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Q8NDB2

- BANK1_HUMAN

UniProt

Q8NDB2 - BANK1_HUMAN

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Protein
B-cell scaffold protein with ankyrin repeats
Gene
BANK1
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. B cell activation Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:18233. BANK1.

Pathology & Biotechi

Involvement in diseasei

Systemic lupus erythematosus (SLE) [MIM:152700]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611R → H Influences susceptibility to SLE. 1 Publication
Corresponds to variant rs10516487 [ dbSNP | Ensembl ].
VAR_027729
Natural varianti383 – 3831A → T Influences susceptibility to SLE. 2 Publications
Corresponds to variant rs3733197 [ dbSNP | Ensembl ].
VAR_027730

Keywords - Diseasei

Systemic lupus erythematosus

Organism-specific databases

MIMi152700. phenotype.
Orphaneti536. Systemic lupus erythematosus.
PharmGKBiPA128394677.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 785785B-cell scaffold protein with ankyrin repeats
PRO_0000251927Add
BLAST

Post-translational modificationi

Phosphorylated on tyrosines upon BCR activation.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NDB2.
PaxDbiQ8NDB2.
PRIDEiQ8NDB2.

PTM databases

PhosphoSiteiQ8NDB2.

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

BgeeiQ8NDB2.
CleanExiHS_BANK1.
GenevestigatoriQ8NDB2.

Organism-specific databases

HPAiHPA037002.

Interactioni

Subunit structurei

Interacts with LYN, ITPR1 and ITPR2.1 Publication

Protein-protein interaction databases

BioGridi120354. 3 interactions.
IntActiQ8NDB2. 6 interactions.
MINTiMINT-7899411.
STRINGi9606.ENSP00000320509.

Structurei

3D structure databases

ProteinModelPortaliQ8NDB2.
SMRiQ8NDB2. Positions 341-400.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini200 – 327128DBB
Add
BLAST
Repeati342 – 37130ANK 1
Add
BLAST
Repeati378 – 40831ANK 2
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 154154Interaction with ITPR2
Add
BLAST

Sequence similaritiesi

Contains 2 ANK repeats.
Contains 1 DBB domain.

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiNOG123833.
HOVERGENiHBG080888.
InParanoidiQ8NDB2.
OMAiNVYCDGI.
OrthoDBiEOG77DJ53.
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]
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. Align

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

MLPAAPGKGL GSPDPAPCGP APPGNTKDII MIYEEDAEEW ALYLTEVFLH    50
VVKREAILLY RLENFSFRHL ELLNLTSYKC KLLILSNSLL RDLTPKKCQF 100
LEKILHSPKS VVTLLCGVKS SDQLYELLNI SQSRWEISTE QEPEDYISVI 150
QSIIFKDSED YFEVNIPTDL RAKHSGEISE RKEIEELSEA SRNTIPLAVV 200
LPTEIPCENP GEIFIILRDE VIGDTVEVEF TSSNKRIRTR PALWNKKVWC 250
MKALEFPAGS VHVNVYCDGI VKATTKIKYY PTAKAKECLF RMADSGESLC 300
QNSIEELDGV LTSIFKHEIP YYEFQSLQTE ICSQNKYTHF KELPTLLHCA 350
AKFGLKNLAI HLLQCSGATW ASKMKNMEGS DPAHIAERHG HKELKKIFED 400
FSIQEIDINN EQENDYEEDI ASFSTYIPST QNPAFHHESR KTYGQSADGA 450
EANEMEGEGK QNGSGMETKH SPLEVGSESS EDQYDDLYVF IPGADPENNS 500
QEPLMSSRPP LPPPRPVANA FQLERPHFTL PGTMVEGQME RSQNWGHPGV 550
RQETGDEPKG EKEKKEEEKE QEEEEDPYTF AEIDDSEYDM ILANLSIKKK 600
TGSRSFIINR PPAPTPRPTS IPPKEETTPY IAQVFQQKTA RRQSDDDKFC 650
GLPKKQDRAR IESPAFSTLR GCLTDGQEEL ILLQEKVKNG KMSMDEALEK 700
FKHWQMGKSG LEMIQQEKLR QLRDCIIGKR PEEENVYNKL TIVHHPGGKE 750
TAHNENKFYN VHFSNKLPAR PQVEKEFGFC CKKDH 785
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 BAA91337.1 differs from that shown. Reason: Frameshift at positions 571 and 681.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611R → H Influences susceptibility to SLE. 1 Publication
Corresponds to variant rs10516487 [ dbSNP | Ensembl ].
VAR_027729
Natural varianti383 – 3831A → T Influences susceptibility to SLE. 2 Publications
Corresponds to variant rs3733197 [ dbSNP | Ensembl ].
VAR_027730
Natural varianti650 – 6501C → R.5 Publications
Corresponds to variant rs3113676 [ dbSNP | Ensembl ].
VAR_027731

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3030Missing in isoform 3.
VSP_020803Add
BLAST
Alternative sequencei1 – 1414Missing in isoform 2.
VSP_020804Add
BLAST
Alternative sequencei15 – 239PAPCGPAPP → MVNCHLKI in isoform 2.
VSP_020805
Alternative sequencei24 – 156133Missing in isoform 4.
VSP_034214Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti143 – 1431P → L in BAA91337. 1 Publication
Sequence conflicti209 – 2091N → D in BAC03685. 1 Publication
Sequence conflicti303 – 3031S → R in BAF84822. 1 Publication
Sequence conflicti436 – 4361H → R in BAB79255. 1 Publication
Sequence conflicti557 – 5571E → D in BAA91337. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
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. [Q8NDB2-2]
uc003hvy.4. human. [Q8NDB2-1]
uc010ill.3. human. [Q8NDB2-4]

Polymorphism databases

DMDMi308153627.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS34038.1. [Q8NDB2-1 ]
CCDS47115.1. [Q8NDB2-4 ]
CCDS47116.1. [Q8NDB2-3 ]
RefSeqi NP_001077376.2. NM_001083907.2.
NP_001120979.2. NM_001127507.2.
NP_060405.4. NM_017935.4.
UniGenei Hs.480400.

3D structure databases

ProteinModelPortali Q8NDB2.
SMRi Q8NDB2. Positions 341-400.
ModBasei Search...

Protein-protein interaction databases

BioGridi 120354. 3 interactions.
IntActi Q8NDB2. 6 interactions.
MINTi MINT-7899411.
STRINGi 9606.ENSP00000320509.

PTM databases

PhosphoSitei Q8NDB2.

Polymorphism databases

DMDMi 308153627.

Proteomic databases

MaxQBi Q8NDB2.
PaxDbi Q8NDB2.
PRIDEi Q8NDB2.

Protocols and materials databases

DNASUi 55024.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000322953 ; ENSP00000320509 ; ENSG00000153064 . [Q8NDB2-1 ]
ENST00000428908 ; ENSP00000412748 ; ENSG00000153064 . [Q8NDB2-4 ]
ENST00000444316 ; ENSP00000388817 ; ENSG00000153064 . [Q8NDB2-3 ]
ENST00000504592 ; ENSP00000421443 ; ENSG00000153064 . [Q8NDB2-2 ]
ENST00000508653 ; ENSP00000422314 ; ENSG00000153064 . [Q8NDB2-4 ]
GeneIDi 55024.
KEGGi hsa:55024.
UCSCi uc003hvx.4. human. [Q8NDB2-2 ]
uc003hvy.4. human. [Q8NDB2-1 ]
uc010ill.3. human. [Q8NDB2-4 ]

Organism-specific databases

CTDi 55024.
GeneCardsi GC04P102332.
HGNCi HGNC:18233. BANK1.
HPAi HPA037002.
MIMi 152700. phenotype.
610292. gene.
neXtProti NX_Q8NDB2.
Orphaneti 536. Systemic lupus erythematosus.
PharmGKBi PA128394677.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG123833.
HOVERGENi HBG080888.
InParanoidi Q8NDB2.
OMAi NVYCDGI.
OrthoDBi EOG77DJ53.
PhylomeDBi Q8NDB2.
TreeFami TF328570.

Miscellaneous databases

ChiTaRSi BANK1. human.
GenomeRNAii 55024.
NextBioi 58410.
PROi Q8NDB2.
SOURCEi Search...

Gene expression databases

Bgeei Q8NDB2.
CleanExi HS_BANK1.
Genevestigatori Q8NDB2.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
InterProi IPR020683. Ankyrin_rpt-contain_dom.
IPR017893. DBB_domain.
[Graphical view ]
Pfami PF14545. DBB. 1 hit.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi PS51376. DBB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP3 receptor."
    Yokoyama K., Su I., Tezuka T., Yasuda T., Mikoshiba K., Tarakhovsky A., Yamamoto T.
    EMBO J. 21:83-92(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, PHOSPHORYLATION, INTERACTION WITH LYN; ITPR1 AND ITPR2, FUNCTION, VARIANT ARG-650.
    Tissue: B-cell.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, VARIANTS HIS-61; THR-383 AND ARG-650.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANTS THR-383 AND ARG-650.
    Tissue: Brain, Ileal mucosa and Synovium.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-650.
    Tissue: Lymph node.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-650.
    Tissue: Blood.

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: July 9, 2014
This is version 90 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

External Data

Dasty 3

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