Kell blood group glycoprotein - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P23276 (KELL_HUMAN)

Last modified July 22, 2008. Version 92. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Kell blood group glycoprotein
    EC=3.4.24.-
Alternative name(s):
    CD_antigen=CD238

Gene names

Name:

KEL

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	732 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Zinc endopeptidase with endothelin-3-converting enzyme activity.
Cofactor	Binds 1 zinc ion per subunit By similarity.
Subunit structure	Heterodimer with XK; disulfide-linked.
Subcellular location	Cell membrane; Single-pass type II membrane protein. Note= Spans the erythrocyte membrane, and is attached to the underlying cytoskeleton.
Polymorphism	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. 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. 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. 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. 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.
Sequence similarities	Belongs to the peptidase M13 family.

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Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane
Ligand	Metal-binding Zinc
Molecular function	Blood group antigen Hydrolase Metalloprotease Protease
PTM	Glycoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	protein amino acid N-linked glycosylation Ref.1 Traceable author statement. Source: ProtInc vasoconstriction Traceable author statement. Source: HGNC
Cellular component	integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc
Molecular function	endothelin-converting enzyme activity Inferred from direct assay. Source: HGNC protein binding Inferred from physical interaction. Source: HGNC
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Chain

1 – 732

732

Kell blood group glycoprotein

Regions

Topological domain

1 – 47

Cytoplasmic Potential

Transmembrane

48 – 67

Signal-anchor for type II membrane protein Potential

Topological domain

68 – 732

665

Extracellular Potential

Sites

Active site

582

By similarity

Active site

638

Proton donor By similarity

Metal binding

581

Zinc (catalytic) By similarity

Metal binding

585

Zinc (catalytic) By similarity

Metal binding

634

Zinc (catalytic) By similarity

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

115

N-linked (GlcNAc...) Potential

Glycosylation

191

N-linked (GlcNAc...); in KEL2 antigen

Glycosylation

345

N-linked (GlcNAc...) Potential

Glycosylation

627

N-linked (GlcNAc...) Potential

Disulfide bond

Interchain (with C-347 in XK)

Natural variations

Natural variant

163

A → T: dbSNP rs8175974.

Natural variant

180

R → P in KEL24 antigen.

Natural variant

193

T → M in KEL1/K antigen. dbSNP rs8176058.

Natural variant

248

R → Q in KEL25 antigen.

Natural variant

249

E → K in KEL27 antigen.

Natural variant

281

R → Q in KEL21/Kp(c) antigen.

Natural variant

281

R → W in KEL3/Kp(a) antigen. dbSNP rs8176059.

Natural variant

302

V → A in KEL17 antigen.

Natural variant

322

A → V in KEL22 antigen.

Natural variant

382

Q → R in KEL23 antigen.

Natural variant

406

R → Q in KEL26 antigen.

Natural variant

492

R → Q in KEL19 antigen.

Natural variant

494

E → V in KEL10/Ul(a) antigen.

Natural variant

548

H → R in KEL12 antigen.

Natural variant

597

L → P in KEL6/Js(a) antigen. dbSNP rs8176038.

Natural variant

726

S → A: dbSNP rs8176048.

Experimental info

Mutagenesis

C → S: Loss of Kell-XK complex

Mutagenesis

319

C → S: No loss of Kell-XK complex

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Sequences

Sequence

Length

Mass (Da)

Tools

P23276-1 [UniParc].

Last modified February 1, 1996. Version 2.
Checksum: 604A168AD300EDB4
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FASTA

732

82,824

        10         20         30         40         50         60 
MEGGDQSEEE PRERSQAGGM GTLWSQESTP EERLPVEGSR PWAVARRVLT AILILGLLLC 

        70         80         90        100        110        120 
FSVLLFYNFQ NCGPRPCETS VCLDLRDHYL ASGNTSVAPC TDFFSFACGR AKETNNSFQE 

       130        140        150        160        170        180 
LATKNKNRLR RILEVQNSWH PGSGEEKAFQ FYNSCMDTLA IEAAGTGPLR QVIEELGGWR 

       190        200        210        220        230        240 
ISGKWTSLNF NRTLRLLMSQ YGHFPFFRAY LGPHPASPHT PVIQIDQPEF DVPLKQDQEQ 

       250        260        270        280        290        300 
KIYAQIFREY LTYLNQLGTL LGGDPSKVQE HSSLSISITS RLFQFLRPLE QRRAQGKLFQ 

       310        320        330        340        350        360 
MVTIDQLKEM APAIDWLSCL QATFTPMSLS PSQSLVVHDV EYLKNMSQLV EEMLLKQRDF 

       370        380        390        400        410        420 
LQSHMILGLV VTLSPALDSQ FQEARRKLSQ KLRELTEQPP MPARPRWMKC VEETGTFFEP 

       430        440        450        460        470        480 
TLAALFVREA FGPSTRSAAM KLFTAIRDAL ITRLRNLPWM NEETQNMAQD KVAQLQVEMG 

       490        500        510        520        530        540 
ASEWALKPEL ARQEYNDIQL GSSFLQSVLS CVRSLRARIV QSFLQPHPQH RWKVSPWDVN 

       550        560        570        580        590        600 
AYYSVSDHVV VFPAGLLQPP FFHPGYPRAV NFGAAGSIMA HELLHIFYQL LLPGGCLACD 

       610        620        630        640        650        660 
NHALQEAHLC LKRHYAAFPL PSRTSFNDSL TFLENAADVG GLAIALQAYS KRLLRHHGET 

       670        680        690        700        710        720 
VLPSLDLSPQ QIFFRSYAQV MCRKPSPQDS HDTHSPPHLR VHGPLSSTPA FARYFRCARG 

       730 
ALLNPSSRCQ LW

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References

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[1]	"Molecular cloning and primary structure of Kell blood group protein." Lee S., Zambas E.D., Marsh W.L., Redman C.M. Proc. Natl. Acad. Sci. U.S.A. 88:6353-6357(1991) [PubMed: 1712490] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE.
[2]	"Organization of the gene encoding the human Kell blood group protein." Lee S., Zambas E., Green E.D., Redman C.M. Blood 85:1364-1370(1995) [PubMed: 7858266] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	SeattleSNPs program for genomic applications Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-163; MET-193; TRP-281; PRO-597 AND ALA-726.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain and Skin.
[5]	"PCR amplification and sequencing of the human KEL gene." Denomme G.A., Matheson K.A. Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-308.
[6]	"Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell blood group system." Lee S., Wu X., Reid M.E., Redman C.M. Transfusion 35:822-825(1995) [PubMed: 7570911] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 569-647, VARIANT BLOOD GROUP KEL6/KEL7.
[7]	"Association of XK and Kell blood group proteins." Russo D., Redman C., Lee S. J. Biol. Chem. 273:13950-13956(1998) [PubMed: 9593744] [Abstract] Cited for: SUBUNIT, DISULFIDE BOND, MUTAGENESIS OF CYS-72 AND CYS-319.
[8]	"Molecular basis of the Kell (K1) phenotype." Lee S., Wu X., Reid M.E., Zelinski T., Redman C.M. Blood 85:912-916(1995) [PubMed: 7849312] [Abstract] Cited for: VARIANT BLOOD GROUP KEL1/KEL2 MET-193.
[9]	"Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles." Lee S., Wu X., Son S., Naime D., Reid M.E., Okubo Y., Sistonen P., Redman C.M. Transfusion 36:490-494(1996) [PubMed: 8669078] [Abstract] Cited for: VARIANTS BLOOD GROUP KEL3/KEL4/KEL21; KEL11/17 AND KEL10.

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Web resources

BGMUT

Blood group antigen gene mutation database"

GeneReviews

SeattleSNPs

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Cross-references

Sequence databases
	M64934 mRNA. Translation: AAA03192.1. AF172627 AF172626 Genomic DNA. Translation: AAB33459.1. AY228336 Genomic DNA. Translation: AAO38053.1. BC003135 mRNA. Translation: AAH03135.1. BC050639 mRNA. Translation: AAH50639.1. AF279657 Genomic DNA. Translation: AAK69488.1. S80081 Genomic DNA. Translation: AAB47018.1.
RefSeq	NP_000411.1.
UniGene	Hs.368588
3D structure databases
ModBase	Search...
Protein family/group databases
MEROPS	M13.090.
Genome annotation databases
Ensembl	ENSG00000197993. Homo sapiens. [Contig view]
GeneID	3792.
KEGG	hsa:3792.
Organism-specific databases
H-InvDB	HIX0007164.
HGNC	HGNC:6308. KEL.
MIM	110900. gene+phenotype.
PharmGKB	PA30087.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOGENOM	P23276.
HOVERGEN	P23276.
Gene expression databases
ArrayExpress	P23276.
CleanEx	HS_KEL.
Family and domain databases
InterPro	IPR006025. Pept_M_Zn_BS. IPR000718. Peptidase_M13. IPR008753. Peptidase_M13_N. [Graphical view]
PANTHER	PTHR11733. Peptidase_M13. 1 hit.
Pfam	PF01431. Peptidase_M13. 1 hit. PF05649. Peptidase_M13_N. 1 hit. [Graphical view]
PRINTS	PR00786. NEPRILYSIN.
PROSITE	PS00142. ZINC_PROTEASE. 1 hit. [Graphical view]
ProDom	P23276. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

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Entry information

Entry name

KELL_HUMAN

Accession

Primary (citable) accession number: P23276
Secondary accession number(s): Q96RS8, Q99885

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	February 1, 1996
Last modified:	July 22, 2008
This is version 92 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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