HGNC:19702
See related
Ensembl:ENSG00000196313 MIM:615753
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P145; POM121A
Summary
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]
Annotation information
Note: POM121 (Gene ID: 9883) and POMZP3 (Gene ID: 22832) share the POM121 symbol/alias in common. POM121 is sometimes used as an alternative name for POM121 and ZP3 fusion, which can be confused with the official symbol for POM121 transmembrane nucleoporin (POM121). [05 Jul 2018]
Expression
Ubiquitous expression in bone marrow (RPKM 16.6), spleen (RPKM 15.4) and 25 other tissues See more
Orthologs

Genomic context

See POM121 in Genome Data Viewer
Location:
7q11.23
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (72879335..72951459)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72349906..72421979)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 625, pseudogene Neighboring gene speedy/RINGO cell cycle regulator family member E7, pseudogene Neighboring gene NSUN5 pseudogene 2 Neighboring gene tripartite motif containing 74 Neighboring gene FKBP prolyl isomerase 6 pseudogene Neighboring gene stromal antigen 3-like 3 (pseudogene)

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3792, FLJ41820, KIAA0618, DKFZp586G1822, DKFZp586P2220

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
RNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular transport of virus TAS
Traceable Author Statement
more info
 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation TAS
Traceable Author Statement
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of gene silencing by miRNA TAS
Traceable Author Statement
more info
 
regulation of glycolytic process TAS
Traceable Author Statement
more info
 
tRNA export from nucleus TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
viral transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
host cell IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
nuclear envelope pore membrane protein POM 121
Names
POM121 membrane glycoprotein
nuclear envelope pore membrane protein POM 121A
nuclear pore membrane protein 121 kDa
nucleoporin Nup121

NCBI Reference Sequences (RefSeq)

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_001257190.3NP_001244119.1  nuclear envelope pore membrane protein POM 121 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB014518, AC211476, BC001518, BG831530, BI544820, DC361358
    Consensus CDS
    CCDS59059.1
    UniProtKB/Swiss-Prot
    Q96HA1
    Related
    ENSP00000378687.1, ENST00000395270.5
    Conserved Domains (1) summary
    pfam15229
    Location:56287
    POM121; POM121 family
  2. NM_001367610.1NP_001354539.1  nuclear envelope pore membrane protein POM 121 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
  3. NM_172020.4NP_742017.1  nuclear envelope pore membrane protein POM 121 isoform 2

    See identical proteins and their annotated locations for NP_742017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 3' UTR, and includes an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB014518, AL080109, BC008794, CD370328
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    Q96HA1
    Related
    ENSP00000486504.1, ENST00000627934.2
    Conserved Domains (3) summary
    pfam15229
    Location:56287
    POM121; POM121 family
    cl25599
    Location:830968
    Nucleoporin_FG2; Nucleoporin FG repeated region
    cl26464
    Location:362725
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    72879335..72951459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716196.3XP_006716259.1  nuclear envelope pore membrane protein POM 121 isoform X4

    See identical proteins and their annotated locations for XP_006716259.1

    UniProtKB/Swiss-Prot
    Q96HA1
    Conserved Domains (3) summary
    pfam15229
    Location:56287
    POM121; POM121 family
    cl25599
    Location:830968
    Nucleoporin_FG2; Nucleoporin FG repeated region
    cl26464
    Location:362725
    Atrophin-1; Atrophin-1 family
  2. XM_017012853.2XP_016868342.1  nuclear envelope pore membrane protein POM 121 isoform X4

    UniProtKB/Swiss-Prot
    Q96HA1
    Conserved Domains (3) summary
    pfam15229
    Location:56287
    POM121; POM121 family
    cl25599
    Location:830968
    Nucleoporin_FG2; Nucleoporin FG repeated region
    cl26464
    Location:362725
    Atrophin-1; Atrophin-1 family
  3. XM_017012854.2XP_016868343.1  nuclear envelope pore membrane protein POM 121 isoform X4

    UniProtKB/Swiss-Prot
    Q96HA1
    Conserved Domains (3) summary
    pfam15229
    Location:56287
    POM121; POM121 family
    cl25599
    Location:830968
    Nucleoporin_FG2; Nucleoporin FG repeated region
    cl26464
    Location:362725
    Atrophin-1; Atrophin-1 family
  4. XM_005250726.4XP_005250783.1  nuclear envelope pore membrane protein POM 121 isoform X1

    See identical proteins and their annotated locations for XP_005250783.1

    UniProtKB/Swiss-Prot
    Q96HA1
    Related
    ENSP00000405562.2, ENST00000434423.4
    Conserved Domains (1) summary
    pfam15229
    Location:321552
    POM121; POM121 family
  5. XM_005250727.4XP_005250784.1  nuclear envelope pore membrane protein POM 121 isoform X2

    Conserved Domains (1) summary
    pfam15229
    Location:321552
    POM121; POM121 family
  6. XM_011516730.2XP_011515032.1  nuclear envelope pore membrane protein POM 121 isoform X3

    Conserved Domains (1) summary
    pfam15229
    Location:321456
    POM121; POM121 family
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