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    CD1E CD1e molecule [ Homo sapiens (human) ]

    Gene ID: 913, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CD1Eprovided by HGNC
    Official Full Name
    CD1e moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1638
    See related
    Ensembl:ENSG00000158488 MIM:188411; AllianceGenome:HGNC:1638
    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
    R2; CD1A
    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]
    Expression
    Broad expression in skin (RPKM 3.1), esophagus (RPKM 2.3) and 18 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CD1E in Genome Data Viewer
    Location:
    1q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (158353894..158357553)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (157490987..157494646)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (158323684..158327343)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1899 Neighboring gene CD1b molecule Neighboring gene CD1c molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1451 Neighboring gene olfactory receptor family 10 subfamily T member 2 Neighboring gene olfactory receptor family 10 subfamily K member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans.
      Title: CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans.
    2. 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
      Title: CD1A and CD1E gene polymorphisms are not associated with susceptibility to Guillain-Barré syndrome in the Bangladeshi population.
    3. There was no association between polymorphisms of CD1E genes and the susceptibilities to Guillain-Barre syndrome.
      Title: Polymorphisms in exon 2 of CD1 genes are associated with susceptibility to Guillain-Barré syndrome.
    4. for isoforms CD1b through CD1e, our simulations show the near-complete collapse of the hydrophobic cavities in the absence of the antigen. This event results from the spontaneous closure of the binding domain entrance, flanked by two alpha-helices.
      Title: Dynamics of the antigen-binding grooves in CD1 proteins: reversible hydrophobic collapse in the lipid-free state.
    5. The interaction of LAPTM5 with CD1e and their colocalization in antigen processing compartments both suggest that LAPTM5 might influence the role of CD1e in the presentation of lipid antigens.
      Title: Lysosomal-associated transmembrane protein 5 (LAPTM5) is a molecular partner of CD1e.
    6. Deciphering the role of CD1e protein in mycobacterial phosphatidyl-myo-inositol mannosides (PIM) processing for presentation by CD1b to T lymphocytes
      Title: Deciphering the role of CD1e protein in mycobacterial phosphatidyl-myo-inositol mannosides (PIM) processing for presentation by CD1b to T lymphocytes.
    7. in the late endosomes/lysosomes of dendritic cells, the acid pH promotes the binding of lipid antigens to CD1e through increased hydrophobic and ionic interactions
      Title: Increased flexibility and liposome-binding capacity of CD1e at endosomal pH.
    8. allelic variation in CD1E does not play a major role in determining multifocal motor neuropathy susceptibility.
      Title: Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.
    9. In Guillain-Barre syndrome, an initially positive association study with polymorphism of CD1A and CD1E genes was not confirmed
      Title: Polymorphism of CD1 and SH2D2A genes in inflammatory neuropathies.
    10. CD1e may positively or negatively affect lipid presentation by CD1b, CD1c, and CD1d.
      Title: Fine tuning by human CD1e of lipid-specific immune responses.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17609

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endogenous lipid antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables exogenous lipid antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipopeptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in antigen processing and presentation, endogenous lipid antigen via MHC class Ib IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in antigen processing and presentation, exogenous lipid antigen via MHC class Ib IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of T cell mediated cytotoxicity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    T-cell surface glycoprotein CD1e, membrane-associated
    Names
    CD1E antigen, e polypeptide
    R2G1
    differentiation antigen CD1-alpha-3
    hCD1e
    leukocyte differentiation antigen
    thymocyte antigen CD1E

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001042583.3 → NP_001036048.1  T-cell surface glycoprotein CD1e, membrane-associated isoform b precursor

      See identical proteins and their annotated locations for NP_001036048.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b, also known as 2).
      Source sequence(s)
      AJ289112, AL121986, BC131693, DC406237
      Consensus CDS
      CCDS41418.1
      UniProtKB/TrEMBL
      A2RRL5
      Related
      ENSP00000357142.3, ENST00000368160.7
      Conserved Domains (2) summary
      cd07698
      Location:209 → 301
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:30 → 204
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    2. NM_001042584.3 → NP_001036049.1  T-cell surface glycoprotein CD1e, membrane-associated isoform c precursor

      See identical proteins and their annotated locations for NP_001036049.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes an isoform (c, also known as 3), which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AJ289113, AL121986, BC131693, DC406237
      Consensus CDS
      CCDS41421.1
      UniProtKB/TrEMBL
      A2RRL5
      Related
      ENSP00000357143.3, ENST00000368161.7
      Conserved Domains (2) summary
      cl08246
      Location:30 → 204
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:209 → 269
      Ig; Immunoglobulin domain

    3. NM_001042585.3 → NP_001036050.1  T-cell surface glycoprotein CD1e, membrane-associated isoform d precursor

      See identical proteins and their annotated locations for NP_001036050.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform d, also known as 4), compared to isoform a.
      Source sequence(s)
      AJ289114, AL121986, BC131693, DC406237
      Consensus CDS
      CCDS41419.1
      UniProtKB/TrEMBL
      A2RRL5
      Related
      ENSP00000357145.3, ENST00000368163.7
      Conserved Domains (2) summary
      cl08246
      Location:30 → 204
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:209 → 248
      Ig; Immunoglobulin domain

    4. NM_001042586.3 → NP_001036051.1  T-cell surface glycoprotein CD1e, membrane-associated isoform e precursor

      See identical proteins and their annotated locations for NP_001036051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) is missing two coding exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform e, also known as 9) compared to isoform a.
      Source sequence(s)
      AJ289119, AL121986, DC406237
      Consensus CDS
      CCDS41420.1
      UniProtKB/Swiss-Prot
      P15812
      Related
      ENSP00000357148.3, ENST00000368166.7
      Conserved Domains (1) summary
      cd07698
      Location:20 → 112
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

    5. NM_001042587.3 → NP_001036052.1  T-cell surface glycoprotein CD1e, membrane-associated isoform f precursor

      See identical proteins and their annotated locations for NP_001036052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) is missing two coding exons and uses an alternate splice site in the 3' coding region, which results in a translational frameshift, compared to variant 1. It encodes a protein (isoform f, also known as 10) that is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AJ289120, AL121986, DC406237
      Consensus CDS
      CCDS41422.1
      UniProtKB/Swiss-Prot
      P15812
      Related
      ENSP00000357146.3, ENST00000368164.7
      Conserved Domains (1) summary
      cl11960
      Location:20 → 80
      Ig; Immunoglobulin domain

    6. NM_001185107.2 → NP_001172036.1  T-cell surface glycoprotein CD1e, membrane-associated isoform g precursor

      See identical proteins and their annotated locations for NP_001172036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) is missing a coding exon, compared to variant 1. It encodes a protein (isoform g, also known as 5) that is shorter when it is compared to isoform a.
      Source sequence(s)
      AJ289115, AL121986, BC131693, DC406237
      Consensus CDS
      CCDS53385.1
      UniProtKB/Swiss-Prot
      P15812
      UniProtKB/TrEMBL
      A2RRL5
      Related
      ENSP00000357147.3, ENST00000368165.7
      Conserved Domains (2) summary
      cd07698
      Location:120 → 211
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:30 → 142
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    7. NM_001185108.2 → NP_001172037.1  T-cell surface glycoprotein CD1e, membrane-associated isoform i precursor

      See identical proteins and their annotated locations for NP_001172037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) is missing a coding exon and uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform i, also known as 7), compared to isoform a.
      Source sequence(s)
      AJ289117, AL121986, BC131693, DC406237
      Consensus CDS
      CCDS53384.1
      UniProtKB/Swiss-Prot
      P15812
      UniProtKB/TrEMBL
      A2RRL5
      Related
      ENSP00000357137.3, ENST00000368155.7
      Conserved Domains (2) summary
      cl08246
      Location:30 → 142
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:137 → 158
      Ig; Immunoglobulin domain

    8. NM_001185110.2 → NP_001172039.1  T-cell surface glycoprotein CD1e, membrane-associated isoform l precursor

      See identical proteins and their annotated locations for NP_001172039.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) is missing two coding exons and uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform l, also known as 12), compared to isoform a.
      Source sequence(s)
      AJ289122, AL121986, DC406237
      Consensus CDS
      CCDS53389.1
      UniProtKB/Swiss-Prot
      P15812
      Related
      ENSP00000357139.1, ENST00000368157.5
      Conserved Domains (1) summary
      cl11960
      Location:20 → 59
      Ig; Immunoglobulin domain

    9. NM_001185112.2 → NP_001172041.1  T-cell surface glycoprotein CD1e, membrane-associated isoform j precursor

      See identical proteins and their annotated locations for NP_001172041.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) is missing two coding exons, compared to variant 1, resulting in a shorter protein (isoform j, also known as 10), compared to isoform a.
      Source sequence(s)
      AJ289118, AL121986, DC406237
      Consensus CDS
      CCDS53390.1
      UniProtKB/Swiss-Prot
      P15812
      Related
      ENSP00000416228.2, ENST00000452291.6
      Conserved Domains (1) summary
      cd07698
      Location:20 → 112
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

    10. NM_001185113.2 → NP_001172042.1  T-cell surface glycoprotein CD1e, membrane-associated isoform k precursor

      See identical proteins and their annotated locations for NP_001172042.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) is missing two coding exons and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform k, also known as 11), compared to isoform a.
      Source sequence(s)
      AJ289121, AL121986, DC406237
      Consensus CDS
      CCDS53388.1
      UniProtKB/Swiss-Prot
      P15812
      Related
      ENSP00000357136.1, ENST00000368154.5
      Conserved Domains (1) summary
      cl11960
      Location:20 → 59
      Ig; Immunoglobulin domain

    11. NM_001185114.2 → NP_001172043.1  T-cell surface glycoprotein CD1e, membrane-associated isoform m precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) is missing one coding exon and uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform m), compared to isoform a.
      Source sequence(s)
      AK311643, AL121986
      Consensus CDS
      CCDS53387.1
      UniProtKB/Swiss-Prot
      P15812
      Related
      ENSP00000402906.2, ENST00000444681.6
      Conserved Domains (2) summary
      cd07698
      Location:110 → 202
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:21 → 105
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    12. NM_001185115.2 → NP_001172044.1  T-cell surface glycoprotein CD1e, membrane-associated isoform h precursor

      See identical proteins and their annotated locations for NP_001172044.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) is missing a coding exon and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform h, also known as 6), compared to isoform a.
      Source sequence(s)
      AJ289116, AL121986, BC131693, DC406237
      Consensus CDS
      CCDS53386.1
      UniProtKB/Swiss-Prot
      P15812
      UniProtKB/TrEMBL
      A2RRL5
      Related
      ENSP00000357138.1, ENST00000368156.5
      Conserved Domains (2) summary
      cd07698
      Location:120 → 211
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:30 → 142
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    13. NM_030893.4 → NP_112155.2  T-cell surface glycoprotein CD1e, membrane-associated isoform a precursor

      See identical proteins and their annotated locations for NP_112155.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a, also known as 1).
      Source sequence(s)
      AJ289111, AL121986, BC131693, DC406237
      Consensus CDS
      CCDS41417.1
      UniProtKB/Swiss-Prot
      B4DZV3, E7EP01, P15812, Q5TDJ9, Q5TDK3, Q5TDK4, Q5TDK5, Q5TDK6, Q5TDK8, Q5TDL1, Q712E4, Q712E5, Q712E6, Q712E7, Q712E8, Q712E9, Q712F0, Q712F1, Q712F2, Q712F3, Q712F4, Q712F5, Q96TD0, Q96TD1, Q9UMM1, Q9Y5M3
      UniProtKB/TrEMBL
      A2RRL5
      Related
      ENSP00000357149.3, ENST00000368167.8
      Conserved Domains (2) summary
      cd07698
      Location:209 → 301
      IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
      cl08246
      Location:30 → 204
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      158353894..158357553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510133.4 → XP_011508435.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X1

      UniProtKB/TrEMBL
      A2RRL5
      Conserved Domains (2) summary
      cl08246
      Location:30 → 204
      MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
      cl11960
      Location:209 → 248
      Ig; Immunoglobulin domain

    2. XM_047434051.1 → XP_047290007.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X3

    3. XM_047434050.1 → XP_047290006.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X2

    4. XM_047434054.1 → XP_047290010.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X4

    5. XM_047434055.1 → XP_047290011.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      157490987..157494646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339566.1 → XP_054195541.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X1

    2. XM_054339568.1 → XP_054195543.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X3

    3. XM_054339567.1 → XP_054195542.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X2

    4. XM_054339569.1 → XP_054195544.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X4

    5. XM_054339570.1 → XP_054195545.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15812.2 GenPept UniProtKB/Swiss-Prot:P15812

    Gene LinkOut

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