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KEL Gene

protein-coding   GIFtS: 62

GC07M142348
Kell blood group, metallo-endopeptidase
(Previous names: Kell blood group, Kell blood group, metalloendopeptidase )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for KEL

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
CD238 1, 2
EC 3.4.24.- 3
ECE3 1, 2
Descriptions
CD238 antigen 3
Kell blood group 1
Kell blood group, metallo-endopeptidase 2
Kell blood group, metalloendopeptidase 1
External Ids
HGNC: 63081
Entrez Gene: 37922
UniProtKB: P232763
Ensembl: ENSG000001979937
Search outside databases for aliases for KEL gene

Previous GC identifers: GC07M140964 GC07M142032 GC07M142109 GC07M142155

Summaries
for KEL

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for KEL:
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]

UniProtKB/Swiss-Prot: KELL_HUMAN, P23276
Function: Zinc endopeptidase with endothelin-3-converting enzyme activity

Genomic Location
for KEL

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KEL gene  

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q33

KEL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M142348:     (about GC identifiers)

Start:
 142,348,323 bp from pter
End:
 142,369,625 bp from pter
Size:
 21,303 bases
Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 142,040,072-142,061,375     
RefSeq DNA sequence:
NC_000007.12  NT_007914.14  NT_079596.2  

Proteins
for KEL

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: KELL_HUMAN, P23276 (See protein sequence)
Recommended Name: Kell blood group glycoprotein  
Size: 732 amino acids; 82824 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Heterodimer with XK; disulfide-linked
Subcellular location: Cell membrane; Single-pass type II membrane protein. Note=Spans the
erythrocyte membrane, and is attached to the underlying cytoskeleton
Secondary accessions: Q96RS8 Q99885

REFSEQ proteins: NP_000411.1  

ENSEMBL proteins: 
ENSP00000347409 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Blood Group Kell Antigen)
Human Recombinant Proteins from Abnova (KEL)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005886 plasma membrane IEA--
GO:0005887 integral to plasma membrane TAS1712490
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Antibodies for KEL: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for KEL
R&D Systems Antibodies for KEL (Kell)
Antibodies from Abcam (Blood Group Kell Antigen), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (KEL)
Novus Biologicals Antibodies for KEL

Assays for KEL: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for KEL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
4 InterPro domains/families:
 IPR006025 Pept_M_Zn_BS
 IPR000718 Peptidase_M13
 IPR018497 Peptidase_M13_C
 IPR008753 Peptidase_M13_N


   GeneDecks  KEL for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry P23276

ProtoNet protein and cluster: P23276

2 Blocks protein families:
IPB000718 Neprilysin metalloprotease (M13) family signature
IPB008753 Peptidase M13


UniProtKB/Swiss-Prot: KELL_HUMAN, P23276
Similarity: Belongs to the peptidase M13 family

Gene Function
for KEL

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (KEL)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KEL)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000420

              Applied Biosystems Silencer® siRNAs for KEL

              Sigma-Aldrich siRNA and siRNA Panels for KEL  
                     Sigma-Aldrich shRNA for KEL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for KEL
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000420
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000420
                                 untagged cDNA clone in CMV expression vector: NM_000420 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_000420

UniProtKB/Swiss-Prot: KELL_HUMAN, P23276
Function: Zinc endopeptidase with endothelin-3-converting enzyme activity
Enzyme Number (IUBMB): EC 3.4.24.- 

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004222 metalloendopeptidase activity IEA--
GO:0005515 protein binding IPI7737196
GO:0008233 peptidase activity IEA--
GO:0008270 zinc ion binding IEA--
GO:0046872 metal ion binding IEA--
About this table

Pathways & Interactions
for KEL

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  KEL 


5/12 Interacting proteins for KEL (ENSP000003474093 P232762) via UniProtKB, MINT, and/or STRING (see all 12 )
InteractantInteraction Details
GeneCardExternal ID(s)
EDN3ENSP000003600673STRING (score=.969)
XKENSP000003678793STRING (score=.969)
EDN2ENSP000003616683STRING (score=.896)
XKR3ENSP000003317043STRING (score=.89)
XKRXENSP000003275703STRING (score=.89)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006487 protein amino acid N-linked glycosylation TAS1712490
GO:0006508 proteolysis IEA--
GO:0042310 vasoconstriction TAS15769748
About this table

Drugs & Compounds
for KEL

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for KEL

Transcripts
for KEL

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (KEL)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (KEL)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000420

              Sigma-Aldrich siRNA and siRNA Panels for KEL  
                     Sigma-Aldrich shRNA for KEL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_000420  

REFSEQ mRNAs for KEL gene: 

NM_000420.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_000420  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000420
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000420
                                 untagged cDNA clone in CMV expression vector: NM_000420 

Additional cDNA sequence: 

AK314831.1 BC003135.1 BC050639.1 M64934.2 

5 DOTS entries:

DT.413318  DT.413320  DT.95232563  DT.91667483  DT.121107654 

24/44 AceView cDNA sequences (see all 44 ):

BC050639 BM554115 BC003135 BI831690 AL040742 NM_000420 BX089674 AL040784 
AI076828 AU120607 AW294875 AL602009 BF995823 H62971 M64934 BE302724 
AW955759 R98067 BF082447 AA860253 AA333985 BE207538 AA781922 BE302535 

highest scoring ESTs for KEL:

M64934 BC003135 BC050639 BE302535 BE302724 AA332664 AA781922 AA860253 AA910737 AI147411 

Unigene Cluster for KEL:

Kell blood group, metallo-endopeptidase
Hs.368588  [show with all ESTs]
Unigene Representative Sequence: BC003135


GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KEL (see all 8 )

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:                                                              -                 -                                                                           

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

About this scheme

ECgene alternative splicing isoforms for KEL

1 Ensembl transcript including schematic representation:
ENST00000355265  

Expression
for KEL

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

KEL expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for KEL

1 / 2 / 3

3 probe-sets matching KEL gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
38197_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M64934 1.00 1.00 1.00 1

206077_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000420 0.60 1.00 0.82 1

206077_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  KEL for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GAATCAGAGC

SOURCE GeneReport for Unigene cluster: Hs.368588

Expression variation in blood from EXPOLDB for KEL

Orthologs
for KEL

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for KEL gene from 5 species
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 KEL1   -- Kell blood group, metallo-endopeptidase 84.34(n)
78.54(a)		 482743  XM_539859.2  XP_539859.2 
chimpanzee
(Pan troglodytes)		 KEL1   -- Kell blood group, metallo-endopeptidase 95.27(n)
94.19(a)		 463801  XM_519445.2  XP_519445.2 
rat
(Rattus norvegicus)		 Kel1   -- Kell blood group, metallo-endopeptidase 77.65(n)
70.55(a)		 297025  XM_216130.4  XP_216130.4 
mouse
(Mus musculus)		 Kel1, 5 6 (20.50 cM)5
 Kell blood group1, 5 80.08(n)1
74.05(a)1		 239251  NM_032540.21  NP_115929.21 
 AF2528705  AF3363785  (see all 10)
chicken
(Gallus gallus)		 KEL1   -- Kell blood group, metallo-endopeptidase 53.4(n)
44.32(a)		 418306  XM_416529.2  XP_416529.2 
About this table        Species with no ortholog for KEL

ENSEMBL Gene Tree for KEL

Paralogs
for KEL

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for KEL gene
PHEX2  

SNPs/Variants
for KEL

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: KELL_HUMAN, P23276
Polymorphism: 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. 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. 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. 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. 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


10/201 NCBI SNPs in KEL are shown (see all 201 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 117)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
rs81759521,2
A,C,F,H142371582(-) ATCATC/ATTCCT 1 -- ng319Minor allele frequency- A:0.11NS EU EA WA 880
--
rs81759541,2
A,C,F142371360(-) CTTAAT/CCAAAA 1 -- ng311Minor allele frequency- C:0.04NS 46
rs81759561,2
C,F,H142370986(-) ACTTTC/TATGAT 1 -- ng31 tfbs39Minor allele frequency- T:0.02NS EU EA WA NA 638
rs81760381,2
C,F,H142350235(-) CTGCCT/CCGCCT 1 P/L mis1 ese316Minor allele frequency- C:0.05NS EU EA WA 1584
--
rs81760581,2
C,F,H142365130(-) CCGAAC/TGCTGA 1 T/M mis1 ese314Minor allele frequency- T:0.01NS EU EA WA 1342
--
rs81759551,2
A,C,F142371039(-) ATTTTT/CCCCAA 1 -- ng317Minor allele frequency- C:0.18NS 704
rs15241361,2
C,F,H142370462(-) AGATGA/GCAAAA 1 -- ng3113Minor allele frequency- G:0.05EA NA NS EU WA 932
--
rs18802491,2
C,F142370901(-) CACCAT/AGGCCC 1 -- ng313Minor allele frequency- A:0.06MN NS 276
--
rs81759531,2
C,F142371549(-) TTTGAT/CTGATA 1 -- ng31 tfbs31Minor allele frequency- C:0.07NS 46
rs22932661,2
C,H142369414(-) ACAGAT/CGGTAA 1 /T mis19Minor allele frequency- C:0.01EA EU WA 2334
About this table

HapMap Linkage Disequilibrium images for KEL (up to first 250kb)

Disorders & Mutations
for KEL

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 110900

Blood Group Antigen Gene Mutation Database (BGMUT) Kell blood group system 
Human Gene Mutation Database: KEL
Genetic Association Database: KEL
Human Genome Epidemiology Navigator: KEL (4 documents)

Medical News
for KEL

(Possibly Related Articles in Doctor's Guide)
About This Section

   --

Publications
for KEL

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/41 PubMed articles for KEL gene (see all 41 ):

Search for KEL

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing KEL

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section
Entrez Gene: 3792 HGNC: 6308 AceView: KEL Ensembl:ENSG00000197993 euGenes: HUgn3792
ECgene: KEL H-InvDB: KEL

Other Databases showing KEL

(According to HUGE)
About This Section

   --

Specialized Databases showing KEL

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=kell
GeneReviewshttp://www.genetests.org/query?gene=KEL
SeattleSNPshttp://pga.gs.washington.edu/data/kel/

Licensable Technologies
for KEL

(Available from WIS Yeda, Salk, Tufts)
About This Section

  --

Services
for KEL

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for KEL:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
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  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for KEL-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for KEL Antibodies for KEL
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for KEL Browse small molecules at Sigma-Aldrich
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 Search Tocris compounds for KEL




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 Antibodies for KEL

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