KEL Kell blood group, metallo-endopeptidase [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: KELprovided by HGNC
Official Full Name: Kell blood group, metallo-endopeptidaseprovided by HGNC
Primary source: HGNC:6308
See related: Ensembl:ENSG00000197993; HPRD:00194; MIM:613883; Vega:OTTHUMG00000157159
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; 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]

Help top of page

Genomic context

Location :: 7q33

Sequence :: Chromosome: 7; NC_000007.13 (142638201..142659503, complement)

See KEL in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.
Title: Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.
In screening 87665 unrelated healthy blood donors in China, two K(0) probands were detected; in exon 3, 185insT (Ser62Phe and a premature stop codon in exon 4
Title: Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype.
This is the first description of the KEL*1,3 allele encoding KEL1 and KEL3 on the same molecule.
Title: A novel KEL*1,3 allele with weak Kell antigen expression confirming the cis-modifier effect of KEL3.
Observational study of genetic testing. (HuGE Navigator)
Title: Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.
Kell K2 antigen is a catalytically active metalloprotease, but the rare Kell K1 antigen is inactive
Title: The Kell protein of the common K2 phenotype is a catalytically active metalloprotease, whereas the rare Kell K1 antigen is inactive. Identification of novel substrates for the Kell protein.
x-ray analysis of Kell blood group protein
Title: Active amino acids of the Kell blood group protein and model of the ectodomain based on the structure of neutral endopeptidase 24.11.
KEL6 red blood cells have endothelin-3-converting enzyme activity
Title: Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group system.
Results demonstrate the lack of Kell expression in rodent neuronal cells and strongly suggest the same for human cerebral tissue, in which the Kellprotein was exclusively observed on RBCs in cerebral blood vessels.
Title: The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P23276	P05305	EDN1	HPRD	PubMed
P23276	P20800	EDN2	HPRD	PubMed
P23276	P14138	EDN3	HPRD	PubMed
P23276	Q01844	EWSR1	HPRD	PubMed
P23276	P51811	XK	HPRD	PubMed
BioGRID:109993	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:109993	BioGRID:113603	TUBA1A	BioGRID	PubMed	Two-hybrid

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

Process	Evidence Code	Pubs
proteolysis	IEA Inferred from Electronic Annotation more info
vasoconstriction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
integral to membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: kell blood group glycoprotein

Names: kell blood group glycoprotein; kell blood group antigen

NP_000411.1

EC 3.4.24.-

Help top of page

NCBI Reference Sequences (RefSeq)

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_007492.1 RefSeqGene

Range

5001..26303

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000420.2 → NP_000411.1 kell blood group glycoprotein

Status: REVIEWED

Source sequence(s)

BC003135

Consensus CDS

CCDS34766.1

UniProtKB/Swiss-Prot

P23276

Related

ENSP00000347409, OTTHUMP00000211578, ENST00000355265, OTTHUMT00000347671

Conserved Domains (2) summary

COG3590
Location:94 – 732
Blast Score: 547

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

cd08662
Location:97 – 730
Blast Score: 1207

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

142638201..142659503, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p5 PATCHES

Genomic

NW_003571040.1 Reference GRCh37.p5 PATCHES

Range

1143861..1165163, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

136976490..136997792, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

142040072..142061375, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC099652.2 (10330..31632)	None
genomic	AF172627.1	AAB33459.1
genomic	AF279657.1	AAK69488.1
genomic	AM183928.1	CAJ75457.1
genomic	AM183929.1	CAJ75458.1
genomic	AM183930.1	CAJ75459.1
genomic	AY228336.1	AAO38053.1
genomic	CH236959.1 (916267..937570)	None
genomic	CH471198.2	EAW51891.1
		EAW51892.1
		EAW51893.1
genomic	S80081.1	AAB47018.1
mRNA	AK314831.1	BAG37351.1
mRNA	AW294875.1	None
mRNA	BC003135.1	AAH03135.1
mRNA	BC050639.1	AAH50639.1
mRNA	FN998902.1	CBS91665.1
mRNA	HE572750.1	CCC42286.1
mRNA	M64934.2	AAA03192.1
mRNA	S76770.1	AAB33389.1
other-genetic	DQ896776.2	ABM87775.1
other-genetic	EU176416.1	ABW03867.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P23276.2	GenPept	UniProtKB/Swiss-Prot:P23276
Q06AK5	GenPept	UniProtKB/TrEMBL:Q06AK5
Q09GN6	GenPept	UniProtKB/TrEMBL:Q09GN6
Q0KH83	GenPept	UniProtKB/TrEMBL:Q0KH83
Q0KH84	GenPept	UniProtKB/TrEMBL:Q0KH84
Q0KH85	GenPept	UniProtKB/TrEMBL:Q0KH85
Q0KH86	GenPept	UniProtKB/TrEMBL:Q0KH86
Q0KH87	GenPept	UniProtKB/TrEMBL:Q0KH87
Q0KH88	GenPept	UniProtKB/TrEMBL:Q0KH88
Q0KH89	GenPept	UniProtKB/TrEMBL:Q0KH89
Q0KH90	GenPept	UniProtKB/TrEMBL:Q0KH90
Q0KH91	GenPept	UniProtKB/TrEMBL:Q0KH91
Q0KH92	GenPept	UniProtKB/TrEMBL:Q0KH92
Q0KH93	GenPept	UniProtKB/TrEMBL:Q0KH93
Q0KH95	GenPept	UniProtKB/TrEMBL:Q0KH95
Q0KH97	GenPept	UniProtKB/TrEMBL:Q0KH97
Q16297	GenPept	UniProtKB/TrEMBL:Q16297
Q2A680	GenPept	UniProtKB/TrEMBL:Q2A680
Q2A681	GenPept	UniProtKB/TrEMBL:Q2A681
Q2A682	GenPept	UniProtKB/TrEMBL:Q2A682