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Gene: MAS1L (MAS1 proto-oncogene like, G protein-coupled receptor) Homo sapiens

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Symbol:

MAS1L

Name:

MAS1 proto-oncogene like, G protein-coupled receptor

RGD ID:

1351772

HGNC Page

HGNC:13961

Description:

Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

dJ994E9.2; MAS-L; MAS-R; mas-related G protein-coupled MRG; mas-related G-protein coupled receptor MRG; MAS1 oncogene-like; MAS1-like; MGC119987; MRG

RGD Orthologs

Mouse

Rat

Bonobo

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

GPR53P MAS1LP1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	29,486,697 - 29,487,956 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	29,486,697 - 29,487,956 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	29,454,474 - 29,455,733 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	29,562,522 - 29,563,658 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	29,562,521 - 29,563,658	NCBI
Celera	6	31,060,587 - 31,061,723 (-)	NCBI		Celera
Cytogenetic Map	6	p22.1	NCBI
HuRef	6	29,261,701 - 29,262,837 (-)	NCBI		HuRef
CHM1_1	6	29,456,662 - 29,457,798 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	29,361,354 - 29,362,613 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAS1L	Human	megacolon		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Megacolon	ClinVar	PMID:21681106

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAS1L	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Mrgprh (Mus musculus)	6480464	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to MRGPRH promoter]	CTD	PMID:19654925
MAS1L	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	Mrgprh (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of MRGPRH mRNA	CTD	PMID:18648102
MAS1L	Human	4,4'-sulfonyldiphenol	decreases methylation	EXP		6480464	bisphenol S results in decreased methylation of MAS1L gene	CTD	PMID:31601247
MAS1L	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of MAS1L exon and Benzo(a)pyrene results in increased methylation of MAS1L promoter	CTD	PMID:27901495
MAS1L	Human	bisphenol A	decreases expression	ISO	Mas1l (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of MRGPRH mRNA	CTD	PMID:25181051
MAS1L	Human	doxorubicin	decreases expression	ISO	Mrgprh (Mus musculus)	6480464	Doxorubicin results in decreased expression of MRGPRH mRNA	CTD	PMID:28608983 and PMID:36227756
MAS1L	Human	epoxiconazole	increases expression	ISO	Mrgprh (Mus musculus)	6480464	epoxiconazole results in increased expression of MRGPRH mRNA	CTD	PMID:35436446
MAS1L	Human	folic acid	decreases expression	EXP		6480464	Folic Acid results in decreased expression of MAS1L mRNA	CTD	PMID:21867686
MAS1L	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of MAS1L mRNA	CTD	PMID:23557933
MAS1L	Human	thioacetamide	increases methylation	ISO	Mas1l (Rattus norvegicus)	6480464	Thioacetamide results in increased methylation of MRGPRH promoter	CTD	PMID:27914986
MAS1L	Human	titanium dioxide	increases expression	ISO	Mrgprh (Mus musculus)	6480464	titanium dioxide results in increased expression of MRGPRH mRNA	CTD	PMID:35295148
MAS1L	Human	trichloroethene	increases expression	ISO	Mas1l (Rattus norvegicus)	6480464	Trichloroethylene results in increased expression of MAS1L mRNA	CTD	PMID:33387578
MAS1L	Human	triptonide	increases expression	ISO	Mrgprh (Mus musculus)	6480464	triptonide results in increased expression of MRGPRH mRNA	CTD	PMID:33045310

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAS1L	Human	G protein-coupled receptor signaling pathway	involved_in	NAS		150520179	PMID:1723144	UniProt	PMID:1723144
MAS1L	Human	G protein-coupled receptor signaling pathway	involved_in	IBA	MGI:3033142 more ...	150520179		GO_Central	GO_REF:0000033
MAS1L	Human	G protein-coupled receptor signaling pathway	involved_in	IEA	UniProtKB-KW:KW-0297	150520179		UniProt	GO_REF:0000043
MAS1L	Human	G protein-coupled receptor signaling pathway	involved_in	IEA	InterPro:IPR000276 and InterPro:IPR026234	150520179		InterPro	GO_REF:0000002
MAS1L	Human	signal transduction	involved_in	IEA	UniProtKB-KW:KW-0807	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAS1L	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
MAS1L	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
MAS1L	Human	membrane	located_in	IEA	InterPro:IPR000276 more ...	150520179		InterPro	GO_REF:0000002
MAS1L	Human	membrane	located_in	NAS		150520179	PMID:1723144	UniProt	PMID:1723144
MAS1L	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
MAS1L	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
MAS1L	Human	plasma membrane	is_active_in	IBA	MGI:2684085 more ...	150520179		GO_Central	GO_REF:0000033
MAS1L	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
MAS1L	Human	plasma membrane	located_in	IDA		150520179		HPA	GO_REF:0000052

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAS1L	Human	G protein-coupled receptor activity	enables	IEA	InterPro:IPR000276 and InterPro:IPR026234	150520179		InterPro	GO_REF:0000002
MAS1L	Human	G protein-coupled receptor activity	enables	IBA	MGI:3033095 more ...	150520179		GO_Central	GO_REF:0000033
MAS1L	Human	G protein-coupled receptor activity	enables	NAS		150520179	PMID:1723144	UniProt	PMID:1723144
MAS1L	Human	G protein-coupled receptor activity	enables	IEA	UniProtKB-KW:KW-0297	150520179		UniProt	GO_REF:0000043

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
MAS1L	Human	Megacolon		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Megacolon	ClinVar	PMID:21681106

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:1723144	PMID:11551509	PMID:12477932	PMID:14574404	PMID:15489334	PMID:18029348	PMID:18636314	PMID:19851445	PMID:21873635	PMID:33961781

MAS1L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	29,486,697 - 29,487,956 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	29,486,697 - 29,487,956 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	29,454,474 - 29,455,733 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	29,562,522 - 29,563,658 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	29,562,521 - 29,563,658	NCBI
Celera	6	31,060,587 - 31,061,723 (-)	NCBI		Celera
Cytogenetic Map	6	p22.1	NCBI
HuRef	6	29,261,701 - 29,262,837 (-)	NCBI		HuRef
CHM1_1	6	29,456,662 - 29,457,798 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	29,361,354 - 29,362,613 (-)	NCBI		T2T-CHM13v2.0

Mrgprh
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	13,094,921 - 13,096,729 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	13,094,921 - 13,096,864 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	12,876,034 - 12,877,842 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	12,876,034 - 12,877,977 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	13,068,900 - 13,070,708 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	12,718,966 - 12,720,774 (+)	NCBI		MGSCv36	mm8
Celera	17	12,907,930 - 12,909,738 (+)	NCBI		Celera
Cytogenetic Map	17	A1	NCBI
cM Map	17	8.7	NCBI

Mas1l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	50,416,178 - 50,427,730 (-)	NCBI		GRCr8
mRatBN7.2	1	47,871,592 - 47,879,942 (-)	NCBI	mRatBN7.2	mRatBN7.2
UTH_Rnor_SHR_Utx	1	48,564,118 - 48,565,083 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	54,549,908 - 54,550,873 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	48,639,637 - 48,640,602 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	48,068,389 - 48,206,902 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	48,069,194 - 48,070,536 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	51,546,345 - 51,683,995 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	42,146,949 - 42,147,914 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	42,149,893 - 42,150,859 (-)	NCBI
Celera	1	43,672,936 - 43,673,901 (-)	NCBI		Celera
Cytogenetic Map	1	q11	NCBI

MAS1L
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	44,110,393 - 44,172,799 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	40,073,708 - 40,136,145 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	29,295,079 - 29,357,477 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	29,955,683 - 29,957,161 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	29,955,952 - 29,957,161 (-)	Ensembl	panpan1.1		panPan2

Variants in MAS1L
37 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]\|See cases [RCV000052180]	Chr6:18120520..30767516 [GRCh38] Chr6:18120751..30735293 [GRCh37] Chr6:18228730..30843272 [NCBI36] Chr6:6p22.3-21.33	pathogenic
NM_052967.1(MAS1L):c.467C>T (p.Ser156Phe)	single nucleotide variant	Malignant melanoma [RCV000067262]	Chr6:29487436 [GRCh38] Chr6:29455213 [GRCh37] Chr6:29563192 [NCBI36] Chr6:6p22.1	not provided
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	copy number gain	See cases [RCV000138956]	Chr6:3224310..30657190 [GRCh38] Chr6:3224544..30624967 [GRCh37] Chr6:3169543..30732946 [NCBI36] Chr6:6p25.2-21.33	pathogenic
GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	copy number gain	See cases [RCV000141858]	Chr6:28763187..29769828 [GRCh38] Chr6:28730964..29737605 [GRCh37] Chr6:28838943..29845584 [NCBI36] Chr6:6p22.1	uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p22.1(chr6:28735761-29585573)x1	copy number loss	See cases [RCV000445803]	Chr6:28735761..29585573 [GRCh37] Chr6:6p22.1	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3	copy number gain	not provided [RCV000745592]	Chr6:28130359..32108367 [GRCh37] Chr6:6p22.1-21.32	uncertain significance
GRCh37/hg19 6p22.1(chr6:29452958-29501514)x1	copy number loss	not provided [RCV000745611]	Chr6:29452958..29501514 [GRCh37] Chr6:6p22.1	benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NM_052967.2(MAS1L):c.189G>T (p.Gln63His)	single nucleotide variant	not specified [RCV004297025]	Chr6:29487714 [GRCh38] Chr6:29455491 [GRCh37] Chr6:6p22.1	uncertain significance
GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	copy number gain	not provided [RCV002472477]	Chr6:29162783..30236331 [GRCh37] Chr6:6p22.1	uncertain significance
NC_000006.11:g.28005012_31683185del	deletion	Megacolon [RCV001290055]	Chr6:28005012..31683185 [GRCh37] Chr6:6p22.1-21.33	likely pathogenic
GRCh37/hg19 6p22.1(chr6:28735761-29585573)	copy number loss	not specified [RCV002053563]	Chr6:28735761..29585573 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.661T>C (p.Cys221Arg)	single nucleotide variant	not specified [RCV004230513]	Chr6:29487242 [GRCh38] Chr6:29455019 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.1052G>A (p.Gly351Asp)	single nucleotide variant	not specified [RCV004216275]	Chr6:29486851 [GRCh38] Chr6:29454628 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.718T>G (p.Cys240Gly)	single nucleotide variant	not specified [RCV004188432]	Chr6:29487185 [GRCh38] Chr6:29454962 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.697G>T (p.Ala233Ser)	single nucleotide variant	not specified [RCV004148303]	Chr6:29487206 [GRCh38] Chr6:29454983 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.284C>T (p.Thr95Ile)	single nucleotide variant	not specified [RCV004083836]	Chr6:29487619 [GRCh38] Chr6:29455396 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.806C>T (p.Ser269Leu)	single nucleotide variant	not specified [RCV004073969]	Chr6:29487097 [GRCh38] Chr6:29454874 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.1123G>A (p.Asp375Asn)	single nucleotide variant	not provided [RCV004695384]\|not specified [RCV004090865]	Chr6:29486780 [GRCh38] Chr6:29454557 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.554G>A (p.Arg185His)	single nucleotide variant	not specified [RCV004255287]	Chr6:29487349 [GRCh38] Chr6:29455126 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.511C>T (p.Arg171Trp)	single nucleotide variant	not specified [RCV004285115]	Chr6:29487392 [GRCh38] Chr6:29455169 [GRCh37] Chr6:6p22.1	likely benign
NM_052967.2(MAS1L):c.304T>C (p.Cys102Arg)	single nucleotide variant	not specified [RCV004272761]	Chr6:29487599 [GRCh38] Chr6:29455376 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.239C>G (p.Pro80Arg)	single nucleotide variant	not specified [RCV004297838]	Chr6:29487664 [GRCh38] Chr6:29455441 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.96C>A (p.His32Gln)	single nucleotide variant	not specified [RCV004346523]	Chr6:29487807 [GRCh38] Chr6:29455584 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.418G>A (p.Gly140Arg)	single nucleotide variant	not specified [RCV004353123]	Chr6:29487485 [GRCh38] Chr6:29455262 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.349G>A (p.Ala117Thr)	single nucleotide variant	not specified [RCV004416524]	Chr6:29487554 [GRCh38] Chr6:29455331 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.563A>G (p.Tyr188Cys)	single nucleotide variant	not specified [RCV004416527]	Chr6:29487340 [GRCh38] Chr6:29455117 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.220C>A (p.Pro74Thr)	single nucleotide variant	not specified [RCV004416523]	Chr6:29487683 [GRCh38] Chr6:29455460 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.358G>A (p.Val120Met)	single nucleotide variant	not specified [RCV004416525]	Chr6:29487545 [GRCh38] Chr6:29455322 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.547T>G (p.Cys183Gly)	single nucleotide variant	not specified [RCV004416526]	Chr6:29487356 [GRCh38] Chr6:29455133 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.773A>C (p.Lys258Thr)	single nucleotide variant	not specified [RCV004416528]	Chr6:29487130 [GRCh38] Chr6:29454907 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.844G>A (p.Val282Met)	single nucleotide variant	not specified [RCV004416529]	Chr6:29487059 [GRCh38] Chr6:29454836 [GRCh37] Chr6:6p22.1	likely benign
NM_052967.2(MAS1L):c.616A>G (p.Ile206Val)	single nucleotide variant	not specified [RCV004636571]	Chr6:29487287 [GRCh38] Chr6:29455064 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.1057G>A (p.Asp353Asn)	single nucleotide variant	not specified [RCV004636570]	Chr6:29486846 [GRCh38] Chr6:29454623 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.49G>A (p.Val17Met)	single nucleotide variant	not specified [RCV004636572]	Chr6:29487854 [GRCh38] Chr6:29455631 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.949G>A (p.Val317Met)	single nucleotide variant	not specified [RCV004643106]	Chr6:29486954 [GRCh38] Chr6:29454731 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.880A>G (p.Thr294Ala)	single nucleotide variant	not specified [RCV004643107]	Chr6:29487023 [GRCh38] Chr6:29454800 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.894A>C (p.Leu298Phe)	single nucleotide variant	not specified [RCV004643108]	Chr6:29487009 [GRCh38] Chr6:29454786 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.643T>C (p.Trp215Arg)	single nucleotide variant	not specified [RCV004636569]	Chr6:29487260 [GRCh38] Chr6:29455037 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.244G>A (p.Ala82Thr)	single nucleotide variant	not specified [RCV004940864]	Chr6:29487659 [GRCh38] Chr6:29455436 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.784G>T (p.Val262Phe)	single nucleotide variant	not specified [RCV004940862]	Chr6:29487119 [GRCh38] Chr6:29454896 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.617T>C (p.Ile206Thr)	single nucleotide variant	not specified [RCV004940860]	Chr6:29487286 [GRCh38] Chr6:29455063 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.932C>T (p.Pro311Leu)	single nucleotide variant	not specified [RCV004940859]	Chr6:29486971 [GRCh38] Chr6:29454748 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.1048G>A (p.Ala350Thr)	single nucleotide variant	not specified [RCV004940865]	Chr6:29486855 [GRCh38] Chr6:29454632 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.791C>T (p.Ala264Val)	single nucleotide variant	not specified [RCV004940858]	Chr6:29487112 [GRCh38] Chr6:29454889 [GRCh37] Chr6:6p22.1	likely benign
NM_052967.2(MAS1L):c.1089T>A (p.His363Gln)	single nucleotide variant	not specified [RCV004940863]	Chr6:29486814 [GRCh38] Chr6:29454591 [GRCh37] Chr6:6p22.1	uncertain significance
NM_052967.2(MAS1L):c.390C>A (p.Phe130Leu)	single nucleotide variant	not specified [RCV004940861]	Chr6:29487513 [GRCh38] Chr6:29455290 [GRCh37] Chr6:6p22.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	238
Count of miRNA genes:	230
Interacting mature miRNAs:	237
Transcripts:	ENST00000377127
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1358854	MULTSCL4_H	Multiple sclerosis susceptibility QTL 4 (human)			Multiple sclerosis susceptibility		6	6911960	32911960	Human
1358839	MULTSCL5_H	Multiple sclerosis susceptibility QTL 5 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
1643377	BW325_H	Body weight QTL 325 (human)	2.32	0.0005	Body fat amount		6	6911960	32911960	Human
1643569	GLUCO21_H	Glucose level QTL 21 (human)		0.021	Glucose level	non-insulin-dependent	6	6911960	32911960	Human
1298458	BW9_H	Body weight QTL 9 (human)	2.7	0.0002	Body fat amount		6	6911960	32911960	Human
1298431	RA11_H	Rheumatoid arthritis QTL 11 (human)		0.0000024	Joint/bone inflammation	rheumatoid arthritis	6	19911883	40191709	Human
1358857	MULTSCL19_H	Multiple sclerosis susceptibility QTL 19 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
1643399	BMD5_H	Bone mineral density QTL 5 (human)	2.32	0.0005	Bone mineral density		6	6911960	32911960	Human

RH70224

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	29,454,424 - 29,454,544	UniSTS	GRCh37
Build 36	6	29,562,403 - 29,562,523	RGD	NCBI36
Celera	6	31,060,468 - 31,060,588	RGD
Cytogenetic Map	6	p21	UniSTS
HuRef	6	29,261,582 - 29,261,702	UniSTS
GeneMap99-GB4 RH Map	6	108.65	UniSTS

UniSTS:480553

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	29,454,543 - 29,455,679	UniSTS	GRCh37
Celera	6	31,060,587 - 31,061,723	UniSTS
HuRef	6	29,261,701 - 29,262,837	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1030	1886	1907	1111	1583	541	974	315	488	170	1837	3182	3336	1	872	467	958	594	145


RefSeq Transcripts	NM_052967	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL035542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL645927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC095511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC101177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX000531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX247947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX927133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR388393	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S78653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000377127 ⟹ ENSP00000366331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	29,486,697 - 29,487,956 (-)	Ensembl

RefSeq Acc Id:

NM_052967 ⟹ NP_443199

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	29,486,697 - 29,487,956 (-)	NCBI
GRCh37	6	29,454,543 - 29,455,679 (-)	RGD
Build 36	6	29,562,522 - 29,563,658 (-)	NCBI Archive
Celera	6	31,060,587 - 31,061,723 (-)	RGD
HuRef	6	29,261,701 - 29,262,837 (-)	RGD
CHM1_1	6	29,456,662 - 29,457,798 (-)	NCBI
T2T-CHM13v2.0	6	29,361,354 - 29,362,613 (-)	NCBI

Sequence:

show sequence

ATGGACCACTGCTCCTGACTGTGATGTTGTGGCCCACTCAGGTCCCAGCACCCCATGGTCTGGGGGAAAATTTGCTGGTTCAGCCAGAGGGCTGGATGGACAGTGTTTGCTGAGTCACAGATATCTCT
CTCATGTAGCCTTTGTCTCCACAGTGGTGACCAGGAGGCACAGAACCCAAACCTGGTATCTCAGCTCTGTGGCGTCTTTCTTCAAAATGAGACGAATGAAACCATACATATGCAGATGAGCATGGCAG
TGGGACAGCAGGCCCTGCCCTTGAATATCATTGCCCCCAAGGCTGTGCTGGTCTCCCTCTGTGGGGTCTTATTGAATGGCACTGTCTTCTGGCTGCTTTGCTGTGGGGCCACGAATCCCTACATGGTA
TACATCCTCCACCTGGTCGCTGCTGACGTGATCTATCTTTGCTGCTCGGCAGTGGGGTTCTTACAGGTGACTCTGCTAACTTATCATGGAGTCGTGTTTTTTATCCCTGATTTCCTGGCCATATTGTC
TCCCTTCTCCTTTGAGGTGTGTCTCTGTCTCCTGGTGGCCATCAGCACAGAGCGGTGTGTGTGTGTCCTCTTCCCCATCTGGTACAGATGCCACCGCCCAAAATACACATCTAATGTTGTCTGCACCC
TCATCTGGGGCCTGCCTTTTTGCATCAACATAGTAAAATCACTTTTCCTAACTTACTGGAAACATGTAAAGGCATGTGTCATATTTCTAAAGCTTTCTGGGCTCTTCCATGCTATCCTTTCACTTGTG
ATGTGTGTGTCGAGTCTGACTCTACTCATTAGATTCCTGTGCTGCTCCCAGCAGCAAAAGGCCACCAGGGTCTATGCGGTGGTGCAGATCTCGGCCCCCATGTTCCTACTCTGGGCCCTACCCCTGAG
CGTGGCACCCCTCATAACAGATTTCAAAATGTTTGTCACCACCTCCTATTTAATTTCCTTGTTCCTCATTATAAACAGCAGCGCCAACCCTATCATTTATTTCTTTGTGGGGAGCCTCAGAAAGAAAA
GGCTGAAGGAATCTCTCAGAGTGATTCTCCAACGGGCGTTAGCAGATAAGCCAGAGGTGGGGAGGAACAAAAAGGCAGCTGGCATCGACCCAATGGAGCAACCACACTCTACTCAGCATGTGGAGAAC
CTTCTTCCCAGGGAGCACAGGGTCGATGTGGAAACATAATTTCCCACATCTGAGCTGGGGAATTGTACACATAGTAACCCAGCCTGTTCTGCATCATAAGGCTGCTGC

hide sequence


Protein RefSeqs	NP_443199	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB21255	(Get FASTA)	NCBI Sequence Viewer
	AAH69127	(Get FASTA)	NCBI Sequence Viewer
	AAH69345	(Get FASTA)	NCBI Sequence Viewer
	AAH95511	(Get FASTA)	NCBI Sequence Viewer
	AAI01177	(Get FASTA)	NCBI Sequence Viewer
	AAI01178	(Get FASTA)	NCBI Sequence Viewer
	AQY76920	(Get FASTA)	NCBI Sequence Viewer
	AQY76921	(Get FASTA)	NCBI Sequence Viewer
	AQY76922	(Get FASTA)	NCBI Sequence Viewer
	AQY76923	(Get FASTA)	NCBI Sequence Viewer
	CAB44503	(Get FASTA)	NCBI Sequence Viewer
	EAX03197	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000366331
	ENSP00000366331.3
	ENSP00000373041.2
	ENSP00000373139.2
	ENSP00000392071.2
	ENSP00000399042.2
	ENSP00000405030.2
	ENSP00000405164.2
	ENSP00000410649.2
GenBank Protein	P35410	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_443199 ⟸ NM_052967

- UniProtKB:

Q5SUN5 (UniProtKB/Swiss-Prot), P35410 (UniProtKB/Swiss-Prot), W8W3J1 (UniProtKB/TrEMBL), A0A1U9X807 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MVWGKICWFSQRAGWTVFAESQISLSCSLCLHSGDQEAQNPNLVSQLCGVFLQNETNETIHMQMSMAVGQQALPLNIIAPKAVLVSLCGVLLNGTVFWLLCCGATNPYMVYILHLVAADVIYLCCSAV
GFLQVTLLTYHGVVFFIPDFLAILSPFSFEVCLCLLVAISTERCVCVLFPIWYRCHRPKYTSNVVCTLIWGLPFCINIVKSLFLTYWKHVKACVIFLKLSGLFHAILSLVMCVSSLTLLIRFLCCSQQ
QKATRVYAVVQISAPMFLLWALPLSVAPLITDFKMFVTTSYLISLFLIINSSANPIIYFFVGSLRKKRLKESLRVILQRALADKPEVGRNKKAAGIDPMEQPHSTQHVENLLPREHRVDVET

hide sequence

Ensembl Acc Id:

ENSP00000366331 ⟸ ENST00000377127

Protein Domains

G-protein coupled receptors family 1 profile

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P35410-F1-model_v2	AlphaFold	P35410	1-378	view protein structure

Database	Acc Id	Source(s)
COSMIC	MAS1L	COSMIC
Ensembl Genes	ENSG00000204687	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000206470	UniProtKB/Swiss-Prot
	ENSG00000206515	UniProtKB/Swiss-Prot
	ENSG00000228377	UniProtKB/Swiss-Prot
	ENSG00000228515	UniProtKB/Swiss-Prot
	ENSG00000233141	UniProtKB/Swiss-Prot
	ENSG00000234954	UniProtKB/Swiss-Prot
	ENSG00000237284	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000377127	ENTREZGENE
	ENST00000377127.4	UniProtKB/Swiss-Prot
	ENST00000383549.3	UniProtKB/Swiss-Prot
	ENST00000383643.3	UniProtKB/Swiss-Prot
	ENST00000415802.3	UniProtKB/Swiss-Prot
	ENST00000418003.3	UniProtKB/Swiss-Prot
	ENST00000420035.3	UniProtKB/Swiss-Prot
	ENST00000449044.3	UniProtKB/Swiss-Prot
	ENST00000451019.3	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot
GTEx	ENSG00000204687	GTEx
	ENSG00000206470	GTEx
	ENSG00000206515	GTEx
	ENSG00000228377	GTEx
	ENSG00000228515	GTEx
	ENSG00000233141	GTEx
	ENSG00000234954	GTEx
	ENSG00000237284	GTEx
HGNC ID	HGNC:13961	ENTREZGENE
Human Proteome Map	MAS1L	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot
	MRGPCRFAMILY	UniProtKB/Swiss-Prot
KEGG Report	hsa:116511	UniProtKB/Swiss-Prot
NCBI Gene	116511	ENTREZGENE
OMIM	607235	OMIM
PANTHER	MAS-RELATED G-PROTEIN COUPLED RECEPTOR MRG-RELATED	UniProtKB/Swiss-Prot
	PTHR11334	UniProtKB/Swiss-Prot
PharmGKB	PA134912067	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot
	MRGPCRFAMILY	UniProtKB/Swiss-Prot
PROSITE	G_PROTEIN_RECEP_F1_1	UniProtKB/Swiss-Prot
	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot
UniProt	A0A1U9X807	ENTREZGENE, UniProtKB/TrEMBL
	MAS1L_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q502V9_HUMAN	UniProtKB/TrEMBL
	Q5SUN5	ENTREZGENE
	W8W3J1	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	Q5SUN5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-07-01	MAS1L	MAS1 proto-oncogene like, G protein-coupled receptor		MAS1 oncogene-like	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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