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CD1E CD1e molecule [ Homo sapiens (human) ]

Gene ID: 913, updated on 8-Jul-2018
Official Symbol
CD1Eprovided by HGNC
Official Full Name
CD1e moleculeprovided by HGNC
Primary source
HGNC:HGNC:1638
See related
Ensembl:ENSG00000158488 MIM:188411; Vega:OTTHUMG00000017515
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
See CD1E in Genome Data Viewer
Location:
1q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (158353123..158357554)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (158323486..158327343)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 5 Neighboring gene CD1b molecule Neighboring gene CD1c molecule Neighboring gene olfactory receptor family 10 subfamily T member 2 Neighboring gene olfactory receptor family 10 subfamily K member 2

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
    Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
    Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ17609

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endogenous lipid antigen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exogenous lipid antigen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipopeptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation, endogenous lipid antigen via MHC class Ib IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antigen processing and presentation, exogenous lipid antigen via MHC class Ib IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of T cell mediated cytotoxicity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
 
lysosomal lumen IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001042583.2NP_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/Swiss-Prot
    P15812
    UniProtKB/TrEMBL
    A2RRL5
    Related
    ENSP00000357142.3, OTTHUMP00000018914, ENST00000368160.7, OTTHUMT00000046357
    Conserved Domains (2) summary
    cd07698
    Location:209301
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    cl08246
    Location:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
  2. NM_001042584.2NP_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/Swiss-Prot
    P15812
    UniProtKB/TrEMBL
    A2RRL5
    Related
    ENSP00000357143.3, OTTHUMP00000018915, ENST00000368161.7, OTTHUMT00000046358
    Conserved Domains (2) summary
    cl08246
    Location:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:209269
    Ig; Immunoglobulin domain
  3. NM_001042585.2NP_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/Swiss-Prot
    P15812
    UniProtKB/TrEMBL
    A2RRL5
    Related
    ENSP00000357145.3, OTTHUMP00000018916, ENST00000368163.7, OTTHUMT00000046359
    Conserved Domains (2) summary
    cl08246
    Location:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:209248
    Ig; Immunoglobulin domain
  4. NM_001042586.2NP_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, OTTHUMP00000018913, ENST00000368166.7, OTTHUMT00000046356
    Conserved Domains (1) summary
    cd07698
    Location:20112
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
  5. NM_001042587.2NP_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, OTTHUMP00000018920, ENST00000368164.7, OTTHUMT00000046363
    Conserved Domains (1) summary
    cl11960
    Location:2080
    Ig; Immunoglobulin domain
  6. NM_001185107.1NP_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, OTTHUMP00000018917, ENST00000368165.7, OTTHUMT00000046360
    Conserved Domains (2) summary
    cd07698
    Location:120211
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    cl08246
    Location:30142
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
  7. NM_001185108.1NP_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, OTTHUMP00000018919, ENST00000368155.7, OTTHUMT00000046362
    Conserved Domains (2) summary
    cl08246
    Location:30142
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:137158
    Ig; Immunoglobulin domain
  8. NM_001185110.1NP_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, OTTHUMP00000018911, ENST00000368157.5, OTTHUMT00000046354
    Conserved Domains (1) summary
    cl11960
    Location:2059
    Ig; Immunoglobulin domain
  9. NM_001185112.1NP_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, OTTHUMP00000018912, ENST00000452291.6, OTTHUMT00000046355
    Conserved Domains (1) summary
    cd07698
    Location:20112
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
  10. NM_001185113.1NP_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, OTTHUMP00000018921, ENST00000368154.5, OTTHUMT00000046364
    Conserved Domains (1) summary
    cl11960
    Location:2059
    Ig; Immunoglobulin domain
  11. NM_001185114.1NP_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, DC406237
    Consensus CDS
    CCDS53387.1
    UniProtKB/Swiss-Prot
    P15812
    Related
    ENSP00000402906.2, ENST00000444681.6
    Conserved Domains (2) summary
    cd07698
    Location:110202
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    cl08246
    Location:21105
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
  12. NM_001185115.1NP_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, OTTHUMP00000018918, ENST00000368156.5, OTTHUMT00000046361
    Conserved Domains (2) summary
    cd07698
    Location:120211
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    cl08246
    Location:30142
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
  13. NM_030893.3NP_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
    P15812
    UniProtKB/TrEMBL
    A2RRL5
    Related
    ENSP00000357149.3, OTTHUMP00000018910, ENST00000368167.7, OTTHUMT00000046353
    Conserved Domains (2) summary
    cd07698
    Location:209301
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    cl08246
    Location:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    158353123..158357554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510134.3XP_011508436.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X2

    See identical proteins and their annotated locations for XP_011508436.1

    UniProtKB/Swiss-Prot
    P15812
    Conserved Domains (2) summary
    cl08246
    Location:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:209269
    Ig; Immunoglobulin domain
  2. XM_011510133.3XP_011508435.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X1

    Conserved Domains (2) summary
    cl08246
    Location:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:209248
    Ig; Immunoglobulin domain
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