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PABPN1 information


PABPN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPABPN1, OPMD, PAB2, PABII, PABP-2, PABP2, poly(A) binding protein nuclear 1
External IDsOMIM: 602279 MGI: 1859158 HomoloGene: 3412 GeneCards: PABPN1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004643
NM_001360551
NM_001360552

NM_019402

RefSeq (protein)

NP_004634
NP_001347480
NP_001347481

NP_062275

Location (UCSC)Chr 14: 23.32 – 23.33 MbChr 14: 55.13 – 55.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the PABPN1 gene.[5][6] PABN1 is a member of a larger family of poly(A)-binding proteins in the human genome.

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100836 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022194 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP (Aug 1995). "The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13". Hum Mol Genet. 4 (3): 429–34. doi:10.1093/hmg/4.3.429. PMID 7795598.
  6. ^ "Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1".

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PABPN1

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as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the PABPN1 gene. PABN1 is a member of a larger family of...

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Oculopharyngeal muscular dystrophy

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carriers of the mutated gene, and usually show no signs or symptoms. The PABPN1 mutation contains a GCG trinucleotide repeat at the 5' end of the coding...

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Muscular dystrophy

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heart, endocrine organs, and eyes. Oculopharyngeal muscular dystrophy 164300 PABPN1 AD, rarely AR 40–50 years Eye muscles, face, throat, pelvis, shoulders...

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Medical genetics of Jews

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 Oculopharyngeal muscular dystrophy Neurology Autosomal, recessive or dominant PABPN1 1/7 Bukhara  Phenylketonuria Medical genetics, pediatrics, dietetics Autosomal...

Word Count : 3828

Housekeeping gene

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Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRPK), transcript PABPN1 poly(A) binding protein, nuclear 1 SRSF3 splicing factor, arginine/serine-rich...

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PABPC1

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There are two separate PABP1 proteins, one which is located in the nucleus (PABPN1) and the other which is found in the cytoplasm (PABPC1). The location of...

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RNA recognition motif

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MYEF2; NCBP2; NCL; NOL8; NONO; P14; PABPC1; PABPC1L; PABPC3; PABPC4; PABPC5; PABPN1; POLDIP3; PPARGC1; PPARGC1A; PPARGC1B; PPIE; PPIL4; PPRC1; PSPC1; PTBP1;...

Word Count : 812

PABPII

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PABPI in being localized to the cell nucleus rather than the cytoplasm. PABPN1 Lodish H, Berk A, Matsudaira P, Kaiser CA, Krieger M, Scott MP, Zipursky...

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SNW1

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NOTCH1 Nuclear receptor co-repressor 2, Nuclear receptor coactivator 1, PABPN1, RBPJ, Retinoblastoma protein, and SKI protein. GRCh38: Ensembl release...

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List of OMIM disorder codes

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autosomal recessive; 257850; GJA1 Oculopharyngeal muscular dystrophy; 164300; PABPN1 Odontohypophosphatasia; 146300; ALPL Odontoonychodermal dysplasia; 257980;...

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SLC46A3

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of human immunodeficiency virus (HIV) gene expression auaaaav 2.66×10−4 PABPN1 (poly(A) binding protein nuclear 1) binds to nascent poly(A) tails and directs...

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