BANK1 B cell scaffold protein with ankyrin repeats 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BANK1provided by HGNC
Official Full Name: B cell scaffold protein with ankyrin repeats 1provided by HGNC
Primary source: HGNC:HGNC:18233
See related: Ensembl:ENSG00000153064 MIM:610292; AllianceGenome:HGNC:18233
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: BANK
Summary: The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression: Biased expression in lymph node (RPKM 39.0), spleen (RPKM 27.4) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q24

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (101790730..102074812)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (105104977..105389016)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (102711887..102995969)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
Title: Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
IKBKE and BANK1 Polymorphisms and Clinical Characteristics in Chinese Women with Systemic Lupus Erythematosus.
Title: IKBKE and BANK1 Polymorphisms and Clinical Characteristics in Chinese Women with Systemic Lupus Erythematosus.
Variants in BANK1 are associated with lupus nephritis of European ancestry.
Title: Variants in BANK1 are associated with lupus nephritis of European ancestry.
The Role of BANK1 in B Cell Signaling and Disease.
Title: The Role of BANK1 in B Cell Signaling and Disease.
BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjogren's syndrome and with some clinical features.
Title: BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjögren's syndrome and with some clinical features.
Connection of BANK1, Tolerance, Regulatory B cells, and Apoptosis: Perspectives of a Reductionist Investigation.
Title: Connection of BANK1, Tolerance, Regulatory B cells, and Apoptosis: Perspectives of a Reductionist Investigation.
This is the first study showing an association of BLK rs2736340T/C and rs13277113A/G and BANK1 R61H with susceptibility to SLE in a Latin-American population. In addition, some BLK and BANK1 interactions were associated with susceptibility to SLE.
Title: BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.
Study demonstrates the functional consequences of rare and low frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines.
Title: Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
This study was the first to demonstrate that a BANK1 gene SNP (rs3733197) could confer genetic predisposition in polymyositis/dermatomyositis (PM/DM) patients and PM/DM patients with ILD in a Chinese Han population.
Title: Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population.
Our data defines a minimal set of risk associated eQTLs predicted to be involved in the expression of BANK1 modulated through epigenetic regulation and splicing. These findings allow us to suggest that the increased expression of BANK1 will have an impact on B-cell mediated disease pathways.
Title: Trans-Ethnic Mapping of BANK1 Identifies Two Independent SLE-Risk Linkage Groups Enriched for Co-Transcriptional Splicing Marks.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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

EBI GWAS Catalog

Description
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide linkage and association scans for pulse pressure in Chinese twins. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

SHGC-108016 (e-PCR)
- UniSTS:170503

SHGC-50588 (e-PCR)
- UniSTS:6164

G01532 (e-PCR)
- UniSTS:37414

RH123071 (e-PCR)
- UniSTS:135464

D4S290 (e-PCR)
- UniSTS:5435

RH92147 (e-PCR)
- UniSTS:92734

G01787 (e-PCR)
- UniSTS:58944

SHGC-51455 (e-PCR)
- UniSTS:46403

D4S2961 (e-PCR), detects polymorphism
- UniSTS:15443

GDB:372311 (e-PCR)
- UniSTS:70489

SHGC-106471 (e-PCR)
- UniSTS:169842

D4S1235 (e-PCR)
- UniSTS:12150

D4S3204 (e-PCR)
- UniSTS:51612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phospholipase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in B cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in B cell receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of B cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of translational initiation	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: B-cell scaffold protein with ankyrin repeats

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.

Genomic

NG_015824.2 RefSeqGene

Range

5002..289084

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001083907.3 → NP_001077376.3 B-cell scaffold protein with ankyrin repeats isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate exon at its 5' end, compared to variant 1, which produces a unique 5' UTR and causes translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC095062, AC109928, AP002075

Consensus CDS

CCDS47116.1

Related

ENSP00000388817.2, ENST00000444316.2

Conserved Domains (2) summary

pfam14545
Location:169 → 298

DBB; Dof, BCAP, and BANK (DBB) motif,

pfam18567
Location:1 → 124

TIR_3; Toll/interleukin-1 receptor domain
NM_001127507.3 → NP_001120979.3 B-cell scaffold protein with ankyrin repeats isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1.

Source sequence(s)

AC095062, AC109928, AP002075

Consensus CDS

CCDS47115.1

Related

ENSP00000412748.1, ENST00000428908.5

Conserved Domains (1) summary

pfam14545
Location:66 → 195

DBB; Dof, BCAP, and BANK (DBB) motif,
NM_017935.5 → NP_060405.5 B-cell scaffold protein with ankyrin repeats isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC095062, AC109928, AP002075

Consensus CDS

CCDS34038.1

UniProtKB/Swiss-Prot

A8K7W8, B0F3S2, Q8N5K8, Q8NB56, Q8NDB2, Q8WYN5, Q9NWP2

Related

ENSP00000320509.4, ENST00000322953.9

Conserved Domains (1) summary

pfam14545
Location:199 → 328

DBB; Dof, BCAP, and BANK (DBB) motif,