Q8NDB2 (BANK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 78.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: B-cell scaffold protein with ankyrin repeats | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 785 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. |
| 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 process | B-cell activation |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Systemic lupus erythematosus |
| Domain | ANK repeat Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | B 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 785 | 785 | B-cell scaffold protein with ankyrin repeats | PRO_0000251927 | |||||
Regions | |||||||||
| Domain | 200 – 327 | 128 | DBB | ||||||
| Repeat | 342 – 371 | 30 | ANK 1 | ||||||
| Repeat | 378 – 408 | 31 | ANK 2 | ||||||
| Region | 1 – 154 | 154 | Interaction with ITPR2 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 30 | 30 | Missing in isoform 3. | VSP_020803 | |||||
| Alternative sequence | 1 – 14 | 14 | Missing in isoform 2. | VSP_020804 | |||||
| Alternative sequence | 15 – 23 | 9 | PAPCGPAPP → MVNCHLKI in isoform 2. | VSP_020805 | |||||
| Alternative sequence | 24 – 156 | 133 | Missing in isoform 4. | VSP_034214 | |||||
| Natural variant | 61 | 1 | R → H Influences susceptibility to SLE. Ref.2 Corresponds to variant rs10516487 [ dbSNP | Ensembl ]. | VAR_027729 | |||||
| Natural variant | 383 | 1 | A → T Influences susceptibility to SLE. Ref.2 Ref.4 Corresponds to variant rs3733197 [ dbSNP | Ensembl ]. | VAR_027730 | |||||
| Natural variant | 650 | 1 | C → R. Ref.1 Ref.2 Ref.4 Ref.5 Ref.7 Corresponds to variant rs3113676 [ dbSNP | Ensembl ]. | VAR_027731 | |||||
Experimental info | |||||||||
| Sequence conflict | 143 | 1 | P → L in BAA91337. Ref.4 | ||||||
| Sequence conflict | 209 | 1 | N → D in BAC03685. Ref.4 | ||||||
| Sequence conflict | 303 | 1 | S → R in BAF84822. Ref.4 | ||||||
| Sequence conflict | 436 | 1 | H → R in BAB79255. Ref.1 | ||||||
| Sequence conflict | 557 | 1 | E → D in BAA91337. Ref.4 | ||||||
Sequences
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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. |
| IPI | IPI00179337. IPI00787141. IPI00787434. IPI00895834. |
| RefSeq | NP_001077376.2. NM_001083907.2. NP_001120979.2. NM_001127507.2. NP_060405.4. NM_017935.4. |
| UniGene | Hs.480400. |
3D structure databases | |
| ProteinModelPortal | Q8NDB2. |
| SMR | Q8NDB2. Positions 345-400. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8NDB2. 5 interactions. |
| STRING | 9606.ENSP00000320509. |
PTM databases | |
| PhosphoSite | Q8NDB2. |
Polymorphism databases | |
| DMDM | 308153627. |
Proteomic databases | |
| PaxDb | Q8NDB2. |
| PRIDE | Q8NDB2. |
Protocols and materials databases | |
| DNASU | 55024. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000322953; ENSP00000320509; ENSG00000153064. ENST00000428908; ENSP00000412748; ENSG00000153064. ENST00000444316; ENSP00000388817; ENSG00000153064. ENST00000504592; ENSP00000421443; ENSG00000153064. ENST00000508653; ENSP00000422314; ENSG00000153064. |
| GeneID | 55024. |
| KEGG | hsa:55024. |
| UCSC | uc003hvx.4. human. uc003hvy.4. human. uc010ill.3. human. |
Organism-specific databases | |
| CTD | 55024. |
| GeneCards | GC04P102332. |
| HGNC | HGNC:18233. BANK1. |
| HPA | HPA037002. |
| MIM | 152700. phenotype. 610292. gene. |
| neXtProt | NX_Q8NDB2. |
| PharmGKB | PA128394677. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG123833. |
| HOVERGEN | HBG080888. |
| InParanoid | Q8NDB2. |
| OMA | NVYCDGI. |
Gene expression databases | |
| Bgee | Q8NDB2. |
| CleanEx | HS_BANK1. |
| Genevestigator | Q8NDB2. |
| GermOnline | ENSG00000153064. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.20. 1 hit. |
| InterPro | IPR020683. Ankyrin_rpt-contain_dom. IPR017893. DBB_domain. [Graphical view] |
| SUPFAM | SSF48403. ANK. 1 hit. |
| PROSITE | PS50297. ANK_REP_REGION. False negative. PS50088. ANK_REPEAT. False negative. PS51376. DBB. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | BANK1. human. |
| GenomeRNAi | 55024. |
| NextBio | 58410. |
| SOURCE | Search... |
Entry information
| Entry name | BANK1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NDB2 Secondary accession number(s): A8K7W8 Q9NWP2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
