KEL Kell metallo-endopeptidase (Kell blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: KELprovided by HGNC
Official Full Name: Kell metallo-endopeptidase (Kell blood group)provided by HGNC
Primary source: HGNC:HGNC:6308
See related: Ensembl:ENSG00000197993 MIM:613883
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ECE3; Kell; CD238
Summary: 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]
Expression: Biased expression in testis (RPKM 20.5), bone marrow (RPKM 20.3) and 2 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 7q34

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (142941114..142962363, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142638201..142659503, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Leucoreduced red blood cells from transgenic mouse donors expressing high levels of the human KEL glycoprotein in an erythrocyte-specific manner (KEL(hi) donors) were transfused after the platelets, and anti-KEL responses were measured. Transfusion of platelets from wild-type C57BL/6 donors prior to KELhi red blood cell transfusion enhances the anti-KEL alloimmune response.
Title: Transfused platelets enhance alloimmune responses to transfused KEL-expressing red blood cells in a murine model.
Ten new silent KEL alleles were identified in Japanese individuals with the Ko phenotype.
Title: Silent KEL alleles identified from Japanese individuals with the K<sub>o</sub> phenotype.
description of four new KEL*01M alleles
Title: New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes.
The expression of Kell glycoprotein on RBCs is not critical to the erythrocyte function
Title: Kell and Kx blood group systems.
Through molecular genotyping we also identified polymorphisms in RhCE, Kell, Duffy, Colton, Lutheran and Scianna loci in donors and patients.
Title: Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.
A relatively increased KEL1 antigen expression in KEL:1,2null and KEL:1,2mod individuals suggest that the expression of Kell-XK complexes depends on the availability of the XK protein.
Title: Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population.
High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.
Title: High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.
After sequencing the whole KEL gene, we found three new missense mutations: c.455A>G (p.Tyr152Cys) at Exon 5, c.2111A>C (p.Pro704His) at Exon 19, and c.1726G>C (p.Gly576Arg) at Exon 16.
Title: Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes.
A new allele, KEL(Thr193Met, Pro326Leu), has a drastic effect on the Kell glycoprotein probably due to defects in protein trafficking or reduced membrane integration.
Title: Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
Sequence analysis of genomic DNA from 2 Caucasian Brazilian women revealed a new homozygous change in KEL Exon 2, a guanine to an adenine substitution at Position 71 (c.71G>A, NCBI_ss#: 831878329) leading to a premature stop codon.
Title: Two novel KEL alleles encoding K0 phenotypes in Brazilians.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Kell blood group system MedGen: C0022546 OMIM: 110900 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of Kell blood group, metallo-endopeptidase (KEL) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2887 (e-PCR)
- UniSTS:28309

SHGC-37612 (e-PCR)
- UniSTS:20661

SHGC-81465 (e-PCR)
- UniSTS:101341

KEL (e-PCR)
- UniSTS:73451

Homology

Homologs of the KEL gene: The KEL gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 229 organisms have orthologs with human gene KEL
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
cellular magnesium ion homeostasis	IEA Inferred from Electronic Annotation more info
myelination	IEA Inferred from Electronic Annotation more info
negative regulation of potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info
regulation of axon diameter	IEA Inferred from Electronic Annotation more info
regulation of cell size	IEA Inferred from Electronic Annotation more info
skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
vasoconstriction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytosol	IDA Inferred from Direct Assay more info
integral component of membrane	TAS Traceable Author Statement more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info
plasma membrane	IDA Inferred from Direct Assay more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: kell blood group glycoprotein

Names: Kell blood group, metallo-endopeptidase; Kell glycoprotein; kell blood group antigen; truncated Kell blood group glycoprotein

NP_000411.1

EC 3.4.24.-

XP_005250050.1

EC 3.4.24.-

XP_005250051.1

EC 3.4.24.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007492.2 RefSeqGene

Range

5054..26303

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000420.3 → NP_000411.1 kell blood group glycoprotein

See identical proteins and their annotated locations for NP_000411.1

Status: REVIEWED

Source sequence(s)

BC003135

Consensus CDS

CCDS34766.1

UniProtKB/Swiss-Prot

P23276

UniProtKB/TrEMBL

A0A077QP03

Related

ENSP00000347409.2, ENST00000355265.7

Conserved Domains (1) summary

cd08662
Location:97 → 730

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p13 Primary Assembly

Range

142941114..142962363 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005249993.2 → XP_005250050.1 kell blood group glycoprotein isoform X1

See identical proteins and their annotated locations for XP_005250050.1

Conserved Domains (2) summary

cd08662
Location:109 → 742

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:106 → 744

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
XM_005249994.3 → XP_005250051.1 kell blood group glycoprotein isoform X2

See identical proteins and their annotated locations for XP_005250051.1

Conserved Domains (1) summary

cd08662
Location:1 → 421

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I