LOCUS       NM_030893               1919 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.
ACCESSION   NM_030893
VERSION     NM_030893.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1919)
  AUTHORS   Aureli,A., Aboulaghras,S., Oumhani,K., Del Beato,T., Sebastiani,P.,
            Colanardi,A., El Aouad,R., Ben El Barhdadi,I. and Piancatelli,D.
  TITLE     CD1 gene polymorphism and susceptibility to celiac disease:
            Association of CD1E*02/02 in Moroccans
  JOURNAL   Hum Immunol 81 (7), 361-365 (2020)
   PUBMED   32467040
  REMARK    GeneRIF: CD1 gene polymorphism and susceptibility to celiac
            disease: Association of CD1E*02/02 in Moroccans.
REFERENCE   2  (bases 1 to 1919)
  AUTHORS   Rahman,M.I., Jahan,I., Khalid,M.M., Jahan,I., Ahammad,R.U.,
            Nahar,S. and Islam,Z.
  TITLE     CD1A and CD1E gene polymorphisms are not associated with
            susceptibility to Guillain-Barre syndrome in the Bangladeshi
            population
  JOURNAL   J Neuroimmunol 314, 8-12 (2018)
   PUBMED   29301656
  REMARK    GeneRIF: Single nucleotide polymorphisms in exon 2 of CD1A
            (*01/*02) and CD1E (*01/*02) cannot be recognized as a
            susceptibility or disease-causative factor for Guillain-Barre
            syndrome in the Bangladeshi population
REFERENCE   3  (bases 1 to 1919)
  AUTHORS   Maitre,B., Angenieux,C., Wurtz,V., Layre,E., Gilleron,M.,
            Collmann,A., Mariotti,S., Mori,L., Fricker,D., Cazenave,J.P., van
            Dorsselaer,A., Gachet,C., de Libero,G., Puzo,G., Hanau,D. and de la
            Salle,H.
  TITLE     The assembly of CD1e is controlled by an N-terminal propeptide
            which is processed in endosomal compartments
  JOURNAL   Biochem J 419 (3), 661-668 (2009)
   PUBMED   19196239
  REMARK    GeneRIF: CD1e propeptide is conserved during evolution, suggesting
            that it may also optimize the generation of CD1e molecules in other
            species.
REFERENCE   4  (bases 1 to 1919)
  AUTHORS   Brigl,M. and Brenner,M.B.
  TITLE     CD1: antigen presentation and T cell function
  JOURNAL   Annu Rev Immunol 22, 817-890 (2004)
   PUBMED   15032598
  REMARK    Review article
REFERENCE   5  (bases 1 to 1919)
  AUTHORS   Angenieux,C., Salamero,J., Fricker,D., Cazenave,J.P., Goud,B.,
            Hanau,D. and de La Salle,H.
  TITLE     Characterization of CD1e, a third type of CD1 molecule expressed in
            dendritic cells
  JOURNAL   J Biol Chem 275 (48), 37757-37764 (2000)
   PUBMED   10948205
REFERENCE   6  (bases 1 to 1919)
  AUTHORS   Mirones,I., Oteo,M., Parra-Cuadrado,J.F. and Martinez-Naves,E.
  TITLE     Identification of two novel human CD1E alleles
  JOURNAL   Tissue Antigens 56 (2), 159-161 (2000)
   PUBMED   11019917
REFERENCE   7  (bases 1 to 1919)
  AUTHORS   Yu,C.Y. and Milstein,C.
  TITLE     A physical map linking the five CD1 human thymocyte differentiation
            antigen genes
  JOURNAL   EMBO J 8 (12), 3727-3732 (1989)
   PUBMED   2583117
REFERENCE   8  (bases 1 to 1919)
  AUTHORS   Calabi,F., Jarvis,J.M., Martin,L. and Milstein,C.
  TITLE     Two classes of CD1 genes
  JOURNAL   Eur J Immunol 19 (2), 285-292 (1989)
   PUBMED   2467814
REFERENCE   9  (bases 1 to 1919)
  AUTHORS   Albertson,D.G., Fishpool,R., Sherrington,P., Nacheva,E. and
            Milstein,C.
  TITLE     Sensitive and high resolution in situ hybridization to human
            chromosomes using biotin labelled probes: assignment of the human
            thymocyte CD1 antigen genes to chromosome 1
  JOURNAL   EMBO J 7 (9), 2801-2805 (1988)
   PUBMED   3053166
REFERENCE   10 (bases 1 to 1919)
  AUTHORS   Martin,L.H., Calabi,F. and Milstein,C.
  TITLE     Isolation of CD1 genes: a family of major histocompatibility
            complex-related differentiation antigens
  JOURNAL   Proc Natl Acad Sci U S A 83 (23), 9154-9158 (1986)
   PUBMED   3097645
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC406237.1, BC131693.1,
            AJ289111.1 and AL121986.12.
            
            On Nov 23, 2018 this sequence version replaced NM_030893.3.
            
            Summary: This gene encodes a member of the CD1 family of
            transmembrane glycoproteins, which are structurally related to the
            major histocompatibility complex (MHC) proteins and form
            heterodimers with beta-2-microglobulin. The CD1 proteins mediate
            the presentation of primarily lipid and glycolipid antigens of self
            or microbial origin to T cells. The human genome contains five CD1
            family genes organized in a cluster on chromosome 1. The CD1 family
            members are thought to differ in their cellular localization and
            specificity for particular lipid ligands. The protein encoded by
            this gene localizes within Golgi compartments, endosomes, and
            lysosomes, and is cleaved into a stable soluble form. The soluble
            form is required for the intracellular processing of some
            glycolipids into a form that can be presented by other CD1 family
            members. Many alternatively spliced transcript variants encoding
            different isoforms have been described. Additional transcript
            variants have been found; however, their biological validity has
            not been determined. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform a, also known
            as 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303108.1, AJ289111.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368167.8/ ENSP00000357149.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                DC406237.1         199-291
            94-450              BC131693.1         3-359
            451-1262            AJ289111.1         356-1167
            1263-1919           AL121986.12        103312-103968
FEATURES             Location/Qualifiers
     source          1..1919
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     gene            1..1919
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /note="CD1e molecule"
                     /db_xref="GeneID:913"
                     /db_xref="HGNC:HGNC:1638"
                     /db_xref="MIM:188411"
     exon            1..153
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1262
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; CD1E antigen, e polypeptide; leukocyte
                     differentiation antigen; differentiation antigen
                     CD1-alpha-3; thymocyte antigen CD1E; T-cell surface
                     glycoprotein CD1e, membrane-associated; R2G1; hCD1e"
                     /codon_start=1
                     /product="T-cell surface glycoprotein CD1e,
                     membrane-associated isoform a precursor"
                     /protein_id="NP_112155.2"
                     /db_xref="CCDS:CCDS41417.1"
                     /db_xref="GeneID:913"
                     /db_xref="HGNC:HGNC:1638"
                     /db_xref="MIM:188411"
                     /translation="MLLLFLLFEGLCCPGENTAAPQALQSYHLAAEEQLSFRMLQTSS
                     FANHSWAHSEGSGWLGDLQTHGWDTVLGTIRFLKPWSHGNFSKQELKNLQSLFQLYFH
                     SFIQIVQASAGQFQLEYPFEIQILAGCRMNAPQIFLNMAYQGSDFLSFQGISWEPSPG
                     AGIRAQNICKVLNRYLDIKEILQSLLGHTCPRFLAGLMEAGESELKRKVKPEAWLSCG
                     PSPGPGRLQLVCHVSGFYPKPVWVMWMRGEQEQRGTQRGDVLPNADETWYLRATLDVA
                     AGEAAGLSCRVKHSSLGGHDLIIHWGGYSIFLILICLTVIVTLVILVVVDSRLKKQSS
                     NKNILSPHTPSPVFLMGANTQDTKNSRHQFCLAQVSWIKNRVLKKWKTRLNQLW"
     exon            154..450
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /inference="alignment:Splign:2.1.0"
     exon            451..720
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /inference="alignment:Splign:2.1.0"
     exon            721..999
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1093
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1919
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1882..1887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /note="hexamer: AATAAA"
     regulatory      1898..1903
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /note="hexamer: AATAAA"
     polyA_site      1903
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /note="major polyA site"
     polyA_site      1919
                     /gene="CD1E"
                     /gene_synonym="CD1A; R2"
                     /note="major polyA site"
ORIGIN      
        1 agacgagagt gcaagagggt gtggagaggg gtactgatat ctgaattatt agggcaggtg
       61 tcctgccaag gaatccctcc tttaacagag cttcaatgct gctcctgttc ctcctcttcg
      121 agggtctctg ctgtcctggg gaaaatacag cagctcccca ggctctacaa tcctatcatc
      181 tagcagcaga ggagcagctg tccttccgca tgctccaaac ttcctccttt gccaaccaca
      241 gctgggcaca cagtgagggc tcaggatggc tgggtgacct gcagactcat ggctgggaca
      301 ctgtcttggg caccatccgc tttctgaagc cctggtccca tggaaacttc agcaagcagg
      361 agctgaaaaa cttacagtca ctgttccagt tatacttcca tagttttatc cagatagtgc
      421 aagcttctgc tggtcaattt cagcttgaat accccttcga gatccagata ttagctggct
      481 gtagaatgaa tgccccacaa atcttcttaa atatggcata tcaagggtca gatttcctga
      541 gtttccaagg aatttcctgg gagccatctc caggagcagg gatccgggcc cagaacatct
      601 gtaaagtgct caatcgctac ctagatatta aggaaatact gcaaagcctt cttggtcaca
      661 cctgccctcg atttctagcg gggctcatgg aagcagggga gtcagaactg aaacggaaag
      721 tgaagccaga ggcctggctg tcctgtggcc ccagtcctgg ccctggccgt ctgcagcttg
      781 tgtgccatgt ctcaggattc tacccaaagc ccgtgtgggt gatgtggatg cggggtgagc
      841 aggagcagcg gggcactcag cgaggggacg tcctgcctaa tgctgacgag acatggtatc
      901 tccgagcaac cctggatgtg gcggctgggg aggcagctgg cctgtcctgt cgggtgaaac
      961 acagcagtct agggggccat gatctaatca tccattgggg tggatattcc atctttctca
     1021 tcctgatctg tttgactgtg atagttaccc tggtcatatt ggttgtagtt gactcacggt
     1081 taaaaaaaca gagttcaaat aagaacattc tttctcccca cacacccagc cctgtctttc
     1141 tcatgggagc caacactcag gacaccaaga attcaagaca tcagttctgc ttggcacaag
     1201 tatcgtggat caaaaacaga gtattgaaga agtggaagac acgcctaaac caactctggt
     1261 gacatttgct ttaccttata cataaaatcc ttgtctgcat cttcttaaac accgtccatg
     1321 tcccataagg gaagcatgct tttatttaaa cagtttatac tagcaaagat actgacccct
     1381 ttaggaatac tttttcccca tcttccagag attttttttt tcctgctttg gctacatatc
     1441 catcattgtt tatttttgaa actataatcc agatacttct ttttcatgga ttcccgagat
     1501 cacccaattg atagctcttc tgtactcccc aaattgaact gatcttcaca agcacattca
     1561 tctcttccta ctctgaacag tagttattta ggtttttgct cttttttttt ttttaatctc
     1621 agttgcttga aagtaggatt taggtatttg tgtctgtatt catgaccaaa aatcttatct
     1681 gaattcaggg ccagcttcat aagcatgtga cctgtgcaga cacatggaat cgtatgctct
     1741 gcaagaaccc atgctagatt taatgctctg ctgttgtcat cttggaatcc ttagtcattt
     1801 tcaaacaaga gatattgtat tttcattttt cactgacccc acaaattata tagctgattc
     1861 agtgtgaatg taatatttct caataaatgc tgactgaaat aaatttgttg ttagatcaa
//
