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    NPIPB8 nuclear pore complex interacting protein family member B8 [ Homo sapiens (human) ]

    Gene ID: 728734, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NPIPB8provided by HGNC
    Official Full Name
    nuclear pore complex interacting protein family member B8provided by HGNC
    Primary source
    HGNC:HGNC:37490
    See related
    Ensembl:ENSG00000255524 AllianceGenome:HGNC:37490
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Broad expression in testis (RPKM 22.6), skin (RPKM 8.3) and 23 other tissues See more
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    Genomic context

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    See NPIPB8 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (28637891..28658744)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (28928825..28939457)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28649212..28670065)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28610237-28610771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28610772-28611305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28612139-28612653 Neighboring gene sulfotransferase family 1A member 2 Neighboring gene uncharacterized LOC107984835 Neighboring gene uncharacterized LOC124903674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28623750-28624250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28624498-28625048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28625049-28625598 Neighboring gene sulfotransferase family 1A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28626587-28627161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28677654-28678567 Neighboring gene small nucleolar RNA U13 Neighboring gene eukaryotic translation initiation factor 3 subunit C Neighboring gene cell division cycle 37 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. The sequence and analysis of duplication-rich human chromosome 16. Martin J, et al. Nature, 2004 Dec 23. PMID 15616553
    2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    nuclear pore complex-interacting protein family member B8
    Names
    Nuclear pore complex-interacting protein family member B8

    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_001310136.2 → NP_001297065.1  nuclear pore complex-interacting protein family member B8

      See identical proteins and their annotated locations for NP_001297065.1

      Status: VALIDATED

      Source sequence(s)
      AC020765, AC145285
      Consensus CDS
      CCDS81963.1
      UniProtKB/Swiss-Prot
      E9PQR5
      UniProtKB/TrEMBL
      B2RXF8
      Related
      ENSP00000507410.1, ENST00000683297.1
      Conserved Domains (2) summary
      pfam06409
      Location:48 → 301
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:2 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. NM_001385922.1 → NP_001372851.1  nuclear pore complex-interacting protein family member B8

      Status: VALIDATED

      Source sequence(s)
      AC020765, AC145285
      Consensus CDS
      CCDS81963.1
      UniProtKB/Swiss-Prot
      E9PQR5
      UniProtKB/TrEMBL
      B2RXF8
      Related
      ENSP00000434399.1, ENST00000529716.5
      Conserved Domains (2) summary
      pfam06409
      Location:48 → 301
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:2 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      28637891..28658744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434559.1 → XP_047290515.1  nuclear pore complex-interacting protein family member B8 isoform X1

    2. XM_047434565.1 → XP_047290521.1  nuclear pore complex-interacting protein family member B8 isoform X4

    3. XM_017023622.2 → XP_016879111.1  nuclear pore complex-interacting protein family member B8 isoform X1

      UniProtKB/TrEMBL
      B2RXF8

    4. XM_047434566.1 → XP_047290522.1  nuclear pore complex-interacting protein family member B8 isoform X5

    5. XM_047434560.1 → XP_047290516.1  nuclear pore complex-interacting protein family member B8 isoform X1

    6. XM_047434561.1 → XP_047290517.1  nuclear pore complex-interacting protein family member B8 isoform X2

    7. XM_017023625.2 → XP_016879114.1  nuclear pore complex-interacting protein family member B8 isoform X7

      UniProtKB/TrEMBL
      I3L0I5

    8. XM_047434562.1 → XP_047290518.1  nuclear pore complex-interacting protein family member B8 isoform X3

    9. XM_047434563.1 → XP_047290519.1  nuclear pore complex-interacting protein family member B8 isoform X3

    10. XM_047434568.1 → XP_047290524.1  nuclear pore complex-interacting protein family member B8 isoform X8

    11. XM_047434569.1 → XP_047290525.1  nuclear pore complex-interacting protein family member B8 isoform X9

    12. XM_047434570.1 → XP_047290526.1  nuclear pore complex-interacting protein family member B8 isoform X10

    13. XM_047434564.1 → XP_047290520.1  nuclear pore complex-interacting protein family member B8 isoform X3

    14. XM_047434567.1 → XP_047290523.1  nuclear pore complex-interacting protein family member B8 isoform X6

    15. XM_047434572.1 → XP_047290528.1  nuclear pore complex-interacting protein family member B8 isoform X12

    16. XM_047434571.1 → XP_047290527.1  nuclear pore complex-interacting protein family member B8 isoform X11

    17. XM_047434573.1 → XP_047290529.1  nuclear pore complex-interacting protein family member B8 isoform X13

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      28928825..28939457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9PQR5.1 GenPept UniProtKB/Swiss-Prot:E9PQR5

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