KEL (Kell metallo-endopeptidase (Kell blood group))

Gene

• Entrez ID: 3792
• Gene name: Kell metallo-endopeptidase (Kell blood group)
• Gene symbol: KEL
• Synonyms (NCBI Gene): CD238, ECE3, Kell
• Chromosome: 7
• Chromosome location: 7q34
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs8176038	A>G	Pathogenic, benign	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	15769748
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	7737196, 32296183, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008361	Process	Regulation of cell size	IEA
GO:0010961	Process	Intracellular magnesium ion homeostasis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9647734
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031133	Process	Regulation of axon diameter	IEA
GO:0042310	Process	Vasoconstriction	TAS	15769748
GO:0042552	Process	Myelination	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	IEA

Other IDs

• MIM: 613883
• HGNC: 6308
• e!Ensembl: ENSG00000197993

Protein

• UniProt ID: P23276
• Protein name: Kell blood group glycoprotein (EC 3.4.24.-) (CD antigen CD238)
• Protein function: Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05649	Peptidase_M13_N	99 → 482	Peptidase family M13	Family
  PF01431	Peptidase_M13	540 → 731	Peptidase family M13	Family

• Tissue specificity: 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:

  MEGGDQSEEEPRERSQAGGMGTLWSQESTPEERLPVEGSRPWAVARRVLTAILILGLLLC
  FSVLLFYNFQNCGPRPCETSVCLDLRDHYLASGNTSVAPCTDFFSFACGRAKETNNSFQE
  LATKNKNRLRRILEVQNSWHPGSGEEKAFQFYNSCMDTLAIEAAGTGPLRQVIEELGGWR
  ISGKWTSLNFNRTLRLLMSQYGHFPFFRAYLGPHPASPHTPVIQIDQPEFDVPLKQDQEQ
  KIYAQIFREYLTYLNQLGTLLGGDPSKVQEHSSLSISITSRLFQFLRPLEQRRAQGKLFQ
  MVTIDQLKEMAPAIDWLSCLQATFTPMSLSPSQSLVVHDVEYLKNMSQLVEEMLLKQRDF
  LQSHMILGLVVTLSPALDSQFQEARRKLSQKLRELTEQPPMPARPRWMKCVEETGTFFEP
  TLAALFVREAFGPSTRSAAMKLFTAIRDALITRLRNLPWMNEETQNMAQDKVAQLQVEMG
  ASEWALKPELARQEYNDIQLGSSFLQSVLSCVRSLRARIVQSFLQPHPQHRWKVSPWDVN
  AYYSVSDHVVVFPAGLLQPPFFHPGYPRAVNFGAAGSIMAHELLHIFYQLLLPGGCLACD
  NHALQEAHLCLKRHYAAFPLPSRTSFNDSLTFLENAADVGGLAIALQAYSKRLLRHHGET
  VLPSLDLSPQQIFFRSYAQVMCRKPSPQDSHDTHSPPHLRVHGPLSSTPAFARYFRCARG
  ALLNPSSRCQLW

• Sequence length: 732

Pathways

Reactome:

Peptide ligand-binding receptors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Kell blood group system	Pathogenic	rs1796939367	RCV003322723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KELL-NULL PHENOTYPE	Pathogenic	rs369569464	RCV000019296	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
KEL-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kel6 antigen	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KELL K/k BLOOD GROUP POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VEIN OF GALEN ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vein of Galen aneurysmal malformation	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alloimmunisation	Alloimmunisation	BEFREE	28597520, 30418129, 31403208		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	21623766	Associate	★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	BEFREE	6879675		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23581548		★☆☆☆☆ Found in Text Mining only