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Aliases for KEL Gene

Aliases for KEL Gene

  • Kell Blood Group, Metallo-Endopeptidase 2 3 5
  • Kell Blood Group, Metalloendopeptidase 2
  • Kell Blood Group Glycoprotein 3
  • Kell Blood Group Antigen 3
  • Kell Blood Group 2
  • CD238 Antigen 4
  • EC 3.4.24.- 4
  • CD238 3
  • ECE3 3

External Ids for KEL Gene

Previous GeneCards Identifiers for KEL Gene

  • GC07M140964
  • GC07M142032
  • GC07M142109
  • GC07M142155
  • GC07M142348
  • GC07M142638
  • GC07M136976

Summaries for KEL Gene

Entrez Gene Summary for KEL Gene

  • 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 sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]

GeneCards Summary for KEL Gene

KEL (Kell Blood Group, Metallo-Endopeptidase) is a Protein Coding gene. Diseases associated with KEL include Lingual-Facial-Buccal Dyskinesia and Choreoacanthocytosis. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is ECE2.

UniProtKB/Swiss-Prot for KEL Gene

  • Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KEL Gene

Genomics for KEL Gene

Regulatory Elements for KEL Gene

Enhancers for KEL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F142926 1 Ensembl ENCODE 17.4 +35.2 35181 1.8 MAX CEBPB KEL C7orf34 EPHB6 OR6V1 OR9P1P TRBV30 TRPV5 TRPV6
GH07F142908 0.9 Ensembl ENCODE 17.4 +53.0 52951 2.4 CTCF RFX1 ESRRA ELF1 MNT RAD21 ZNF316 SMARCA4 IKZF1 ID3 KEL TRPV5 C7orf34 EPHB6 OR9P1P OR6V1 TRPV6
GH07F143125 0.5 Ensembl ENCODE 16.7 -163.6 -163620 1.0 ZNF316 JUND EMSY KEL TRPV5 C7orf34 TMEM139 PIP OR6W1P
GH07F142899 0.6 ENCODE 11.4 +63.6 63573 0.2 TRPV5 C7orf34 KEL TRPV6
GH07F143012 0.8 Ensembl ENCODE 11.1 -52.8 -52773 4.9 CTCF RAD21 YY1 FOSL1 ZNF316 SMC3 NFE2 MAFK NFE2L2 SRF OR9P1P OR6V1 TAS2R39 KEL TRBV11-2 OR9A2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KEL on UCSC Golden Path with GeneCards custom track

Genomic Location for KEL Gene

Chromosome:
7
Start:
142,941,114 bp from pter
End:
142,962,681 bp from pter
Size:
21,568 bases
Orientation:
Minus strand

Genomic View for KEL Gene

Genes around KEL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KEL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KEL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KEL Gene

Proteins for KEL Gene

  • Protein details for KEL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23276-KELL_HUMAN
    Recommended name:
    Kell blood group glycoprotein
    Protein Accession:
    P23276
    Secondary Accessions:
    • B2RBV4
    • Q96RS8
    • Q99885

    Protein attributes for KEL Gene

    Size:
    732 amino acids
    Molecular mass:
    82824 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Heterodimer with XK; disulfide-linked.

neXtProt entry for KEL Gene

Post-translational modifications for KEL Gene

Other Protein References for KEL Gene

Antibody Products

No data available for DME Specific Peptides for KEL Gene

Domains & Families for KEL Gene

Gene Families for KEL Gene

Graphical View of Domain Structure for InterPro Entry

P23276

UniProtKB/Swiss-Prot:

KELL_HUMAN :
  • Belongs to the peptidase M13 family.
Family:
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with KEL: view

Function for KEL Gene

Molecular function for KEL Gene

UniProtKB/Swiss-Prot Function:
Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3.

Enzyme Numbers (IUBMB) for KEL Gene

Gene Ontology (GO) - Molecular Function for KEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA 15769748
GO:0005515 protein binding IPI 7737196
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KEL: view
genes like me logo Genes that share phenotypes with KEL: view

Animal Models for KEL Gene

MGI Knock Outs for KEL:

Animal Model Products

  • Taconic Biosciences Mouse Models for KEL

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KEL

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for KEL Gene

Localization for KEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for KEL Gene

Cell membrane; Single-pass type II membrane protein. Note=Spans the erythrocyte membrane, and is attached to the underlying cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KEL Gene COMPARTMENTS Subcellular localization image for KEL gene
Compartment Confidence
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for KEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS 9647734
genes like me logo Genes that share ontologies with KEL: view

Pathways & Interactions for KEL Gene

genes like me logo Genes that share pathways with KEL: view

Gene Ontology (GO) - Biological Process for KEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0008361 regulation of cell size IEA --
GO:0010961 cellular magnesium ion homeostasis IEA --
GO:0031133 regulation of axon diameter IEA --
genes like me logo Genes that share ontologies with KEL: view

No data available for SIGNOR curated interactions for KEL Gene

Drugs & Compounds for KEL Gene

(1) Drugs for KEL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KEL: view

Transcripts for KEL Gene

Unigene Clusters for KEL Gene

Kell blood group, metallo-endopeptidase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KEL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KEL Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a ·
SP1: - -
SP2:
SP3: -
SP4:
SP5: - -
SP6:
SP7: - -
SP8:

ExUns: 18b ^ 19
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for KEL Gene

GeneLoc Exon Structure for
KEL
ECgene alternative splicing isoforms for
KEL

Expression for KEL Gene

mRNA expression in normal human tissues for KEL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KEL Gene

This gene is overexpressed in Testis (x23.6), Whole Blood (x5.0), and Brain - Spinal cord (cervical c-1) (x4.3).

Protein differential expression in normal tissues from HIPED for KEL Gene

This gene is overexpressed in Liver, secretome (41.7) and Placenta (18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KEL Gene



Protein tissue co-expression partners for KEL Gene

NURSA nuclear receptor signaling pathways regulating expression of KEL Gene:

KEL

SOURCE GeneReport for Unigene cluster for KEL Gene:

Hs.368588

mRNA Expression by UniProt/SwissProt for KEL Gene:

P23276-KELL_HUMAN
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 and fetal nonerythroid tissues, including brain, spleen, lymph nodes and bone marrow.
genes like me logo Genes that share expression patterns with KEL: view

Primer Products

Orthologs for KEL Gene

This gene was present in the common ancestor of animals.

Orthologs for KEL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KEL 34 35
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia LOC100855519 34
  • 84.13 (n)
KEL 35
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kel 34 16 35
  • 80.18 (n)
rat
(Rattus norvegicus)
Mammalia Kel 34
  • 77.65 (n)
cow
(Bos Taurus)
Mammalia KEL 34 35
  • 77.61 (n)
oppossum
(Monodelphis domestica)
Mammalia KEL 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 41 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KEL 34 35
  • 53.36 (n)
lizard
(Anolis carolinensis)
Reptilia KEL 35
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii KEL 35
  • 24 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nep3 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nep-17 35
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
OneToMany
Species where no ortholog for KEL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KEL Gene

ENSEMBL:
Gene Tree for KEL (if available)
TreeFam:
Gene Tree for KEL (if available)

Paralogs for KEL Gene

Variants for KEL Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KEL Gene

KELL_HUMAN-P23276
KEL is responsible for the Kell blood group system. The molecular basis of the K=KEL1/k=KEL2 blood group antigens is a single variation in position 193; Thr-193 corresponds to KEL2 and Met-193 to KEL1 (PubMed:7849312). The molecular basis of the Kpa=KEL3/Kpb=KEL4/Kpc=KEL21 blood group antigens is a single variation in position 281; Arg-281 corresponds to KEL4, Trp-281 to KEL3 and Gln-281 to KEL21 (PubMed:8669078). The molecular basis of the Jsa=KEL6/Jsb=KEL7 blood group antigens is a single variation in position 597; Leu-597 corresponds to KEL7 and Pro-597 to KEL6 (PubMed:7570911). The molecular basis of the KEL11/KEL17 blood group antigens is a single variation in position 302; Val-302 corresponds to KEL11 and Ala-302 to KEL17 (PubMed:8669078). The molecular basis of the KEL14/KEL24 blood group antigens is a single variation in position 180; Arg-180 corresponds to KEL14 and Pro-180 to KEL24 (PubMed:9354821).

Sequence variations from dbSNP and Humsavar for KEL Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs8176038 Pathogenic 142,943,026(-) CTGCC(C/T)CGCCT reference, missense
rs8176058 Benign 142,957,921(-) CCGAA(C/T)GCTGA reference, missense
rs10261078 -- 142,946,589(+) ATCAT(C/T)CTGGG intron-variant
rs10280245 -- 142,947,397(+) CCACT(A/G)CAGGA intron-variant
rs1042015 -- 142,941,359(-) CTCCA(A/C)ACCTC downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KEL Gene

Variant ID Type Subtype PubMed ID
esv2759569 CNV loss 17122850
nsv1030700 CNV gain 25217958
nsv520735 CNV loss 19592680
nsv526015 CNV gain 19592680
nsv831168 CNV gain 17160897

Variation tolerance for KEL Gene

Residual Variation Intolerance Score: 88.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KEL Gene

Human Gene Mutation Database (HGMD)
KEL
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KEL

Disorders for KEL Gene

MalaCards: The human disease database

(4) MalaCards diseases for KEL Gene - From: DISEASES

Disorder Aliases PubMed IDs
lingual-facial-buccal dyskinesia
  • oro-facial dyskinesia
choreoacanthocytosis
  • neuroacanthocytosis
fetal erythroblastosis
  • ef - erythroblastosis foetalis
choreatic disease
  • chorea
- elite association - COSMIC cancer census association via MalaCards
Search KEL in MalaCards View complete list of genes associated with diseases

Relevant External Links for KEL

Genetic Association Database (GAD)
KEL
Human Genome Epidemiology (HuGE) Navigator
KEL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KEL
genes like me logo Genes that share disorders with KEL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KEL Gene

Publications for KEL Gene

  1. Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles. (PMID: 8669078) Lee S. … Redman C.M. (Transfusion 1996) 3 4 22 64
  2. Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell blood group system. (PMID: 7570911) Lee S. … Redman C.M. (Transfusion 1995) 3 4 22 64
  3. Molecular basis of the Kell (K1) phenotype. (PMID: 7849312) Lee S. … Redman C.M. (Blood 1995) 3 4 22 64
  4. Organization of the gene encoding the human Kell blood group protein. (PMID: 7858266) Lee S. … Redman C.M. (Blood 1995) 3 4 22 64
  5. The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells. (PMID: 7683930) Lee S. … Redman C.M. (Blood 1993) 2 3 22 64

Products for KEL Gene

Sources for KEL Gene

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