KEL

Protein identityUniProt · HPA

UniProt accession

P23276

Gene

KEL

Ensembl

ENSG00000197993

Chromosome

7

Canonical length

732 aa

Protein class

Blood group antigen proteins, Cancer-related genes, CD markers, Enzymes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Golgi apparatus,Plasma membrane,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

732 residues, UniProt reviewed canonical sequence.

>P23276|KEL
     1  MEGGDQSEEE PRERSQAGGM GTLWSQESTP EERLPVEGSR PWAVARRVLT AILILGLLLC
    61  FSVLLFYNFQ NCGPRPCETS VCLDLRDHYL ASGNTSVAPC TDFFSFACGR AKETNNSFQE
   121  LATKNKNRLR RILEVQNSWH PGSGEEKAFQ FYNSCMDTLA IEAAGTGPLR QVIEELGGWR
   181  ISGKWTSLNF NRTLRLLMSQ YGHFPFFRAY LGPHPASPHT PVIQIDQPEF DVPLKQDQEQ
   241  KIYAQIFREY LTYLNQLGTL LGGDPSKVQE HSSLSISITS RLFQFLRPLE QRRAQGKLFQ
   301  MVTIDQLKEM APAIDWLSCL QATFTPMSLS PSQSLVVHDV EYLKNMSQLV EEMLLKQRDF
   361  LQSHMILGLV VTLSPALDSQ FQEARRKLSQ KLRELTEQPP MPARPRWMKC VEETGTFFEP
   421  TLAALFVREA FGPSTRSAAM KLFTAIRDAL ITRLRNLPWM NEETQNMAQD KVAQLQVEMG
   481  ASEWALKPEL ARQEYNDIQL GSSFLQSVLS CVRSLRARIV QSFLQPHPQH RWKVSPWDVN
   541  AYYSVSDHVV VFPAGLLQPP FFHPGYPRAV NFGAAGSIMA HELLHIFYQL LLPGGCLACD
   601  NHALQEAHLC LKRHYAAFPL PSRTSFNDSL TFLENAADVG GLAIALQAYS KRLLRHHGET
   661  VLPSLDLSPQ QIFFRSYAQV MCRKPSPQDS HDTHSPPHLR VHGPLSSTPA FARYFRCARG
   721  ALLNPSSRCQ LW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KEL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

53 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KEL.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 136 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• KELL-NULL PHENOTYPE
• Kell blood group system

ReferencesPubMed · IEDB

Publications for KEL from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.09

gnomAD pLI

0

gnomAD missense Z

-0.65

DepMap mean gene effect

0.13

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• establishment of localization in cell
• intracellular calcium ion homeostasis
• intracellular magnesium ion homeostasis
• myelination
• negative regulation of potassium ion transmembrane transport
• potassium ion transmembrane transport
• protein processing
• regulation of axon diameter
• regulation of cell size
• skeletal muscle fiber development
• vasoconstriction

Molecular functions

• metal ion binding
• metalloendopeptidase activity

Cellular components

• cytosol
• Golgi apparatus
• membrane
• nucleoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Peptidase M13
• Peptidase M13, N-terminal domain
• Peptidase M13, C-terminal domain
• Metallopeptidase, catalytic domain superfamily
• Peptidase M13, domain 2
• Peptidase family M13
• Peptidase family M13

KeywordsUniProt

• Blood group antigen
• Cell membrane
• Disulfide bond
• Glycoprotein
• Hydrolase
• Membrane
• Metal-binding
• Metalloprotease
• Phosphoprotein
• Protease
• Signal-anchor
• Transmembrane
• Transmembrane helix
• Zinc