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

Gene ID: 55024, updated on 23-Nov-2023

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
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Genomic context

See BANK1 in Genome Data Viewer
Location:
4q24
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (101790730..102074812)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (105104977..105389016)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (102711887..102995969)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900741 Neighboring gene uncharacterized LOC107986297 Neighboring gene Sharpr-MPRA regulatory region 13477 Neighboring gene RNA, U6 small nuclear 462, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15594 Neighboring gene MPRA-validated peak5084 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:102874961-102875511 Neighboring gene MPRA-validated peak5086 silencer Neighboring gene MT-ND5 pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103131208-103131806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:103131807-103132405 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:103188587-103189786 Neighboring gene solute carrier family 39 member 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103242691-103243218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21751 Neighboring gene RNA, 7SL, cytoplasmic 728, pseudogene

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?

Phenotypes

EBI GWAS Catalog

Description
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
EBI GWAS Catalog
Genome-wide linkage and association scans for pulse pressure in Chinese twins.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ20706, FLJ34204

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

General protein information

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

  1. NG_015824.2 RefSeqGene

    Range
    5002..289084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083907.3NP_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:169298
    DBB; Dof, BCAP, and BANK (DBB) motif,
    pfam18567
    Location:1124
    TIR_3; Toll/interleukin-1 receptor domain
  2. NM_001127507.3NP_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:66195
    DBB; Dof, BCAP, and BANK (DBB) motif,
  3. NM_017935.5NP_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:199328
    DBB; Dof, BCAP, and BANK (DBB) motif,

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    101790730..102074812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    105104977..105389016
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)