Document Detail


Identification of two new members, XPLAC and XTES, of the XK family.
MedLine Citation:
PMID:  16431037     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
XK, a putative membrane transporter, is a component of the XK/Kell complex of the Kell blood group system. XK's substrate is unknown but absence of the protein, as occurs in the McLeod phenotype, is associated with red cell acanthocytosis and late onset central nervous system and neuromuscular abnormalities known as the McLeod syndrome. We have cloned two cDNAs, XPLAC (GenBank accession no. AY589511) and XTES (GenBank accession no. AY989815), which are closely related to XK and define them together as the XK family. XPLAC has a 2.9 kb cDNA that encodes 462 amino acids and XTES has a 1.6 kb cDNA coding 459 amino acids. The predicted molecular weights are 53.6 kDa for XPLAC and 53.4 kDa for XTES, which are similar to that of XK, which is 50.9 kDa. Unlike XK which is ubiquitously expressed XPLAC is expressed mostly in placenta and adrenal gland while XTES is exclusively expressed in primate testis. XPLAC has 37% and XTES has 31% amino acid identity with XK protein and they are predicted to have a similar topology to XK. XPLAC, like XK, has 3 exons and is located on X chromosome at q22.1, while XTES has 4 exons and is located at 22q11.1. Phylogenetic analysis shows that there are at least 5 additional vertebrate genes that are evolutionarily distantly related to the XK family. A domain with consensus sequences (ced-8 domain) for the extended family is described.
Authors:
Giulia Calenda; Jianbin Peng; Colvin M Redman; Quan Sha; Xu Wu; Soohee Lee
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2006-01-20
Journal Detail:
Title:  Gene     Volume:  370     ISSN:  0378-1119     ISO Abbreviation:  Gene     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-03-14     Completed Date:  2006-05-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7706761     Medline TA:  Gene     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  6-16     Citation Subset:  IM    
Affiliation:
The Lindsley F. Kimball Research Institute of the New York Blood Center, 310 East 67th Street, New York, NY 10021, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AY589511;  AY989815
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MeSH Terms
Descriptor/Qualifier:
Acanthocytes / metabolism,  pathology
Adrenal Glands / cytology,  metabolism
Amino Acid Sequence
Anemia, Hemolytic / genetics,  metabolism,  pathology
Animals
COS Cells
Cercopithecus aethiops
Chromosomes, Human, Pair 22 / genetics*
Chromosomes, Human, X / genetics*
Cloning, Molecular / methods
DNA, Complementary / genetics
Exons / genetics
Female
Gene Expression Regulation / physiology
Humans
Kell Blood-Group System / biosynthesis,  genetics*
Male
Membrane Transport Proteins / biosynthesis,  genetics*
Molecular Sequence Data
Neuromuscular Diseases / genetics,  metabolism,  pathology
Organ Specificity / physiology
Phylogeny
Placenta / cytology,  metabolism
Sequence Homology, Amino Acid
Testis / cytology,  metabolism
Grant Support
ID/Acronym/Agency:
HL54459/HL/NHLBI NIH HHS; R01 HL075716/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Complementary; 0/Kell Blood-Group System; 0/Membrane Transport Proteins; 0/XKR3 protein, human; 0/XKRX protein, human

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