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Gene: MPEG1 (macrophage expressed 1) Homo sapiens

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Symbol:

MPEG1

Name:

macrophage expressed 1

RGD ID:

736355

HGNC Page

HGNC:29619

Description:

Enables wide pore channel activity. Involved in defense response to Gram-negative bacterium and defense response to Gram-positive bacterium. Located in cytoplasmic vesicle. Is active in phagolysosome membrane. Implicated in primary immunodeficiency disease.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

IMD77; likely ortholog of mouse macrophage expressed gene 1; macrophage expressed gene 1; macrophage gene 1 protein; macrophage-expressed gene 1 protein; MGC132657; MGC138435; Mpg-1; MPG1; MPS1; P-2; partial protein; perforin 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

AP002358.2

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	11	59,208,510 - 59,212,927 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	59,208,510 - 59,212,927 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	58,975,983 - 58,980,400 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	58,732,559 - 58,737,070 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	56,335,080 - 56,339,591 (-)	NCBI		Celera
Cytogenetic Map	11	q12.1	NCBI
HuRef	11	55,321,954 - 55,326,538 (-)	NCBI		HuRef
CHM1_1	11	58,841,473 - 58,846,067 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	59,157,683 - 59,162,100 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Experimental Liver Neoplasms (EXP)

Immunodeficiency 77 (IAGP)

intellectual disability (IAGP)

leukocyte adhesion deficiency 3 (IAGP)

multicentric Castleman disease (IAGP)

primary ciliary dyskinesia 3 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,1-dichloroethene (ISO)

1,2-dichloroethane (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

17beta-estradiol 3-benzoate (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2,4-dinitrotoluene (ISO)

4,4'-sulfonyldiphenol (ISO)

acetamide (ISO)

acrolein (ISO)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

bezafibrate (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

calcitriol (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

cholesterol (ISO)

chrysene (ISO)

copper atom (ISO)

copper(0) (ISO)

cyclosporin A (EXP,ISO)

dextran sulfate (ISO)

Dibutyl phosphate (EXP)

diclofenac (ISO)

dioxygen (ISO)

diquat (ISO)

epoxiconazole (ISO)

ethanol (ISO)

flutamide (ISO)

folic acid (ISO)

furan (ISO)

gentamycin (ISO)

Heptachlor epoxide (ISO)

kainic acid (ISO)

lead diacetate (ISO)

lead(0) (EXP)

lipopolysaccharide (ISO)

morphine (ISO)

nickel atom (EXP)

ozone (EXP,ISO)

paracetamol (ISO)

pentachlorophenol (ISO)

perfluorooctanoic acid (EXP)

phenobarbital (ISO)

pirinixic acid (ISO)

propiconazole (ISO)

sodium arsenite (ISO)

sulforaphane (EXP)

tamoxifen (ISO)

testosterone (ISO)

tetrachloromethane (ISO)

tetraphene (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

triptonide (ISO)

trovafloxacin (ISO)

tungsten (ISO)

vancomycin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adaptive immune response (IEA)

antibacterial innate immune response (ISO,ISS)

antigen processing and presentation of exogenous peptide antigen (ISS)

antigen processing and presentation of exogenous peptide antigen via MHC class I (ISS)

defense response to bacterium (IBA,IMP)

defense response to Gram-negative bacterium (IMP,ISS)

defense response to Gram-positive bacterium (IDA,ISS)

dendritic cell antigen processing and presentation (ISS)

innate immune response (IEA)

transmembrane transport (IEA)

Cellular Component

cytoplasmic vesicle (IDA,IEA)

endolysosome (ISO)

extracellular region (IEA)

membrane (IEA)

phagocytic vesicle (ISS)

phagocytic vesicle membrane (IEA,ISS)

phagolysosome membrane (IDA)

Molecular Function

pore-forming activity (ISO)

wide pore channel activity (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Adult onset (IAGP)

Autosomal dominant inheritance (IAGP)

Bilateral sensorineural hearing impairment (IAGP)

Bronchiectasis (IAGP)

Cellulitis (IAGP)

Chronic pulmonary obstruction (IAGP)

Cutaneous abscess (IAGP)

Gastroparesis (IAGP)

Intellectual disability (IAGP)

Nontuberculous mycobacterial pulmonary infection (IAGP)

Recurrent tonsillitis (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7888681	PMID:12477932	PMID:14702039	PMID:16344560	PMID:21873635	PMID:23257510	PMID:23753625	PMID:23898208	PMID:25814554	PMID:26307549	PMID:26402460	PMID:26418746
PMID:28705375	PMID:30609079	PMID:31537793	PMID:32807901	PMID:32828820	PMID:33224153	PMID:33692780	PMID:34730110	PMID:37347855

Genomics

Comparative Map Data

MPEG1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	59,208,510 - 59,212,927 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	59,208,510 - 59,212,927 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	58,975,983 - 58,980,400 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	58,732,559 - 58,737,070 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	56,335,080 - 56,339,591 (-)	NCBI		Celera
Cytogenetic Map	11	q12.1	NCBI
HuRef	11	55,321,954 - 55,326,538 (-)	NCBI		HuRef
CHM1_1	11	58,841,473 - 58,846,067 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	59,157,683 - 59,162,100 (-)	NCBI		T2T-CHM13v2.0

Mpeg1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	12,438,134 - 12,442,649 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	12,438,143 - 12,442,649 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	12,460,770 - 12,465,285 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	12,460,779 - 12,465,283 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	12,535,269 - 12,539,775 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	12,527,824 - 12,532,330 (+)	NCBI		MGSCv36	mm8
Celera	19	13,124,779 - 13,129,283 (+)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	8.72	NCBI

Mpeg1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	218,876,848 - 218,881,364 (+)	NCBI		GRCr8
mRatBN7.2	1	209,452,176 - 209,456,692 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	209,452,133 - 209,458,855 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	217,826,816 - 217,831,286 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	224,758,435 - 224,762,905 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	217,581,271 - 217,585,741 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	228,724,559 - 228,729,054 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	228,724,900 - 228,727,160 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	235,886,584 - 235,891,070 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	215,387,912 - 215,390,172 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	215,546,341 - 215,548,602 (+)	NCBI
Celera	1	206,869,012 - 206,873,482 (+)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Mpeg1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955511	3,785,019 - 3,787,154 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955511	3,783,200 - 3,787,300 (-)	NCBI	ChiLan1.0	ChiLan1.0

MPEG1
(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	9	60,330,295 - 60,335,842 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	61,373,648 - 61,377,986 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	54,425,904 - 54,442,631 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	57,877,944 - 57,882,409 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	57,880,109 - 57,882,259 (-)	Ensembl	panpan1.1		panPan2

MPEG1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	37,530,895 - 37,535,334 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	37,531,032 - 37,533,179 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	37,065,693 - 37,070,114 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	38,181,524 - 38,185,954 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	18	37,780,626 - 37,785,058 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	37,349,846 - 37,354,264 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	37,973,828 - 37,978,258 (+)	NCBI		UU_Cfam_GSD_1.0

Mpeg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	13,306,779 - 13,319,480 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936581	3,421,256 - 3,431,706 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936581	3,428,515 - 3,436,877 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MPEG1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	12,194,327 - 12,198,351 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	12,194,303 - 12,196,594 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	11,807,301 - 11,809,592 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Mpeg1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624864	1,470,887 - 1,473,046 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624864	1,470,862 - 1,474,957 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MPEG1
73 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_001039396.1(MPEG1):c.2052G>A (p.Lys684=)	single nucleotide variant	Malignant melanoma [RCV000062296]	Chr11:59210814 [GRCh38] Chr11:58978287 [GRCh37] Chr11:58734863 [NCBI36] Chr11:11q12.1	not provided
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001039396.2(MPEG1):c.148G>C (p.Gly50Arg)	single nucleotide variant	not specified [RCV004300680]	Chr11:59212718 [GRCh38] Chr11:58980191 [GRCh37] Chr11:11q12.1	uncertain significance
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	copy number gain	not provided [RCV000683362]	Chr11:58935215..62177656 [GRCh37] Chr11:11q12.1-12.3	likely pathogenic
GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	copy number gain	not provided [RCV000683370]	Chr11:49313405..59008426 [GRCh37] Chr11:11p11.12-q12.1	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q12.1(chr11:58846985-59065644)x3	copy number gain	not provided [RCV000750066]	Chr11:58846985..59065644 [GRCh37] Chr11:11q12.1	benign
NM_001039396.2(MPEG1):c.705C>T (p.Ala235=)	single nucleotide variant	not provided [RCV000967205]	Chr11:59212161 [GRCh38] Chr11:58979634 [GRCh37] Chr11:11q12.1	benign
NM_001039396.2(MPEG1):c.529G>A (p.Asp177Asn)	single nucleotide variant	not provided [RCV000901109]	Chr11:59212337 [GRCh38] Chr11:58979810 [GRCh37] Chr11:11q12.1	likely benign
NM_001039396.2(MPEG1):c.545T>A (p.Leu182Gln)	single nucleotide variant	not specified [RCV004284509]	Chr11:59212321 [GRCh38] Chr11:58979794 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.661C>A (p.Leu221Ile)	single nucleotide variant	Castleman-Kojima disease [RCV000824696]	Chr11:59212205 [GRCh38] Chr11:58979678 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.413C>A (p.Thr138Asn)	single nucleotide variant	not specified [RCV004308347]	Chr11:59212453 [GRCh38] Chr11:58979926 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1558T>C (p.Leu520=)	single nucleotide variant	not provided [RCV000909743]	Chr11:59211308 [GRCh38] Chr11:58978781 [GRCh37] Chr11:11q12.1	benign
NM_001039396.2(MPEG1):c.1401C>T (p.Ala467=)	single nucleotide variant	not provided [RCV000889668]	Chr11:59211465 [GRCh38] Chr11:58978938 [GRCh37] Chr11:11q12.1	benign
NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser)	single nucleotide variant	Primary ciliary dyskinesia 3 [RCV003234813]	Chr11:59211893 [GRCh38] Chr11:58979366 [GRCh37] Chr11:11q12.1	pathogenic
NM_001039396.2(MPEG1):c.1290C>A (p.Tyr430Ter)	single nucleotide variant	Immunodeficiency 77 [RCV001338479]\|MPEG1-related immunodeficiency [RCV001255987]	Chr11:59211576 [GRCh38] Chr11:58979049 [GRCh37] Chr11:11q12.1	pathogenic\|uncertain significance
GRCh37/hg19 11q12.1(chr11:58602498-59091934)x3	copy number gain	not provided [RCV001260128]	Chr11:58602498..59091934 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala)	single nucleotide variant	Immunodeficiency 77 [RCV001338472]\|not provided [RCV003393984]	Chr11:59212649 [GRCh38] Chr11:58980122 [GRCh37] Chr11:11q12.1	pathogenic\|likely benign
NM_001039396.2(MPEG1):c.1192C>T (p.Gln398Ter)	single nucleotide variant	Immunodeficiency 77 [RCV001338474]	Chr11:59211674 [GRCh38] Chr11:58979147 [GRCh37] Chr11:11q12.1	pathogenic
NM_001039396.2(MPEG1):c.1213C>A (p.Pro405Thr)	single nucleotide variant	Immunodeficiency 77 [RCV001338476]\|not provided [RCV004570809]	Chr11:59211653 [GRCh38] Chr11:58979126 [GRCh37] Chr11:11q12.1	pathogenic\|likely benign
NC_000011.9:g.(?_58916346)_(64972349_?)dup	duplication	Leukocyte adhesion deficiency 3 [RCV003113394]\|not provided [RCV003113393]	Chr11:58916346..64972349 [GRCh37] Chr11:11q12.1-13.1	uncertain significance\|no classifications from unflagged records
NM_001039396.2(MPEG1):c.445C>T (p.Arg149Ter)	single nucleotide variant	Immunodeficiency 77 [RCV002272000]	Chr11:59212421 [GRCh38] Chr11:58979894 [GRCh37] Chr11:11q12.1	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	copy number gain	See cases [RCV002286338]	Chr11:51581311..54891247 [GRCh37] Chr11:11p11.2-q12.2	pathogenic
NM_001039396.2(MPEG1):c.1009G>A (p.Ala337Thr)	single nucleotide variant	not specified [RCV004321569]	Chr11:59211857 [GRCh38] Chr11:58979330 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1464A>G (p.Ile488Met)	single nucleotide variant	not specified [RCV004316390]	Chr11:59211402 [GRCh38] Chr11:58978875 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1796C>A (p.Pro599Gln)	single nucleotide variant	not specified [RCV004100378]	Chr11:59211070 [GRCh38] Chr11:58978543 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1838C>T (p.Thr613Ile)	single nucleotide variant	not specified [RCV004154041]	Chr11:59211028 [GRCh38] Chr11:58978501 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1004A>C (p.Glu335Ala)	single nucleotide variant	not specified [RCV004244119]	Chr11:59211862 [GRCh38] Chr11:58979335 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1693C>T (p.Pro565Ser)	single nucleotide variant	not specified [RCV004130988]	Chr11:59211173 [GRCh38] Chr11:58978646 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1193A>C (p.Gln398Pro)	single nucleotide variant	not specified [RCV004128549]	Chr11:59211673 [GRCh38] Chr11:58979146 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.2110G>A (p.Gly704Arg)	single nucleotide variant	not specified [RCV004154241]	Chr11:59210756 [GRCh38] Chr11:58978229 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.164G>A (p.Arg55Gln)	single nucleotide variant	not specified [RCV004222847]	Chr11:59212702 [GRCh38] Chr11:58980175 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.464T>C (p.Leu155Pro)	single nucleotide variant	not specified [RCV004158722]	Chr11:59212402 [GRCh38] Chr11:58979875 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1769C>A (p.Pro590His)	single nucleotide variant	not specified [RCV004230074]	Chr11:59211097 [GRCh38] Chr11:58978570 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.529G>C (p.Asp177His)	single nucleotide variant	not specified [RCV004133450]	Chr11:59212337 [GRCh38] Chr11:58979810 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1985T>G (p.Val662Gly)	single nucleotide variant	not specified [RCV004131516]	Chr11:59210881 [GRCh38] Chr11:58978354 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1792C>T (p.Arg598Trp)	single nucleotide variant	not specified [RCV004080834]	Chr11:59211074 [GRCh38] Chr11:58978547 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1342G>A (p.Val448Met)	single nucleotide variant	not specified [RCV004185914]	Chr11:59211524 [GRCh38] Chr11:58978997 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1594T>C (p.Phe532Leu)	single nucleotide variant	not specified [RCV004163093]	Chr11:59211272 [GRCh38] Chr11:58978745 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1460G>A (p.Ser487Asn)	single nucleotide variant	not specified [RCV004138549]	Chr11:59211406 [GRCh38] Chr11:58978879 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.448G>A (p.Val150Ile)	single nucleotide variant	not specified [RCV004097722]	Chr11:59212418 [GRCh38] Chr11:58979891 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.379G>A (p.Gly127Ser)	single nucleotide variant	not specified [RCV004078206]	Chr11:59212487 [GRCh38] Chr11:58979960 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.2038C>T (p.Arg680Trp)	single nucleotide variant	not specified [RCV004084305]	Chr11:59210828 [GRCh38] Chr11:58978301 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1904C>T (p.Pro635Leu)	single nucleotide variant	not specified [RCV004131636]	Chr11:59210962 [GRCh38] Chr11:58978435 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1919G>C (p.Arg640Thr)	single nucleotide variant	not specified [RCV004276362]	Chr11:59210947 [GRCh38] Chr11:58978420 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1373C>G (p.Ala458Gly)	single nucleotide variant	not specified [RCV004276343]	Chr11:59211493 [GRCh38] Chr11:58978966 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1613A>G (p.Asn538Ser)	single nucleotide variant	not specified [RCV004272463]	Chr11:59211253 [GRCh38] Chr11:58978726 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.646A>C (p.Ile216Leu)	single nucleotide variant	not specified [RCV004259701]	Chr11:59212220 [GRCh38] Chr11:58979693 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1865T>C (p.Ile622Thr)	single nucleotide variant	Immunodeficiency 77 [RCV003142313]	Chr11:59211001 [GRCh38] Chr11:58978474 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.746A>G (p.Asn249Ser)	single nucleotide variant	Immunodeficiency 77 [RCV003225792]	Chr11:59212120 [GRCh38] Chr11:58979593 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.355C>T (p.Leu119Phe)	single nucleotide variant	not specified [RCV004307199]	Chr11:59212511 [GRCh38] Chr11:58979984 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.388del (p.Ser130fs)	deletion	not provided [RCV003322111]	Chr11:59212478 [GRCh38] Chr11:58979951 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1474A>G (p.Thr492Ala)	single nucleotide variant	not specified [RCV004363303]	Chr11:59211392 [GRCh38] Chr11:58978865 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.671C>T (p.Ser224Phe)	single nucleotide variant	not provided [RCV003395813]	Chr11:59212195 [GRCh38] Chr11:58979668 [GRCh37] Chr11:11q12.1	likely benign
NM_001039396.2(MPEG1):c.508G>A (p.Gly170Ser)	single nucleotide variant	not specified [RCV004356213]	Chr11:59212358 [GRCh38] Chr11:58979831 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.357C>G (p.Leu119=)	single nucleotide variant	not provided [RCV003390061]	Chr11:59212509 [GRCh38] Chr11:58979982 [GRCh37] Chr11:11q12.1	likely benign
NM_001039396.2(MPEG1):c.1339A>T (p.Thr447Ser)	single nucleotide variant	not provided [RCV003395812]	Chr11:59211527 [GRCh38] Chr11:58979000 [GRCh37] Chr11:11q12.1	likely benign
NM_001039396.2(MPEG1):c.775C>G (p.Gln259Glu)	single nucleotide variant	MPEG1-related disorder [RCV003404270]	Chr11:59212091 [GRCh38] Chr11:58979564 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1574C>T (p.Ala525Val)	single nucleotide variant	Immunodeficiency 77 [RCV003493079]	Chr11:59211292 [GRCh38] Chr11:58978765 [GRCh37] Chr11:11q12.1	uncertain significance
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	copy number gain	not specified [RCV003986918]	Chr11:50398499..63924462 [GRCh37] Chr11:11p11.12-q13.1	likely pathogenic
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	copy number gain	not specified [RCV003986944]	Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3	likely pathogenic
NM_001039396.2(MPEG1):c.1547A>T (p.Gln516Leu)	single nucleotide variant	not specified [RCV004491003]	Chr11:59211319 [GRCh38] Chr11:58978792 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1655C>A (p.Pro552Gln)	single nucleotide variant	not specified [RCV004491005]	Chr11:59211211 [GRCh38] Chr11:58978684 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.361C>T (p.Leu121Phe)	single nucleotide variant	not specified [RCV004491036]	Chr11:59212505 [GRCh38] Chr11:58979978 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1078T>A (p.Phe360Ile)	single nucleotide variant	Immunodeficiency 77 [RCV003989347]	Chr11:59211788 [GRCh38] Chr11:58979261 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.577C>G (p.Leu193Val)	single nucleotide variant	not specified [RCV004491058]	Chr11:59212289 [GRCh38] Chr11:58979762 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.650A>G (p.Gln217Arg)	single nucleotide variant	not specified [RCV004491065]	Chr11:59212216 [GRCh38] Chr11:58979689 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1156A>G (p.Thr386Ala)	single nucleotide variant	not specified [RCV004490992]	Chr11:59211710 [GRCh38] Chr11:58979183 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.130G>C (p.Glu44Gln)	single nucleotide variant	not specified [RCV004490994]	Chr11:59212736 [GRCh38] Chr11:58980209 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1911G>T (p.Glu637Asp)	single nucleotide variant	not specified [RCV004491023]	Chr11:59210955 [GRCh38] Chr11:58978428 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.376A>G (p.Asn126Asp)	single nucleotide variant	not specified [RCV004491039]	Chr11:59212490 [GRCh38] Chr11:58979963 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.805A>G (p.Asn269Asp)	single nucleotide variant	not specified [RCV004491070]	Chr11:59212061 [GRCh38] Chr11:58979534 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.491C>T (p.Thr164Ile)	single nucleotide variant	MPEG1-related disorder [RCV003911704]	Chr11:59212375 [GRCh38] Chr11:58979848 [GRCh37] Chr11:11q12.1	likely benign
NM_001039396.2(MPEG1):c.1732G>A (p.Val578Ile)	single nucleotide variant	not specified [RCV004491008]	Chr11:59211134 [GRCh38] Chr11:58978607 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.719C>T (p.Ala240Val)	single nucleotide variant	not specified [RCV004491067]	Chr11:59212147 [GRCh38] Chr11:58979620 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.623G>A (p.Ser208Asn)	single nucleotide variant	Immunodeficiency 77 [RCV003990541]	Chr11:59212243 [GRCh38] Chr11:58979716 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.367T>C (p.Ser123Pro)	single nucleotide variant	not specified [RCV004643411]	Chr11:59212499 [GRCh38] Chr11:58979972 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.94C>A (p.Gln32Lys)	single nucleotide variant	not specified [RCV004629078]	Chr11:59212772 [GRCh38] Chr11:58980245 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.766T>C (p.Tyr256His)	single nucleotide variant	not specified [RCV004629079]	Chr11:59212100 [GRCh38] Chr11:58979573 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.560C>T (p.Thr187Met)	single nucleotide variant	not specified [RCV004629080]	Chr11:59212306 [GRCh38] Chr11:58979779 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.697C>T (p.Arg233Cys)	single nucleotide variant	not specified [RCV004643414]	Chr11:59212169 [GRCh38] Chr11:58979642 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1295_1296del (p.His432fs)	deletion	Immunodeficiency 77 [RCV004595002]	Chr11:59211570..59211571 [GRCh38] Chr11:58979043..58979044 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.188T>C (p.Met63Thr)	single nucleotide variant	not specified [RCV004643412]	Chr11:59212678 [GRCh38] Chr11:58980151 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.328A>G (p.Ser110Gly)	single nucleotide variant	not specified [RCV004643410]	Chr11:59212538 [GRCh38] Chr11:58980011 [GRCh37] Chr11:11q12.1	uncertain significance
NM_001039396.2(MPEG1):c.1531A>C (p.Lys511Gln)	single nucleotide variant	not specified [RCV004643413]	Chr11:59211335 [GRCh38] Chr11:58978808 [GRCh37] Chr11:11q12.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	794
Count of miRNA genes:	558
Interacting mature miRNAs:	613
Transcripts:	ENST00000361050
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.

Markers in Region

RH16197

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	59,052,718 - 59,052,869	UniSTS	GRCh37
GRCh37	11	58,976,120 - 58,976,271	UniSTS	GRCh37
Build 36	11	58,732,696 - 58,732,847	RGD	NCBI36
Celera	11	56,414,019 - 56,414,170	UniSTS
Celera	11	56,335,217 - 56,335,368	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,322,091 - 55,322,242	UniSTS
HuRef	11	55,400,272 - 55,400,423	UniSTS
GeneMap99-GB4 RH Map	11	221.63	UniSTS

D11S4376

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	58,976,661 - 58,976,775	UniSTS	GRCh37
Build 36	11	58,733,237 - 58,733,351	RGD	NCBI36
Celera	11	56,335,758 - 56,335,872	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,322,632 - 55,322,746	UniSTS
Whitehead-YAC Contig Map	11		UniSTS

SHGC-34178

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	58,975,919 - 58,976,050	UniSTS	GRCh37
Build 36	11	58,732,495 - 58,732,626	RGD	NCBI36
Celera	11	56,335,016 - 56,335,147	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,321,890 - 55,322,021	UniSTS
Stanford-G3 RH Map	11	2524.0	UniSTS
GeneMap99-GB4 RH Map	11	219.45	UniSTS
Whitehead-RH Map	11	284.3	UniSTS
NCBI RH Map	11	532.2	UniSTS
GeneMap99-G3 RH Map	11	2524.0	UniSTS

SHGC-172487

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	58,977,692 - 58,978,039	UniSTS	GRCh37
Build 36	11	58,734,268 - 58,734,615	RGD	NCBI36
Celera	11	56,336,789 - 56,337,136	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,323,736 - 55,324,083	UniSTS
TNG Radiation Hybrid Map	11	26040.0	UniSTS

STS-T98251

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	59,052,964 - 59,053,098	UniSTS	GRCh37
GRCh37	11	58,976,366 - 58,976,505	UniSTS	GRCh37
Build 36	11	58,732,942 - 58,733,081	RGD	NCBI36
Celera	11	56,414,265 - 56,414,399	UniSTS
Celera	11	56,335,463 - 56,335,602	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,322,337 - 55,322,476	UniSTS
HuRef	11	55,400,518 - 55,400,652	UniSTS
GeneMap99-GB4 RH Map	11	221.63	UniSTS

RH17632

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	58,979,934 - 58,980,192	UniSTS	GRCh37
Build 36	11	58,736,510 - 58,736,768	RGD	NCBI36
Celera	11	56,339,031 - 56,339,289	RGD
Cytogenetic Map	11	q12.1	UniSTS
HuRef	11	55,325,978 - 55,326,236	UniSTS
GeneMap99-GB4 RH Map	11	220.88	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

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	2334	2788	2251	4670	1696	2113	4	606	1855	443	2032	7065	6356	6	3654	1	806	1652	1405	166	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001039396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK024358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097881	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP002358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW205154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC104997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA946058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L20314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000361050 ⟹ ENSP00000354335

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	59,208,510 - 59,212,927 (-)	Ensembl

RefSeq Acc Id:

NM_001039396 ⟹ NP_001034485

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	59,208,510 - 59,212,927 (-)	NCBI
GRCh37	11	58,975,983 - 58,980,494 (-)	RGD
Build 36	11	58,732,559 - 58,737,070 (-)	NCBI Archive
Celera	11	56,335,080 - 56,339,591 (-)	RGD
HuRef	11	55,321,954 - 55,326,538 (-)	RGD
CHM1_1	11	58,841,473 - 58,846,067 (-)	NCBI
T2T-CHM13v2.0	11	59,157,683 - 59,162,100 (-)	NCBI

Sequence:

show sequence

AGTTTGCCCAAAGCTTGCTGGCCGCTGTGTAGGGCTGGTGAGTGGCTGGGGCTGTCTGAGCCAT
GAACAACTTCAGGGCCACCATCCTCTTCTGGGCAGCGGCAGCATGGGCTAAATCAGGCAAGCCT
TCGGGAGAGATGGACGAAGTTGGAGTTCAAAAATGCAAGAATGCCTTGAAACTACCTGTCCTGG
AAGTCCTACCTGGAGGGGGCTGGGACAATCTGCGGAATGTGGACATGGGACGAGTTATGGAATT
GACTTACTCCAACTGCAGGACAACAGAGGATGGACAGTATATCATCCCTGATGAAATCTTCACC
ATTCCCCAGAAACAGAGCAACCTGGAGATGAACTCAGAAATCCTGGAATCCTGGGCAAATTACC
AGAGTAGCACCTCCTACTCCATCAACACAGAACTCTCTCTTTTTTCCAAAGTCAATGGCAAGTT
TTCCACTGAGTTCCAGAGGATGAAGACCCTCCAAGTGAAGGACCAAGCTATAACTACCCGAGTT
CAGGTAAGAAACCTCGTCTACACAGTCAAAATCAACCCAACTTTAGAGCTAAGCTCAGGTTTTA
GGAAGGAACTCCTTGACATCTCTGACCGTCTAGAGAACAACCAGACGAGGATGGCCACCTACCT
GGCAGAACTCCTGGTGCTCAACTATGGCACCCACGTCACCACCAGTGTCGACGCTGGGGCTGCT
CTTATTCAGGAGGACCACCTCAGGGCCTCCTTCCTCCAAGACAGCCAGAGCAGTCGTAGTGCCG
TGACCGCCTCTGCTGGACTTGCCTTTCAAAACACCGTGAACTTCAAATTTGAGGAAAACTATAC
CTCGCAGAATGTCCTCACCAAGAGCTACCTCTCAAACCGAACCAACTCCAGGGTGCAGAGCATT
GGAGGGGTTCCTTTTTACCCAGGCATCACCCTCCAGGCCTGGCAGCAGGGTATCACCAACCACC
TGGTGGCCATCGACCGCTCTGGCCTGCCGCTGCATTTCTTCATCAACCCCAACATGCTACCTGA
CTTGCCAGGCCCCCTGGTGAAGAAGGTGTCAAAGACAGTGGAAACTGCTGTGAAGCGCTATTAT
ACATTCAACACCTACCCTGGCTGCACAGATCTCAATTCTCCCAACTTCAATTTTCAGGCCAACA
CGGATGATGGCTCCTGCGAGGGGAAAATGACCAACTTCTCTTTCGGTGGGGTTTATCAGGAATG
CACTCAGCTCTCAGGGAATAGGGATGTCCTCCTCTGCCAAAAGTTGGAGCAGAAGAATCCACTC
ACTGGTGATTTCTCCTGCCCCTCTGGCTACTCCCCGGTGCACCTGTTATCCCAGATCCACGAGG
AGGGTTACAACCACCTGGAGTGTCATCGAAAGTGCACTCTCCTCGTCTTCTGCAAGACCGTGTG
TGAAGATGTGTTCCAGGTGGCAAAAGCTGAATTTAGGGCTTTTTGGTGTGTGGCCAGCAGCCAA
GTACCTGAAAACTCAGGACTGCTTTTTGGGGGCCTCTTCAGCAGCAAGAGCATAAACCCCATGA
CAAATGCACAGTCATGCCCAGCCGGCTACTTTCCACTGAGACTCTTTGAAAACCTCAAGGTATG
TGTTTCTCAGGACTATGAGTTGGGAAGCAGGTTTGCGGTCCCCTTTGGCGGGTTCTTTAGCTGC
ACAGTTGGGAACCCCCTGGTAGATCCTGCTATATCCAGAGATTTAGGGGCACCGTCTCTGAAAA
AGTGCCCCGGGGGCTTCAGCCAGCACCCAGCCCTCATCAGCGATGGATGCCAAGTGTCCTATTG
CGTCAAATCCGGGCTCTTCACAGGAGGGTCCCTGCCCCCTGCCAGGCTCCCACCTTTCACCCGG
CCACCCCTCATGAGTCAGGCTGCCACCAATACTGTCATAGTGACCAATTCTGAGAATGCGAGAT
CCTGGATTAAAGACTCCCAGACCCACCAGTGGAGGCTGGGAGAACCGATAGAGCTGCGGAGGGC
CATGAATGTCATCCATGGGGATGGTGGTGGTCTGTCAGGAGGGGCTGCAGCTGGGGTCACAGTG
GGGGTCACCACCATTCTGGCTGTTGTTATCACCTTGGCCATCTACGGCACCCGGAAGTTCAAGA
AGAAAGCATATCAGGCAATTGAGGAAAGGCAGAGTTTGGTTCCAGGCACTGCAGCAACTGGAGA
CACCACTTACCAAGAGCAGGGGCAGAGTCCAGCTTAAATCTCTCCCCGAAAATGGTTTCTCTCA
TCTCCAGTGTGGTCATTGCTGACCACTCTGTTTTCCTAAGCATTGAAATGGCAAGTGCAACCAA
AAGTAGGTATATTCGTGACTTCTTGTTTAGGTCTCTGGGCCAGGAAATTCATACTGTTACATGG
ATAAGGTTGGGATTGGGGAGAGGGAACAGTTGGGACTAGAAGCAAAAGTGATTCTGGGACTAAA
ATAGGAAGCAGATGTCCTTTCCCAATGTGTGTTGCTGTCTTCACCTGAATGCATTTGTGTAAAA
ATAGCGGAGGGACAATGTGAACATTTGTATTTGGAAGCTATGAATTTACTCTGAAGTTTGCAGT
TGTTTCCAATTTGTGAGCTCTAAGAGTTTCTGCCTGTAAGAACTACTCTCCTTTTATTTTGATT
TTTAAAAACCTGTCTGAATTTCACACTCTTAGAGCCTGGAAGAGCCCTGAAAAGACACAAGTCT
TGCCTGGCTACTGCTTTTTAACTTTGAGGGCTCTATGTTGACAGACTGTTATCTCCTCTGGGTG
ACCTCAAACATCTGAAAAGAAAGATGTTGCCTGTGCCAATTCCACTTTTTCCAGCTGCCCCTTG
ATGAACACTCCCTTATACCAGACCACTCTTGGACTTCTGACTGGTGTCATCAAGTCCTCAGAAA
ATATTTTAAGTTATTTTAAGTTATTAAGGAAGGGATGATTTGGAGACAAGGAGTAATGAAAGAT
GGGTAAAAACTGGAAAAGATTCTGGTGCTAAGTACTACCCCTTCATCTTCCATGGATGGTCATT
ACCTTTCCTGTCCTCCTGTTATATGAACACACACACACACACACACACACACACACACACACAC
GCACACACATACCACATTTCAATAAGTCTTCATTGTTCTGGGTCCTTACCTTTCCTGTCCTCCT
GTTATATGAACACACACACACACACACACACACACACACACGCACACCACATTTCAATGTCTGC
ATGGTTCTGGGGGTAACAAAGGCAAGAAGTTAAAGTAAGACCACATTTGAGTATTACTTACTCT
GTAGAATCAAAACAGAGTAGTTAACACCAATTATGCAAACTACTTTTTTTTCCAGCAGAAAGGG
AGCTGACATGATCAAATCCATGTTTTCAAATGAACTGAAAAAGGCATCCAGCACCACTTATAAC
ACATTTATTTCAGTTCCAGGCTGACAGCCCTGGGGCATCTAGCAGGATGCATAATTGTCATCTG
GTGAGAGTTGGGACTTTGCTCAATTTTAATACCAATCTCTCCTGATTGTAATTACCTCCACTAC
TTTCATGATCCCCCTACAATATTTTTTTAAATGATATATTTATTCACTGAATCAAATGTCATTA
ATGAGTTATCTTCTGTGGAGGATGACTGTTCTCTTTGTTAATGTTCACAATCAAGATCTTGGGC
TGAGAAGAGGCCCTTCACCCAAGGAGTTTGAAGTATCACAGTGTGTGGGAAGGTGGGAACCAGG
ATACCCATTCATTTCCAACCGAGACACAGAGAAGTGAGTCACAGAATTTGAGCCCGCTCTCTTG
ACTGCCCAGCCAGAGACACTGATTTCTGTAACCTCTTCACTTGATCCTGCCTCTTAAGCATTAA
AACATTCTCCTAAACCTCTGAGTGTTTTGTGGGTTCTGGGTGTTTTGTACATTTTAGCCAAGCT
AACCACTTGTCTGCAAGTACTGACTTTCCTATGAATTCTTTGAAGATTATTGAGTCAGAAAGGA
AAAATATAGCCCCAAATTCCCAGGCTTTTAATGCATTACATTAACTGCCTATTGAAATGAGAAG
TTCTTCACAAACTTGTATACCCACTAACAAGATTGCACATAAACATGCATTAAAGTATATACTA
AGAAACCCTCTGTCCAACGGCTCATGCATATGAAGTCCGAACATGGGAGTTTGCCAATTGCATT
CATCAAGTCGTTTTGCGGAGTCAGATCCCTGATGGAAGAGCTCACAGGCTCTGCCTTCCAAGTC
CTGGGTTCCTAACTGGTGACCTTAGCCTGGGGTCTGTGGGGAGACCAACCCTGGCTTCCAAGAA
AACCACATTCCATGGACTATCAGAAATAGACACAGATTTGGGTGACAAAGCTGGCTCTGTATTT
GCATTTTATTTTTGTGTTCTTGTCAGTTTGGGAATGATTAATATTAAACATTTATTTGAGAAAC
AA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001034485	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36324	(Get FASTA)	NCBI Sequence Viewer
	AAI04998	(Get FASTA)	NCBI Sequence Viewer
	AAI12231	(Get FASTA)	NCBI Sequence Viewer
	BAB84992	(Get FASTA)	NCBI Sequence Viewer
	BAG53544	(Get FASTA)	NCBI Sequence Viewer
	EAW73839	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000354335
	ENSP00000354335.3
GenBank Protein	Q2M385	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001034485 ⟸ NM_001039396
- Peptide Label:	precursor
- UniProtKB:	Q2M385 (UniProtKB/Swiss-Prot), Q2M1T6 (UniProtKB/Swiss-Prot), Q8TEF8 (UniProtKB/Swiss-Prot), B3KUT2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNNFRATILFWAAAAWAKSGKPSGEMDEVGVQKCKNALKLPVLEVLPGGGWDNLRNVDMGRVME LTYSNCRTTEDGQYIIPDEIFTIPQKQSNLEMNSEILESWANYQSSTSYSINTELSLFSKVNGK FSTEFQRMKTLQVKDQAITTRVQVRNLVYTVKINPTLELSSGFRKELLDISDRLENNQTRMATY LAELLVLNYGTHVTTSVDAGAALIQEDHLRASFLQDSQSSRSAVTASAGLAFQNTVNFKFEENY TSQNVLTKSYLSNRTNSRVQSIGGVPFYPGITLQAWQQGITNHLVAIDRSGLPLHFFINPNMLP DLPGPLVKKVSKTVETAVKRYYTFNTYPGCTDLNSPNFNFQANTDDGSCEGKMTNFSFGGVYQE CTQLSGNRDVLLCQKLEQKNPLTGDFSCPSGYSPVHLLSQIHEEGYNHLECHRKCTLLVFCKTV CEDVFQVAKAEFRAFWCVASSQVPENSGLLFGGLFSSKSINPMTNAQSCPAGYFPLRLFENLKV CVSQDYELGSRFAVPFGGFFSCTVGNPLVDPAISRDLGAPSLKKCPGGFSQHPALISDGCQVSY CVKSGLFTGGSLPPARLPPFTRPPLMSQAATNTVIVTNSENARSWIKDSQTHQWRLGEPIELRR AMNVIHGDGGGLSGGAAAGVTVGVTTILAVVITLAIYGTRKFKKKAYQAIEERQSLVPGTAATG DTTYQEQGQSPA hide sequence

Ensembl Acc Id:

ENSP00000354335 ⟸ ENST00000361050

Protein Domains

MACPF

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q2M385-F1-model_v2	AlphaFold	Q2M385	1-716	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29619	AgrOrtholog
COSMIC	MPEG1	COSMIC
Ensembl Genes	ENSG00000197629	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000361050	ENTREZGENE
	ENST00000361050.4	UniProtKB/Swiss-Prot
GTEx	ENSG00000197629	GTEx
HGNC ID	HGNC:29619	ENTREZGENE
Human Proteome Map	MPEG1	Human Proteome Map
InterPro	MACPF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MPEG1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:219972	UniProtKB/Swiss-Prot
NCBI Gene	219972	ENTREZGENE
OMIM	610390	OMIM
PANTHER	MACROPHAGE-EXPRESSED GENE 1 PROTEIN	UniProtKB/Swiss-Prot
	MACROPHAGE-EXPRESSED GENE 1 PROTEIN	UniProtKB/TrEMBL
	MACROPHAGE-EXPRESSED GENE 1 PROTEIN	UniProtKB/TrEMBL
	PTHR31463	UniProtKB/Swiss-Prot
Pfam	MACPF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA164723088	PharmGKB
PROSITE	MACPF_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	MACPF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B3KUT2	ENTREZGENE, UniProtKB/TrEMBL
	MPEG1_HUMAN	UniProtKB/Swiss-Prot
	Q2M1T6	ENTREZGENE
	Q2M385	ENTREZGENE
	Q8TEF8	ENTREZGENE
UniProt Secondary	Q2M1T6	UniProtKB/Swiss-Prot
	Q8TEF8	UniProtKB/Swiss-Prot

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

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

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

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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