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    NPIPB13 nuclear pore complex interacting protein family, member B13 [ Homo sapiens (human) ]

    Gene ID: 613037, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NPIPB13provided by HGNC
    Official Full Name
    nuclear pore complex interacting protein family, member B13provided by HGNC
    Primary source
    HGNC:HGNC:41989
    See related
    Ensembl:ENSG00000198064 AllianceGenome:HGNC:41989
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 20.3), bone marrow (RPKM 13.4) and 24 other tissues See more
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    Genomic context

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    See NPIPB13 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30222897..30248479, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30609397..30634670, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30234218..30259800, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SLX1A-SULT1A3 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30218380-30219378 Neighboring gene uncharacterized LOC101929894 Neighboring gene SAGA complex associated factor 29 pseudogene Neighboring gene phospholipase A2 group XJ, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30288190-30288315 Neighboring gene small nucleolar RNA U13 Neighboring gene SMG1 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7362

    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
    • 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. A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network. Lunardi A, et al. Proc Natl Acad Sci U S A, 2010 Apr 6. PMID 20308539, Free PMC Article
    2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nuclear pore complex-interacting protein family member B13
    Names
    Putative NPIP-like protein LOC613037
    nuclear pore complex interacting protein member

    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_001321892.3 → NP_001308821.1  nuclear pore complex-interacting protein family member B13

      Status: VALIDATED

      Source sequence(s)
      AC106782
      Consensus CDS
      CCDS81968.1
      UniProtKB/Swiss-Prot
      A6NJU9
      Conserved Domains (3) summary
      PHA03307
      Location:731 → 1130
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06409
      Location:46 → 303
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:2 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. NM_001395859.2 → NP_001382788.1  nuclear pore complex-interacting protein family member B13

      Status: VALIDATED

      Source sequence(s)
      AC106782
      Consensus CDS
      CCDS81968.1
      UniProtKB/Swiss-Prot
      A6NJU9
      Related
      ENSP00000513103.1, ENST00000697092.1
      Conserved Domains (3) summary
      PHA03307
      Location:731 → 1130
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06409
      Location:46 → 303
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:2 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. NM_001395860.2 → NP_001382789.1  nuclear pore complex-interacting protein family member B13

      Status: VALIDATED

      Source sequence(s)
      AC106782
      Consensus CDS
      CCDS81968.1
      UniProtKB/Swiss-Prot
      A6NJU9
      Conserved Domains (3) summary
      PHA03307
      Location:731 → 1130
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06409
      Location:46 → 303
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:2 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    4. NM_001395861.2 → NP_001382790.1  nuclear pore complex-interacting protein family member B13

      Status: VALIDATED

      Source sequence(s)
      AC106782
      Consensus CDS
      CCDS81968.1
      UniProtKB/Swiss-Prot
      A6NJU9
      Related
      ENSP00000429734.1, ENST00000520915.5
      Conserved Domains (3) summary
      PHA03307
      Location:731 → 1130
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam06409
      Location:46 → 303
      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
      30222897..30248479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434415.1 → XP_047290371.1  nuclear pore complex-interacting protein family member B13 isoform X1

    2. XM_047434417.1 → XP_047290373.1  nuclear pore complex-interacting protein family member B13 isoform X3

    3. XM_047434416.1 → XP_047290372.1  nuclear pore complex-interacting protein family member B13 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30609397..30634670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_002555.2: Suppressed sequence

      Description
      NR_002555.2: This RefSeq was removed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NJU9.4 GenPept UniProtKB/Swiss-Prot:A6NJU9

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