Format

Send to:

Choose Destination

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

Gene ID: 11317, updated on 11-Jun-2021

Summary

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See RBPJL in Genome Data Viewer
Location:
20q13.12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45306836..45319677)
105.20201022 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 semenogelin 2 Neighboring gene secretory leukocyte peptidase inhibitor Neighboring gene matrilin 4 Neighboring gene tRNA-Val (anticodon CAC) 14-1 Neighboring gene syndecan 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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
located_in 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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001281448.2NP_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/Swiss-Prot
    Q9UBG7
    UniProtKB/TrEMBL
    Q5QPV1
    Related
    ENSP00000361826.3, ENST00000372741.7
    Conserved Domains (3) summary
    pfam09270
    Location:207359
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:69205
    LAG1-DNAbind; LAG1, DNA binding
    cl15674
    Location:381442
    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_001281449.2NP_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:381476
    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:207359
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:69205
    LAG1-DNAbind; LAG1, DNA binding
  3. NM_014276.4NP_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
    Q9UBG7
    Related
    ENSP00000341243.3, ENST00000343694.8
    Conserved Domains (3) summary
    cd01176
    Location:381477
    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:207359
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:69205
    LAG1-DNAbind; LAG1, DNA binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45306836..45319677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528522.2XP_011526824.1  recombining binding protein suppressor of hairless-like protein isoform X2

    Conserved Domains (2) summary
    pfam09270
    Location:207343
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:69205
    LAG1-DNAbind; LAG1, DNA binding
  2. XM_011528521.2XP_011526823.1  recombining binding protein suppressor of hairless-like protein isoform X1

    Conserved Domains (3) summary
    pfam09270
    Location:207359
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:69205
    LAG1-DNAbind; LAG1, DNA binding
    cl15674
    Location:381414
    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 ...
  3. XM_011528523.2XP_011526825.1  recombining binding protein suppressor of hairless-like protein isoform X3

    Conserved Domains (2) summary
    pfam09270
    Location:207343
    BTD; Beta-trefoil DNA-binding domain
    pfam09271
    Location:69205
    LAG1-DNAbind; LAG1, DNA binding

RNA

  1. XR_936496.2 RNA Sequence

  2. XR_936497.2 RNA Sequence

Support Center