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Protein

Kell blood group glycoprotein

Gene

KEL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3.1 Publication

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi581Zinc; catalyticPROSITE-ProRule annotation1
Active sitei5821
Metal bindingi585Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi634Zinc; catalyticPROSITE-ProRule annotation1
Active sitei638Proton donorPROSITE-ProRule annotation1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • metalloendopeptidase activity Source: HGNC

GO - Biological processi

Keywordsi

Molecular functionBlood group antigen, Hydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors

Protein family/group databases

MEROPSiM13.090

Names & Taxonomyi

Protein namesi
Recommended name:
Kell blood group glycoprotein (EC:3.4.24.-)
Alternative name(s):
CD_antigen: CD238
Gene namesi
Name:KEL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000197993.7
HGNCiHGNC:6308 KEL
MIMi613883 gene
neXtProtiNX_P23276

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 47CytoplasmicSequence analysisAdd BLAST47
Transmembranei48 – 67Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini68 – 732ExtracellularSequence analysisAdd BLAST665

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi72C → S: Loss of Kell-XK complex. 1 Publication1
Mutagenesisi319C → S: No loss of Kell-XK complex. 1 Publication1
Mutagenesisi582E → G: Loss of catalytic activity. 1 Publication1

Organism-specific databases

DisGeNETi3792
MalaCardsiKEL
MIMi110900 phenotype
OpenTargetsiENSG00000197993
PharmGKBiPA30087

Polymorphism and mutation databases

BioMutaiKEL
DMDMi1346376

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000782271 – 732Kell blood group glycoproteinAdd BLAST732

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei7PhosphoserineCombined sources1
Disulfide bondi72Interchain (with C-347 in XK)1 Publication
Glycosylationi94N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi115N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi191N-linked (GlcNAc...) asparagine; in KEL2 antigen1 Publication1
Glycosylationi345N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi627N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP23276
MaxQBiP23276
PaxDbiP23276
PeptideAtlasiP23276
PRIDEiP23276
ProteomicsDBi54076

PTM databases

iPTMnetiP23276
PhosphoSitePlusiP23276

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000197993 Expressed in 93 organ(s), highest expression level in right testis
CleanExiHS_KEL
ExpressionAtlasiP23276 baseline and differential
GenevisibleiP23276 HS

Interactioni

Subunit structurei

Heterodimer with XK; disulfide-linked.1 Publication

Protein-protein interaction databases

BioGridi109993, 6 interactors
IntActiP23276, 8 interactors
MINTiP23276
STRINGi9606.ENSP00000347409

Structurei

3D structure databases

ProteinModelPortaliP23276
SMRiP23276
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M13 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00760000119162
HOGENOMiHOG000245574
HOVERGENiHBG002194
InParanoidiP23276
KOiK06577
OMAiPAFARHF
OrthoDBiEOG091G033Z
PhylomeDBiP23276
TreeFamiTF315192

Family and domain databases

CDDicd08662 M13, 1 hit
Gene3Di3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR029737 KEL
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR008753 Peptidase_M13_N
PANTHERiPTHR11733 PTHR11733, 1 hit
PTHR11733:SF128 PTHR11733:SF128, 1 hit
PfamiView protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit
PRINTSiPR00786 NEPRILYSIN
PROSITEiView protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

P23276-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEGGDQSEEE PRERSQAGGM GTLWSQESTP EERLPVEGSR PWAVARRVLT
60 70 80 90 100
AILILGLLLC FSVLLFYNFQ NCGPRPCETS VCLDLRDHYL ASGNTSVAPC
110 120 130 140 150
TDFFSFACGR AKETNNSFQE LATKNKNRLR RILEVQNSWH PGSGEEKAFQ
160 170 180 190 200
FYNSCMDTLA IEAAGTGPLR QVIEELGGWR ISGKWTSLNF NRTLRLLMSQ
210 220 230 240 250
YGHFPFFRAY LGPHPASPHT PVIQIDQPEF DVPLKQDQEQ KIYAQIFREY
260 270 280 290 300
LTYLNQLGTL LGGDPSKVQE HSSLSISITS RLFQFLRPLE QRRAQGKLFQ
310 320 330 340 350
MVTIDQLKEM APAIDWLSCL QATFTPMSLS PSQSLVVHDV EYLKNMSQLV
360 370 380 390 400
EEMLLKQRDF LQSHMILGLV VTLSPALDSQ FQEARRKLSQ KLRELTEQPP
410 420 430 440 450
MPARPRWMKC VEETGTFFEP TLAALFVREA FGPSTRSAAM KLFTAIRDAL
460 470 480 490 500
ITRLRNLPWM NEETQNMAQD KVAQLQVEMG ASEWALKPEL ARQEYNDIQL
510 520 530 540 550
GSSFLQSVLS CVRSLRARIV QSFLQPHPQH RWKVSPWDVN AYYSVSDHVV
560 570 580 590 600
VFPAGLLQPP FFHPGYPRAV NFGAAGSIMA HELLHIFYQL LLPGGCLACD
610 620 630 640 650
NHALQEAHLC LKRHYAAFPL PSRTSFNDSL TFLENAADVG GLAIALQAYS
660 670 680 690 700
KRLLRHHGET VLPSLDLSPQ QIFFRSYAQV MCRKPSPQDS HDTHSPPHLR
710 720 730
VHGPLSSTPA FARYFRCARG ALLNPSSRCQ LW
Length:732
Mass (Da):82,824
Last modified:February 1, 1996 - v2
Checksum:i604A168AD300EDB4
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PHG0E9PHG0_HUMAN
Kell blood group glycoprotein
KEL
184Annotation score:
H0Y8A1H0Y8A1_HUMAN
Kell blood group glycoprotein
KEL
156Annotation score:
A0A0J9YXV8A0A0J9YXV8_HUMAN
Kell blood group glycoprotein
KEL
204Annotation score:
A0A0J9YXC0A0A0J9YXC0_HUMAN
Kell blood group glycoprotein
KEL
186Annotation score:
E7ETW3E7ETW3_HUMAN
Kell blood group glycoprotein
KEL
47Annotation score:

Polymorphismi

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).4 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016265163A → T1 PublicationCorresponds to variant dbSNP:rs8175974Ensembl.1
Natural variantiVAR_006731180R → P in KEL24 antigen. 1 PublicationCorresponds to variant dbSNP:rs61729039Ensembl.1
Natural variantiVAR_006732193T → M in KEL1/K antigen. 2 PublicationsCorresponds to variant dbSNP:rs8176058EnsemblClinVar.1
Natural variantiVAR_015120248R → Q in KEL25 antigen. Corresponds to variant dbSNP:rs61729040Ensembl.1
Natural variantiVAR_015121249E → K in KEL27 antigen. Corresponds to variant dbSNP:rs61729042Ensembl.1
Natural variantiVAR_006734281R → Q in KEL21/Kp(c) antigen. 1 PublicationCorresponds to variant dbSNP:rs61729036Ensembl.1
Natural variantiVAR_006733281R → W in KEL3/Kp(a) antigen. 2 PublicationsCorresponds to variant dbSNP:rs8176059Ensembl.1
Natural variantiVAR_006735302V → A in KEL17 antigen. 1 PublicationCorresponds to variant dbSNP:rs61729034Ensembl.1
Natural variantiVAR_015122322A → V in KEL22 antigen. Corresponds to variant dbSNP:rs61729037Ensembl.1
Natural variantiVAR_015123382Q → R in KEL23 antigen. Corresponds to variant dbSNP:rs61729038Ensembl.1
Natural variantiVAR_015124406R → Q in KEL26 antigen. Corresponds to variant dbSNP:rs61729041Ensembl.1
Natural variantiVAR_015125492R → Q in KEL19 antigen. Corresponds to variant dbSNP:rs61729035Ensembl.1
Natural variantiVAR_006736494E → V in KEL10/Ul(a) antigen. 1 PublicationCorresponds to variant dbSNP:rs61729032Ensembl.1
Natural variantiVAR_015126548H → R in KEL12 antigen. Corresponds to variant dbSNP:rs61729033Ensembl.1
Natural variantiVAR_006737597L → P in KEL6/Js(a) antigen. 2 PublicationsCorresponds to variant dbSNP:rs8176038EnsemblClinVar.1
Natural variantiVAR_016266726S → A1 PublicationCorresponds to variant dbSNP:rs8176048Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M64934 mRNA Translation: AAA03192.1
AF172627
, AF172609, AF172610, AF172611, AF172612, AF172613, AF172614, AF172615, AF172616, AF172617, AF172618, AF172619, AF172620, AF172621, AF172622, AF172623, AF172624, AF172625, AF172626 Genomic DNA Translation: AAB33459.1
AY228336 Genomic DNA Translation: AAO38053.1
AK314831 mRNA Translation: BAG37351.1
CH471198 Genomic DNA Translation: EAW51891.1
BC003135 mRNA Translation: AAH03135.1
BC050639 mRNA Translation: AAH50639.1
AF279657 Genomic DNA Translation: AAK69488.1
S80081 Genomic DNA Translation: AAB47018.1
CCDSiCCDS34766.1
RefSeqiNP_000411.1, NM_000420.2
UniGeneiHs.368588

Genome annotation databases

EnsembliENST00000355265; ENSP00000347409; ENSG00000197993
ENST00000615381; ENSP00000477793; ENSG00000276615
GeneIDi3792
KEGGihsa:3792
UCSCiuc003wcb.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M64934 mRNA Translation: AAA03192.1
AF172627
, AF172609, AF172610, AF172611, AF172612, AF172613, AF172614, AF172615, AF172616, AF172617, AF172618, AF172619, AF172620, AF172621, AF172622, AF172623, AF172624, AF172625, AF172626 Genomic DNA Translation: AAB33459.1
AY228336 Genomic DNA Translation: AAO38053.1
AK314831 mRNA Translation: BAG37351.1
CH471198 Genomic DNA Translation: EAW51891.1
BC003135 mRNA Translation: AAH03135.1
BC050639 mRNA Translation: AAH50639.1
AF279657 Genomic DNA Translation: AAK69488.1
S80081 Genomic DNA Translation: AAB47018.1
CCDSiCCDS34766.1
RefSeqiNP_000411.1, NM_000420.2
UniGeneiHs.368588

3D structure databases

ProteinModelPortaliP23276
SMRiP23276
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109993, 6 interactors
IntActiP23276, 8 interactors
MINTiP23276
STRINGi9606.ENSP00000347409

Protein family/group databases

MEROPSiM13.090

PTM databases

iPTMnetiP23276
PhosphoSitePlusiP23276

Polymorphism and mutation databases

BioMutaiKEL
DMDMi1346376

Proteomic databases

EPDiP23276
MaxQBiP23276
PaxDbiP23276
PeptideAtlasiP23276
PRIDEiP23276
ProteomicsDBi54076

Protocols and materials databases

DNASUi3792
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355265; ENSP00000347409; ENSG00000197993
ENST00000615381; ENSP00000477793; ENSG00000276615
GeneIDi3792
KEGGihsa:3792
UCSCiuc003wcb.4 human

Organism-specific databases

CTDi3792
DisGeNETi3792
EuPathDBiHostDB:ENSG00000197993.7
GeneCardsiKEL
HGNCiHGNC:6308 KEL
MalaCardsiKEL
MIMi110900 phenotype
613883 gene
neXtProtiNX_P23276
OpenTargetsiENSG00000197993
PharmGKBiPA30087
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00760000119162
HOGENOMiHOG000245574
HOVERGENiHBG002194
InParanoidiP23276
KOiK06577
OMAiPAFARHF
OrthoDBiEOG091G033Z
PhylomeDBiP23276
TreeFamiTF315192

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors

Miscellaneous databases

GenomeRNAii3792
PROiPR:P23276
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197993 Expressed in 93 organ(s), highest expression level in right testis
CleanExiHS_KEL
ExpressionAtlasiP23276 baseline and differential
GenevisibleiP23276 HS

Family and domain databases

CDDicd08662 M13, 1 hit
Gene3Di3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR029737 KEL
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR008753 Peptidase_M13_N
PANTHERiPTHR11733 PTHR11733, 1 hit
PTHR11733:SF128 PTHR11733:SF128, 1 hit
PfamiView protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit
PRINTSiPR00786 NEPRILYSIN
PROSITEiView protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKELL_HUMAN
AccessioniPrimary (citable) accession number: P23276
Secondary accession number(s): B2RBV4, Q96RS8, Q99885
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: February 1, 1996
Last modified: November 7, 2018
This is version 185 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  7. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  8. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
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