• Gene id: 3792

Gene Summary

• Gene Symbol: KEL   Gene   UCSC   Ensembl
• Aliases: CD238, ECE3, Kell
• Gene name: Kell metallo-endopeptidase (Kell blood group)
• Alternate names: kell blood group glycoprotein, Kell blood group, metallo-endopeptidase, Kell glycoprotein, kell blood group antigen, truncated Kell blood group glycoprotein,
• Gene location: 7q34 (142962362: 142941113)     Exons: 20     NC_000007.14
• Gene summary(Entrez): This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains se
• OMIM: 603080

Protein Summary

• Protein general information: P23276  
  • Name: Kell blood group glycoprotein (EC 3.4.24. ) (CD antigen CD238)
  • Length: 732  
  • Mass: 82824
  • Tissue specificity: Expressed at high levels in erythrocytes and testis (in Sertoli cells), and, at lower levels, in skeletal muscle, tonsils (in follicular dendritic cells), lymph node, spleen and appendix (at protein level). Also expressed in many adult
• Sequence:

  MEGGDQSEEEPRERSQAGGMGTLWSQESTPEERLPVEGSRPWAVARRVLTAILILGLLLCFSVLLFYNFQNCGPR
  PCETSVCLDLRDHYLASGNTSVAPCTDFFSFACGRAKETNNSFQELATKNKNRLRRILEVQNSWHPGSGEEKAFQ
  FYNSCMDTLAIEAAGTGPLRQVIEELGGWRISGKWTSLNFNRTLRLLMSQYGHFPFFRAYLGPHPASPHTPVIQI
  DQPEFDVPLKQDQEQKIYAQIFREYLTYLNQLGTLLGGDPSKVQEHSSLSISITSRLFQFLRPLEQRRAQGKLFQ
  MVTIDQLKEMAPAIDWLSCLQATFTPMSLSPSQSLVVHDVEYLKNMSQLVEEMLLKQRDFLQSHMILGLVVTLSP
  ALDSQFQEARRKLSQKLRELTEQPPMPARPRWMKCVEETGTFFEPTLAALFVREAFGPSTRSAAMKLFTAIRDAL
  ITRLRNLPWMNEETQNMAQDKVAQLQVEMGASEWALKPELARQEYNDIQLGSSFLQSVLSCVRSLRARIVQSFLQ
  PHPQHRWKVSPWDVNAYYSVSDHVVVFPAGLLQPPFFHPGYPRAVNFGAAGSIMAHELLHIFYQLLLPGGCLACD
  NHALQEAHLCLKRHYAAFPLPSRTSFNDSLTFLENAADVGGLAIALQAYSKRLLRHHGETVLPSLDLSPQQIFFR
  SYAQVMCRKPSPQDSHDTHSPPHLRVHGPLSSTPAFARYFRCARGALLNPSSRCQLW

• Structural information:
  • Protein Domains: (76..73-)
    (/note="Peptidase-M13)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01233"-)
  • Interpro: IPR029737  IPR024079  IPR000718  IPR018497  IPR042089   IPR008753  
  • Prosite: PS51885 PS00142
  • CDD: cd08662
  • STRING: ENSP00000347409
• Other Databases: GeneCards:  KEL  Malacards:  KEL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042310	vasoconstriction	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901380	negative regulation of potassium ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0031133	regulation of axon diameter	IEA	biological process
GO:0010961	cellular magnesium ion homeostasis	IEA	biological process
GO:0008361	regulation of cell size	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq