Human Gene BANK1 (ENST00000322953.9_10) from GENCODE V47lift37
  Description: B cell scaffold protein with ankyrin repeats 1, transcript variant 1 (from RefSeq NM_017935.5)
Gencode Transcript: ENST00000322953.9_10
Gencode Gene: ENSG00000153064.12_13
Transcript (Including UTRs)
   Position: hg19 chr4:102,711,887-102,995,969 Size: 284,083 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr4:102,712,038-102,994,900 Size: 282,863 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:102,711,887-102,995,969)mRNA (may differ from genome)Protein (785 aa)
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-  Comments and Description Text from UniProtKB
  ID: BANK1_HUMAN
DESCRIPTION: RecName: Full=B-cell scaffold protein with ankyrin repeats;
FUNCTION: Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.
SUBUNIT: Interacts with LYN, ITPR1 and ITPR2.
TISSUE SPECIFICITY: Expressed in B-cell but not T-cell or myeloid cell lines. Highest expression in CD19(+) B-cells, with very low expression in other cell populations.
PTM: Phosphorylated on tyrosines upon BCR activation.
DISEASE: Genetic variations in BANK1 influence susceptibility to systemic lupus erythematosus (SLE) [MIM:152700]. SLE is a chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin, joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system.
SIMILARITY: Contains 2 ANK repeats.
SIMILARITY: Contains 1 DBB domain.
SEQUENCE CAUTION: Sequence=BAA91337.1; Type=Frameshift; Positions=571, 681;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BANK1
Diseases sorted by gene-association score: lupus erythematosus (11), multifocal motor neuropathy (10), systemic lupus erythematosus (6), diffuse cutaneous systemic sclerosis (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.55 RPKM in Spleen
Total median expression: 61.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.90151-0.436 Picture PostScript Text
3' UTR -151.20813-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020683 - Ankyrin_rpt-contain_dom
IPR017893 - DBB_domain

Pfam Domains:
PF14545 - Dof, BCAP, and BANK (DBB) motif,
PF18567 - Toll/interleukin-1 receptor domain

SCOP Domains:
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q8NDB2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:1990782 protein tyrosine kinase binding

Biological Process:
GO:0042113 B cell activation
GO:0043410 positive regulation of MAPK cascade
GO:0045947 negative regulation of translational initiation
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050869 negative regulation of B cell activation
GO:0051898 negative regulation of protein kinase B signaling
GO:1900165 negative regulation of interleukin-6 secretion


-  Descriptions from all associated GenBank mRNAs
  AK091523 - Homo sapiens cDNA FLJ34204 fis, clone FCBBF3019867.
AX747038 - Sequence 563 from Patent EP1308459.
BC032241 - Homo sapiens B-cell scaffold protein with ankyrin repeats 1, mRNA (cDNA clone MGC:39917 IMAGE:5214147), complete cds.
AK292133 - Homo sapiens cDNA FLJ77584 complete cds, highly similar to Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), mRNA.
AL834291 - Homo sapiens mRNA; cDNA DKFZp667N1611 (from clone DKFZp667N1611).
EU051376 - Homo sapiens B-cell scaffold protein with ankyrin repeats 1 delta 2 transcript variant (BANK1) mRNA, complete cds.
AB587395 - Synthetic construct DNA, clone: pF1KB5713, Homo sapiens BANK1 gene for B-cell scaffold protein with ankyrin repeats 1, without stop codon, in Flexi system.
AK000713 - Homo sapiens cDNA FLJ20706 fis, clone KAIA1273.
CU689310 - Synthetic construct Homo sapiens gateway clone IMAGE:100017802 5' read BANK1 mRNA.
DQ894247 - Synthetic construct Homo sapiens clone IMAGE:100008707; FLH169010.01L; RZPDo839F0793D B-cell scaffold protein with ankyrin repeats 1 (BANK1) gene, encodes complete protein.
DQ891066 - Synthetic construct clone IMAGE:100003696; FLH169014.01X; RZPDo839F0794D B-cell scaffold protein with ankyrin repeats 1 (BANK1) gene, encodes complete protein.
KJ899060 - Synthetic construct Homo sapiens clone ccsbBroadEn_08454 BANK1 gene, encodes complete protein.
KR710822 - Synthetic construct Homo sapiens clone CCSBHm_00017416 BANK1 (BANK1) mRNA, encodes complete protein.
KR710823 - Synthetic construct Homo sapiens clone CCSBHm_00017417 BANK1 (BANK1) mRNA, encodes complete protein.
AB063170 - Homo sapiens mRNA for BANK, complete cds.
AK301936 - Homo sapiens cDNA FLJ60038 complete cds, highly similar to Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), mRNA.
JD218558 - Sequence 199582 from Patent EP1572962.
JD150948 - Sequence 131972 from Patent EP1572962.
JD448965 - Sequence 429989 from Patent EP1572962.
AK093024 - Homo sapiens cDNA FLJ35705 fis, clone SPLEN2020223.
JD522176 - Sequence 503200 from Patent EP1572962.
JD193580 - Sequence 174604 from Patent EP1572962.
JD419901 - Sequence 400925 from Patent EP1572962.
JD071551 - Sequence 52575 from Patent EP1572962.
JD299368 - Sequence 280392 from Patent EP1572962.
JD553268 - Sequence 534292 from Patent EP1572962.
JD486147 - Sequence 467171 from Patent EP1572962.
JD412252 - Sequence 393276 from Patent EP1572962.
JD062967 - Sequence 43991 from Patent EP1572962.
JD554256 - Sequence 535280 from Patent EP1572962.
JD551057 - Sequence 532081 from Patent EP1572962.
JD092484 - Sequence 73508 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K7W8, B0F3S2, BANK1_HUMAN, ENST00000322953.1, ENST00000322953.2, ENST00000322953.3, ENST00000322953.4, ENST00000322953.5, ENST00000322953.6, ENST00000322953.7, ENST00000322953.8, NM_017935, Q8N5K8, Q8NB56, Q8NDB2, Q8WYN5, Q9NWP2, uc317rjg.1, uc317rjg.2
UCSC ID: ENST00000322953.9_10
RefSeq Accession: NM_017935.5
Protein: Q8NDB2 (aka BANK1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.