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CD1E CD1e molecule [ Homo sapiens (human) ]

Gene ID: 913, updated on 10-Oct-2024

Summary

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
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Try the new Transcript table

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

NEW Try the new Transcript table

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_001042583.3NP_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: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_001042584.3NP_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:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:209269
    Ig; Immunoglobulin domain
  3. NM_001042585.3NP_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:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:209248
    Ig; Immunoglobulin domain
  4. NM_001042586.3NP_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:20112
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
  5. NM_001042587.3NP_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:2080
    Ig; Immunoglobulin domain
  6. NM_001185107.2NP_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: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_001185108.2NP_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:30142
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:137158
    Ig; Immunoglobulin domain
  8. NM_001185110.2NP_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:2059
    Ig; Immunoglobulin domain
  9. NM_001185112.2NP_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:20112
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
  10. NM_001185113.2NP_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:2059
    Ig; Immunoglobulin domain
  11. NM_001185114.2NP_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: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_001185115.2NP_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: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_030893.4NP_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: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: 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_011510133.4XP_011508435.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X1

    UniProtKB/TrEMBL
    A2RRL5
    Conserved Domains (2) summary
    cl08246
    Location:30204
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cl11960
    Location:209248
    Ig; Immunoglobulin domain
  2. XM_047434051.1XP_047290007.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X3

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

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

  5. XM_047434055.1XP_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_054339566.1XP_054195541.1  T-cell surface glycoprotein CD1e, membrane-associated isoform X1

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

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

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

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