Blnk B cell linker [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Blnkprovided by MGI
Official Full Name: B cell linkerprovided by MGI
Primary source: MGI:MGI:96878
See related: Ensembl:ENSMUSG00000061132 AllianceGenome:MGI:96878
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bca; BASH; Ly57; Ly-57; Lyw-57; SLP-65
Summary: Predicted to enable SH2 domain binding activity; enzyme binding activity; and signaling adaptor activity. Involved in positive regulation of gene expression. Located in cytoplasm. Is expressed in several structures, including genitourinary system; gut; immune system; lung; and olfactory epithelium. Human ortholog(s) of this gene implicated in agammaglobulinemia and agammaglobulinemia 4. Orthologous to human BLNK (B cell linker). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in spleen adult (RPKM 24.5), colon adult (RPKM 14.5) and 14 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19 C3; 19 34.26 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (40917371..40982664, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (40928927..40994221, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involvement of Blnk and Foxo1 in tumor suppression in BCRABL1transformed proB cells.
Title: Involvement of Blnk and Foxo1 in tumor suppression in BCR‑ABL1‑transformed pro‑B cells.
The pre-B-cell receptor (pre-BCR) signaling molecules BLNK, BTK and BANK1 were positively regulated by the ZFP521 gene, leading to enhancement of the pre-BCR signaling pathway.
Title: ZFP521 contributes to pre-B-cell lymphomagenesis through modulation of the pre-B-cell receptor signaling pathway.
Authors demonstrate leukemogenicity of PAX5-PML by introducing it into normal mouse pro-B cells; B-cell linker protein (Blnk) is repressed by PAX5-PML in leukemia cells; enforced expression of Blnk increases survival despite introduction of PAX5-PML.
Title: B Cell Linker Protein (BLNK) Is a Selective Target of Repression by PAX5-PML Protein in the Differentiation Block That Leads to the Development of Acute Lymphoblastic Leukemia.
B-cell linker protein expression contributes to controlling allergic and autoimmune diseases by mediating IL-10 production in regulatory B cells.
Title: B-cell linker protein expression contributes to controlling allergic and autoimmune diseases by mediating IL-10 production in regulatory B cells.
Tumor suppressor BLNK is a target of transcriptional activation by PU.1 and Spi-B in the B cell lineage.
Title: Regulation of B cell linker protein transcription by PU.1 and Spi-B in murine B cell acute lymphoblastic leukemia.
a novel negative feedback regulation of BCR signaling by HPK1-mediated phosphorylation, ubiquitination, and subsequent degradation of the activated BLNK
Title: Down-regulation of B cell receptor signaling by hematopoietic progenitor kinase 1 (HPK1)-mediated phosphorylation and ubiquitination of activated B cell linker protein (BLNK).
CMTM7 functions to link sIgM and BLNK in the plasma membrane.
Title: Identification of CMTM7 as a transmembrane linker of BLNK and the B-cell receptor.
Live cell imaging and co-immunoprecipitation experiments confirmed that both SLP65 and CIN85 are both required for the onset and progression phases of B-cell antigen receptor signal transduction.
Title: The B-cell antigen receptor signals through a preformed transducer module of SLP65 and CIN85.
malignant transformation of Btk/Slp65 double-deficient pre-B cells is independent of deregulated V(D)J recombination activity.
Title: Pre-B-cell leukemias in Btk/Slp65-deficient mice arise independently of ongoing V(D)J recombination activity.
Swip-1 provides a membrane scaffold that is required for the Syk-, SLP-65-, and PLCgamma2-dependent BCR-induced calcium flux.
Title: Swiprosin-1/EFhd2 controls B cell receptor signaling through the assembly of the B cell receptor, Syk, and phospholipase C gamma2 in membrane rafts.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (4)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

Blnk (e-PCR), detects polymorphism
- UniSTS:472844

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

D1M19Mit121 (e-PCR)
- UniSTS:128336

D19Mit121 (e-PCR), detects polymorphism
- UniSTS:128336

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH2 domain binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	ISO Inferred from Sequence Orthology more info
enables molecular condensate scaffold activity	ISO Inferred from Sequence Orthology more info
enables phospholipase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase binding	ISO Inferred from Sequence Orthology more info
enables signaling adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell activation	IEA Inferred from Electronic Annotation more info
involved_in B cell receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: B-cell linker protein

Names: B-cell adapter containing a SH2 domain protein; B-cell adapter containing a Src homology 2 domain protein; cytoplasmic adapter protein; lymphocyte antigen 57; src homology 2 domain-containing leukocyte protein of 65 kDa

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

NM_001365054.1 → NP_001351983.1 B-cell linker protein isoform 2

Status: VALIDATED

Source sequence(s)

AC117253, AC121873, AC126608

Consensus CDS

CCDS89391.1

UniProtKB/TrEMBL

D3YWR2

Related

ENSMUSP00000112473.2, ENSMUST00000117695.8

Conserved Domains (2) summary

cd09929
Location:332 → 452

SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)

cl26464
Location:99 → 327

Atrophin-1; Atrophin-1 family
NM_008528.5 → NP_032554.2 B-cell linker protein isoform 1

See identical proteins and their annotated locations for NP_032554.2

Status: VALIDATED

Source sequence(s)

AC117253, AC121873, AC126608

Consensus CDS

CCDS37983.1

UniProtKB/Swiss-Prot

O88504, Q9QUN3

Related

ENSMUSP00000057844.7, ENSMUST00000054769.7

Conserved Domains (1) summary

cd09929
Location:335 → 455

SH2_BLNK_SLP-76; Src homology 2 (SH2) domain found in B-cell linker (BLNK) protein and SH2 domain-containing leukocyte protein of 76 kDa (SLP-76)