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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi581Zinc; catalyticPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei5821
Metal bindingi585Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi634Zinc; catalyticPROSITE-ProRule annotation1
Active sitei638Proton donorPROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-375276 Peptide ligand-binding receptors

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M13.090

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Kell blood group glycoprotein (EC:3.4.24.-)
Alternative name(s):
CD_antigen: CD238
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KEL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000197993.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6308 KEL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613883 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P23276

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 47CytoplasmicSequence analysisAdd BLAST47
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei48 – 67Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini68 – 732ExtracellularSequence analysisAdd BLAST665

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
3792

MalaCards human disease database

More...
MalaCardsi
KEL
MIMi110900 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197993

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30087

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KEL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1346376

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000782271 – 732Kell blood group glycoproteinAdd BLAST732

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei7PhosphoserineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi72Interchain (with C-347 in XK)1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P23276

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P23276

MaxQB - The MaxQuant DataBase

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MaxQBi
P23276

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P23276

PeptideAtlas

More...
PeptideAtlasi
P23276

PRoteomics IDEntifications database

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PRIDEi
P23276

ProteomicsDB human proteome resource

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ProteomicsDBi
54076

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P23276

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P23276

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197993 Expressed in 93 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_KEL

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P23276 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P23276 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with XK; disulfide-linked.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109993, 6 interactors

Protein interaction database and analysis system

More...
IntActi
P23276, 8 interactors

Molecular INTeraction database

More...
MINTi
P23276

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000347409

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P23276

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P23276

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M13 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3624 Eukaryota
COG3590 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161830

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000245574

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG002194

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P23276

KEGG Orthology (KO)

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KOi
K06577

Identification of Orthologs from Complete Genome Data

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OMAi
PAFARHF

Database of Orthologous Groups

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OrthoDBi
282463at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P23276

TreeFam database of animal gene trees

More...
TreeFami
TF315192

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08662 M13, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.390.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029737 KEL
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR008753 Peptidase_M13_N

The PANTHER Classification System

More...
PANTHERi
PTHR11733 PTHR11733, 1 hit
PTHR11733:SF128 PTHR11733:SF128, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00786 NEPRILYSIN

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00142 ZINC_PROTEASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i604A168AD300EDB4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8A1H0Y8A1_HUMAN
Kell blood group glycoprotein
KEL
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YXV8A0A0J9YXV8_HUMAN
Kell blood group glycoprotein
KEL
204Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YXC0A0A0J9YXC0_HUMAN
Kell blood group glycoprotein
KEL
186Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ETW3E7ETW3_HUMAN
Kell blood group glycoprotein
KEL
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS34766.1

NCBI Reference Sequences

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RefSeqi
NP_000411.1, NM_000420.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.368588

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000355265; ENSP00000347409; ENSG00000197993
ENST00000615381; ENSP00000477793; ENSG00000276615

Database of genes from NCBI RefSeq genomes

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GeneIDi
3792

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3792

UCSC genome browser

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UCSCi
uc003wcb.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
jPOSTiP23276
MaxQBiP23276
PaxDbiP23276
PeptideAtlasiP23276
PRIDEiP23276
ProteomicsDBi54076

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3792
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3792
DisGeNETi3792
EuPathDBiHostDB:ENSG00000197993.7

GeneCards: human genes, protein and diseases

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GeneCardsi
KEL
HGNCiHGNC:6308 KEL
MalaCardsiKEL
MIMi110900 phenotype
613883 gene
neXtProtiNX_P23276
OpenTargetsiENSG00000197993
PharmGKBiPA30087

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00940000161830
HOGENOMiHOG000245574
HOVERGENiHBG002194
InParanoidiP23276
KOiK06577
OMAiPAFARHF
OrthoDBi282463at2759
PhylomeDBiP23276
TreeFamiTF315192

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3792

Protein Ontology

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PROi
PR:P23276

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKELL_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P23276
Secondary accession number(s): B2RBV4, Q96RS8, Q99885
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: February 1, 1996
Last modified: January 16, 2019
This is version 187 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. Peptidase families
    Classification of peptidase families and list of entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  8. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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