ASGR1 (asialoglycoprotein receptor 1) - Rat Genome Database

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Gene: ASGR1 (asialoglycoprotein receptor 1) Homo sapiens
Analyze
Symbol: ASGR1
Name: asialoglycoprotein receptor 1
RGD ID: 737103
HGNC Page HGNC:742
Description: Predicted to enable fucose binding activity and mannose binding activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within cellular response to extracellular stimulus. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ASGP-R 1; ASGPR; ASGPR 1; ASGPR1; C-type lectin domain family 4 member H1; C-type lectin domain family 4, member H1; CLEC4H1; hepatic asialoglycoprotein receptor 1; hepatic lectin H1; HL-1; Hs.12056
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,173,431 - 7,179,370 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,173,431 - 7,179,564 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,076,750 - 7,082,689 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,017,474 - 7,023,386 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,017,473 - 7,023,386NCBI
Celera177,101,987 - 7,107,556 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef176,970,042 - 6,974,571 (-)NCBIHuRef
CHM1_1177,085,514 - 7,091,656 (-)NCBICHM1_1
T2T-CHM13v2.0177,074,344 - 7,080,281 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
buspirone  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
ciprofibrate  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt atom  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
deguelin  (EXP)
dibenz[a,h]anthracene  (ISO)
disulfiram  (EXP)
ethanol  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
graphene oxide  (ISO)
GW 4064  (EXP)
Kukoamine B  (ISO)
methidathion  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ozone  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctanoic acid  (EXP)
pirinixic acid  (EXP,ISO)
progesterone  (ISO)
propanal  (EXP)
quercetin  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1774077   PMID:1924301   PMID:1935897   PMID:2834401   PMID:2982798   PMID:3753585   PMID:7843709   PMID:7844558   PMID:9349295   PMID:10734069   PMID:10859341   PMID:10891274  
PMID:11543633   PMID:11943787   PMID:12119473   PMID:12167617   PMID:12171918   PMID:12359251   PMID:12370180   PMID:12477859   PMID:12477932   PMID:15489334   PMID:15946216   PMID:16008586  
PMID:16341674   PMID:16475991   PMID:18624398   PMID:18855599   PMID:19520807   PMID:19576873   PMID:19663694   PMID:19725223   PMID:20364278   PMID:20703846   PMID:20886072   PMID:21063834  
PMID:21103663   PMID:21207081   PMID:21656538   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22001757   PMID:22219600   PMID:22613667   PMID:23233672   PMID:23241634   PMID:23383108  
PMID:23604802   PMID:23979840   PMID:24623722   PMID:24763545   PMID:24933948   PMID:25404440   PMID:25485912   PMID:27155063   PMID:27192541   PMID:27207430   PMID:27241665   PMID:28027390  
PMID:28063265   PMID:28514442   PMID:28952928   PMID:31202960   PMID:31811054   PMID:32296183   PMID:32679274   PMID:33961781   PMID:34048708   PMID:34187722   PMID:34407556   PMID:34762653  
PMID:34837059   PMID:34903854   PMID:35944360   PMID:36244648   PMID:38355848   PMID:38459023  


Genomics

Comparative Map Data
ASGR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,173,431 - 7,179,370 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,173,431 - 7,179,564 (-)EnsemblGRCh38hg38GRCh38
GRCh37177,076,750 - 7,082,689 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,017,474 - 7,023,386 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,017,473 - 7,023,386NCBI
Celera177,101,987 - 7,107,556 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef176,970,042 - 6,974,571 (-)NCBIHuRef
CHM1_1177,085,514 - 7,091,656 (-)NCBICHM1_1
T2T-CHM13v2.0177,074,344 - 7,080,281 (-)NCBIT2T-CHM13v2.0
Asgr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,939,735 - 69,948,721 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,944,911 - 69,948,720 (+)EnsemblGRCm39 Ensembl
GRCm381170,048,909 - 70,057,895 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,054,085 - 70,057,894 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,867,871 - 69,871,396 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,870,610 - 69,874,081 (+)NCBIMGSCv36mm8
Celera1177,603,053 - 77,606,577 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.98NCBI
Asgr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,274,299 - 55,278,323 (+)NCBIGRCr8
mRatBN7.21054,775,727 - 54,779,642 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,776,024 - 54,779,631 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,437,984 - 59,441,840 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,926,564 - 58,930,426 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,433,827 - 54,437,683 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,662,188 - 56,666,086 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,662,242 - 56,666,086 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,407,361 - 56,411,205 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,899,266 - 56,903,173 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11056,912,888 - 56,916,796 (+)NCBI
Celera1053,929,331 - 53,933,180 (+)NCBICelera
Cytogenetic Map10q24NCBI
Asgr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,729,345 - 9,732,355 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,728,918 - 9,732,548 (+)NCBIChiLan1.0ChiLan1.0
ASGR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21914,766,131 - 14,774,470 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11716,732,125 - 16,737,847 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,203,387 - 7,209,602 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,191,076 - 7,196,984 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,191,076 - 7,196,992 (-)Ensemblpanpan1.1panPan2
LOC489461
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,156,746 - 32,159,927 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,089,454 - 32,159,866 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,295,516 - 32,298,705 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,262,603 - 32,265,792 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,262,610 - 32,265,736 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,228,081 - 32,231,268 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,187,171 - 32,190,355 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,364,041 - 32,367,230 (-)NCBIUU_Cfam_GSD_1.0
LOC101966831
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560246,999,464 - 47,005,701 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595476,438 - 479,030 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595475,816 - 479,180 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASGR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,536,738 - 52,544,791 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,536,738 - 52,540,636 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23139,811,186 - 139,815,058 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ASGR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,546,173 - 6,553,213 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,546,404 - 6,551,456 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,864,806 - 14,870,274 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ASGR1
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 copy number gain See cases [RCV000139216] Chr17:6891357..7264234 [GRCh38]
Chr17:6794676..7167553 [GRCh37]
Chr17:6735400..7108277 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7013365-7265208)x1 copy number loss not provided [RCV000739389] Chr17:7013365..7265208 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1 copy number loss not provided [RCV001259300] Chr17:7014481..7283233 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7128416_?)dup duplication Developmental and epileptic encephalopathy, 25 [RCV001320321] Chr17:6328780..7128416 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
NC_000017.10:g.(?_6589506)_(7128436_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV001391032] Chr17:6589506..7128436 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3 copy number gain not provided [RCV002474897] Chr17:7043719..7193448 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001671.5(ASGR1):c.16C>G (p.Gln6Glu) single nucleotide variant Inborn genetic diseases [RCV002977852] Chr17:7178548 [GRCh38]
Chr17:7081867 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001671.5(ASGR1):c.727G>T (p.Asp243Tyr) single nucleotide variant Inborn genetic diseases [RCV002798365] Chr17:7173808 [GRCh38]
Chr17:7077127 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001671.5(ASGR1):c.558C>G (p.Asp186Glu) single nucleotide variant Inborn genetic diseases [RCV002641372] Chr17:7174174 [GRCh38]
Chr17:7077493 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001671.5(ASGR1):c.82C>T (p.Pro28Ser) single nucleotide variant Inborn genetic diseases [RCV003189858] Chr17:7177315 [GRCh38]
Chr17:7080634 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001671.5(ASGR1):c.466G>C (p.Val156Leu) single nucleotide variant Inborn genetic diseases [RCV003219809] Chr17:7174266 [GRCh38]
Chr17:7077585 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_001671.5(ASGR1):c.574G>A (p.Val192Ile) single nucleotide variant Inborn genetic diseases [RCV003215375] Chr17:7174158 [GRCh38]
Chr17:7077477 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_001671.5(ASGR1):c.386A>G (p.Gln129Arg) single nucleotide variant Inborn genetic diseases [RCV003375771] Chr17:7174430 [GRCh38]
Chr17:7077749 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001671.5(ASGR1):c.615A>G (p.Ile205Met) single nucleotide variant Inborn genetic diseases [RCV003354036] Chr17:7174047 [GRCh38]
Chr17:7077366 [GRCh37]
Chr17:17p13.1		 likely benign
NM_001671.5(ASGR1):c.273G>C (p.Leu91Phe) single nucleotide variant Inborn genetic diseases [RCV003383845] Chr17:7176991 [GRCh38]
Chr17:7080310 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1 copy number loss not specified [RCV003987240] Chr17:7002380..7469251 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2132
Count of miRNA genes:772
Interacting mature miRNAs:927
Transcripts:ENST00000269299, ENST00000380920, ENST00000570576, ENST00000572879, ENST00000573083, ENST00000573596, ENST00000574330, ENST00000574388
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region
RH11640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,076,806 - 7,077,001UniSTSGRCh37
Build 36177,017,530 - 7,017,725RGDNCBI36
Celera177,102,044 - 7,102,239RGD
Cytogenetic Map17p13.2UniSTS
HuRef176,970,099 - 6,970,294UniSTS
ASGR1_8213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,076,552 - 7,077,094UniSTSGRCh37
Build 36177,017,276 - 7,017,818RGDNCBI36
Celera177,101,789 - 7,102,332RGD
HuRef176,969,844 - 6,970,387UniSTS
D17S2010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,076,849 - 7,076,971UniSTSGRCh37
Build 36177,017,573 - 7,017,695RGDNCBI36
Celera177,102,087 - 7,102,209RGD
Cytogenetic Map17p13.2UniSTS
HuRef176,970,142 - 6,970,264UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 9 212 479 434 215 434 8 12 490 3 340 65 2 1
Low 1981 1599 1210 121 1137 24 3045 832 3087 236 979 1457 102 1178 1572 2
Below cutoff 436 1158 33 66 346 5 1260 1321 132 175 125 81 68 24 1187 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001197216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB070933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM818592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ653541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ410292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000269299   ⟹   ENSP00000269299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,173,431 - 7,179,370 (-)Ensembl
RefSeq Acc Id: ENST00000380920   ⟹   ENSP00000370307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,173,553 - 7,178,116 (-)Ensembl
RefSeq Acc Id: ENST00000570576   ⟹   ENSP00000458803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,174,424 - 7,177,631 (-)Ensembl
RefSeq Acc Id: ENST00000572879   ⟹   ENSP00000458530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,173,879 - 7,177,482 (-)Ensembl
RefSeq Acc Id: ENST00000573083   ⟹   ENSP00000459896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,176,832 - 7,179,355 (-)Ensembl
RefSeq Acc Id: ENST00000573596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,176,614 - 7,179,376 (-)Ensembl
RefSeq Acc Id: ENST00000574330   ⟹   ENSP00000467511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,173,558 - 7,177,046 (-)Ensembl
RefSeq Acc Id: ENST00000574388   ⟹   ENSP00000459169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,173,659 - 7,179,356 (-)Ensembl
RefSeq Acc Id: ENST00000619926   ⟹   ENSP00000481182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,173,434 - 7,179,564 (-)Ensembl
RefSeq Acc Id: NM_001197216   ⟹   NP_001184145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,173,431 - 7,179,370 (-)NCBI
GRCh37177,076,750 - 7,082,883 (-)ENTREZGENE
HuRef176,970,042 - 6,974,571 (-)ENTREZGENE
CHM1_1177,085,514 - 7,091,656 (-)NCBI
T2T-CHM13v2.0177,074,344 - 7,080,281 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001671   ⟹   NP_001662
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,173,431 - 7,179,370 (-)NCBI
GRCh37177,076,750 - 7,082,883 (-)ENTREZGENE
Build 36177,017,474 - 7,023,386 (-)NCBI Archive
HuRef176,970,042 - 6,974,571 (-)ENTREZGENE
CHM1_1177,085,514 - 7,091,656 (-)NCBI
T2T-CHM13v2.0177,074,344 - 7,080,281 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523861   ⟹   XP_011522163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,173,431 - 7,179,370 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054316159   ⟹   XP_054172134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,074,344 - 7,080,281 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001184145   ⟸   NM_001197216
- Peptide Label: isoform b
- UniProtKB: P07306 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001662   ⟸   NM_001671
- Peptide Label: isoform a
- UniProtKB: I3L1X1 (UniProtKB/Swiss-Prot),   P07306 (UniProtKB/Swiss-Prot),   Q6FGQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522163   ⟸   XM_011523861
- Peptide Label: isoform X1
- UniProtKB: I3L1X1 (UniProtKB/Swiss-Prot),   P07306 (UniProtKB/Swiss-Prot),   Q6FGQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000269299   ⟸   ENST00000269299
RefSeq Acc Id: ENSP00000458803   ⟸   ENST00000570576
RefSeq Acc Id: ENSP00000458530   ⟸   ENST00000572879
RefSeq Acc Id: ENSP00000459896   ⟸   ENST00000573083
RefSeq Acc Id: ENSP00000467511   ⟸   ENST00000574330
RefSeq Acc Id: ENSP00000459169   ⟸   ENST00000574388
RefSeq Acc Id: ENSP00000370307   ⟸   ENST00000380920
RefSeq Acc Id: ENSP00000481182   ⟸   ENST00000619926
RefSeq Acc Id: XP_054172134   ⟸   XM_054316159
- Peptide Label: isoform X1
- UniProtKB: P07306 (UniProtKB/Swiss-Prot),   I3L1X1 (UniProtKB/Swiss-Prot),   Q6FGQ5 (UniProtKB/TrEMBL)
Protein Domains
C-type lectin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07306-F1-model_v2 AlphaFold P07306 1-291 view protein structure

Promoters
RGD ID:6793757
Promoter ID:HG_KWN:24844
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC010CLX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,021,486 - 7,021,986 (-)MPROMDB
RGD ID:7233637
Promoter ID:EPDNEW_H22564
Type:initiation region
Name:ASGR1_1
Description:asialoglycoprotein 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
GRCh38177,179,370 - 7,179,430EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:742 AgrOrtholog
COSMIC ASGR1 COSMIC
Ensembl Genes ENSG00000141505 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269299 ENTREZGENE
  ENST00000269299.8 UniProtKB/Swiss-Prot
  ENST00000380920.8 UniProtKB/TrEMBL
  ENST00000570576.1 UniProtKB/TrEMBL
  ENST00000572879.5 UniProtKB/TrEMBL
  ENST00000573083.1 UniProtKB/TrEMBL
  ENST00000574330.5 UniProtKB/TrEMBL
  ENST00000574388.5 UniProtKB/Swiss-Prot
  ENST00000619926 ENTREZGENE
  ENST00000619926.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141505 GTEx
HGNC ID HGNC:742 ENTREZGENE
Human Proteome Map ASGR1 Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CD209-like_CTLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:432 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 432 ENTREZGENE
OMIM 108360 OMIM
PANTHER C-TYPE LECTIN DOMAIN CONTAINING 10A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MANNOSE, PHOSPHOLIPASE, LECTIN RECEPTOR RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lectin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lectin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25042 PharmGKB
PROSITE C_TYPE_LECTIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CLECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ASGR1_HUMAN UniProtKB/Swiss-Prot
  I3L129_HUMAN UniProtKB/TrEMBL
  I3L1F8_HUMAN UniProtKB/TrEMBL
  I3L1X1 ENTREZGENE
  I3L2S9_HUMAN UniProtKB/TrEMBL
  J3QSZ2_HUMAN UniProtKB/TrEMBL
  K7EPS5_HUMAN UniProtKB/TrEMBL
  P07306 ENTREZGENE
  Q6FGQ5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary I3L1X1 UniProtKB/Swiss-Prot