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    RBPJL recombination signal binding protein for immunoglobulin kappa J region like [ Homo sapiens (human) ]

    Gene ID: 11317, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RBPJLprovided by HGNC
    Official Full Name
    recombination signal binding protein for immunoglobulin kappa J region likeprovided by HGNC
    Primary source
    HGNC:HGNC:13761
    See related
    Ensembl:ENSG00000124232 MIM:616104; AllianceGenome:HGNC:13761
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBPL; SUHL; RBPSUHL
    Summary
    This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Restricted expression toward pancreas (RPKM 78.6) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q13.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45306840..45317824)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47042717..47053701)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43935480..43946464)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372630 Neighboring gene uncharacterized LOC124904913 Neighboring gene secretory leukocyte peptidase inhibitor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12955 Neighboring gene matrilin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17946 Neighboring gene tRNA-Val (anticodon CAC) 14-1 Neighboring gene syndecan 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43971073-43971967

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex. Nair AK, et al. Eur J Hum Genet, 2018 Feb. PMID 29302047, Free PMC Article
    2. Chromosomal mapping of two RBP-J-related genes: Kyo-T and RBP-L. Tani S, et al. J Hum Genet, 1999. PMID 9929984
    3. PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L. Beres TM, et al. Mol Cell Biol, 2006 Jan. PMID 16354684, Free PMC Article
    4. p/CAF modulates the activity of the transcription factor p48/Ptf1a involved in pancreatic acinar differentiation. Rodolosse A, et al. Biochem J, 2009 Mar 1. PMID 18834332
    5. RBP-L, a transcription factor related to RBP-Jkappa. Minoguchi S, et al. Mol Cell Biol, 1997 May. PMID 9111338, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Amerindian-derived population-specific Thr280Met variant may modify risk of diabetes mellitus by regulating exocrine enzyme expression.
      Title: Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex.
    2. In mouse, there is cooperative transcriptional activity of RBP-L with EBNA-2.
      Title: RBP-L, a transcription factor related to RBP-Jkappa.
    3. P48 interacts with the RBP-L and RBP-J subunits primarily through two short conserved tryptophan-containing motifs, similar to the motif of the Notch intracellular domain (NotchIC) that interacts with RBP-J.
      Title: PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L.
    Submit: New GeneRIF Correction

    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

    Pathways from PubChem

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    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

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    recombining binding protein suppressor of hairless-like protein
    Names
    transcription factor RBP-L

    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_001281448.2 → NP_001268377.1  recombining binding protein suppressor of hairless-like protein isoform 2

      See identical proteins and their annotated locations for NP_001268377.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which leads to a translational frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB024964, AL021578, BC030213, CA950939, DA045470
      Consensus CDS
      CCDS63284.1
      UniProtKB/TrEMBL
      Q5QPV1
      Related
      ENSP00000361826.3, ENST00000372741.7
      Conserved Domains (3) summary
      pfam09270
      Location:207 → 359
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:69 → 205
      LAG1-DNAbind; LAG1, DNA binding
      cl15674
      Location:381 → 442
      IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...

    2. NM_001281449.2 → NP_001268378.1  recombining binding protein suppressor of hairless-like protein isoform 3

      See identical proteins and their annotated locations for NP_001268378.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AB027710, AL021578, BC030213, CA950939, DA045470
      Consensus CDS
      CCDS63283.1
      UniProtKB/Swiss-Prot
      Q9UBG7
      Related
      ENSP00000361828.1, ENST00000372743.5
      Conserved Domains (3) summary
      cd01176
      Location:381 → 476
      IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
      pfam09270
      Location:207 → 359
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:69 → 205
      LAG1-DNAbind; LAG1, DNA binding

    3. NM_014276.4 → NP_055091.2  recombining binding protein suppressor of hairless-like protein isoform 1

      See identical proteins and their annotated locations for NP_055091.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB024964, AL021578, BC030213, CA950939, DA045470
      Consensus CDS
      CCDS13349.1
      UniProtKB/Swiss-Prot
      O95723, Q5QPU9, Q5QPV0, Q9UBG7, Q9ULV9
      Related
      ENSP00000341243.3, ENST00000343694.8
      Conserved Domains (3) summary
      cd01176
      Location:381 → 477
      IPT_RBP-Jkappa; IPT domain of the recombination signal Jkappa binding protein (RBP-Jkappa). RBP-J kappa, was initially considered to be involved in V(D)J recombination because of its DNA binding specificity and structural similarity to site-specific recombinases known ...
      pfam09270
      Location:207 → 359
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:69 → 205
      LAG1-DNAbind; LAG1, DNA binding

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      45306840..45317824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528522.3 → XP_011526824.1  recombining binding protein suppressor of hairless-like protein isoform X1

      Conserved Domains (2) summary
      pfam09270
      Location:207 → 343
      BTD; Beta-trefoil DNA-binding domain
      pfam09271
      Location:69 → 205
      LAG1-DNAbind; LAG1, DNA binding

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47042717..47053701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322918.1 → XP_054178893.1  recombining binding protein suppressor of hairless-like protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBG7.3 GenPept UniProtKB/Swiss-Prot:Q9UBG7

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