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

Gene ID: 55024, updated on 15-Jun-2019

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
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

Genomic context

See BANK1 in Genome Data Viewer
Location:
4q24
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (101790482..102074812)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (102711764..102995969)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 3 catalytic subunit alpha Neighboring gene uncharacterized LOC90024 Neighboring gene uncharacterized LOC107986297 Neighboring gene RNA, U6 small nuclear 462, pseudogene Neighboring gene MT-ND5 pseudogene 5 Neighboring gene solute carrier family 39 member 8 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20706, FLJ34204

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein tyrosine kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
B cell activation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of B cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of interleukin-6 secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase B signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of translational initiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
B-cell scaffold protein with ankyrin repeats

NCBI Reference Sequences (RefSeq)

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_015824.1 RefSeqGene

    Range
    5001..289206
    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
  2. NM_001127507.2NP_001120979.2  B-cell scaffold protein with ankyrin repeats isoform 3

    See identical proteins and their annotated locations for NP_001120979.2

    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)
    AA768944, AI864790, BE748761, BG200452, DA109829, EU051376
    Consensus CDS
    CCDS47115.1
    UniProtKB/Swiss-Prot
    Q8NDB2
    Related
    ENSP00000412748.1, ENST00000428908.5
    Conserved Domains (2) summary
    pfam14545
    Location:66195
    DBB; Dof, BCAP, and BANK (DBB) motif,
    cl02529
    Location:212264
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
  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
    Related
    ENSP00000320509.4, ENST00000322953.9
    Conserved Domains (1) summary
    pfam14545
    Location:199328
    DBB; Dof, BCAP, and BANK (DBB) motif,

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    101790482..102074812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008337.2XP_016863826.1  B-cell scaffold protein with ankyrin repeats isoform X1

    UniProtKB/Swiss-Prot
    Q8NDB2
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