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P23276 (KELL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (8) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kell blood group glycoprotein

EC=3.4.24.-
Alternative name(s):
CD_antigen=CD238
Gene names
Name:KEL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length732 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3. Ref.10

Cofactor

Binds 1 zinc ion per subunit By similarity.

Subunit structure

Heterodimer with XK; disulfide-linked. Ref.9

Subcellular location

Cell membrane; Single-pass type II membrane protein. Note: Spans the erythrocyte membrane, and is attached to the underlying cytoskeleton.

Tissue specificity

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. Ref.11 Ref.12

Post-translational modification

N-glycosylated. Ref.12

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 732732Kell blood group glycoprotein
PRO_0000078227

Regions

Topological domain1 – 4747Cytoplasmic Potential
Transmembrane48 – 6720Helical; Signal-anchor for type II membrane protein; Potential
Topological domain68 – 732665Extracellular Potential

Sites

Active site5821
Active site6381Proton donor By similarity
Metal binding5811Zinc; catalytic By similarity
Metal binding5851Zinc; catalytic By similarity
Metal binding6341Zinc; catalytic By similarity

Amino acid modifications

Glycosylation941N-linked (GlcNAc...) Potential
Glycosylation1151N-linked (GlcNAc...) Potential
Glycosylation1911N-linked (GlcNAc...); in KEL2 antigen
Glycosylation3451N-linked (GlcNAc...) Potential
Glycosylation6271N-linked (GlcNAc...) Potential
Disulfide bond72Interchain (with C-347 in XK) Ref.9

Natural variations

Natural variant1631A → T. Ref.3
Corresponds to variant rs8175974 [ dbSNP | Ensembl ].
VAR_016265
Natural variant1801R → P in KEL24 antigen.
VAR_006731
Natural variant1931T → M in KEL1/K antigen. Ref.3 Ref.13
Corresponds to variant rs8176058 [ dbSNP | Ensembl ].
VAR_006732
Natural variant2481R → Q in KEL25 antigen.
VAR_015120
Natural variant2491E → K in KEL27 antigen.
VAR_015121
Natural variant2811R → Q in KEL21/Kp(c) antigen.
VAR_006734
Natural variant2811R → W in KEL3/Kp(a) antigen. Ref.3
Corresponds to variant rs8176059 [ dbSNP | Ensembl ].
VAR_006733
Natural variant3021V → A in KEL17 antigen.
Corresponds to variant rs61729034 [ dbSNP | Ensembl ].
VAR_006735
Natural variant3221A → V in KEL22 antigen.
VAR_015122
Natural variant3821Q → R in KEL23 antigen.
VAR_015123
Natural variant4061R → Q in KEL26 antigen.
VAR_015124
Natural variant4921R → Q in KEL19 antigen.
Corresponds to variant rs61729035 [ dbSNP | Ensembl ].
VAR_015125
Natural variant4941E → V in KEL10/Ul(a) antigen.
Corresponds to variant rs61729032 [ dbSNP | Ensembl ].
VAR_006736
Natural variant5481H → R in KEL12 antigen.
VAR_015126
Natural variant5971L → P in KEL6/Js(a) antigen. Ref.3
Corresponds to variant rs8176038 [ dbSNP | Ensembl ].
VAR_006737
Natural variant7261S → A. Ref.3
Corresponds to variant rs8176048 [ dbSNP | Ensembl ].
VAR_016266

Experimental info

Mutagenesis721C → S: Loss of Kell-XK complex. Ref.9
Mutagenesis3191C → S: No loss of Kell-XK complex. Ref.9
Mutagenesis5821E → G: Loss of catalytic activity. Ref.10

Sequences

Sequence LengthMass (Da)Tools
P23276 [UniParc].

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

FASTA73282,824
        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 

« Hide

References

« Hide 'large scale' references
[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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]SeattleSNPs variation discovery resource
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]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain and Skin.
[7]"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.
[8]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 569-647, VARIANT BLOOD GROUP KEL6/KEL7.
[9]"Association of XK and Kell blood group proteins."
Russo D., Redman C., Lee S.
J. Biol. Chem. 273:13950-13956(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH XK, DISULFIDE BOND, MUTAGENESIS OF CYS-72 AND CYS-319.
[10]"Proteolytic processing of big endothelin-3 by the kell blood group protein."
Lee S., Lin M., Mele A., Cao Y., Farmar J., Russo D., Redman C.
Blood 94:1440-1450(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, MUTAGENESIS OF GLU-582.
[11]"Expression of Kell blood group protein in nonerythroid tissues."
Russo D., Wu X., Redman C.M., Lee S.
Blood 96:340-346(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, INTERACTION WITH XK.
[12]"Transcriptional regulation of the KEL gene and Kell protein expression in erythroid and non-erythroid cells."
Camara-Clayette V., Rahuel C., Lopez C., Hattab C., Verkarre V., Bertrand O., Cartron J.P.
Biochem. J. 356:171-180(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, GLYCOSYLATION.
[13]"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] [Europe PMC] [Abstract]
Cited for: VARIANT BLOOD GROUP KEL1/KEL2 MET-193.
[14]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS BLOOD GROUP KEL3/KEL4/KEL21; KEL11/17 AND KEL10.
+Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GeneReviews
SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M64934 mRNA. Translation: AAA03192.1.
AF172627 expand/collapse EMBL AC list , 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.
RefSeqNP_000411.1. NM_000420.2.
UniGeneHs.368588.

3D structure databases

ProteinModelPortalP23276.
SMRP23276. Positions 79-732.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109993. 4 interactions.
IntActP23276. 2 interactions.
MINTMINT-1464824.
STRING9606.ENSP00000347409.

Protein family/group databases

MEROPSM13.090.

PTM databases

PhosphoSiteP23276.

Polymorphism databases

DMDM1346376.

Proteomic databases

PaxDbP23276.
PRIDEP23276.

Protocols and materials databases

DNASU3792.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355265; ENSP00000347409; ENSG00000197993.
ENST00000561891; ENSP00000457677; ENSG00000260040.
GeneID3792.
KEGGhsa:3792.
UCSCuc003wcb.3. human.

Organism-specific databases

CTD3792.
GeneCardsGC07M142638.
HGNCHGNC:6308. KEL.
HPAHPA042391.
MIM110900. phenotype.
613883. gene.
neXtProtNX_P23276.
Orphanet157938. Joker disease.
PharmGKBPA30087.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3590.
HOGENOMHOG000245574.
HOVERGENHBG002194.
InParanoidP23276.
KOK06577.
OMASYAQVMC.
PhylomeDBP23276.
TreeFamTF315192.

Gene expression databases

ArrayExpressP23276.
BgeeP23276.
CleanExHS_KEL.
GenevestigatorP23276.

Family and domain databases

InterProIPR000718. Peptidase_M13.
IPR018497. Peptidase_M13_C.
IPR008753. Peptidase_M13_N.
[Graphical view]
PANTHERPTHR11733. PTHR11733. 1 hit.
PfamPF01431. Peptidase_M13. 1 hit.
PF05649. Peptidase_M13_N. 1 hit.
[Graphical view]
PRINTSPR00786. NEPRILYSIN.
PROSITEPS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi3792.
NextBio14891.
PROP23276.
SOURCESearch...

Entry information

Entry nameKELL_HUMAN
AccessionPrimary (citable) accession number: P23276
Secondary accession number(s): B2RBV4, Q96RS8, Q99885
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: February 1, 1996
Last modified: March 19, 2014
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries