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Q8NDB2 (BANK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
B-cell scaffold protein with ankyrin repeats
Gene names
Name:BANK1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length785 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in B-cell receptor (BCR)-induced Ca2+ mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2. Ref.1

Subunit structure

Interacts with LYN, ITPR1 and ITPR2. Ref.1

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. Ref.1 Ref.2

Post-translational modification

Phosphorylated on tyrosines upon BCR activation. Ref.1

Involvement in disease

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.

Sequence similarities

Contains 2 ANK repeats.

Contains 1 DBB domain.

Sequence caution

The sequence BAA91337.1 differs from that shown. Reason: Frameshift at positions 571 and 681.

Ontologies

Keywords
   Biological processB-cell activation
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseSystemic lupus erythematosus
   DomainANK repeat
Repeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processB cell activation

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NDB2-1)

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.
Isoform 2 (identifier: Q8NDB2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: Missing.
     15-23: PAPCGPAPP → MVNCHLKI
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8NDB2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.
Isoform 4 (identifier: Q8NDB2-4)

Also known as: delta2;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 785785B-cell scaffold protein with ankyrin repeats
PRO_0000251927

Regions

Domain200 – 327128DBB
Repeat342 – 37130ANK 1
Repeat378 – 40831ANK 2
Region1 – 154154Interaction with ITPR2

Natural variations

Alternative sequence1 – 3030Missing in isoform 3.
VSP_020803
Alternative sequence1 – 1414Missing in isoform 2.
VSP_020804
Alternative sequence15 – 239PAPCGPAPP → MVNCHLKI in isoform 2.
VSP_020805
Alternative sequence24 – 156133Missing in isoform 4.
VSP_034214
Natural variant611R → H Influences susceptibility to SLE. Ref.2
Corresponds to variant rs10516487 [ dbSNP | Ensembl ].
VAR_027729
Natural variant3831A → T Influences susceptibility to SLE. Ref.2 Ref.4
Corresponds to variant rs3733197 [ dbSNP | Ensembl ].
VAR_027730
Natural variant6501C → R. Ref.1 Ref.2 Ref.4 Ref.5 Ref.7
Corresponds to variant rs3113676 [ dbSNP | Ensembl ].
VAR_027731

Experimental info

Sequence conflict1431P → L in BAA91337. Ref.4
Sequence conflict2091N → D in BAC03685. Ref.4
Sequence conflict3031S → R in BAF84822. Ref.4
Sequence conflict4361H → R in BAB79255. Ref.1
Sequence conflict5571E → D in BAA91337. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 5, 2010. Version 3.
Checksum: A4A833E4A13FC6A6

FASTA78589,282
        10         20         30         40         50         60 
MLPAAPGKGL GSPDPAPCGP APPGNTKDII MIYEEDAEEW ALYLTEVFLH VVKREAILLY 

        70         80         90        100        110        120 
RLENFSFRHL ELLNLTSYKC KLLILSNSLL RDLTPKKCQF LEKILHSPKS VVTLLCGVKS 

       130        140        150        160        170        180 
SDQLYELLNI SQSRWEISTE QEPEDYISVI QSIIFKDSED YFEVNIPTDL RAKHSGEISE 

       190        200        210        220        230        240 
RKEIEELSEA SRNTIPLAVV LPTEIPCENP GEIFIILRDE VIGDTVEVEF TSSNKRIRTR 

       250        260        270        280        290        300 
PALWNKKVWC MKALEFPAGS VHVNVYCDGI VKATTKIKYY PTAKAKECLF RMADSGESLC 

       310        320        330        340        350        360 
QNSIEELDGV LTSIFKHEIP YYEFQSLQTE ICSQNKYTHF KELPTLLHCA AKFGLKNLAI 

       370        380        390        400        410        420 
HLLQCSGATW ASKMKNMEGS DPAHIAERHG HKELKKIFED FSIQEIDINN EQENDYEEDI 

       430        440        450        460        470        480 
ASFSTYIPST QNPAFHHESR KTYGQSADGA EANEMEGEGK QNGSGMETKH SPLEVGSESS 

       490        500        510        520        530        540 
EDQYDDLYVF IPGADPENNS QEPLMSSRPP LPPPRPVANA FQLERPHFTL PGTMVEGQME 

       550        560        570        580        590        600 
RSQNWGHPGV RQETGDEPKG EKEKKEEEKE QEEEEDPYTF AEIDDSEYDM ILANLSIKKK 

       610        620        630        640        650        660 
TGSRSFIINR PPAPTPRPTS IPPKEETTPY IAQVFQQKTA RRQSDDDKFC GLPKKQDRAR 

       670        680        690        700        710        720 
IESPAFSTLR GCLTDGQEEL ILLQEKVKNG KMSMDEALEK FKHWQMGKSG LEMIQQEKLR 

       730        740        750        760        770        780 
QLRDCIIGKR PEEENVYNKL TIVHHPGGKE TAHNENKFYN VHFSNKLPAR PQVEKEFGFC 


CKKDH 

« Hide

Isoform 2 [UniParc].

Checksum: 4A4B533F885A3C34
Show »

FASTA77088,141
Isoform 3 [UniParc].

Checksum: 08ACB3617BC22FF0
Show »

FASTA75586,460
Isoform 4 (delta2) [UniParc].

Checksum: 5751DEA277FF9DCA
Show »

FASTA65273,674

References

« Hide 'large scale' references
[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]"Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus."
Kozyrev S.V., Abelson A.-K., Wojcik J., Zaghlool A., Linga Reddy M.V.P., Sanchez E., Gunnarsson I., Svenungsson E., Sturfelt G., Joensen A., Truedsson L., Pons-Estel B.A., Witte T., D'Alfonso S., Barizzone N., Danieli M.G., Gutierrez C., Suarez A. expand/collapse author list , Junker P., Laustrup H., Gonzalez-Escribano M.F., Martin J., Abderrahim H., Alarcon-Riquelme M.E.
Nat. Genet. 40:211-216(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, VARIANTS HIS-61; THR-383 AND ARG-650.
[3]Erratum
Kozyrev S.V., Abelson A.-K., Wojcik J., Zaghlool A., Linga Reddy M.V.P., Sanchez E., Gunnarsson I., Svenungsson E., Sturfelt G., Joensen A., Truedsson L., Pons-Estel B.A., Witte T., D'Alfonso S., Barizzone N., Danieli M.G., Gutierrez C., Suarez A. expand/collapse author list , Junker P., Laustrup H., Gonzalez-Escribano M.F., Martin J., Abderrahim H., Alarcon-Riquelme M.E.
Nat. Genet. 40:484-484(2008)
[4]"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. expand/collapse author list , 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.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-650.
Tissue: Lymph node.
[6]"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. expand/collapse author list , 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].
[7]"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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001077376.2. NM_001083907.2.
NP_001120979.2. NM_001127507.2.
NP_060405.4. NM_017935.4.
UniGeneHs.480400.

3D structure databases

ProteinModelPortalQ8NDB2.
SMRQ8NDB2. Positions 345-396.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120354. 3 interactions.
IntActQ8NDB2. 6 interactions.
MINTMINT-7899411.
STRING9606.ENSP00000320509.

PTM databases

PhosphoSiteQ8NDB2.

Polymorphism databases

DMDM308153627.

Proteomic databases

PaxDbQ8NDB2.
PRIDEQ8NDB2.

Protocols and materials databases

DNASU55024.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322953; ENSP00000320509; ENSG00000153064. [Q8NDB2-1]
ENST00000428908; ENSP00000412748; ENSG00000153064. [Q8NDB2-4]
ENST00000444316; ENSP00000388817; ENSG00000153064. [Q8NDB2-3]
ENST00000504592; ENSP00000421443; ENSG00000153064. [Q8NDB2-2]
ENST00000508653; ENSP00000422314; ENSG00000153064. [Q8NDB2-4]
GeneID55024.
KEGGhsa:55024.
UCSCuc003hvx.4. human. [Q8NDB2-2]
uc003hvy.4. human. [Q8NDB2-1]
uc010ill.3. human. [Q8NDB2-4]

Organism-specific databases

CTD55024.
GeneCardsGC04P102332.
HGNCHGNC:18233. BANK1.
HPAHPA037002.
MIM152700. phenotype.
610292. gene.
neXtProtNX_Q8NDB2.
Orphanet536. Systemic lupus erythematosus.
PharmGKBPA128394677.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG123833.
HOVERGENHBG080888.
InParanoidQ8NDB2.
OMANVYCDGI.
OrthoDBEOG77DJ53.
PhylomeDBQ8NDB2.
TreeFamTF328570.

Gene expression databases

BgeeQ8NDB2.
CleanExHS_BANK1.
GenevestigatorQ8NDB2.

Family and domain databases

Gene3D1.25.40.20. 1 hit.
InterProIPR020683. Ankyrin_rpt-contain_dom.
IPR017893. DBB_domain.
[Graphical view]
PfamPF14545. DBB. 1 hit.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
PROSITEPS51376. DBB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBANK1. human.
GenomeRNAi55024.
NextBio58410.
PROQ8NDB2.
SOURCESearch...

Entry information

Entry nameBANK1_HUMAN
AccessionPrimary (citable) accession number: Q8NDB2
Secondary accession number(s): A8K7W8 expand/collapse secondary AC list , B0F3S2, Q8N5K8, Q8NB56, Q8WYN5, Q9NWP2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 5, 2010
Last modified: April 16, 2014
This is version 87 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM