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Protein

B-cell scaffold protein with ankyrin repeats

Gene

BANK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 - Biological processi

Complete GO annotation...

Keywords - Biological processi

B-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

HGNCiHGNC:18233. BANK1.

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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02772961R → H Polymorphism; may influence susceptibility to SLE. 1 PublicationCorresponds to variant rs10516487dbSNPEnsembl.1
Natural variantiVAR_027730383A → T Polymorphism; may influence susceptibility to SLE. 2 PublicationsCorresponds to variant rs3733197dbSNPEnsembl.1

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

Protein-protein interaction databases

BioGridi120354. 3 interactors.
IntActiQ8NDB2. 7 interactors.
MINTiMINT-7899411.
STRINGi9606.ENSP00000320509.

Structurei

3D structure databases

ProteinModelPortaliQ8NDB2.
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

Sequence similaritiesi

Contains 2 ANK repeats.Curated
Contains 1 DBB domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IHAS. Eukaryota.
ENOG410ZTCN. LUCA.
GeneTreeiENSGT00390000008787.
HOVERGENiHBG080888.
InParanoidiQ8NDB2.
OMAiLERPHFT.
OrthoDBiEOG091G0125.
PhylomeDBiQ8NDB2.
TreeFamiTF328570.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR020683. Ankyrin_rpt-contain_dom.
IPR017893. DBB_domain.
[Graphical view]
PfamiPF14545. DBB. 1 hit.
[Graphical view]
SMARTiSM01282. DBB. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS51376. DBB. 1 hit.
[Graphical view]

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 rs10516487dbSNPEnsembl.1
Natural variantiVAR_027730383A → T Polymorphism; may influence susceptibility to SLE. 2 PublicationsCorresponds to variant rs3733197dbSNPEnsembl.1
Natural variantiVAR_027731650C → R.5 PublicationsCorresponds to variant rs3113676dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8NDB2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120354. 3 interactors.
IntActiQ8NDB2. 7 interactors.
MINTiMINT-7899411.
STRINGi9606.ENSP00000320509.

PTM databases

iPTMnetiQ8NDB2.
PhosphoSitePlusiQ8NDB2.

Polymorphism and mutation databases

BioMutaiBANK1.
DMDMi308153627.

Proteomic databases

MaxQBiQ8NDB2.
PaxDbiQ8NDB2.
PeptideAtlasiQ8NDB2.
PRIDEiQ8NDB2.

Protocols and materials databases

DNASUi55024.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi55024.
DisGeNETi55024.
GeneCardsiBANK1.
HGNCiHGNC:18233. BANK1.
HPAiHPA037002.
MalaCardsiBANK1.
MIMi152700. phenotype.
610292. gene.
neXtProtiNX_Q8NDB2.
OpenTargetsiENSG00000153064.
Orphaneti536. Systemic lupus erythematosus.
PharmGKBiPA128394677.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHAS. Eukaryota.
ENOG410ZTCN. LUCA.
GeneTreeiENSGT00390000008787.
HOVERGENiHBG080888.
InParanoidiQ8NDB2.
OMAiLERPHFT.
OrthoDBiEOG091G0125.
PhylomeDBiQ8NDB2.
TreeFamiTF328570.

Miscellaneous databases

ChiTaRSiBANK1. human.
GenomeRNAii55024.
PROiQ8NDB2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153064.
CleanExiHS_BANK1.
GenevisibleiQ8NDB2. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR020683. Ankyrin_rpt-contain_dom.
IPR017893. DBB_domain.
[Graphical view]
PfamiPF14545. DBB. 1 hit.
[Graphical view]
SMARTiSM01282. DBB. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS51376. DBB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBANK1_HUMAN
AccessioniPrimary (citable) accession number: Q8NDB2
Secondary accession number(s): A8K7W8
, B0F3S2, Q8N5K8, Q8NB56, Q8WYN5, Q9NWP2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 5, 2010
Last modified: November 2, 2016
This is version 111 of the entry and version 3 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.