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Protein

B-cell scaffold protein with ankyrin repeats

Gene

BANK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in B-cell receptor (BCR)-induced Ca2+ mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.1 Publication

GO - Molecular functioni

  • protein tyrosine kinase binding Source: UniProtKB
  • signaling receptor binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processB-cell activation

Names & Taxonomyi

Protein namesi
Recommended name:
B-cell scaffold protein with ankyrin repeats
Gene namesi
Name:BANK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000153064.11
HGNCiHGNC:18233 BANK1
MIMi610292 gene
neXtProtiNX_Q8NDB2

Pathology & Biotechi

Involvement in diseasei

Systemic lupus erythematosus (SLE)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
See also OMIM:152700

Keywords - Diseasei

Systemic lupus erythematosus

Organism-specific databases

DisGeNETi55024
MalaCardsiBANK1
MIMi152700 phenotype
OpenTargetsiENSG00000153064
Orphaneti536 Systemic lupus erythematosus
PharmGKBiPA128394677

Polymorphism and mutation databases

BioMutaiBANK1
DMDMi308153627

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002519271 – 785B-cell scaffold protein with ankyrin repeatsAdd BLAST785

Post-translational modificationi

Phosphorylated on tyrosines upon BCR activation.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NDB2
PaxDbiQ8NDB2
PeptideAtlasiQ8NDB2
PRIDEiQ8NDB2

PTM databases

iPTMnetiQ8NDB2
PhosphoSitePlusiQ8NDB2

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000153064
CleanExiHS_BANK1
GenevisibleiQ8NDB2 HS

Organism-specific databases

HPAiHPA037002

Interactioni

Subunit structurei

Interacts with LYN, ITPR1 and ITPR2.1 Publication

GO - Molecular functioni

  • protein tyrosine kinase binding Source: UniProtKB
  • signaling receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120354, 3 interactors
IntActiQ8NDB2, 7 interactors
MINTiQ8NDB2
STRINGi9606.ENSP00000320509

Structurei

3D structure databases

ProteinModelPortaliQ8NDB2
SMRiQ8NDB2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini200 – 327DBBPROSITE-ProRule annotationAdd BLAST128
Repeati342 – 371ANK 1Add BLAST30
Repeati378 – 408ANK 2Add BLAST31

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 154Interaction with ITPR21 PublicationAdd BLAST154

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IHAS Eukaryota
ENOG410ZTCN LUCA
GeneTreeiENSGT00390000008787
HOVERGENiHBG080888
InParanoidiQ8NDB2
OMAiLERPHFT
OrthoDBiEOG091G0125
PhylomeDBiQ8NDB2
TreeFamiTF328570

Family and domain databases

Gene3Di3.40.50.10140, 1 hit
InterProiView protein in InterPro
IPR036770 Ankyrin_rpt-contain_sf
IPR017893 DBB_domain
IPR035897 Toll_tir_struct_dom_sf
PfamiView protein in Pfam
PF14545 DBB, 1 hit
SMARTiView protein in SMART
SM01282 DBB, 1 hit
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS51376 DBB, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NDB2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLPAAPGKGL GSPDPAPCGP APPGNTKDII MIYEEDAEEW ALYLTEVFLH
60 70 80 90 100
VVKREAILLY RLENFSFRHL ELLNLTSYKC KLLILSNSLL RDLTPKKCQF
110 120 130 140 150
LEKILHSPKS VVTLLCGVKS SDQLYELLNI SQSRWEISTE QEPEDYISVI
160 170 180 190 200
QSIIFKDSED YFEVNIPTDL RAKHSGEISE RKEIEELSEA SRNTIPLAVV
210 220 230 240 250
LPTEIPCENP GEIFIILRDE VIGDTVEVEF TSSNKRIRTR PALWNKKVWC
260 270 280 290 300
MKALEFPAGS VHVNVYCDGI VKATTKIKYY PTAKAKECLF RMADSGESLC
310 320 330 340 350
QNSIEELDGV LTSIFKHEIP YYEFQSLQTE ICSQNKYTHF KELPTLLHCA
360 370 380 390 400
AKFGLKNLAI HLLQCSGATW ASKMKNMEGS DPAHIAERHG HKELKKIFED
410 420 430 440 450
FSIQEIDINN EQENDYEEDI ASFSTYIPST QNPAFHHESR KTYGQSADGA
460 470 480 490 500
EANEMEGEGK QNGSGMETKH SPLEVGSESS EDQYDDLYVF IPGADPENNS
510 520 530 540 550
QEPLMSSRPP LPPPRPVANA FQLERPHFTL PGTMVEGQME RSQNWGHPGV
560 570 580 590 600
RQETGDEPKG EKEKKEEEKE QEEEEDPYTF AEIDDSEYDM ILANLSIKKK
610 620 630 640 650
TGSRSFIINR PPAPTPRPTS IPPKEETTPY IAQVFQQKTA RRQSDDDKFC
660 670 680 690 700
GLPKKQDRAR IESPAFSTLR GCLTDGQEEL ILLQEKVKNG KMSMDEALEK
710 720 730 740 750
FKHWQMGKSG LEMIQQEKLR QLRDCIIGKR PEEENVYNKL TIVHHPGGKE
760 770 780
TAHNENKFYN VHFSNKLPAR PQVEKEFGFC CKKDH
Length:785
Mass (Da):89,282
Last modified:October 5, 2010 - v3
Checksum:iA4A833E4A13FC6A6
GO
Isoform 2 (identifier: Q8NDB2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: Missing.
     15-23: PAPCGPAPP → MVNCHLKI

Note: No experimental confirmation available.
Show »
Length:770
Mass (Da):88,141
Checksum:i4A4B533F885A3C34
GO
Isoform 3 (identifier: Q8NDB2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.

Show »
Length:755
Mass (Da):86,460
Checksum:i08ACB3617BC22FF0
GO
Isoform 4 (identifier: Q8NDB2-4) [UniParc]FASTAAdd to basket
Also known as: delta2

The sequence of this isoform differs from the canonical sequence as follows:
     24-156: Missing.

Show »
Length:652
Mass (Da):73,674
Checksum:i5751DEA277FF9DCA
GO

Sequence cautioni

The sequence BAA91337 differs from that shown. Reason: Frameshift at positions 571 and 681.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti143P → L in BAA91337 (PubMed:14702039).Curated1
Sequence conflicti209N → D in BAC03685 (PubMed:14702039).Curated1
Sequence conflicti303S → R in BAF84822 (PubMed:14702039).Curated1
Sequence conflicti436H → R in BAB79255 (PubMed:11782428).Curated1
Sequence conflicti557E → D in BAA91337 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02772961R → H Polymorphism; may influence susceptibility to SLE. 1 PublicationCorresponds to variant dbSNP:rs10516487EnsemblClinVar.1
Natural variantiVAR_027730383A → T Polymorphism; may influence susceptibility to SLE. 2 PublicationsCorresponds to variant dbSNP:rs3733197Ensembl.1
Natural variantiVAR_027731650C → R5 PublicationsCorresponds to variant dbSNP:rs3113676Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0208031 – 30Missing in isoform 3. 2 PublicationsAdd BLAST30
Alternative sequenceiVSP_0208041 – 14Missing in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_02080515 – 23PAPCGPAPP → MVNCHLKI in isoform 2. 1 Publication9
Alternative sequenceiVSP_03421424 – 156Missing in isoform 4. 1 PublicationAdd BLAST133

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB063170 mRNA Translation: BAB79255.1
EU051376 mRNA Translation: ABW74340.1
AK000713 mRNA Translation: BAA91337.1 Frameshift.
AK091523 mRNA Translation: BAC03685.1
AK292133 mRNA Translation: BAF84822.1
AL834291 mRNA Translation: CAD38965.2
AC093694 Genomic DNA No translation available.
AC095062 Genomic DNA No translation available.
AC109928 Genomic DNA No translation available.
AP002075 Genomic DNA No translation available.
BC032241 mRNA Translation: AAH32241.2
CCDSiCCDS34038.1 [Q8NDB2-1]
CCDS47115.1 [Q8NDB2-4]
CCDS47116.1 [Q8NDB2-3]
RefSeqiNP_001077376.2, NM_001083907.2
NP_001120979.2, NM_001127507.2
NP_060405.4, NM_017935.4
XP_016863826.1, XM_017008337.1 [Q8NDB2-3]
UniGeneiHs.480400

Genome annotation databases

EnsembliENST00000322953; ENSP00000320509; ENSG00000153064 [Q8NDB2-1]
ENST00000428908; ENSP00000412748; ENSG00000153064 [Q8NDB2-4]
ENST00000444316; ENSP00000388817; ENSG00000153064 [Q8NDB2-3]
ENST00000504592; ENSP00000421443; ENSG00000153064 [Q8NDB2-2]
ENST00000508653; ENSP00000422314; ENSG00000153064 [Q8NDB2-4]
GeneIDi55024
KEGGihsa:55024
UCSCiuc003hvx.4 human [Q8NDB2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBANK1_HUMAN
AccessioniPrimary (citable) accession number: Q8NDB2
Secondary accession number(s): A8K7W8
, B0F3S2, Q8N5K8, Q8NB56, Q8WYN5, Q9NWP2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 5, 2010
Last modified: May 23, 2018
This is version 117 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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