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    RBBP8NL RBBP8 N-terminal like [ Homo sapiens (human) ]

    Gene ID: 140893, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RBBP8NLprovided by HGNC
    Official Full Name
    RBBP8 N-terminal likeprovided by HGNC
    Primary source
    HGNC:HGNC:16144
    See related
    Ensembl:ENSG00000130701 AllianceGenome:HGNC:16144
    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
    Also known as
    C20orf151
    Summary
    Located in extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in small intestine (RPKM 2.1), duodenum (RPKM 2.0) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBBP8NL in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62410237..62427539, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64206781..64224245, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (60985293..61002595, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:60961625-60962316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60962317-60963008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60967444-60967944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60967945-60968445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60968662-60969186 Neighboring gene Cdk5 and Abl enzyme substrate 2 Neighboring gene ribosomal protein S21 Neighboring gene uncharacterized LOC105372709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60998065-60998856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61001435-61002194 Neighboring gene uncharacterized LOC105372710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61012716-61013216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61016724-61017224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61017225-61017725 Neighboring gene Sharpr-MPRA regulatory region 3586 Neighboring gene GATA binding protein 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61048659-61049319

    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. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. Böhm D, et al. Oncol Rep, 2012 Aug. PMID 22664934, Free PMC Article
    2. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    4. 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
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    RBBP8 N-terminal-like protein

    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_080833.3 → NP_543023.2  RBBP8 N-terminal-like protein

      See identical proteins and their annotated locations for NP_543023.2

      Status: VALIDATED

      Source sequence(s)
      AK074919, AL121832, BC033142, DA871775
      Consensus CDS
      CCDS13498.1
      UniProtKB/Swiss-Prot
      B2RP98, Q8N4Z9, Q8NC74, Q9BR75, Q9H0Y9
      UniProtKB/TrEMBL
      A8K2N4
      Related
      ENSP00000252998.1, ENST00000252998.2
      Conserved Domains (1) summary
      pfam10482
      Location:4 → 122
      CtIP_N; Tumour-suppressor protein CtIP N-terminal domain

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      62410237..62427539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      64206781..64224245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NC74.3 GenPept UniProtKB/Swiss-Prot:Q8NC74

    Gene LinkOut

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

    Chemical Information
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