PTPN1 (protein tyrosine phosphatase non-receptor type 1)

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Gene: PTPN1 (protein tyrosine phosphatase non-receptor type 1) Homo sapiens

Analyze

Symbol:

PTPN1

Name:

protein tyrosine phosphatase non-receptor type 1

RGD ID:

1343639

HGNC Page

HGNC

Description:

Enables protein tyrosine phosphatase activity; signaling receptor binding activity; and zinc ion binding activity. Involved in several processes, including positive regulation of receptor catabolic process; regulation of protein kinase activity; and regulation of signal transduction. Located in cytoplasmic side of endoplasmic reticulum membrane and early endosome. Part of protein-containing complex. Colocalizes with plasma membrane. Implicated in type 2 diabetes mellitus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

protein tyrosine phosphatase 1B; protein tyrosine phosphatase, placental; protein-tyrosine phosphatase 1B; PTP1B; tyrosine-protein phosphatase non-receptor type 1

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

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.p13 Ensembl	20	50,510,321 - 50,585,241 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	20	50,510,383 - 50,585,241 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	20	49,126,920 - 49,201,778 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	48,560,298 - 48,634,495 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	20	48,560,297 - 48,634,491	NCBI
Celera	20	45,831,156 - 45,905,376 (+)	NCBI
Cytogenetic Map	20	q13.13	NCBI
HuRef	20	45,875,585 - 45,950,061 (+)	NCBI		HuRef
CHM1_1	20	49,031,996 - 49,106,433 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

B-cell lymphoma (EXP)

Experimental Liver Cirrhosis (EXP)

Hodgkin's lymphoma (EXP)

hyperinsulinism (EXP)

hypertension (EXP)

Inflammation (EXP)

Insulin Resistance (EXP,IAGP)

Mediastinal Neoplasms (EXP)

obesity (EXP)

Rett syndrome (EXP)

type 2 diabetes mellitus (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

1,2-dimethylhydrazine (ISO)

1,2-naphthoquinone (EXP)

1,4-benzoquinone (EXP)

1,4-dithiothreitol (EXP,ISO)

1,4-naphthoquinone (EXP)

1-chloro-2,4-dinitrobenzene (EXP)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-methylcholine (EXP)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-chloropropane-1,2-diol (ISO)

3-isobutyl-1-methyl-7H-xanthine (ISO)

4-hydroxynon-2-enal (EXP)

4-hydroxyphenyl retinamide (ISO)

4-nitrophenyl phosphate (EXP)

9,10-phenanthroquinone (EXP)

acetamide (ISO)

acrolein (EXP)

ADP (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

ammonium chloride (ISO)

anthranilic acid (EXP)

antirheumatic drug (EXP)

aristolochic acid (EXP)

arsenous acid (EXP)

Bardoxolone methyl (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzoic acid (EXP)

bisphenol A (ISO)

calcitriol (EXP)

carbon nanotube (ISO)

chlordecone (ISO)

chloropicrin (EXP)

chromium atom (ISO)

copper atom (EXP)

copper(0) (EXP)

coumestrol (EXP)

Cryptotanshinone (EXP)

Cuprizon (ISO)

decabromodiphenyl ether (ISO)

dexamethasone (ISO)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

diclofenac (ISO)

Didymin (EXP)

dimethylarsinous acid (EXP)

disodium selenite (EXP,ISO)

elemental selenium (ISO)

ethanol (ISO)

flavonoids (ISO)

folic acid (ISO)

fucosterol (EXP)

genistein (ISO)

glycidol (ISO)

hexadecanoic acid (ISO)

hydrogen peroxide (ISO)

isoliquiritigenin (ISO)

ivermectin (EXP)

L-1,4-dithiothreitol (EXP,ISO)

lipopolysaccharide (ISO)

LY294002 (EXP)

metformin (EXP)

methylglyoxal (EXP)

methylmercury chloride (EXP,ISO)

morin (EXP)

N-acetyl-L-cysteine (EXP)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (EXP)

N-methyl-4-phenylpyridinium (EXP)

N-nitrosodiethylamine (ISO)

nitrofen (ISO)

paracetamol (ISO)

phenethyl caffeate (ISO)

pirinixic acid (ISO)

pyrithione (ISO)

resveratrol (EXP,ISO)

rotenone (EXP)

S-butyl-DL-homocysteine (S,R)-sulfoximine (ISO)

selenic acid (EXP,ISO)

selenium atom (ISO)

silicon dioxide (ISO)

sodium arsenite (ISO)

streptozocin (ISO)

tamoxifen (ISO)

tetrachloromethane (ISO)

tetrathiomolybdate(2-) (EXP)

thapsigargin (ISO)

thiazolidines (EXP)

triptonide (ISO)

tris(picolinato)chromium (ISO)

tunicamycin (EXP,ISO)

ursolic acid (EXP)

valproic acid (EXP,ISO)

vanadyl sulfate (EXP)

vinclozolin (ISO)

vorinostat (EXP)

zinc atom (EXP,ISO)

zinc sulfate (EXP)

zinc(0) (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin cytoskeleton reorganization (IMP)

cellular response to unfolded protein (TAS)

endoplasmic reticulum unfolded protein response (IDA)

growth hormone receptor signaling pathway via JAK-STAT (TAS)

insulin receptor signaling pathway (IEA,ISO)

IRE1-mediated unfolded protein response (ISS)

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (ISS)

negative regulation of ERK1 and ERK2 cascade (ISS)

negative regulation of insulin receptor signaling pathway (NAS)

negative regulation of MAP kinase activity (IMP)

negative regulation of PERK-mediated unfolded protein response (IDA)

negative regulation of signal transduction (TAS)

negative regulation of vascular endothelial growth factor receptor signaling pathway (ISS)

peptidyl-tyrosine dephosphorylation (IDA,IEA,IMP)

peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (ISS)

platelet-derived growth factor receptor-beta signaling pathway (IMP)

positive regulation of IRE1-mediated unfolded protein response (TAS)

positive regulation of JUN kinase activity (ISS)

positive regulation of protein tyrosine kinase activity (IDA)

positive regulation of receptor catabolic process (IMP)

protein dephosphorylation (IMP,ISO)

regulation of endocytosis (IDA)

regulation of hepatocyte growth factor receptor signaling pathway (IMP)

regulation of insulin receptor signaling pathway (ISO)

regulation of intracellular protein transport (IMP)

regulation of signal transduction (IMP)

regulation of type I interferon-mediated signaling pathway (TAS)

response to endoplasmic reticulum stress (ISO)

Cellular Component

cytoplasm (ISS)

cytoplasmic side of endoplasmic reticulum membrane (IDA)

cytoplasmic vesicle (ISO)

cytosol (ISO,TAS)

early endosome (IDA,ISS)

endoplasmic reticulum (IDA)

integral component of membrane (IEA)

mitochondrial crista (IEA,ISO)

mitochondrial matrix (IEA,ISO)

plasma membrane (IDA)

protein-containing complex (IDA)

sorting endosome (ISS)

Molecular Function

cadherin binding (HDA)

enzyme binding (IPI)

ephrin receptor binding (IPI)

insulin receptor binding (IEA,ISO)

protein binding (IPI)

protein kinase binding (IPI)

protein phosphatase 2A binding (IEA,ISO)

protein tyrosine phosphatase activity (IDA,IEA,ISO,TAS)

receptor tyrosine kinase binding (IPI)

RNA binding (HDA)

zinc ion binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

epidermal growth factor/neuregulin signaling pathway (EXP)

insulin signaling pathway (EXP,IEA,ISO,TAS)

insulin-like growth factor signaling pathway (EXP)

Jak-Stat signaling pathway (TAS)

leptin system pathway (IDA)

N-cadherin signaling pathway (EXP)

platelet-derived growth factor signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal dominant inheritance (IAGP)

Increased waist to hip ratio (IAGP)

Insulin resistance (IAGP)

Late onset (IAGP)

Type II diabetes mellitus (IAGP)

References

References - curated


1.	Ahmad F and Goldstein BJ, Biochim Biophys Acta. 1995 Apr 5;1248(1):57-69.
2.	Di Paola R, etal., Am J Hum Genet. 2002 Mar;70(3):806-12. Epub 2002 Feb 6.
3.	GOA_HUMAN data from the GO Consortium
4.	Hirata AE, etal., Life Sci. 2003 Aug 1;73(11):1369-81.
5.	Lund IK, etal., J Mol Endocrinol. 2005 Apr;34(2):339-51.
6.	OMIM Disease Annotation Pipeline
7.	Pipeline to import KEGG annotations from KEGG into RGD
8.	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	RGD automated import pipeline for gene-chemical interactions
11.	Valentino L and Pierre J, Biochem Pharmacol. 2006 Mar 14;71(6):713-21. Epub 2006 Jan 19.
12.	Youngren JF Cell Mol Life Sci. 2007 Apr;64(7-8):873-91.

Additional References at PubMed

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PMID:29278704	PMID:29390191	PMID:29395067	PMID:29509190	PMID:29568061	PMID:29604334	PMID:29743567	PMID:29769704	PMID:29877794	PMID:29928877	PMID:29955894	PMID:30018269
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PMID:31048362	PMID:31056421	PMID:31067491	PMID:31091453	PMID:31173266	PMID:31177093	PMID:31197039	PMID:31395821	PMID:31527250	PMID:31585087	PMID:31586073	PMID:31732153
PMID:31735331	PMID:31837707	PMID:31873221	PMID:31950832	PMID:31980649	PMID:32061178	PMID:32062451	PMID:32149426	PMID:32194132	PMID:32229687	PMID:32296183	PMID:32386183
PMID:32395869	PMID:32569626	PMID:32737198	PMID:32788342	PMID:32851074	PMID:32877691	PMID:32912968	PMID:32941674	PMID:33022573	PMID:33226137	PMID:33333224	PMID:33382412
PMID:33450156	PMID:33501502	PMID:33782381	PMID:33814511	PMID:33857515	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34208908	PMID:34299651	PMID:34638706

Genomics

Comparative Map Data

PTPN1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	20	50,510,321 - 50,585,241 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	20	50,510,383 - 50,585,241 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	20	49,126,920 - 49,201,778 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	48,560,298 - 48,634,495 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	20	48,560,297 - 48,634,491	NCBI
Celera	20	45,831,156 - 45,905,376 (+)	NCBI
Cytogenetic Map	20	q13.13	NCBI
HuRef	20	45,875,585 - 45,950,061 (+)	NCBI		HuRef
CHM1_1	20	49,031,996 - 49,106,433 (+)	NCBI		CHM1_1

Ptpn1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	167,772,670 - 167,821,305 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	2	167,773,977 - 167,821,305 (+)	Ensembl
GRCm38	2	167,930,750 - 167,979,385 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	167,932,057 - 167,979,385 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	167,757,827 - 167,804,885 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	2	167,623,579 - 167,668,124 (+)	NCBI			mm8
Celera	2	173,874,374 - 173,921,508 (+)	NCBI		Celera
Cytogenetic Map	2	H3	NCBI

Ptpn1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	3	156,638,811 - 156,687,503 (+)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	3	156,638,769 - 156,687,504 (+)	Ensembl
Rnor_6.0	3	164,665,462 - 164,711,936 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	164,665,532 - 164,711,848 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	170,816,897 - 170,866,071 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	159,070,473 - 159,116,792 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	3	158,976,466 - 159,025,198 (+)	NCBI
Celera	3	155,215,176 - 155,261,496 (+)	NCBI		Celera
Cytogenetic Map	3	q42	NCBI

Ptpn1
(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_004955445	7,754,319 - 7,819,275 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955445	7,754,313 - 7,819,229 (-)	NCBI	ChiLan1.0	ChiLan1.0

PTPN1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	20	47,983,098 - 48,057,421 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	47,983,098 - 48,057,421 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	20	46,854,918 - 46,929,509 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

PTPN1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	36,936,469 - 37,010,929 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	36,936,298 - 37,003,720 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	36,179,442 - 36,246,435 (+)	NCBI
ROS_Cfam_1.0	24	37,642,503 - 37,713,189 (+)	NCBI
UMICH_Zoey_3.1	24	36,882,533 - 36,949,558 (+)	NCBI
UNSW_CanFamBas_1.0	24	37,016,127 - 37,083,208 (+)	NCBI
UU_Cfam_GSD_1.0	24	37,560,457 - 37,627,492 (+)	NCBI

Ptpn1
(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_024408640	188,603,904 - 188,630,208 (-)	NCBI
SpeTri2.0	NW_004936514	4,065,455 - 4,083,847 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PTPN1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	52,017,104 - 52,086,736 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	52,017,100 - 52,086,747 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	58,450,256 - 58,474,772 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PTPN1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	13,385,681 - 13,459,180 (-)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	2	13,387,727 - 13,459,105 (-)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666050	61,816,170 - 61,890,307 (-)	NCBI	Vero_WHO_p1.0

Ptpn1
(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 1.0	NW_004624790	5,070,537 - 5,135,243 (-)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

AL034534

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	49,153,102 - 49,153,227	UniSTS	GRCh37
Build 36	20	48,586,509 - 48,586,634	RGD	NCBI36
Celera	20	45,857,387 - 45,857,512	RGD
Cytogenetic Map	20	q13.1-q13.2	UniSTS
HuRef	20	45,901,865 - 45,901,990	UniSTS

STS-M31724

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	49,199,241 - 49,199,485	UniSTS	GRCh37
Build 36	20	48,632,648 - 48,632,892	RGD	NCBI36
Celera	20	45,903,529 - 45,903,773	RGD
Cytogenetic Map	20	q13.1-q13.2	UniSTS
HuRef	20	45,948,003 - 45,948,247	UniSTS
GeneMap99-GB4 RH Map	20	304.23	UniSTS
NCBI RH Map	20	518.2	UniSTS

PMC117295P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	49,196,252 - 49,196,358	UniSTS	GRCh37
Build 36	20	48,629,659 - 48,629,765	RGD	NCBI36
Celera	20	45,900,540 - 45,900,646	RGD
Cytogenetic Map	20	q13.1-q13.2	UniSTS
HuRef	20	45,945,014 - 45,945,120	UniSTS

PMC117295P2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	49,196,274 - 49,196,358	UniSTS	GRCh37
Build 36	20	48,629,681 - 48,629,765	RGD	NCBI36
Celera	20	45,900,562 - 45,900,646	RGD
Cytogenetic Map	20	q13.1-q13.2	UniSTS
HuRef	20	45,945,036 - 45,945,120	UniSTS

PTPN1_1850

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	49,200,306 - 49,201,087	UniSTS	GRCh37
Build 36	20	48,633,713 - 48,634,494	RGD	NCBI36
Celera	20	45,904,594 - 45,905,375	RGD
HuRef	20	45,949,068 - 45,949,849	UniSTS

RH45266

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	49,198,470 - 49,198,597	UniSTS	GRCh37
Build 36	20	48,631,877 - 48,632,004	RGD	NCBI36
Celera	20	45,902,758 - 45,902,885	RGD
Cytogenetic Map	20	q13.1-q13.2	UniSTS
HuRef	20	45,947,232 - 45,947,359	UniSTS
GeneMap99-GB4 RH Map	20	305.19	UniSTS

RH11093

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	49,199,005 - 49,199,245	UniSTS	GRCh37
Build 36	20	48,632,412 - 48,632,652	RGD	NCBI36
Celera	20	45,903,293 - 45,903,533	RGD
Cytogenetic Map	20	q13.1-q13.2	UniSTS
HuRef	20	45,947,767 - 45,948,007	UniSTS
GeneMap99-GB4 RH Map	20	305.19	UniSTS

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR122	hsa-miR-122-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	22807119
MIR210	hsa-miR-210-3p	Mirtarbase	external_info	2DGE//immunoprecipitaion//Luciferase reporter assa	Functional MTI	19826008
MIR210	hsa-miR-210-3p	OncomiRDB	external_info	NA	NA	22962263

Predicted Target Of

	Summary Value
Count of predictions:	1268
Count of miRNA genes:	760
Interacting mature miRNAs:	858
Transcripts:	ENST00000371621, ENST00000541713
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2435

2820

1631

532

1918

373

4305

2027

2815

411

1459

1610

175

1204

2736

Low

171

170

919

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001278618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002827	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AH002942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI474453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290638	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL034429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU117677	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY029236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS569123	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB332370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC300354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HD122567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI639118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JA420824	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M31724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M33689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000371621 ⟹ ENSP00000360683

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	50,510,383 - 50,585,241 (+)	Ensembl

RefSeq Acc Id:

ENST00000541713 ⟹ ENSP00000437732

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	20	50,510,321 - 50,584,760 (+)	Ensembl

RefSeq Acc Id:

NM_001278618 ⟹ NP_001265547

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	50,510,383 - 50,585,241 (+)	NCBI
GRCh37	20	49,126,858 - 49,201,299 (+)	NCBI
HuRef	20	45,875,585 - 45,950,061 (+)	NCBI
CHM1_1	20	49,031,996 - 49,106,433 (+)	NCBI

Sequence:

show sequence

CCTTCTGCTTCAGGGGCGGAGCCCCTGGCAGGCGTGATGCGTAGTTCCGGCTGCCGGTTGACAT
GAAGAAGCAGCAGCGGCTAGGGCGGCGGTAGCTGCAGGGGTCGGGGATTGCAGCGGGCCTCGGG
GCTAAGAGCGCGACGCGGCCTAGAGCGGCAGACGGCGCAGTGGGCCGAGAAGGAGGCGCAGCAG
CCGCCCTGGCCCGTCATGGAGATGGAAAAGGAGTTCGAGCAGATCGACAAGTCCGGGAGCTGGG
CGGCCATTTACCAGTTGACCATAGTCGGATTAAACTACATCAAGAAGATAATGACTATATCAAC
GCTAGTTTGATAAAAATGGAAGAAGCCCAAAGGAGTTACATTCTTACCCAGGGCCCTTTGCCTA
ACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAA
CAGAGTGATGGAGAAAGGTTCGTTAAAATGCGCACAATACTGGCCACAAAAAGAAGAAAAAGAG
ATGATCTTTGAAGACACAAATTTGAAATTAACATTGATCTCTGAAGATATCAAGTCATATTATA
CAGTGCGACAGCTAGAATTGGAAAACCTTACAACCCAAGAAACTCGAGAGATCTTACATTTCCA
CTATACCACATGGCCTGACTTTGGAGTCCCTGAATCACCAGCCTCATTCTTGAACTTTCTTTTC
AAAGTCCGAGAGTCAGGGTCACTCAGCCCGGAGCACGGGCCCGTTGTGGTGCACTGCAGTGCAG
GCATCGGCAGGTCTGGAACCTTCTGTCTGGCTGATACCTGCCTCTTGCTGATGGACAAGAGGAA
AGACCCTTCTTCCGTTGATATCAAGAAAGTGCTGTTAGAAATGAGGAAGTTTCGGATGGGGCTG
ATCCAGACAGCCGACCAGCTGCGCTTCTCCTACCTGGCTGTGATCGAAGGTGCCAAATTCATCA
TGGGGGACTCTTCCGTGCAGGATCAGTGGAAGGAGCTTTCCCACGAGGACCTGGAGCCCCCACC
CGAGCATATCCCCCCACCTCCCCGGCCACCCAAACGAATCCTGGAGCCACACAATGGGAAATGC
AGGGAGTTCTTCCCAAATCACCAGTGGGTGAAGGAAGAGACCCAGGAGGATAAAGACTGCCCCA
TCAAGGAAGAAAAAGGAAGCCCCTTAAATGCCGCACCCTACGGCATCGAAAGCATGAGTCAAGA
CACTGAAGTTAGAAGTCGGGTCGTGGGGGGAAGTCTTCGAGGTGCCCAGGCTGCCTCCCCAGCC
AAAGGGGAGCCGTCACTGCCCGAGAAGGACGAGGACCATGCACTGAGTTACTGGAAGCCCTTCC
TGGTCAACATGTGCGTGGCTACGGTCCTCACGGCCGGCGCTTACCTCTGCTACAGGTTCCTGTT
CAACAGCAACACATAGCCTGACCCTCCTCCACTCCACCTCCACCCACTGTCCGCCTCTGCCCGC
AGAGCCCACGCCCGACTAGCAGGCATGCCGCGGTAGGTAAGGGCCGCCGGACCGCGTAGAGAGC
CGGGCCCCGGACGGACGTTGGTTCTGCACTAAAACCCATCTTCCCCGGATGTGTGTCTCACCCC
TCATCCTTTTACTTTTTGCCCCTTCCACTTTGAGTACCAAATCCACAAGCCATTTTTTGAGGAG
AGTGAAAGAGAGTACCATGCTGGCGGCGCAGAGGGAAGGGGCCTACACCCGTCTTGGGGCTCGC
CCCACCCAGGGCTCCCTCCTGGAGCATCCCAGGCGGGCGGCACGCCAACAGCCCCCCCCTTGAA
TCTGCAGGGAGCAACTCTCCACTCCATATTTATTTAAACAATTTTTTCCCCAAAGGCATCCATA
GTGCACTAGCATTTTCTTGAACCAATAATGTATTAAAATTTTTTGATGTCAGCCTTGCATCAAG
GGCTTTATCAAAAAGTACAATAATAAATCCTCAGGTAGTACTGGGAATGGAAGGCTTTGCCATG
GGCCTGCTGCGTCAGACCAGTACTGGGAAGGAGGACGGTTGTAAGCAGTTGTTATTTAGTGATA
TTGTGGGTAACGTGAGAAGATAGAACAATGCTATAATATATAATGAACACGTGGGTATTTAATA
AGAAACATGATGTGAGATTACTTTGTCCCGCTTATTCTCCTCCCTGTTATCTGCTAGATCTAGT
TCTCAATCACTGCTCCCCCGTGTGTATTAGAATGCATGTAAGGTCTTCTTGTGTCCTGATGAAA
AATATGTGCTTGAAATGAGAAACTTTGATCTCTGCTTACTAATGTGCCCCATGTCCAAGTCCAA
CCTGCCTGTGCATGACCTGATCATTACATGGCTGTGGTTCCTAAGCCTGTTGCTGAAGTCATTG
TCGCTCAGCAATAGGGTGCAGTTTTCCAGGAATAGGCATTTGCCTAATTCCTGGCATGACACTC
TAGTGACTTCCTGGTGAGGCCCAGCCTGTCCTGGTACAGCAGGGTCTTGCTGTAACTCAGACAT
TCCAAGGGTATGGGAAGCCATATTCACACCTCACGCTCTGGACATGATTTAGGGAAGCAGGGAC
ACCCCCCGCCCCCCACCTTTGGGATCAGCCTCCGCCATTCCAAGTCAACACTCTTCTTGAGCAG
ACCGTGATTTGGAAGAGAGGCACCTGCTGGAAACCACACTTCTTGAAACAGCCTGGGTGACGGT
CCTTTAGGCAGCCTGCCGCCGTCTCTGTCCCGGTTCACCTTGCCGAGAGAGGCGCGTCTGCCCC
ACCCTCAAACCCTGTGGGGCCTGATGGTGCTCACGACTCTTCCTGCAAAGGGAACTGAAGACCT
CCACATTAAGTGGCTTTTTAACATGAAAAACACGGCAGCTGTAGCTCCCGAGCTACTCTCTTGC
CAGCATTTTCACATTTTGCCTTTCTCGTGGTAGAAGCCAGTACAGAGAAATTCTGTGGTGGGAA
CATTCGAGGTGTCACCCTGCAGAGCTATGGTGAGGTGTGGATAAGGCTTAGGTGCCAGGCTGTA
AGCATTCTGAGCTGGGCTTGTTGTTTTTAAGTCCTGTATATGTATGTAGTAGTTTGGGTGTGTA
TATATAGTAGCATTTCAAAATGGACGTACTGGTTTAACCTCCTATCCTTGGAGAGCAGCTGGCT
CTCCACCTTGTTACACATTATGTTAGAGAGGTAGCGAGCTGCTCTGCTATATGCCTTAAGCCAA
TATTTACTCATCAGGTCATTATTTTTTACAATGGCCATGGAATAAACCATTTTTACAAAAATAA
AAACAAAAAAAGCAAGGTGTTTTGGTATAATACCTTTTCAGGTGTGTGTGGATACGTGGCTGCA
TGACCGGGTGGGTGGGGGGGAGTGTCTCAGGGTCTTCTGTGACCTCACAGAACTGTCAGACTGT
ACAGTTTTCCAACTTGCCATATTCATGATGGGTTTGCATTTTAGCTGCAACAATAAAATTTTTT
TCTAAAGAACATGAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_002827 ⟹ NP_002818

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	50,510,383 - 50,585,241 (+)	NCBI
GRCh37	20	49,126,858 - 49,201,299 (+)	NCBI
Build 36	20	48,560,298 - 48,634,495 (+)	NCBI Archive
HuRef	20	45,875,585 - 45,950,061 (+)	NCBI
CHM1_1	20	49,031,996 - 49,106,433 (+)	NCBI

Sequence:

show sequence

CCTTCTGCTTCAGGGGCGGAGCCCCTGGCAGGCGTGATGCGTAGTTCCGGCTGCCGGTTGACAT
GAAGAAGCAGCAGCGGCTAGGGCGGCGGTAGCTGCAGGGGTCGGGGATTGCAGCGGGCCTCGGG
GCTAAGAGCGCGACGCGGCCTAGAGCGGCAGACGGCGCAGTGGGCCGAGAAGGAGGCGCAGCAG
CCGCCCTGGCCCGTCATGGAGATGGAAAAGGAGTTCGAGCAGATCGACAAGTCCGGGAGCTGGG
CGGCCATTTACCAGGATATCCGACATGAAGCCAGTGACTTCCCATGTAGAGTGGCCAAGCTTCC
TAAGAACAAAAACCGAAATAGGTACAGAGACGTCAGTCCCTTTGACCATAGTCGGATTAAACTA
CATCAAGAAGATAATGACTATATCAACGCTAGTTTGATAAAAATGGAAGAAGCCCAAAGGAGTT
ACATTCTTACCCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCA
GAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGTTAAAATGCGCACAA
TACTGGCCACAAAAAGAAGAAAAAGAGATGATCTTTGAAGACACAAATTTGAAATTAACATTGA
TCTCTGAAGATATCAAGTCATATTATACAGTGCGACAGCTAGAATTGGAAAACCTTACAACCCA
AGAAACTCGAGAGATCTTACATTTCCACTATACCACATGGCCTGACTTTGGAGTCCCTGAATCA
CCAGCCTCATTCTTGAACTTTCTTTTCAAAGTCCGAGAGTCAGGGTCACTCAGCCCGGAGCACG
GGCCCGTTGTGGTGCACTGCAGTGCAGGCATCGGCAGGTCTGGAACCTTCTGTCTGGCTGATAC
CTGCCTCTTGCTGATGGACAAGAGGAAAGACCCTTCTTCCGTTGATATCAAGAAAGTGCTGTTA
GAAATGAGGAAGTTTCGGATGGGGCTGATCCAGACAGCCGACCAGCTGCGCTTCTCCTACCTGG
CTGTGATCGAAGGTGCCAAATTCATCATGGGGGACTCTTCCGTGCAGGATCAGTGGAAGGAGCT
TTCCCACGAGGACCTGGAGCCCCCACCCGAGCATATCCCCCCACCTCCCCGGCCACCCAAACGA
ATCCTGGAGCCACACAATGGGAAATGCAGGGAGTTCTTCCCAAATCACCAGTGGGTGAAGGAAG
AGACCCAGGAGGATAAAGACTGCCCCATCAAGGAAGAAAAAGGAAGCCCCTTAAATGCCGCACC
CTACGGCATCGAAAGCATGAGTCAAGACACTGAAGTTAGAAGTCGGGTCGTGGGGGGAAGTCTT
CGAGGTGCCCAGGCTGCCTCCCCAGCCAAAGGGGAGCCGTCACTGCCCGAGAAGGACGAGGACC
ATGCACTGAGTTACTGGAAGCCCTTCCTGGTCAACATGTGCGTGGCTACGGTCCTCACGGCCGG
CGCTTACCTCTGCTACAGGTTCCTGTTCAACAGCAACACATAGCCTGACCCTCCTCCACTCCAC
CTCCACCCACTGTCCGCCTCTGCCCGCAGAGCCCACGCCCGACTAGCAGGCATGCCGCGGTAGG
TAAGGGCCGCCGGACCGCGTAGAGAGCCGGGCCCCGGACGGACGTTGGTTCTGCACTAAAACCC
ATCTTCCCCGGATGTGTGTCTCACCCCTCATCCTTTTACTTTTTGCCCCTTCCACTTTGAGTAC
CAAATCCACAAGCCATTTTTTGAGGAGAGTGAAAGAGAGTACCATGCTGGCGGCGCAGAGGGAA
GGGGCCTACACCCGTCTTGGGGCTCGCCCCACCCAGGGCTCCCTCCTGGAGCATCCCAGGCGGG
CGGCACGCCAACAGCCCCCCCCTTGAATCTGCAGGGAGCAACTCTCCACTCCATATTTATTTAA
ACAATTTTTTCCCCAAAGGCATCCATAGTGCACTAGCATTTTCTTGAACCAATAATGTATTAAA
ATTTTTTGATGTCAGCCTTGCATCAAGGGCTTTATCAAAAAGTACAATAATAAATCCTCAGGTA
GTACTGGGAATGGAAGGCTTTGCCATGGGCCTGCTGCGTCAGACCAGTACTGGGAAGGAGGACG
GTTGTAAGCAGTTGTTATTTAGTGATATTGTGGGTAACGTGAGAAGATAGAACAATGCTATAAT
ATATAATGAACACGTGGGTATTTAATAAGAAACATGATGTGAGATTACTTTGTCCCGCTTATTC
TCCTCCCTGTTATCTGCTAGATCTAGTTCTCAATCACTGCTCCCCCGTGTGTATTAGAATGCAT
GTAAGGTCTTCTTGTGTCCTGATGAAAAATATGTGCTTGAAATGAGAAACTTTGATCTCTGCTT
ACTAATGTGCCCCATGTCCAAGTCCAACCTGCCTGTGCATGACCTGATCATTACATGGCTGTGG
TTCCTAAGCCTGTTGCTGAAGTCATTGTCGCTCAGCAATAGGGTGCAGTTTTCCAGGAATAGGC
ATTTGCCTAATTCCTGGCATGACACTCTAGTGACTTCCTGGTGAGGCCCAGCCTGTCCTGGTAC
AGCAGGGTCTTGCTGTAACTCAGACATTCCAAGGGTATGGGAAGCCATATTCACACCTCACGCT
CTGGACATGATTTAGGGAAGCAGGGACACCCCCCGCCCCCCACCTTTGGGATCAGCCTCCGCCA
TTCCAAGTCAACACTCTTCTTGAGCAGACCGTGATTTGGAAGAGAGGCACCTGCTGGAAACCAC
ACTTCTTGAAACAGCCTGGGTGACGGTCCTTTAGGCAGCCTGCCGCCGTCTCTGTCCCGGTTCA
CCTTGCCGAGAGAGGCGCGTCTGCCCCACCCTCAAACCCTGTGGGGCCTGATGGTGCTCACGAC
TCTTCCTGCAAAGGGAACTGAAGACCTCCACATTAAGTGGCTTTTTAACATGAAAAACACGGCA
GCTGTAGCTCCCGAGCTACTCTCTTGCCAGCATTTTCACATTTTGCCTTTCTCGTGGTAGAAGC
CAGTACAGAGAAATTCTGTGGTGGGAACATTCGAGGTGTCACCCTGCAGAGCTATGGTGAGGTG
TGGATAAGGCTTAGGTGCCAGGCTGTAAGCATTCTGAGCTGGGCTTGTTGTTTTTAAGTCCTGT
ATATGTATGTAGTAGTTTGGGTGTGTATATATAGTAGCATTTCAAAATGGACGTACTGGTTTAA
CCTCCTATCCTTGGAGAGCAGCTGGCTCTCCACCTTGTTACACATTATGTTAGAGAGGTAGCGA
GCTGCTCTGCTATATGCCTTAAGCCAATATTTACTCATCAGGTCATTATTTTTTACAATGGCCA
TGGAATAAACCATTTTTACAAAAATAAAAACAAAAAAAGCAAGGTGTTTTGGTATAATACCTTT
TCAGGTGTGTGTGGATACGTGGCTGCATGACCGGGTGGGTGGGGGGGAGTGTCTCAGGGTCTTC
TGTGACCTCACAGAACTGTCAGACTGTACAGTTTTCCAACTTGCCATATTCATGATGGGTTTGC
ATTTTAGCTGCAACAATAAAATTTTTTTCTAAAGAACATGAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001265547	(Get FASTA)	NCBI Sequence Viewer
	NP_002818	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA60157	(Get FASTA)	NCBI Sequence Viewer
	AAA60158	(Get FASTA)	NCBI Sequence Viewer
	AAA60223	(Get FASTA)	NCBI Sequence Viewer
	AAH15660	(Get FASTA)	NCBI Sequence Viewer
	AAH18164	(Get FASTA)	NCBI Sequence Viewer
	AAK31734	(Get FASTA)	NCBI Sequence Viewer
	AAP35398	(Get FASTA)	NCBI Sequence Viewer
	BAF83327	(Get FASTA)	NCBI Sequence Viewer
	BAG38152	(Get FASTA)	NCBI Sequence Viewer
	BAG61697	(Get FASTA)	NCBI Sequence Viewer
	CAN59693	(Get FASTA)	NCBI Sequence Viewer
	CBW46546	(Get FASTA)	NCBI Sequence Viewer
	CBX55888	(Get FASTA)	NCBI Sequence Viewer
	CCD32728	(Get FASTA)	NCBI Sequence Viewer
	EAW75624	(Get FASTA)	NCBI Sequence Viewer
	EAW75625	(Get FASTA)	NCBI Sequence Viewer
	EAW75626	(Get FASTA)	NCBI Sequence Viewer
	P18031	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_002818 ⟸ NM_002827
- Peptide Label:	isoform 1
- UniProtKB:	P18031 (UniProtKB/Swiss-Prot), A8K3M3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEMEKEFEQIDKSGSWAAIYQDIRHEASDFPCRVAKLPKNKNRNRYRDVSPFDHSRIKLHQEDN DYINASLIKMEEAQRSYILTQGPLPNTCGHFWEMVWEQKSRGVVMLNRVMEKGSLKCAQYWPQK EEKEMIFEDTNLKLTLISEDIKSYYTVRQLELENLTTQETREILHFHYTTWPDFGVPESPASFL NFLFKVRESGSLSPEHGPVVVHCSAGIGRSGTFCLADTCLLLMDKRKDPSSVDIKKVLLEMRKF RMGLIQTADQLRFSYLAVIEGAKFIMGDSSVQDQWKELSHEDLEPPPEHIPPPPRPPKRILEPH NGKCREFFPNHQWVKEETQEDKDCPIKEEKGSPLNAAPYGIESMSQDTEVRSRVVGGSLRGAQA ASPAKGEPSLPEKDEDHALSYWKPFLVNMCVATVLTAGAYLCYRFLFNSNT hide sequence

RefSeq Acc Id:	NP_001265547 ⟸ NM_001278618
- Peptide Label:	isoform 2
- UniProtKB:	P18031 (UniProtKB/Swiss-Prot), B4DSN5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEEAQRSYILTQGPLPNTCGHFWEMVWEQKSRGVVMLNRVMEKGSLKCAQYWPQKEEKEMIFED TNLKLTLISEDIKSYYTVRQLELENLTTQETREILHFHYTTWPDFGVPESPASFLNFLFKVRES GSLSPEHGPVVVHCSAGIGRSGTFCLADTCLLLMDKRKDPSSVDIKKVLLEMRKFRMGLIQTAD QLRFSYLAVIEGAKFIMGDSSVQDQWKELSHEDLEPPPEHIPPPPRPPKRILEPHNGKCREFFP NHQWVKEETQEDKDCPIKEEKGSPLNAAPYGIESMSQDTEVRSRVVGGSLRGAQAASPAKGEPS LPEKDEDHALSYWKPFLVNMCVATVLTAGAYLCYRFLFNSNT hide sequence

RefSeq Acc Id:

ENSP00000437732 ⟸ ENST00000541713

RefSeq Acc Id:

ENSP00000360683 ⟸ ENST00000371621

Protein Domains

TYR_PHOSPHATASE_2 Tyrosine-protein phosphatase

Promoters

RGD ID:

6798920

Promoter ID:

HG_KWN:39808

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000079694

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	48,560,116 - 48,560,616 (+)	MPROMDB

RGD ID:

13207287

Promoter ID:

EPDNEW_H27225

Type:

initiation region

Name:

PTPN1_1

Description:

protein tyrosine phosphatase, non-receptor type 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	50,510,383 - 50,510,443	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_002827.4(PTPN1):c.*104dup	duplication	Insulin resistance, susceptibility to [RCV000014243]	Chr20:50582818..50582819 [GRCh38] Chr20:49199355..49199356 [GRCh37] Chr20:20q13.13	risk factor
GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	copy number loss	See cases [RCV000052767]	Chr20:49731076..51202566 [GRCh38] Chr20:48347613..49819103 [GRCh37] Chr20:47781020..49252510 [NCBI36] Chr20:20q13.13-13.2	pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	copy number gain	See cases [RCV000053037]	Chr20:49947237..55875406 [GRCh38] Chr20:48563774..54450462 [GRCh37] Chr20:47997181..53883869 [NCBI36] Chr20:20q13.13-13.2	pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
NM_001290268.1(FAM65C):c.2807G>A (p.Arg936Lys)	single nucleotide variant	Malignant melanoma [RCV000072690]	Chr20:50587278 [GRCh38] Chr20:49203815 [GRCh37] Chr20:48637222 [NCBI36] Chr20:20q13.13	not provided
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 20q13.13-13.2(chr20:49989123-51495645)x1	copy number loss	See cases [RCV000137268]	Chr20:49989123..51495645 [GRCh38] Chr20:48605660..50112183 [GRCh37] Chr20:48039067..49545590 [NCBI36] Chr20:20q13.13-13.2	likely pathogenic
GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	copy number loss	See cases [RCV000167570]	Chr20:47682662..49884981 [GRCh37] Chr20:20q13.13-13.2	likely pathogenic
GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	copy number loss	See cases [RCV000511555]	Chr20:47627844..52045480 [GRCh37] Chr20:20q13.13-13.2	pathogenic
GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	copy number loss	See cases [RCV000511416]	Chr20:47726521..50427649 [GRCh37] Chr20:20q13.13-13.2	likely 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 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
Single allele	duplication	not provided [RCV000677941]	Chr20:46962638..50647699 [GRCh37] Chr20:20q13.13-13.2	uncertain significance
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 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
NM_002827.4(PTPN1):c.1242C>T (p.Cys414=)	single nucleotide variant	not provided [RCV000972138]	Chr20:50581418 [GRCh38] Chr20:49197955 [GRCh37] Chr20:20q13.13	benign
NM_002827.4(PTPN1):c.492A>G (p.Thr164=)	single nucleotide variant	not provided [RCV000952786]	Chr20:50574654 [GRCh38] Chr20:49191191 [GRCh37] Chr20:20q13.13	benign
GRCh37/hg19 20q13.13(chr20:49150754-49443848)x3	copy number gain	not provided [RCV001007095]	Chr20:49150754..49443848 [GRCh37] Chr20:20q13.13	likely benign

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9642	AgrOrtholog
COSMIC	PTPN1	COSMIC
Ensembl Genes	ENSG00000196396	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000360683	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000437732	ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000371621	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000541713	ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH	3.90.190.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000196396	GTEx
HGNC ID	HGNC:9642	ENTREZGENE
Human Proteome Map	PTPN1	Human Proteome Map
InterPro	Prot-tyrosine_phosphatase-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTPase_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ptpn1/Ptpn2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tyr_Pase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Tyr_Pase_cat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TYR_PHOSPHATASE_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:5770	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	5770	ENTREZGENE
OMIM	125853	OMIM
	176885	OMIM
Pfam	Y_phosphatase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA33985	PharmGKB
PIRSF	Tyr-Ptase_nr1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS	PRTYPHPHTASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	TYR_PHOSPHATASE_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TYR_PHOSPHATASE_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TYR_PHOSPHATASE_PTP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	PTPc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTPc_motif	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF52799	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K3M3	ENTREZGENE, UniProtKB/TrEMBL
	B4DSN5	ENTREZGENE, UniProtKB/TrEMBL
	P18031	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q5TGD8	UniProtKB/Swiss-Prot
	Q9BQV9	UniProtKB/Swiss-Prot
	Q9NQQ4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-02-19	PTPN1	protein tyrosine phosphatase non-receptor type 1		protein tyrosine phosphatase, non-receptor type 1	Symbol and/or name change	5135510	APPROVED
2011-08-16	PTPN1	protein tyrosine phosphatase, non-receptor type 1	PTPN1	protein tyrosine phosphatase, non-receptor type 1	Symbol and/or name change	5135510	APPROVED

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
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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

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

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Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)