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

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; 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

Location:: 20q13.12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45306840..45317824)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47042717..47053701)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (43935480..43946464)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
In mouse, there is cooperative transcriptional activity of RBP-L with EBNA-2.
Title: RBP-L, a transcription factor related to RBP-Jkappa.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
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

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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)

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 ...
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

45306840..45317824

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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