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POM121 POM121 transmembrane nucleoporin [ Homo sapiens (human) ]

Gene ID: 9883, updated on 3-Nov-2024

Summary

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Official Symbol
POM121provided by HGNC
Official Full Name
POM121 transmembrane nucleoporinprovided by HGNC
Primary source
HGNC:HGNC:19702
See related
Ensembl:ENSG00000196313 MIM:615753; AllianceGenome:HGNC:19702
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
all
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Genomic context

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See POM121 in Genome Data Viewer
Location:
7q11.23
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (72879357..72951459)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74107626..74179689)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72349928..72421998)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 625, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:72339695-72339882 Neighboring gene speedy/RINGO cell cycle regulator family member E7, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72349748-72350248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72395219-72395780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72395781-72396341 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:72396775-72397974 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:72404605-72404795 Neighboring gene uncharacterized LOC124901671 Neighboring gene NSUN5 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72431501-72432053 Neighboring gene tripartite motif containing 74 Neighboring gene FKBP6 pseudogene 1

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. Recruitment of functionally distinct membrane proteins to chromatin mediates nuclear envelope formation in vivo. Anderson DJ, et al. J Cell Biol, 2009 Jul 27. PMID 19620630, Free PMC Article
  2. POM121 overexpression is related to a poor prognosis in colorectal cancer. Wang T, et al. Expert Rev Mol Diagn, 2020 Mar. PMID 31858845
  3. POM121 is a novel marker for predicting the prognosis of laryngeal cancer. Zhao R, et al. Histol Histopathol, 2020 Nov. PMID 33016327
  4. Clinical Significance of POM121 Expression in Lung Cancer. Zhang S, et al. Genet Test Mol Biomarkers, 2020 Dec. PMID 33296260
  5. Nuclear Pores Promote Lethal Prostate Cancer by Increasing POM121-Driven E2F1, MYC, and AR Nuclear Import. Rodriguez-Bravo V, et al. Cell, 2018 Aug 23. PMID 30100187, Free PMC Article

See all (78) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nuclear pore protein POM121 regulates subcellular localization and transcriptional activity of PPARgamma.
    Title: Nuclear pore protein POM121 regulates subcellular localization and transcriptional activity of PPARγ.
  2. Up-regulation of POM121 is linked to prostate cancer aggressiveness and serves as a prognostic biomarker.
    Title: Up-regulation of POM121 is linked to prostate cancer aggressiveness and serves as a prognostic biomarker.
  3. POM121 is a novel marker for predicting the prognosis of laryngeal cancer.
    Title: POM121 is a novel marker for predicting the prognosis of laryngeal cancer.
  4. Clinical Significance of POM121 Expression in Lung Cancer.
    Title: Clinical Significance of POM121 Expression in Lung Cancer.
  5. POM121 overexpression is related to a poor prognosis in colorectal cancer.
    Title: POM121 overexpression is related to a poor prognosis in colorectal cancer.
  6. G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD.
    Title: G(4)C(2) Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD.
  7. POM121 promotes prostate cancer progression by enhancing importin-dependent nuclear transport of key oncogenic (E2F1, MYC) and prostate cancer-specific (AR-GATA2) transcription factors
    Title: Nuclear Pores Promote Lethal Prostate Cancer by Increasing POM121-Driven E2F1, MYC, and AR Nuclear Import.
  8. Taken together, these results showed that full-length Pom121 enables efficient HIV-1 pre-integration complex nuclear import, and suggested that this process may rely on KPNB1 dependent classical cargo nuclear transportation way.
    Title: The transmembrane nucleoporin Pom121 ensures efficient HIV-1 pre-integration complex nuclear import.
  9. findings implicate alternate transcription initiation as a mechanism to increase the functional diversity of NPC components, such as POM121
    Title: Evolution of a transcriptional regulator from a transmembrane nucleoporin.
  10. The conserved features of the NLSs of ScHeh1, ScHeh2, and RnPom121 and the effective sorting of Heh2-derived reporters in human cells suggest that active import is conserved but confined to a small subset of INM proteins.
    Title: Conservation of inner nuclear membrane targeting sequences in mammalian Pom121 and yeast Heh2 membrane proteins.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3792, FLJ41820, KIAA0618, DKFZp586G1822, DKFZp586P2220

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 nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
part_of nuclear pore NAS
Non-traceable Author Statement
more info
 PubMed 
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 121
Names
POM121 membrane glycoprotein
nuclear envelope pore membrane protein POM 121A
nuclear pore membrane protein 121 kDa
nucleoporin Nup121

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

    Status: REVIEWED

    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:56 → 287
    POM121; POM121 family

  2. NM_001367610.1 → NP_001354539.1  nuclear envelope pore membrane protein POM 121 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Conserved Domains (2) summary
    PHA03247
    Location:303 → 666
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  3. NM_001387685.1 → NP_001374614.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  4. NM_001387686.1 → NP_001374615.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Related
    ENSP00000486504.1, ENST00000627934.3
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  5. NM_001387687.1 → NP_001374616.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  6. NM_001387688.1 → NP_001374617.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  7. NM_001387689.1 → NP_001374618.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  8. NM_001387691.1 → NP_001374620.1  nuclear envelope pore membrane protein POM 121 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC211476
    Consensus CDS
    CCDS94112.1
    UniProtKB/Swiss-Prot
    A6NFS9, A8CDT4, A8K933, A8MXF9, Q96DI0, Q96HA1, Q9H9X1
    Related
    ENSP00000405562.2, ENST00000434423.5
    Conserved Domains (2) summary
    PHA03247
    Location:627 → 990
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:321 → 552
    POM121; POM121 family

  9. NM_001387692.1 → NP_001374621.1  nuclear envelope pore membrane protein POM 121 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC211476
    Conserved Domains (3) summary
    PRK12688
    Location:971 → 1176
    PRK12688; flagellin; Reviewed
    PHA03247
    Location:568 → 931
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:321 → 552
    POM121; POM121 family

  10. NM_001387693.1 → NP_001374622.1  nuclear envelope pore membrane protein POM 121 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC211476
    UniProtKB/Swiss-Prot
    A0A075B7F8, A0A087WY75, A8CG34, O75115, Q9Y2N3, Q9Y4S7
    Conserved Domains (2) summary
    PHA03247
    Location:531 → 894
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:321 → 456
    POM121; POM121 family

  11. NM_001387694.1 → NP_001374623.1  nuclear envelope pore membrane protein POM 121 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:368 → 731
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  12. NM_001387695.1 → NP_001374624.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  13. NM_001387696.1 → NP_001374625.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  14. NM_001387697.1 → NP_001374626.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  15. NM_001387698.1 → NP_001374627.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  16. NM_001387699.1 → NP_001374628.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  17. NM_001387700.1 → NP_001374629.1  nuclear envelope pore membrane protein POM 121 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  18. NM_001387701.1 → NP_001374630.1  nuclear envelope pore membrane protein POM 121 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Conserved Domains (2) summary
    PHA03247
    Location:303 → 666
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  19. NM_001387702.1 → NP_001374631.1  nuclear envelope pore membrane protein POM 121 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Conserved Domains (2) summary
    PHA03247
    Location:303 → 666
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  20. NM_001387703.1 → NP_001374632.1  nuclear envelope pore membrane protein POM 121 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Conserved Domains (2) summary
    PHA03247
    Location:303 → 666
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  21. NM_001387704.1 → NP_001374633.1  nuclear envelope pore membrane protein POM 121 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Conserved Domains (2) summary
    PHA03247
    Location:303 → 666
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

  22. NM_001387705.1 → NP_001374634.1  nuclear envelope pore membrane protein POM 121 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    UniProtKB/TrEMBL
    B4DET5
    Conserved Domains (2) summary
    PHA03247
    Location:266 → 629
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 191
    POM121; POM121 family

  23. NM_172020.5 → NP_742017.1  nuclear envelope pore membrane protein POM 121 isoform 2

    See identical proteins and their annotated locations for NP_742017.1

    Status: REVIEWED

    Source sequence(s)
    AC211469, AC211476
    Consensus CDS
    CCDS5542.1
    UniProtKB/Swiss-Prot
    A6NF01
    Conserved Domains (2) summary
    PHA03247
    Location:362 → 725
    PHA03247; large tegument protein UL36; Provisional
    pfam15229
    Location:56 → 287
    POM121; POM121 family

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
    72879357..72951459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421094.1 → XP_047277050.1  nuclear envelope pore membrane protein POM 121 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    74107626..74179689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359447.1 → XP_054215422.1  nuclear envelope pore membrane protein POM 121 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014833.1: Suppressed sequence

    Description
    NM_014833.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96HA1.2 GenPept UniProtKB/Swiss-Prot:Q96HA1

Gene LinkOut

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