ASIP (agouti signaling protein) - Rat Genome Database

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Gene: ASIP (agouti signaling protein) Homo sapiens
Analyze
Symbol: ASIP
Name: agouti signaling protein
RGD ID: 69199
HGNC Page HGNC:745
Description: Predicted to enable melanocortin receptor binding activity and neuropeptide hormone activity. Predicted to be involved in melanin biosynthetic process; melanosome organization; and positive regulation of melanin biosynthetic process. Predicted to act upstream of or within several processes, including adult feeding behavior; epigenetic programming in the zygotic pronuclei; and melanosome transport. Located in extracellular space. Implicated in pigmentation disease. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: agouti; agouti (mouse)-signaling protein; agouti signaling protein, nonagouti homolog; agouti switch protein; agouti-signaling protein; AGSW; AGTI; AGTIL; ASP; MGC126092; MGC126093; nonagouti homolog; SHEP9
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
Candidate Gene For: BW184_H BW169_H BW175_H BW180_H BW172_H BW170_H BW183_H BW179_H BW186_H BW174_H BW176_H BW182_H BW185_H BW181_H BW171_H BW187_H BW173_H BW305_H BW312_H BW311_H BW306_H BW177_H BW178_H GLUCO208_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382034,186,493 - 34,269,344 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2034,194,569 - 34,269,344 (+)EnsemblGRCh38hg38GRCh38
GRCh372032,782,368 - 32,857,150 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,311,832 - 32,320,809 (+)NCBINCBI36Build 36hg18NCBI36
Build 342032,311,831 - 32,320,809NCBI
Celera2029,597,653 - 29,606,630 (+)NCBICelera
Cytogenetic Map20q11.22NCBI
HuRef2029,629,973 - 29,638,950 (+)NCBIHuRef
CHM1_12032,749,256 - 32,758,241 (+)NCBICHM1_1
T2T-CHM13v2.02035,912,881 - 35,992,459 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Experimental Data Annotations     Click to see Annotation Detail View

Vertebrate Trait

References

References - curated
# Reference Title Reference Citation
1. Neomorphic agouti mutations in obese yellow mice. Duhl DM, etal., Nat Genet. 1994 Sep;8(1):59-65.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Glucose metabolism and insulin sensitivity in transgenic mice overexpressing leptin with lethal yellow agouti mutation: usefulness of leptin for the treatment of obesity-associated diabetes. Masuzaki H, etal., Diabetes. 1999 Aug;48(8):1615-22.
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. The critical role of the melanocortin system in the control of energy balance. Seeley RJ, etal., Annu Rev Nutr 2004;24:133-49.
8. Agouti expression in human adipose tissue: functional consequences and increased expression in type 2 diabetes. Smith SR, etal., Diabetes. 2003 Dec;52(12):2914-22.
Additional References at PubMed
PMID:7757071   PMID:7937887   PMID:9058374   PMID:9761782   PMID:11447115   PMID:11780052   PMID:11833005   PMID:12055320   PMID:12477932   PMID:12519127   PMID:15016309   PMID:15489334  
PMID:15701517   PMID:15726415   PMID:15998953   PMID:16091846   PMID:16704456   PMID:17525122   PMID:17952075   PMID:18488027   PMID:18488028   PMID:18563784   PMID:18637131   PMID:19382693  
PMID:19384953   PMID:19710684   PMID:19913121   PMID:20585627   PMID:20628086   PMID:20831872   PMID:21221757   PMID:21873635   PMID:21983787   PMID:22447455   PMID:22628150   PMID:22976474  
PMID:23548203   PMID:25382380   PMID:25705849   PMID:25801600   PMID:28005267   PMID:33660365   PMID:33961781   PMID:36536132  


Genomics

Comparative Map Data
ASIP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382034,186,493 - 34,269,344 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2034,194,569 - 34,269,344 (+)EnsemblGRCh38hg38GRCh38
GRCh372032,782,368 - 32,857,150 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,311,832 - 32,320,809 (+)NCBINCBI36Build 36hg18NCBI36
Build 342032,311,831 - 32,320,809NCBI
Celera2029,597,653 - 29,606,630 (+)NCBICelera
Cytogenetic Map20q11.22NCBI
HuRef2029,629,973 - 29,638,950 (+)NCBIHuRef
CHM1_12032,749,256 - 32,758,241 (+)NCBICHM1_1
T2T-CHM13v2.02035,912,881 - 35,992,459 (+)NCBIT2T-CHM13v2.0
a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392154,792,519 - 154,892,932 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2154,633,322 - 154,892,932 (+)EnsemblGRCm39 Ensembl
GRCm382154,950,599 - 155,051,012 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2155,018,266 - 155,027,104 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl2154,791,402 - 155,051,012 (+)EnsemblGRCm38mm10GRCm38
MGSCv372154,839,306 - 154,876,748 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362154,705,018 - 154,742,423 (+)NCBIMGSCv36mm8
Celera2160,940,588 - 160,977,934 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map276.83NCBI
Asip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83163,933,768 - 164,021,377 (+)NCBIGRCr8
mRatBN7.23143,473,584 - 143,561,170 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3143,555,696 - 143,561,171 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3147,341,174 - 147,428,809 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03155,958,462 - 156,046,095 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03153,697,992 - 153,785,636 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03150,492,010 - 150,579,870 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3150,574,473 - 150,579,870 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03156,860,395 - 156,949,277 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43145,445,175 - 145,536,831 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13145,350,796 - 145,442,453 (+)NCBI
Celera3142,203,571 - 142,291,520 (+)NCBICelera
Cytogenetic Map3q41NCBI
Asip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542227,020,386 - 27,057,626 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542227,021,810 - 27,150,339 (-)NCBIChiLan1.0ChiLan1.0
ASIP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22139,987,569 - 39,997,795 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12039,980,671 - 39,990,897 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02030,583,038 - 30,592,726 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12031,718,169 - 31,727,217 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2031,718,169 - 31,727,217 (+)Ensemblpanpan1.1panPan2
ASIP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12423,338,757 - 23,393,913 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2423,354,888 - 23,393,896 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2422,999,470 - 23,041,722 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02424,041,356 - 24,084,629 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2424,041,485 - 24,084,612 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12423,334,340 - 23,373,386 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02423,428,191 - 23,467,532 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02423,865,404 - 23,906,575 (+)NCBIUU_Cfam_GSD_1.0
Asip
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640172,298,779 - 172,407,882 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365616,341,623 - 6,346,458 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365616,341,667 - 6,346,440 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASIP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1737,545,474 - 37,718,779 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11737,542,615 - 37,718,787 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21742,538,122 - 42,686,968 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASIP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1238,479,328 - 38,568,756 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605088,288,816 - 88,382,787 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asip
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248425,079,499 - 5,084,933 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248425,079,499 - 5,084,933 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASIP
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001672.3(ASIP):c.*25A>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR [RCV000009892] Chr20:34269192 [GRCh38]
Chr20:32856998 [GRCh37]
Chr20:20q11.22		 pathogenic|association
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NC_000020.11:g.34251427C>A single nucleotide variant Lung cancer [RCV000101542] Chr20:34251427 [GRCh38]
Chr20:32839233 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.22(chr20:32815819-33046013)x4 copy number gain See cases [RCV000510835] Chr20:32815819..33046013 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.22(chr20:32436483-33276757)x3 copy number gain not provided [RCV000684124] Chr20:32436483..33276757 [GRCh37]
Chr20:20q11.22		 likely benign
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV000708204] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
NC_000020.10:g.(?_31996293)_(33338342_?)del deletion Long QT syndrome [RCV000708495] Chr20:31996293..33338342 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.22(chr20:32854720-32914371)x3 copy number gain Intellectual disability [RCV000787292] Chr20:32854720..32914371 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.11:g.34210141_34393539dup duplication Obesity and hypopigmentation [RCV004584255] Chr20:34210141..34393539 [GRCh38]
Chr20:20q11.22		 pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23		 pathogenic
NM_001672.3(ASIP):c.264C>A (p.Pro88=) single nucleotide variant not provided [RCV000955225] Chr20:34269032 [GRCh38]
Chr20:32856838 [GRCh37]
Chr20:20q11.22		 benign
GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3 copy number gain not provided [RCV001007091] Chr20:31966407..33169058 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV001300227] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) copy number gain not specified [RCV002052709] Chr20:25442597..33761550 [GRCh37]
Chr20:20p11.21-q11.22		 pathogenic
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22		 likely pathogenic
NC_000020.10:g.(?_31189994)_(34287210_?)del deletion not provided [RCV001956104] Chr20:31189994..34287210 [GRCh37]
Chr20:20q11.21-11.22		 pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_001672.3(ASIP):c.124G>T (p.Val42Leu) single nucleotide variant not specified [RCV004101603] Chr20:34260498 [GRCh38]
Chr20:32848304 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_001672.3(ASIP):c.134T>C (p.Leu45Pro) single nucleotide variant not specified [RCV004208409] Chr20:34260508 [GRCh38]
Chr20:32848314 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_001672.3(ASIP):c.223A>G (p.Lys75Glu) single nucleotide variant not specified [RCV004179558] Chr20:34268991 [GRCh38]
Chr20:32856797 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_001672.3(ASIP):c.181C>A (p.Gln61Lys) single nucleotide variant not specified [RCV004095390] Chr20:34262852 [GRCh38]
Chr20:32850658 [GRCh37]
Chr20:20q11.22		 likely benign
NM_001672.3(ASIP):c.185T>A (p.Ile62Asn) single nucleotide variant not specified [RCV004420804] Chr20:34262856 [GRCh38]
Chr20:32850662 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_001672.3(ASIP):c.116A>T (p.Asn39Ile) single nucleotide variant not specified [RCV004420803] Chr20:34260490 [GRCh38]
Chr20:32848296 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_001672.3(ASIP):c.297C>G (p.Ser99Arg) single nucleotide variant not specified [RCV004420805] Chr20:34269065 [GRCh38]
Chr20:32856871 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.10:g.(?_31368130)_(34287210_?)del deletion Glutathione synthetase deficiency with 5-oxoprolinuria [RCV004579432] Chr20:31368130..34287210 [GRCh37]
Chr20:20q11.21-11.22		 pathogenic
NC_000020.10:g.(?_31571600)_(33001705_?)del deletion Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV004579470] Chr20:31571600..33001705 [GRCh37]
Chr20:20q11.21-11.22		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:802
Count of miRNA genes:388
Interacting mature miRNAs:431
Transcripts:ENST00000374954, ENST00000568305
Prediction methods:Microtar, 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
406891270GWAS540246_HAgouti-signaling protein measurement QTL GWAS540246 (human)1e-136Agouti-signaling protein measurement203423141734231418Human
407224140GWAS873116_Hremission, hepatitis C virus infection QTL GWAS873116 (human)0.0000006remission, hepatitis C virus infection203419602134196022Human
407173577GWAS822553_Hbalding measurement QTL GWAS822553 (human)1e-13balding measurementcoat/hair morphological measurement (CMO:0001807)203425996134259962Human
407168841GWAS817817_Hnon-melanoma skin carcinoma QTL GWAS817817 (human)1e-10non-melanoma skin carcinoma203425990534259906Human
407189610GWAS838586_Hblood protein measurement QTL GWAS838586 (human)4e-477blood protein measurementblood protein measurement (CMO:0000028)203419080234190803Human
407345128GWAS994104_Halcohol consumption measurement QTL GWAS994104 (human)5e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)203421891534218916Human
407231156GWAS880132_Hblood protein measurement QTL GWAS880132 (human)2e-395blood protein measurementblood protein measurement (CMO:0000028)203419080234190803Human
406955254GWAS604230_HAgouti-signaling protein measurement QTL GWAS604230 (human)3e-428Agouti-signaling protein measurement203423141734231418Human
407167379GWAS816355_Hheel bone mineral density QTL GWAS816355 (human)1e-21heel bone mineral densitybone mineral density (CMO:0001226)203425996134259962Human
407033627GWAS682603_Halcohol consumption measurement QTL GWAS682603 (human)3e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)203421908534219086Human
407227615GWAS876591_Hblood protein measurement QTL GWAS876591 (human)4e-401blood protein measurementblood protein measurement (CMO:0000028)203419080234190803Human
407184505GWAS833481_Hblood protein measurement QTL GWAS833481 (human)2e-294blood protein measurementblood protein measurement (CMO:0000028)203419080234190803Human
407228921GWAS877897_Hblood protein measurement QTL GWAS877897 (human)3e-345blood protein measurementblood protein measurement (CMO:0000028)203419080234190803Human
407272345GWAS921321_Hbody height QTL GWAS921321 (human)2e-23body height (VT:0001253)body height (CMO:0000106)203423206534232066Human

Markers in Region
Z94291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372032,852,179 - 32,852,343UniSTSGRCh37
Build 362032,315,840 - 32,316,004RGDNCBI36
Celera2029,601,661 - 29,601,825RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2029,633,981 - 29,634,145UniSTS
BCD1491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372032,852,098 - 32,852,193UniSTSGRCh37
Build 362032,315,759 - 32,315,854RGDNCBI36
Celera2029,601,580 - 29,601,675RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2029,633,900 - 29,633,995UniSTS
GeneMap99-GB4 RH Map20197.42UniSTS
NCBI RH Map20299.3UniSTS
SHGC-36988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372032,857,034 - 32,857,133UniSTSGRCh37
Build 362032,320,695 - 32,320,794RGDNCBI36
Celera2029,606,516 - 29,606,615RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2029,638,836 - 29,638,935UniSTS
GeneMap99-GB4 RH Map20203.92UniSTS
Whitehead-RH Map20209.5UniSTS
NCBI RH Map20299.3UniSTS


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
1170 2205 2537 1911 4508 1660 2195 3 603 1295 446 2218 6068 5332 35 3324 791 1690 1486 164

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH005446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY805391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY805393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L37019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000374954   ⟹   ENSP00000364092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2034,241,423 - 34,269,344 (+)Ensembl
Ensembl Acc Id: ENST00000568305   ⟹   ENSP00000454804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2034,194,569 - 34,269,176 (+)Ensembl
RefSeq Acc Id: NM_001385218   ⟹   NP_001372147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,194,562 - 34,269,344 (+)NCBI
T2T-CHM13v2.02035,920,950 - 35,992,459 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001672   ⟹   NP_001663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,241,423 - 34,269,344 (+)NCBI
GRCh372032,829,188 - 32,857,150 (+)NCBI
Build 362032,311,832 - 32,320,809 (+)NCBI Archive
HuRef2029,629,973 - 29,638,950 (+)ENTREZGENE
CHM1_12032,749,256 - 32,758,241 (+)NCBI
T2T-CHM13v2.02035,964,510 - 35,992,459 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528820   ⟹   XP_011527122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,217,390 - 34,269,344 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528821   ⟹   XP_011527123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,186,493 - 34,269,344 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054323450   ⟹   XP_054179425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02035,943,782 - 35,992,459 (+)NCBI
RefSeq Acc Id: XM_054323451   ⟹   XP_054179426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02035,912,881 - 35,992,459 (+)NCBI
RefSeq Acc Id: NP_001663   ⟸   NM_001672
- Peptide Label: precursor
- UniProtKB: Q3SXL2 (UniProtKB/Swiss-Prot),   P42127 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527123   ⟸   XM_011528821
- Peptide Label: isoform X1
- UniProtKB: Q3SXL2 (UniProtKB/Swiss-Prot),   P42127 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527122   ⟸   XM_011528820
- Peptide Label: isoform X1
- UniProtKB: Q3SXL2 (UniProtKB/Swiss-Prot),   P42127 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000364092   ⟸   ENST00000374954
Ensembl Acc Id: ENSP00000454804   ⟸   ENST00000568305
RefSeq Acc Id: NP_001372147   ⟸   NM_001385218
- Peptide Label: precursor
- UniProtKB: P42127 (UniProtKB/Swiss-Prot),   Q3SXL2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179426   ⟸   XM_054323451
- Peptide Label: isoform X1
- UniProtKB: P42127 (UniProtKB/Swiss-Prot),   Q3SXL2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179425   ⟸   XM_054323450
- Peptide Label: isoform X1
- UniProtKB: P42127 (UniProtKB/Swiss-Prot),   Q3SXL2 (UniProtKB/Swiss-Prot)
Protein Domains
Agouti

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P42127-F1-model_v2 AlphaFold P42127 1-132 view protein structure

Promoters
RGD ID:6798527
Promoter ID:HG_KWN:39118
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000078767
Position:
Human AssemblyChrPosition (strand)Source
Build 362032,311,466 - 32,311,966 (+)MPROMDB
RGD ID:13206721
Promoter ID:EPDNEW_H26941
Type:single initiation site
Name:ASIP_2
Description:agouti signaling protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26942  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,186,483 - 34,186,543EPDNEW
RGD ID:13206723
Promoter ID:EPDNEW_H26942
Type:single initiation site
Name:ASIP_1
Description:agouti signaling protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26941  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,260,337 - 34,260,397EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:745 AgrOrtholog
COSMIC ASIP COSMIC
Ensembl Genes ENSG00000101440 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374954 ENTREZGENE
  ENST00000374954.4 UniProtKB/Swiss-Prot
  ENST00000568305 ENTREZGENE
  ENST00000568305.5 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.760.10 UniProtKB/Swiss-Prot
GTEx ENSG00000101440 GTEx
HGNC ID HGNC:745 ENTREZGENE
Human Proteome Map ASIP Human Proteome Map
InterPro Agouti UniProtKB/Swiss-Prot
  Agouti_dom UniProtKB/Swiss-Prot
  Agouti_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:434 UniProtKB/Swiss-Prot
NCBI Gene 434 ENTREZGENE
OMIM 600201 OMIM
PANTHER AGOUTI-SIGNALING PROTEIN UniProtKB/Swiss-Prot
  PTHR16551 UniProtKB/Swiss-Prot
Pfam Agouti UniProtKB/Swiss-Prot
PharmGKB PA25045 PharmGKB
PROSITE AGOUTI_1 UniProtKB/Swiss-Prot
  AGOUTI_2 UniProtKB/Swiss-Prot
SMART Agouti UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57055 UniProtKB/Swiss-Prot
UniProt ASIP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3SXL2 ENTREZGENE
UniProt Secondary Q3SXL2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ASIP  agouti signaling protein  ASIP  agouti signaling protein, nonagouti homolog (mouse)  Symbol and/or name change 5135510 APPROVED