KDELR1 (KDEL endoplasmic reticulum protein retention receptor 1) - Rat Genome Database

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Gene: KDELR1 (KDEL endoplasmic reticulum protein retention receptor 1) Homo sapiens
Analyze
Symbol: KDELR1
Name: KDEL endoplasmic reticulum protein retention receptor 1
RGD ID: 1315569
HGNC Page HGNC:6304
Description: Enables KDEL sequence binding activity. Involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in bounding membrane of organelle; endoplasmic reticulum membrane; and endoplasmic reticulum-Golgi intermediate compartment.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ER lumen protein retaining receptor 1; ER lumen protein-retaining receptor 1; ERD2; ERD2.1; HDEL; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1; KDEL receptor 1; PM23; putative MAPK-activating protein PM23
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381948,382,575 - 48,397,412 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1948,382,575 - 48,391,551 (-)EnsemblGRCh38hg38GRCh38
GRCh371948,885,832 - 48,894,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,577,639 - 53,586,622 (-)NCBINCBI36Build 36hg18NCBI36
Build 341953,577,638 - 53,586,622NCBI
Celera1945,751,071 - 45,760,059 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,266,448 - 45,275,440 (-)NCBIHuRef
CHM1_11948,887,892 - 48,896,876 (-)NCBICHM1_1
T2T-CHM13v2.01951,376,721 - 51,392,513 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1310258   PMID:2172835   PMID:8392934   PMID:9118249   PMID:9405360   PMID:9472029   PMID:10708517   PMID:11703931   PMID:12477932   PMID:12761501   PMID:12821650   PMID:12975382  
PMID:14517323   PMID:15308636   PMID:15489334   PMID:17353931   PMID:18086916   PMID:21684323   PMID:21873635   PMID:22363504   PMID:22580821   PMID:22990118   PMID:23873287   PMID:24981860  
PMID:25117681   PMID:25682866   PMID:25963833   PMID:26064897   PMID:26618866   PMID:26861384   PMID:28298427   PMID:28380382   PMID:28514442   PMID:29509190   PMID:29564676   PMID:29955894  
PMID:30455355   PMID:30760704   PMID:30958660   PMID:31337861   PMID:31527615   PMID:31732153   PMID:31796584   PMID:31871319   PMID:31980649   PMID:31995728   PMID:32296183   PMID:32562023  
PMID:32645101   PMID:33060197   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34186245   PMID:34432599   PMID:35256949   PMID:35509820   PMID:35559673   PMID:35575683   PMID:35654790  
PMID:35696571   PMID:36089195   PMID:37314216   PMID:38113892  


Genomics

Comparative Map Data
KDELR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381948,382,575 - 48,397,412 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1948,382,575 - 48,391,551 (-)EnsemblGRCh38hg38GRCh38
GRCh371948,885,832 - 48,894,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,577,639 - 53,586,622 (-)NCBINCBI36Build 36hg18NCBI36
Build 341953,577,638 - 53,586,622NCBI
Celera1945,751,071 - 45,760,059 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,266,448 - 45,275,440 (-)NCBIHuRef
CHM1_11948,887,892 - 48,896,876 (-)NCBICHM1_1
T2T-CHM13v2.01951,376,721 - 51,392,513 (-)NCBIT2T-CHM13v2.0
Kdelr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,522,264 - 45,533,150 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl745,522,196 - 45,533,156 (+)EnsemblGRCm39 Ensembl
GRCm38745,872,840 - 45,883,726 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,872,772 - 45,883,732 (+)EnsemblGRCm38mm10GRCm38
MGSCv37753,128,210 - 53,139,096 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36745,740,882 - 45,751,768 (+)NCBIMGSCv36mm8
Celera741,336,964 - 41,347,893 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.57NCBI
Kdelr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,483,598 - 105,494,587 (+)NCBIGRCr8
mRatBN7.2196,347,258 - 96,358,145 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl196,347,150 - 96,358,157 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1101,733,406 - 101,744,292 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01110,205,398 - 110,216,284 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01103,495,763 - 103,506,649 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01101,859,346 - 101,870,232 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1101,859,346 - 101,870,232 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01102,938,310 - 102,949,196 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,348,396 - 96,359,282 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1196,426,506 - 96,437,393 (+)NCBI
Celera190,599,916 - 90,610,802 (+)NCBICelera
Cytogenetic Map1q22NCBI
Kdelr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555592,080,085 - 2,087,579 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555592,080,085 - 2,087,579 (+)NCBIChiLan1.0ChiLan1.0
KDELR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22054,486,143 - 54,496,447 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11956,412,418 - 56,421,882 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01945,382,456 - 45,391,338 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11953,975,895 - 53,984,913 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1953,975,895 - 53,984,914 (-)Ensemblpanpan1.1panPan2
KDELR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,860,187 - 107,869,522 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1107,381,881 - 107,391,383 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01108,385,016 - 108,394,312 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1108,382,400 - 108,393,924 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11108,051,096 - 108,060,757 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01107,698,433 - 107,707,507 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01108,534,300 - 108,543,593 (+)NCBIUU_Cfam_GSD_1.0
Kdelr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934920,882,928 - 20,891,686 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366642,500,846 - 2,509,920 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366642,502,766 - 2,509,863 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KDELR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl653,794,972 - 53,803,554 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1653,795,401 - 53,803,620 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,615,491 - 49,623,677 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KDELR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1641,640,954 - 41,649,740 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl641,640,636 - 41,650,080 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607321,423,101 - 21,432,424 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kdelr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248325,397,329 - 5,407,023 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248325,398,635 - 5,405,188 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KDELR1
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:48876760-49053557)x3 copy number gain See cases [RCV000240360] Chr19:48876760..49053557 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3 copy number gain not provided [RCV001259943] Chr19:48854319..49430535 [GRCh37]
Chr19:19q13.33		 likely pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.283G>A (p.Val95Met) single nucleotide variant not specified [RCV004171312] Chr19:48389621 [GRCh38]
Chr19:48892878 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.461C>T (p.Ala154Val) single nucleotide variant not specified [RCV004084705] Chr19:48384373 [GRCh38]
Chr19:48887630 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.7C>A (p.Leu3Ile) single nucleotide variant not specified [RCV004082568] Chr19:48391352 [GRCh38]
Chr19:48894609 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.46A>G (p.Ile16Val) single nucleotide variant not specified [RCV004275696] Chr19:48391313 [GRCh38]
Chr19:48894570 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.479C>T (p.Thr160Met) single nucleotide variant not specified [RCV004345017] Chr19:48384355 [GRCh38]
Chr19:48887612 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.298G>A (p.Val100Ile) single nucleotide variant not specified [RCV004347928] Chr19:48389606 [GRCh38]
Chr19:48892863 [GRCh37]
Chr19:19q13.33		 likely benign
NM_006801.3(KDELR1):c.561G>C (p.Gln187His) single nucleotide variant not specified [RCV004408961] Chr19:48384273 [GRCh38]
Chr19:48887530 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.595A>G (p.Ile199Val) single nucleotide variant not specified [RCV004408962] Chr19:48384239 [GRCh38]
Chr19:48887496 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_006801.3(KDELR1):c.343C>T (p.Pro115Ser) single nucleotide variant not specified [RCV004408960] Chr19:48389561 [GRCh38]
Chr19:48892818 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1822
Count of miRNA genes:746
Interacting mature miRNAs:872
Transcripts:ENST00000330720, ENST00000594643, ENST00000597017, ENST00000599084, ENST00000600980
Prediction methods:Miranda, Rnahybrid
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
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
WI-19271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,885,855 - 48,886,152UniSTSGRCh37
Build 361953,577,667 - 53,577,964RGDNCBI36
Celera1945,751,099 - 45,751,396RGD
Cytogenetic Map19q13.3UniSTS
HuRef1945,266,476 - 45,266,773UniSTS
GeneMap99-GB4 RH Map19255.29UniSTS
Whitehead-RH Map19342.5UniSTS
NCBI RH Map19542.1UniSTS
WI-9028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,886,341 - 48,886,447UniSTSGRCh37
Build 361953,578,153 - 53,578,259RGDNCBI36
Celera1945,269,930 - 45,270,036RGD
Celera1945,751,585 - 45,751,691UniSTS
Cytogenetic Map19q13.3UniSTS
HuRef1945,266,962 - 45,267,068UniSTS
GeneMap99-GB4 RH Map19266.31UniSTS
Whitehead-RH Map19339.4UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000330720   ⟹   ENSP00000329471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,382,575 - 48,391,551 (-)Ensembl
Ensembl Acc Id: ENST00000594643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,390,199 - 48,391,502 (-)Ensembl
Ensembl Acc Id: ENST00000597017   ⟹   ENSP00000470841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,382,578 - 48,390,855 (-)Ensembl
Ensembl Acc Id: ENST00000599084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,389,482 - 48,391,518 (-)Ensembl
Ensembl Acc Id: ENST00000600980   ⟹   ENSP00000472182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1948,384,239 - 48,391,511 (-)Ensembl
RefSeq Acc Id: NM_006801   ⟹   NP_006792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,382,575 - 48,391,551 (-)NCBI
GRCh371948,885,827 - 48,894,810 (-)ENTREZGENE
Build 361953,577,639 - 53,586,622 (-)NCBI Archive
HuRef1945,266,448 - 45,275,440 (-)ENTREZGENE
CHM1_11948,887,892 - 48,896,876 (-)NCBI
T2T-CHM13v2.01951,376,721 - 51,385,715 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438095   ⟹   XP_047294051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,382,575 - 48,397,412 (-)NCBI
RefSeq Acc Id: XM_054319623   ⟹   XP_054175598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01951,376,721 - 51,392,513 (-)NCBI
RefSeq Acc Id: NP_006792   ⟸   NM_006801
- UniProtKB: Q54A39 (UniProtKB/Swiss-Prot),   B2R6N4 (UniProtKB/Swiss-Prot),   Q8NBW7 (UniProtKB/Swiss-Prot),   P24390 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000470841   ⟸   ENST00000597017
Ensembl Acc Id: ENSP00000472182   ⟸   ENST00000600980
Ensembl Acc Id: ENSP00000329471   ⟸   ENST00000330720
RefSeq Acc Id: XP_047294051   ⟸   XM_047438095
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175598   ⟸   XM_054319623
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P24390-F1-model_v2 AlphaFold P24390 1-212 view protein structure

Promoters
RGD ID:13204949
Promoter ID:EPDNEW_H26057
Type:initiation region
Name:KDELR1_1
Description:KDEL endoplasmic reticulum protein retention receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,391,551 - 48,391,611EPDNEW
RGD ID:6795694
Promoter ID:HG_KWN:30441
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006801,   UC002PJA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,585,836 - 53,586,737 (-)MPROMDB
RGD ID:6853382
Promoter ID:EP74516
Type:initiation region
Name:HS_KDELR1_2
Description:KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention 1ceptor 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74515  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,586,556 - 53,586,616EPD
RGD ID:6853380
Promoter ID:EP74515
Type:multiple initiation site
Name:HS_KDELR1_1
Description:KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention 1ceptor 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74516  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,586,606 - 53,586,666EPD
RGD ID:6811624
Promoter ID:HG_ACW:42158
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:KDELR1.AAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,592,211 - 53,592,711 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6304 AgrOrtholog
COSMIC KDELR1 COSMIC
Ensembl Genes ENSG00000105438 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000330720 ENTREZGENE
  ENST00000330720.7 UniProtKB/Swiss-Prot
  ENST00000597017.5 UniProtKB/Swiss-Prot
  ENST00000600980.1 UniProtKB/TrEMBL
GTEx ENSG00000105438 GTEx
HGNC ID HGNC:6304 ENTREZGENE
Human Proteome Map KDELR1 Human Proteome Map
InterPro ER_ret_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10945 UniProtKB/Swiss-Prot
NCBI Gene 10945 ENTREZGENE
OMIM 131235 OMIM
PANTHER ER LUMEN PROTEIN-RETAINING RECEPTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10585 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ER_lumen_recept UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30083 PharmGKB
PRINTS ERLUMENR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ER_LUMEN_RECEPTOR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ER_LUMEN_RECEPTOR_2 UniProtKB/Swiss-Prot
UniProt B2R6N4 ENTREZGENE
  ERD21_HUMAN UniProtKB/Swiss-Prot
  M0R1Y2_HUMAN UniProtKB/TrEMBL
  P24390 ENTREZGENE
  Q54A39 ENTREZGENE
  Q8NBW7 ENTREZGENE
UniProt Secondary B2R6N4 UniProtKB/Swiss-Prot
  Q54A39 UniProtKB/Swiss-Prot
  Q8NBW7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 KDELR1  KDEL endoplasmic reticulum protein retention receptor 1  KDELR1  KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1  Symbol and/or name change 5135510 APPROVED