• Gene id: 55024

Gene Summary

• Gene Symbol: BANK1   Gene   UCSC   Ensembl
• Aliases: BANK
• Gene name: B cell scaffold protein with ankyrin repeats 1
• Alternate names: B-cell scaffold protein with ankyrin repeats,
• Gene location: 4q24 (71331754: 71435060)     Exons: 28     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphos
• OMIM: 610292

Protein Summary

• Protein general information: Q8NDB2  
  • Name: B cell scaffold protein with ankyrin repeats
  • Length: 785  
  • Mass: 89282
  • 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. {ECO
• Sequence:

  MLPAAPGKGLGSPDPAPCGPAPPGNTKDIIMIYEEDAEEWALYLTEVFLHVVKREAILLYRLENFSFRHLELLNL
  TSYKCKLLILSNSLLRDLTPKKCQFLEKILHSPKSVVTLLCGVKSSDQLYELLNISQSRWEISTEQEPEDYISVI
  QSIIFKDSEDYFEVNIPTDLRAKHSGEISERKEIEELSEASRNTIPLAVVLPTEIPCENPGEIFIILRDEVIGDT
  VEVEFTSSNKRIRTRPALWNKKVWCMKALEFPAGSVHVNVYCDGIVKATTKIKYYPTAKAKECLFRMADSGESLC
  QNSIEELDGVLTSIFKHEIPYYEFQSLQTEICSQNKYTHFKELPTLLHCAAKFGLKNLAIHLLQCSGATWASKMK
  NMEGSDPAHIAERHGHKELKKIFEDFSIQEIDINNEQENDYEEDIASFSTYIPSTQNPAFHHESRKTYGQSADGA
  EANEMEGEGKQNGSGMETKHSPLEVGSESSEDQYDDLYVFIPGADPENNSQEPLMSSRPPLPPPRPVANAFQLER
  PHFTLPGTMVEGQMERSQNWGHPGVRQETGDEPKGEKEKKEEEKEQEEEEDPYTFAEIDDSEYDMILANLSIKKK
  TGSRSFIINRPPAPTPRPTSIPPKEETTPYIAQVFQQKTARRQSDDDKFCGLPKKQDRARIESPAFSTLRGCLTD
  GQEELILLQEKVKNGKMSMDEALEKFKHWQMGKSGLEMIQQEKLRQLRDCIIGKRPEEENVYNKLTIVHHPGGKE
  TAHNENKFYNVHFSNKLPARPQVEKEFGFCCKKDH

• Structural information:
  • Protein Domains: (25..15-)
    (/note="TIR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00204-)
    (200..32-)
    (/note="DBB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00707"-)
  • Interpro: IPR036770  IPR017893  IPR041340  IPR035897  
  • Prosite: PS51376 PS50104
  • STRING: ENSP00000320509
• Other Databases: GeneCards:  BANK1  Malacards:  BANK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050869	negative regulation of B cell activation	IBA	biological process
GO:1990782	protein tyrosine kinase binding	IBA	molecular function
GO:0051898	negative regulation of protein kinase B signaling	IBA	biological process
GO:0042113	B cell activation	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0042113	B cell activation	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:1900165	negative regulation of interleukin-6 secretion	IEA	biological process
GO:0050869	negative regulation of B cell activation	IEA	biological process
GO:0045947	negative regulation of translational initiation	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0042113	B cell activation	IDA	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:1990782	protein tyrosine kinase binding	IPI	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP	biological process

Diseases

Associated diseases	References
Systemic sclerosis	KEGG:H01492
Systemic sclerosis	KEGG:H01492
Diffuse scleroderma	PMID:19815934
systemic scleroderma	PMID:19815934
Psoriasis	PMID:21989138
Systemic lupus erythematosus	PMID:18204447
type 1 diabetes mellitus	PMID:24342660
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray