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Protein

Kell blood group glycoprotein

Gene

KEL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Blood group antigen, Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-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

HGNCiHGNC:6308. KEL.

Subcellular locationi

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

GO - Cellular componenti

  • integral component of membrane Source: HGNC
  • plasma membrane Source: Reactome
Complete GO annotation...

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.
MIMi110900. phenotype.
OpenTargetsiENSG00000197993.
ENSG00000276615.
Orphaneti157938. Joker disease.
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...)Sequence analysis1
Glycosylationi115N-linked (GlcNAc...)Sequence analysis1
Glycosylationi191N-linked (GlcNAc...); in KEL2 antigen1 Publication1
Glycosylationi345N-linked (GlcNAc...)Sequence analysis1
Glycosylationi627N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP23276.
PaxDbiP23276.
PeptideAtlasiP23276.
PRIDEiP23276.

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.
CleanExiHS_KEL.
ExpressionAtlasiP23276. baseline and differential.
GenevisibleiP23276. HS.

Organism-specific databases

HPAiHPA042391.

Interactioni

Subunit structurei

Heterodimer with XK; disulfide-linked.1 Publication

Protein-protein interaction databases

BioGridi109993. 4 interactors.
IntActiP23276. 3 interactors.
MINTiMINT-1464824.
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.
OMAiHYAAFPL.
OrthoDBiEOG091G033Z.
PhylomeDBiP23276.
TreeFamiTF315192.

Family and domain databases

CDDicd08662. M13. 1 hit.
InterProiIPR029737. KEL.
IPR000718. Peptidase_M13.
IPR018497. Peptidase_M13_C.
IPR008753. Peptidase_M13_N.
[Graphical view]
PANTHERiPTHR11733. PTHR11733. 1 hit.
PTHR11733:SF128. PTHR11733:SF128. 1 hit.
PfamiPF01431. Peptidase_M13. 1 hit.
PF05649. Peptidase_M13_N. 1 hit.
[Graphical view]
PRINTSiPR00786. NEPRILYSIN.
PROSITEiPS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 → T.1 PublicationCorresponds to variant rs8175974dbSNPEnsembl.1
Natural variantiVAR_006731180R → P in KEL24 antigen. 1 PublicationCorresponds to variant rs61729039dbSNPEnsembl.1
Natural variantiVAR_006732193T → M in KEL1/K antigen. 2 PublicationsCorresponds to variant rs8176058dbSNPEnsembl.1
Natural variantiVAR_015120248R → Q in KEL25 antigen. Corresponds to variant rs61729040dbSNPEnsembl.1
Natural variantiVAR_015121249E → K in KEL27 antigen. Corresponds to variant rs61729042dbSNPEnsembl.1
Natural variantiVAR_006734281R → Q in KEL21/Kp(c) antigen. 1 PublicationCorresponds to variant rs61729036dbSNPEnsembl.1
Natural variantiVAR_006733281R → W in KEL3/Kp(a) antigen. 2 PublicationsCorresponds to variant rs8176059dbSNPEnsembl.1
Natural variantiVAR_006735302V → A in KEL17 antigen. 1 PublicationCorresponds to variant rs61729034dbSNPEnsembl.1
Natural variantiVAR_015122322A → V in KEL22 antigen. Corresponds to variant rs61729037dbSNPEnsembl.1
Natural variantiVAR_015123382Q → R in KEL23 antigen. Corresponds to variant rs61729038dbSNPEnsembl.1
Natural variantiVAR_015124406R → Q in KEL26 antigen. Corresponds to variant rs61729041dbSNPEnsembl.1
Natural variantiVAR_015125492R → Q in KEL19 antigen. Corresponds to variant rs61729035dbSNPEnsembl.1
Natural variantiVAR_006736494E → V in KEL10/Ul(a) antigen. 1 PublicationCorresponds to variant rs61729032dbSNPEnsembl.1
Natural variantiVAR_015126548H → R in KEL12 antigen. Corresponds to variant rs61729033dbSNPEnsembl.1
Natural variantiVAR_006737597L → P in KEL6/Js(a) antigen. 2 PublicationsCorresponds to variant rs8176038dbSNPEnsembl.1
Natural variantiVAR_016266726S → A.1 PublicationCorresponds to variant rs8176048dbSNPEnsembl.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

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. 4 interactors.
IntActiP23276. 3 interactors.
MINTiMINT-1464824.
STRINGi9606.ENSP00000347409.

Protein family/group databases

MEROPSiM13.090.

PTM databases

iPTMnetiP23276.
PhosphoSitePlusiP23276.

Polymorphism and mutation databases

BioMutaiKEL.
DMDMi1346376.

Proteomic databases

MaxQBiP23276.
PaxDbiP23276.
PeptideAtlasiP23276.
PRIDEiP23276.

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.
GeneCardsiKEL.
HGNCiHGNC:6308. KEL.
HPAiHPA042391.
MIMi110900. phenotype.
613883. gene.
neXtProtiNX_P23276.
OpenTargetsiENSG00000197993.
ENSG00000276615.
Orphaneti157938. Joker disease.
PharmGKBiPA30087.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-375276. Peptide ligand-binding receptors.

Miscellaneous databases

GenomeRNAii3792.
PROiP23276.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197993.
CleanExiHS_KEL.
ExpressionAtlasiP23276. baseline and differential.
GenevisibleiP23276. HS.

Family and domain databases

CDDicd08662. M13. 1 hit.
InterProiIPR029737. KEL.
IPR000718. Peptidase_M13.
IPR018497. Peptidase_M13_C.
IPR008753. Peptidase_M13_N.
[Graphical view]
PANTHERiPTHR11733. PTHR11733. 1 hit.
PTHR11733:SF128. PTHR11733:SF128. 1 hit.
PfamiPF01431. Peptidase_M13. 1 hit.
PF05649. Peptidase_M13_N. 1 hit.
[Graphical view]
PRINTSiPR00786. NEPRILYSIN.
PROSITEiPS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKELL_HUMAN
AccessioniPrimary (citable) accession number: P23276
Secondary accession number(s): B2RBV4, Q96RS8, Q99885
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: February 1, 1996
Last modified: November 30, 2016
This is version 168 of the entry and version 2 of the sequence. [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. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  2. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Peptidase families
    Classification of peptidase families and list of entries
  8. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.