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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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    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)

    Genotypes

    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

      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

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

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