CD1D (CD1d molecule) - Rat Genome Database

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Gene: CD1D (CD1d molecule) Homo sapiens
Analyze
Symbol: CD1D
Name: CD1d molecule
RGD ID: 1353762
HGNC Page HGNC:1637
Description: Enables cell adhesion molecule binding activity and exogenous lipid antigen binding activity. Involved in antigen processing and presentation, endogenous lipid antigen via MHC class Ib and positive regulation of T cell proliferation. Located in cell surface; endoplasmic reticulum; and lysosome. Implicated in pulmonary tuberculosis. Biomarker of dengue hemorrhagic fever; stomach cancer; and urinary schistosomiasis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen-presenting glycoprotein CD1d; CD1A; CD1D antigen, d polypeptide; differentiation antigen CD1-alpha-3; HMC class I antigen-like glycoprotein CD1D; MGC34622; R3; R3G1; T-cell surface glycoprotein CD1d; thymocyte antigen CD1D
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381158,178,030 - 158,186,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1158,178,030 - 158,186,427 (+)EnsemblGRCh38hg38GRCh38
GRCh371158,147,820 - 158,156,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361156,416,361 - 156,422,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341154,962,809 - 154,967,758NCBI
Celera1131,220,809 - 131,227,289 (+)NCBICelera
Cytogenetic Map1q23.1NCBI
HuRef1129,508,011 - 129,514,491 (+)NCBIHuRef
CHM1_11159,546,145 - 159,552,625 (+)NCBICHM1_1
T2T-CHM13v2.01157,297,517 - 157,323,522 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-nitrofluorene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
adapalene  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
diallyl disulfide  (EXP)
Diallyl sulfide  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
endosulfan  (ISO)
fucoxanthin  (ISO)
gentamycin  (ISO)
glucose  (ISO)
inulin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
lipopolysaccharide  (EXP)
menadione  (ISO)
methotrexate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nickel atom  (EXP)
nitrates  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
Ro 41-5253  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Tartrolon D  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Regulatory B cells prevent and reverse allergic airway inflammation via FoxP3-positive T regulatory cells in a murine model. Amu S, etal., J Allergy Clin Immunol. 2010 May;125(5):1114-1124.e8. Epub 2010 Mar 20.
2. Natural killer T cells mediate alveolar bone resorption and a systemic inflammatory response in response to oral infection of mice with Porphyromonas gingivalis. Aoki-Nonaka Y, etal., J Periodontal Res. 2014 Feb;49(1):69-76. doi: 10.1111/jre.12080. Epub 2013 Apr 16.
3. Pathogenic mouse hepatitis virus or poly(I:C) induce IL-33 in hepatocytes in murine models of hepatitis. Arshad MI, etal., PLoS One. 2013 Sep 13;8(9):e74278. doi: 10.1371/journal.pone.0074278. eCollection 2013.
4. CD1d-restricted peripheral T cell lymphoma in mice and humans. Bachy E, etal., J Exp Med. 2016 May 2;213(5):841-57. doi: 10.1084/jem.20150794. Epub 2016 Apr 11.
5. Activation of a nonclassical NKT cell subset in a transgenic mouse model of hepatitis B virus infection. Baron JL, etal., Immunity. 2002 Apr;16(4):583-94. doi: 10.1016/s1074-7613(02)00305-9.
6. A role for natural killer T cells and CD1d molecules in counteracting suppression of hematopoiesis in mice induced by infection with murine cytomegalovirus. Broxmeyer HE, etal., Exp Hematol. 2007 Apr;35(4 Suppl 1):87-93. doi: 10.1016/j.exphem.2007.01.015.
7. Both CD1d antigen presentation and interleukin-12 are required to activate natural killer T cells during Trypanosoma cruzi infection. Duthie MS, etal., Infect Immun. 2005 Mar;73(3):1890-4. doi: 10.1128/IAI.73.3.1890-1894.2005.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Importance of NKT cells in resistance to herpes simplex virus, fate of virus-infected neurons, and level of latency in mice. Grubor-Bauk B, etal., J Virol. 2008 Nov;82(22):11073-83. doi: 10.1128/JVI.00205-08. Epub 2008 Jul 9.
10. CD1d-restricted NKT cells modulate placental and uterine leukocyte populations during chlamydial infection in mice. Habbeddine M, etal., Microbes Infect. 2013 Nov;15(13):928-38. doi: 10.1016/j.micinf.2013.08.006. Epub 2013 Aug 31.
11. Increased Expression of Two Alternative Spliced Variants of CD1d Molecule in Human Gastric Cancer. Hafezi N, etal., Iran J Immunol. 2015 Jun;12(2):129-40. doi: IJIv12i2A5.
12. CD1d-restricted NKT cells contribute to malarial splenomegaly and enhance parasite-specific antibody responses. Hansen DS, etal., Eur J Immunol. 2003 Sep;33(9):2588-98. doi: 10.1002/eji.200323666.
13. Role of CD1d in coxsackievirus B3-induced myocarditis. Huber S, etal., J Immunol. 2003 Mar 15;170(6):3147-53. doi: 10.4049/jimmunol.170.6.3147.
14. Decay-accelerating factor (CD55) promotes CD1d expression and Vgamma4+ T-cell activation in coxsackievirus B3-induced myocarditis. Huber S, etal., Viral Immunol. 2006 Summer;19(2):156-66. doi: 10.1089/vim.2006.19.156.
15. Tumor necrosis factor-alpha promotes myocarditis in female mice infected with coxsackievirus B3 through upregulation of CD1d on hematopoietic cells. Huber S, Viral Immunol. 2010 Feb;23(1):79-86. doi: 10.1089/vim.2009.0063.
16. gammadelta T lymphocytes kill T regulatory cells through CD1d. Huber SA Immunology. 2010 Oct;131(2):202-9. doi: 10.1111/j.1365-2567.2010.03292.x. Epub 2010 Aug 16.
17. CD1d mediates T-cell-dependent resistance to secondary infection with encephalomyocarditis virus (EMCV) in vitro and immune response to EMCV infection in vivo. Ilyinskii PO, etal., J Virol. 2006 Jul;80(14):7146-58. doi: 10.1128/JVI.02745-05.
18. Post-sepsis immunosuppression depends on NKT cell regulation of mTOR/IFN-γ in NK cells. Kim EY, etal., J Clin Invest. 2020 Jun 1;130(6):3238-3252. doi: 10.1172/JCI128075.
19. Hepatocyte CD1d protects against liver immunopathology in mice with schistosomiasis japonica. Lei Z, etal., Immunology. 2021 Mar;162(3):328-338. doi: 10.1111/imm.13288. Epub 2020 Dec 22.
20. The mucosal adjuvant effect of alpha-galactosylceramide for induction of protective immunity to sexually transmitted viral infection. Lindqvist M, etal., J Immunol. 2009 May 15;182(10):6435-43. doi: 10.4049/jimmunol.0900136.
21. Invariant NKT cell response to dengue virus infection in human. Matangkasombut P, etal., PLoS Negl Trop Dis. 2014 Jun 19;8(6):e2955. doi: 10.1371/journal.pntd.0002955. eCollection 2014 Jun.
22. Interferon-mediated innate immune responses against malaria parasite liver stages. Miller JL, etal., Cell Rep. 2014 Apr 24;7(2):436-447. doi: 10.1016/j.celrep.2014.03.018. Epub 2014 Apr 3.
23. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
24. Herpes Simplex Virus 1 Specifically Targets Human CD1d Antigen Presentation To Enhance Its Pathogenicity. Rao P, etal., J Virol. 2018 Oct 29;92(22). pii: JVI.01490-18. doi: 10.1128/JVI.01490-18. Print 2018 Nov 15.
25. The Variable Genomic NK Cell Receptor Locus Is a Key Determinant of CD4+ T Cell Responses During Viral Infection. Raynor J, etal., Front Immunol. 2020 Feb 20;11:197. doi: 10.3389/fimmu.2020.00197. eCollection 2020.
26. Contribution of NKT cells to the immune response and pathogenesis triggered by respiratory viruses. Rey-Jurado E, etal., Virulence. 2020 Dec;11(1):580-593. doi: 10.1080/21505594.2020.1770492.
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. Inhibition of CD1d activation suppresses septic mortality: a role for NK-T cells in septic immune dysfunction. Rhee RJ, etal., J Surg Res. 2003 Nov;115(1):74-81. doi: 10.1016/s0022-4804(03)00220-8.
30. Association between genetic variants in CD1A and CD1D genes and pulmonary tuberculosis in an Iranian population. Taheri M, etal., Biomed Rep. 2019 Apr;10(4):259-265. doi: 10.3892/br.2019.1201. Epub 2019 Mar 15.
31. Elevated Hepatic CD1d Levels Coincide with Invariant NKT Cell Defects in Chronic Hepatitis B Virus Infection. Tan X, etal., J Immunol. 2018 May 15;200(10):3530-3538. doi: 10.4049/jimmunol.1701801. Epub 2018 Apr 11.
32. Schistosomes induce regulatory features in human and mouse CD1d(hi) B cells: inhibition of allergic inflammation by IL-10 and regulatory T cells. van der Vlugt LE, etal., PLoS One. 2012;7(2):e30883. doi: 10.1371/journal.pone.0030883. Epub 2012 Feb 8.
33. Direct CD1d-mediated stimulation of APC IL-12 production and protective immune response to virus infection in vivo. Yue SC, etal., J Immunol. 2010 Jan 1;184(1):268-76. doi: 10.4049/jimmunol.0800924. Epub 2009 Nov 30.
34. Activation of natural killer T cells in NZB/W mice induces Th1-type immune responses exacerbating lupus. Zeng D, etal., J Clin Invest. 2003 Oct;112(8):1211-22. doi: 10.1172/JCI17165.
Additional References at PubMed
PMID:1717564   PMID:2463622   PMID:2467814   PMID:2583117   PMID:3097645   PMID:7517575   PMID:8125298   PMID:8729450   PMID:9374463   PMID:9601940   PMID:10221650   PMID:10473580  
PMID:10488738   PMID:10523605   PMID:11006091   PMID:11257307   PMID:11315191   PMID:11580851   PMID:11754812   PMID:11777966   PMID:11927549   PMID:11968185   PMID:12133957   PMID:12239218  
PMID:12368486   PMID:12415264   PMID:12454749   PMID:12477932   PMID:12618910   PMID:12730881   PMID:12952923   PMID:14500461   PMID:14530337   PMID:14551186   PMID:14716312   PMID:15032598  
PMID:15100293   PMID:15128771   PMID:15187105   PMID:15243159   PMID:15265953   PMID:15345586   PMID:15489334   PMID:15654963   PMID:15665086   PMID:15790518   PMID:15916790   PMID:16007090  
PMID:16091469   PMID:16148122   PMID:16178273   PMID:16385629   PMID:16454711   PMID:16456021   PMID:16517731   PMID:16675349   PMID:16710414   PMID:16818729   PMID:16820217   PMID:17015708  
PMID:17071498   PMID:17071611   PMID:17363727   PMID:17372201   PMID:17475845   PMID:17476670   PMID:17581592   PMID:17726154   PMID:18068183   PMID:18253929   PMID:18337560   PMID:18378792  
PMID:18385757   PMID:18433720   PMID:18458073   PMID:18535199   PMID:18684921   PMID:18713998   PMID:19056691   PMID:19124746   PMID:19415116   PMID:19446558   PMID:19454494   PMID:19592659  
PMID:19637196   PMID:19651460   PMID:19724888   PMID:19734232   PMID:19757161   PMID:19830742   PMID:20080535   PMID:20237496   PMID:20363964   PMID:20368272   PMID:20520738   PMID:20530791  
PMID:20810727   PMID:20861015   PMID:21095162   PMID:21185200   PMID:21198755   PMID:21258883   PMID:21451111   PMID:21454514   PMID:21557213   PMID:21632718   PMID:21646050   PMID:21653669  
PMID:21695190   PMID:21802320   PMID:21846915   PMID:21853044   PMID:21873635   PMID:21900247   PMID:21922073   PMID:21925141   PMID:21956730   PMID:21980475   PMID:21987790   PMID:22103833  
PMID:22395072   PMID:22406267   PMID:22407918   PMID:22419072   PMID:22829134   PMID:22888216   PMID:22995911   PMID:23049754   PMID:23109910   PMID:23171451   PMID:23265858   PMID:23280365  
PMID:23308067   PMID:23347583   PMID:23372165   PMID:23468111   PMID:23668820   PMID:23677998   PMID:23710894   PMID:23808994   PMID:24009709   PMID:24076636   PMID:24104458   PMID:24213674  
PMID:24307737   PMID:24418751   PMID:24513807   PMID:24556395   PMID:25115738   PMID:25275127   PMID:25381357   PMID:25390653   PMID:25452463   PMID:25477528   PMID:25618030   PMID:25649790  
PMID:25807049   PMID:25827531   PMID:25872908   PMID:25878107   PMID:25929465   PMID:26041373   PMID:26116899   PMID:26260288   PMID:26798067   PMID:26969612   PMID:27327902   PMID:27368347  
PMID:27385215   PMID:27513300   PMID:28338767   PMID:28505514   PMID:28633979   PMID:29108995   PMID:29509047   PMID:30126976   PMID:30210497   PMID:30864713   PMID:31050367   PMID:31354710  
PMID:31560833   PMID:32244759   PMID:32512511   PMID:33128583   PMID:33961781   PMID:37077920   PMID:37735500   PMID:37972257  


Genomics

Comparative Map Data
CD1D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381158,178,030 - 158,186,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1158,178,030 - 158,186,427 (+)EnsemblGRCh38hg38GRCh38
GRCh371158,147,820 - 158,156,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361156,416,361 - 156,422,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341154,962,809 - 154,967,758NCBI
Celera1131,220,809 - 131,227,289 (+)NCBICelera
Cytogenetic Map1q23.1NCBI
HuRef1129,508,011 - 129,514,491 (+)NCBIHuRef
CHM1_11159,546,145 - 159,552,625 (+)NCBICHM1_1
T2T-CHM13v2.01157,297,517 - 157,323,522 (+)NCBIT2T-CHM13v2.0
Cd1d1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39386,903,141 - 86,919,665 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl386,903,141 - 86,906,748 (-)EnsemblGRCm39 Ensembl
GRCm38386,995,834 - 87,012,358 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl386,995,834 - 86,999,441 (-)EnsemblGRCm38mm10GRCm38
MGSCv37386,799,756 - 86,803,262 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36387,081,765 - 87,085,267 (-)NCBIMGSCv36mm8
Celera387,021,305 - 87,024,811 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map337.91NCBI
Cd1d1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82174,721,522 - 174,725,029 (-)NCBIGRCr8
mRatBN7.22172,423,582 - 172,427,089 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2172,423,582 - 172,427,089 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2179,568,188 - 179,571,726 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02177,590,509 - 177,594,047 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02172,190,847 - 172,194,381 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02186,330,298 - 186,333,805 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2186,330,298 - 186,333,805 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02205,728,725 - 205,732,232 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42179,011,165 - 179,014,672 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12178,961,270 - 178,964,778 (-)NCBI
Celera2166,382,474 - 166,385,981 (-)NCBICelera
Cytogenetic Map2q34NCBI
CD1D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2191,650,464 - 91,694,649 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1191,394,387 - 91,438,560 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01133,549,258 - 133,557,752 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11137,339,774 - 137,348,173 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1137,341,690 - 137,348,173 (+)Ensemblpanpan1.1panPan2
CD1D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13823,489,169 - 23,491,712 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3823,516,058 - 23,520,487 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03823,658,417 - 23,662,742 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13823,402,320 - 23,406,627 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03823,956,328 - 23,960,599 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03824,357,336 - 24,361,653 (-)NCBIUU_Cfam_GSD_1.0
CD1D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl492,094,700 - 92,101,095 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1492,096,670 - 92,101,177 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24100,437,380 - 100,442,082 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CD1D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1205,726,307 - 5,733,355 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl205,727,049 - 5,730,061 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660384,918,748 - 4,925,895 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CD1D
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3
pathogenic
NM_001766.3(CD1D):c.607+50G>A single nucleotide variant Malignant melanoma [RCV000059932] Chr1:158182360 [GRCh38]
Chr1:158152150 [GRCh37]
Chr1:156418774 [NCBI36]
Chr1:1q23.1
not provided
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2
pathogenic
NM_001371762.2(CD1D):c.145T>C (p.Trp49Arg) single nucleotide variant not provided [RCV000898682] Chr1:158181538 [GRCh38]
Chr1:158151328 [GRCh37]
Chr1:1q23.1
likely benign
NM_001371762.2(CD1D):c.190A>T (p.Thr64Ser) single nucleotide variant not provided [RCV000955795] Chr1:158181583 [GRCh38]
Chr1:158151373 [GRCh37]
Chr1:1q23.1
benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_001371762.2(CD1D):c.322T>G (p.Leu108Val) single nucleotide variant not specified [RCV004188389] Chr1:158181715 [GRCh38]
Chr1:158151505 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.65C>G (p.Pro22Arg) single nucleotide variant not specified [RCV004121679] Chr1:158181458 [GRCh38]
Chr1:158151248 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.965C>T (p.Thr322Ile) single nucleotide variant not specified [RCV004089171] Chr1:158184014 [GRCh38]
Chr1:158153804 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.352G>T (p.Ala118Ser) single nucleotide variant not specified [RCV004198606] Chr1:158182055 [GRCh38]
Chr1:158151845 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.185C>T (p.Ser62Leu) single nucleotide variant not specified [RCV004168625] Chr1:158181578 [GRCh38]
Chr1:158151368 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.554C>T (p.Pro185Leu) single nucleotide variant not specified [RCV004123355] Chr1:158182257 [GRCh38]
Chr1:158152047 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.32C>A (p.Ala11Glu) single nucleotide variant not specified [RCV004228494] Chr1:158181133 [GRCh38]
Chr1:158150923 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.1000G>T (p.Val334Phe) single nucleotide variant not specified [RCV004090574] Chr1:158184142 [GRCh38]
Chr1:158153932 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.692C>T (p.Pro231Leu) single nucleotide variant not specified [RCV004356700] Chr1:158182962 [GRCh38]
Chr1:158152752 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.571C>T (p.Leu191Phe) single nucleotide variant not specified [RCV004348082] Chr1:158182274 [GRCh38]
Chr1:158152064 [GRCh37]
Chr1:1q23.1
uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3
likely pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1
pathogenic
NM_001371762.2(CD1D):c.394T>C (p.Phe132Leu) single nucleotide variant not specified [RCV004433286] Chr1:158182097 [GRCh38]
Chr1:158151887 [GRCh37]
Chr1:1q23.1
likely benign
NM_001371762.2(CD1D):c.235C>A (p.Gln79Lys) single nucleotide variant not specified [RCV004433282] Chr1:158181628 [GRCh38]
Chr1:158151418 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.370C>T (p.Pro124Ser) single nucleotide variant not specified [RCV004433284] Chr1:158182073 [GRCh38]
Chr1:158151863 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.335T>C (p.Leu112Ser) single nucleotide variant not specified [RCV004433283] Chr1:158182038 [GRCh38]
Chr1:158151828 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.946C>T (p.Leu316Phe) single nucleotide variant not specified [RCV004433288] Chr1:158183995 [GRCh38]
Chr1:158153785 [GRCh37]
Chr1:1q23.1
uncertain significance
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 copy number gain not provided [RCV004577444] Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2
likely pathogenic
NM_001371762.2(CD1D):c.590C>T (p.Ser197Leu) single nucleotide variant not specified [RCV004433287] Chr1:158182293 [GRCh38]
Chr1:158152083 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.37C>T (p.Leu13Phe) single nucleotide variant not specified [RCV004433285] Chr1:158181138 [GRCh38]
Chr1:158150928 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.994C>G (p.Gln332Glu) single nucleotide variant not specified [RCV004433289] Chr1:158184136 [GRCh38]
Chr1:158153926 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.385A>G (p.Asn129Asp) single nucleotide variant not specified [RCV004606489] Chr1:158182088 [GRCh38]
Chr1:158151878 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.779C>T (p.Thr260Ile) single nucleotide variant not specified [RCV004606487] Chr1:158183049 [GRCh38]
Chr1:158152839 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.442T>G (p.Ser148Ala) single nucleotide variant not specified [RCV004606488] Chr1:158182145 [GRCh38]
Chr1:158151935 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.71G>A (p.Arg24Lys) single nucleotide variant not specified [RCV004898887] Chr1:158181464 [GRCh38]
Chr1:158151254 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.632G>A (p.Arg211His) single nucleotide variant not specified [RCV004898888] Chr1:158182902 [GRCh38]
Chr1:158152692 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.881A>G (p.Tyr294Cys) single nucleotide variant not specified [RCV004898889] Chr1:158183151 [GRCh38]
Chr1:158152941 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.359G>T (p.Cys120Phe) single nucleotide variant not specified [RCV004898893] Chr1:158182062 [GRCh38]
Chr1:158151852 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.515C>T (p.Thr172Met) single nucleotide variant not specified [RCV004898894] Chr1:158182218 [GRCh38]
Chr1:158152008 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.286A>G (p.Thr96Ala) single nucleotide variant not specified [RCV004898895] Chr1:158181679 [GRCh38]
Chr1:158151469 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.982C>A (p.Gln328Lys) single nucleotide variant not specified [RCV004898896] Chr1:158184031 [GRCh38]
Chr1:158153821 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.775G>A (p.Glu259Lys) single nucleotide variant not specified [RCV004898890] Chr1:158183045 [GRCh38]
Chr1:158152835 [GRCh37]
Chr1:1q23.1
uncertain significance
NM_001371762.2(CD1D):c.544G>T (p.Gly182Cys) single nucleotide variant not specified [RCV004890158] Chr1:158182247 [GRCh38]
Chr1:158152037 [GRCh37]
Chr1:1q23.1
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:200
Count of miRNA genes:181
Interacting mature miRNAs:185
Transcripts:ENST00000368171
Prediction methods:Miranda
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
A004X45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,150,519 - 158,150,648UniSTSGRCh37
Build 361156,417,143 - 156,417,272RGDNCBI36
Celera1131,221,591 - 131,221,720RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,508,793 - 129,508,922UniSTS
GeneMap99-GB4 RH Map1589.4UniSTS
Whitehead-RH Map1695.5UniSTS
SHGC-82759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,151,618 - 158,151,893UniSTSGRCh37
Build 361156,418,242 - 156,418,517RGDNCBI36
Celera1131,222,690 - 131,222,965RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,509,892 - 129,510,167UniSTS
TNG Radiation Hybrid Map171435.0UniSTS
PMC150819P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,150,779 - 158,151,087UniSTSGRCh37
Build 361156,417,403 - 156,417,711RGDNCBI36
Celera1131,221,851 - 131,222,159RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,509,053 - 129,509,361UniSTS
PMC150819P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,151,207 - 158,151,578UniSTSGRCh37
Build 361156,417,831 - 156,418,202RGDNCBI36
Celera1131,222,279 - 131,222,650RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,509,481 - 129,509,852UniSTS
PMC150819P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,152,531 - 158,152,985UniSTSGRCh37
Build 361156,419,155 - 156,419,609RGDNCBI36
Celera1131,223,603 - 131,224,057RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,510,805 - 129,511,259UniSTS
PMC150819P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,149,118 - 158,149,716UniSTSGRCh37
Build 361156,415,742 - 156,416,340RGDNCBI36
Celera1131,220,190 - 131,220,788RGD
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q22-q23UniSTS
HuRef1129,507,392 - 129,507,990UniSTS
PMC150819P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,149,655 - 158,150,312UniSTSGRCh37
Build 361156,416,279 - 156,416,936RGDNCBI36
Celera1131,220,727 - 131,221,384RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,507,929 - 129,508,586UniSTS
PMC150819P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,150,264 - 158,150,847UniSTSGRCh37
Build 361156,416,888 - 156,417,471RGDNCBI36
Celera1131,221,336 - 131,221,919RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,508,538 - 129,509,121UniSTS
RH66323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,155,974 - 158,156,100UniSTSGRCh37
Build 361156,422,598 - 156,422,724RGDNCBI36
Celera1131,227,046 - 131,227,172RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,514,248 - 129,514,374UniSTS
GeneMap99-GB4 RH Map1589.61UniSTS
D1S3312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371158,154,083 - 158,154,421UniSTSGRCh37
Build 361156,420,707 - 156,421,045RGDNCBI36
Celera1131,225,155 - 131,225,493RGD
Cytogenetic Map1q22-q23UniSTS
HuRef1129,512,357 - 129,512,695UniSTS
Whitehead-YAC Contig Map1 UniSTS
GeneMap99-G3 RH Map16012.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2370 2787 2243 4829 1714 2220 2 618 1606 457 2241 6884 6098 46 3612 832 1697 1496 166

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001319145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF142668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX106524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF742502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF751734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368171   ⟹   ENSP00000357153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,178,030 - 158,186,427 (+)Ensembl
Ensembl Acc Id: ENST00000673623   ⟹   ENSP00000501066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,180,889 - 158,186,427 (+)Ensembl
Ensembl Acc Id: ENST00000673701   ⟹   ENSP00000501010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,180,895 - 158,186,427 (+)Ensembl
Ensembl Acc Id: ENST00000673723   ⟹   ENSP00000501245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,179,947 - 158,186,427 (+)Ensembl
Ensembl Acc Id: ENST00000674023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,180,895 - 158,182,525 (+)Ensembl
Ensembl Acc Id: ENST00000674047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,181,036 - 158,182,846 (+)Ensembl
Ensembl Acc Id: ENST00000674085   ⟹   ENSP00000501100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,180,895 - 158,186,427 (+)Ensembl
RefSeq Acc Id: NM_001319145   ⟹   NP_001306074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,180,895 - 158,186,427 (+)NCBI
CHM1_11159,546,145 - 159,551,094 (+)NCBI
T2T-CHM13v2.01157,317,990 - 157,323,522 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371761   ⟹   NP_001358690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,180,895 - 158,184,896 (+)NCBI
T2T-CHM13v2.01157,317,990 - 157,321,991 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371762   ⟹   NP_001358691
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,180,895 - 158,186,427 (+)NCBI
T2T-CHM13v2.01157,317,990 - 157,323,522 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001371763   ⟹   NP_001358692
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,178,030 - 158,184,896 (+)NCBI
T2T-CHM13v2.01157,315,125 - 157,321,991 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001766   ⟹   NP_001757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,179,947 - 158,186,427 (+)NCBI
GRCh371158,147,828 - 158,156,217 (+)NCBI
Build 361156,416,361 - 156,422,841 (+)NCBI Archive
HuRef1129,508,011 - 129,514,491 (+)ENTREZGENE
CHM1_11159,546,145 - 159,552,625 (+)NCBI
T2T-CHM13v2.01157,317,042 - 157,323,522 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433945   ⟹   XP_047289901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,180,895 - 158,183,081 (+)NCBI
RefSeq Acc Id: XM_054339552   ⟹   XP_054195527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,297,522 - 157,323,522 (+)NCBI
RefSeq Acc Id: XM_054339553   ⟹   XP_054195528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,297,517 - 157,323,522 (+)NCBI
RefSeq Acc Id: NP_001757   ⟸   NM_001766
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9Y5M4 (UniProtKB/Swiss-Prot),   P15813 (UniProtKB/Swiss-Prot),   Q9UMM3 (UniProtKB/Swiss-Prot),   Q5W0J3 (UniProtKB/Swiss-Prot),   D3DVD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306074   ⟸   NM_001319145
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A669KB34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358692   ⟸   NM_001371763
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9Y5M4 (UniProtKB/Swiss-Prot),   Q9UMM3 (UniProtKB/Swiss-Prot),   Q5W0J3 (UniProtKB/Swiss-Prot),   P15813 (UniProtKB/Swiss-Prot),   D3DVD5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001358691   ⟸   NM_001371762
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9Y5M4 (UniProtKB/Swiss-Prot),   Q9UMM3 (UniProtKB/Swiss-Prot),   Q5W0J3 (UniProtKB/Swiss-Prot),   P15813 (UniProtKB/Swiss-Prot),   D3DVD5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001358690   ⟸   NM_001371761
- Peptide Label: isoform 3
- UniProtKB: A0A669KAZ2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000501066   ⟸   ENST00000673623
Ensembl Acc Id: ENSP00000501010   ⟸   ENST00000673701
Ensembl Acc Id: ENSP00000501245   ⟸   ENST00000673723
Ensembl Acc Id: ENSP00000501100   ⟸   ENST00000674085
Ensembl Acc Id: ENSP00000357153   ⟸   ENST00000368171
RefSeq Acc Id: XP_047289901   ⟸   XM_047433945
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195528   ⟸   XM_054339553
- Peptide Label: isoform X3
- UniProtKB: A0A669KB34 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054195527   ⟸   XM_054339552
- Peptide Label: isoform X2
- UniProtKB: Q9Y5M4 (UniProtKB/Swiss-Prot),   Q9UMM3 (UniProtKB/Swiss-Prot),   Q5W0J3 (UniProtKB/Swiss-Prot),   P15813 (UniProtKB/Swiss-Prot),   D3DVD5 (UniProtKB/Swiss-Prot)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15813-F1-model_v2 AlphaFold P15813 1-335 view protein structure

Promoters
RGD ID:6784873
Promoter ID:HG_KWN:5638
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:NM_001766
Position:
Human AssemblyChrPosition (strand)Source
Build 361156,416,201 - 156,416,701 (+)MPROMDB
RGD ID:6784872
Promoter ID:HG_KWN:5639
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:UC009WSR.1,   UC009WSS.1,   UC009WST.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361156,416,256 - 156,417,502 (+)MPROMDB
RGD ID:6857678
Promoter ID:EPDNEW_H2004
Type:multiple initiation site
Name:CD1D_2
Description:CD1d molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2005  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,178,044 - 158,178,104EPDNEW
RGD ID:6857680
Promoter ID:EPDNEW_H2005
Type:initiation region
Name:CD1D_1
Description:CD1d molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2004  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,180,895 - 158,180,955EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1637 AgrOrtholog
COSMIC CD1D COSMIC
Ensembl Genes ENSG00000158473 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000368171 ENTREZGENE
  ENST00000368171.5 UniProtKB/Swiss-Prot
  ENST00000673623 ENTREZGENE
  ENST00000673623.2 UniProtKB/TrEMBL
  ENST00000673701 ENTREZGENE
  ENST00000673701.2 UniProtKB/TrEMBL
  ENST00000673723 ENTREZGENE
  ENST00000673723.4 UniProtKB/Swiss-Prot
  ENST00000674085 ENTREZGENE
  ENST00000674085.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.500.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158473 GTEx
HGNC ID HGNC:1637 ENTREZGENE
Human Proteome Map CD1D Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_C1-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_class-I_related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I-like_Ag-recog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I-like_Ag-recog_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I/II-like_Ag-recog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:912 UniProtKB/Swiss-Prot
NCBI Gene 912 ENTREZGENE
OMIM 188410 OMIM
PANTHER ANTIGEN-PRESENTING GLYCOPROTEIN CD1D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC CLASS I-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26196 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A669KAZ2 ENTREZGENE, UniProtKB/TrEMBL
  A0A669KB34 ENTREZGENE, UniProtKB/TrEMBL
  CD1D_HUMAN UniProtKB/Swiss-Prot
  D3DVD5 ENTREZGENE
  P15813 ENTREZGENE
  Q5W0J3 ENTREZGENE
  Q9UMM3 ENTREZGENE
  Q9Y5M4 ENTREZGENE
  X2F926_HUMAN UniProtKB/TrEMBL
  X2GFG1_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DVD5 UniProtKB/Swiss-Prot
  Q5W0J3 UniProtKB/Swiss-Prot
  Q9UMM3 UniProtKB/Swiss-Prot
  Q9Y5M4 UniProtKB/Swiss-Prot