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Gene Gene information from NCBI Gene database.
Entrez ID 9883
Gene name POM121 transmembrane nucleoporin
Gene symbol POM121
Synonyms (NCBI Gene)
P145POM121A
Chromosome 7
Chromosome location 7q11.23
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 env
miRNA miRNA information provided by mirtarbase database.
1335 Show/Hide all (1335)
miRTarBase ID miRNA Experiments Reference
MIRT001606 hsa-let-7b-5p pSILAC 18668040
MIRT002756 hsa-miR-1-3p pSILAC 18668040
MIRT002756 hsa-miR-1-3p Microarray 15685193
MIRT002756 hsa-miR-1-3p Proteomics 18668040
MIRT027557 hsa-miR-98-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IDA 24315095
GO:0005635 Component Nuclear envelope TAS
GO:0005643 Component Nuclear pore IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615753 19702 ENSG00000196313
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96HA1
Protein name Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa)
Protein function Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamel
PDB 5T6W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15229 POM121 318 → 552 Family
Sequence
MSPAAAAAGAGERRRPIASVRDGRGRGCGGPARAVLLGLSLVGLLLYLVPAAAALAWLTV
GATAAWWGLSREPRGSRPLSSFVRKARHRRPLSSFVRKARHRRTLFASPLAKSTANGNLL
EPRTLLEGPDPAELLLMGSYLGKPGPPQPAAAPEGQDLRDRPGRRPPARPAPRSPPPRSP
PPRSPPPSPPTHRAHHVYPSLPTPLLRPSRRPSPRDCGTLPNRFVITPRRRYPIHQAQYS
CLGVLPTVCWNGYHKKAVLSPRNSRMVCSPVTVRIAPPDRRFSRSAIPEQIISSTLSSPS
SNAPDPCAKETVLSALKEKEKKRTVEEEDQIFLDGQENKRRRHDSSGSGHSAFEPLVANG
VPASFVPKPGSLKRGLNSQSSDDHLNKRSRSSSMSSLTGAYASGIPSSSRNAITSSYSST
RGISQLWKRNGPSSSPFSSPASSRSQTPERPAKKIREEELCHHSSSSTPLAADRESQGEK
AADTTPRKKQNSNSQSTPGSSGQRKRKVQLLPSRRGEQLTLPPPPQLGYSITAEDLDLEK
KASLQWFNQALE
DKSDAASNSVTETPPITQPSFTFTLPAAAPASPPTSLLAPSTNPLLES
LKKMQTPPSLPPCPESAGAATTEALSPPKTPSLLPPLGLSQSGPPGLLPSPSFDSKPPTT
LLGLIPAPSMVPATDTKAPPTLQAETATKPQATSAPSPAPKQSFLFGTQNTSPSSPAAPA
ASSAPPMFKPIFTAPPKSEKEGPTPPGPSVTATAPSSSSLPTTTSTTAPTFQPVFSSMGP
PASVPLPAPFFKQTTTPATAPTTTAPLFTGLASATSAVAPITSASPSTDSASKPAFGFGI
NSVSSSSVSTTTSTATAASQPFLFGAPQASAASFTPAMGSIFQFGKPPALPTTTTVTTFS
QSLHTAVPTATSSSAADFSGFGSTLATSAPATSSQPTLTFSNTSTPTFNIPFGSSAKSPL
PSYPGANPQPAFGAAEGQPPGAAKPALAPSFGSSFTFGNSAAPAAAPTPAPPSMIKVVPA
YVPTPIHPIFGGATHSAFGLKATASAFGAPASSQPAFGGSTAVFFGAATSSGFGATTQTA
SSGSSSSVFGSTTPSPFTFGGSAAPAGSGSFGINVATPGSSTTTGAFSFGAGQSGSTATS
TPFAGGLGQNALGTTGQSTPFAFNVSSTTESKPVFGGTATPTFGLNTPAPGVGTSGSSLS
FGASSAPAQGFVGVAPFGSAALSFSIGAGSKTPGARQRLQARRQHTRKK
Sequence length 1249
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Nucleocytoplasmic transport ISG15 antiviral mechanism
Amyotrophic lateral sclerosis Transport of the SLBP independent Mature mRNA
  Transport of the SLBP Dependant Mature mRNA
  Transport of Mature mRNA Derived from an Intronless Transcript
  Transport of Mature mRNA derived from an Intron-Containing Transcript
  Rev-mediated nuclear export of HIV RNA
  Transport of Ribonucleoproteins into the Host Nucleus
  NS1 Mediated Effects on Host Pathways
  Viral Messenger RNA Synthesis
  NEP/NS2 Interacts with the Cellular Export Machinery
  Regulation of Glucokinase by Glucokinase Regulatory Protein
  Vpr-mediated nuclear import of PICs
  snRNP Assembly
  SUMOylation of DNA damage response and repair proteins
  SUMOylation of ubiquitinylation proteins
  Nuclear Pore Complex (NPC) Disassembly
  Regulation of HSF1-mediated heat shock response
  SUMOylation of SUMOylation proteins
  SUMOylation of chromatin organization proteins
  SUMOylation of RNA binding proteins
  SUMOylation of DNA replication proteins
  Transcriptional regulation by small RNAs
  Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
  tRNA processing in the nucleus
  HCMV Early Events
  HCMV Late Events
  Postmitotic nuclear pore complex (NPC) reformation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (19)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Blister Blister Pubtator 32342107 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31858845 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38177114 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 38177114 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 34257547 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Frontotemporal dementia Pubtator 32673563 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 31204697 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver Neoplasms Liver neoplasm Pubtator 32673563 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 31858845 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma Pubtator 2033090 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only