PPP1R8 (protein phosphatase 1 regulatory subunit 8)

Gene: PPP1R8 (protein phosphatase 1 regulatory subunit 8) Homo sapiens

Analyze

Symbol:

PPP1R8

Name:

protein phosphatase 1 regulatory subunit 8

RGD ID:

1314810

HGNC Page

HGNC:9296

Description:

Enables molecular function inhibitor activity. Predicted to be involved in negative regulation of protein dephosphorylation. Predicted to act upstream of or within cell population proliferation. Located in nuclear speck.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

activator of RNA decay; ARD-1; ARD1; NIPP-1; NIPP1; nuclear inhibitor of protein phosphatase 1; nuclear inhibitor of protein phosphatase-1; nuclear inhibitor of protein phosphatase-1 alpha; nuclear inhibitor of protein phosphatase-1 beta; nuclear subunit of PP-1; PRO2047; protein phosphatase 1, regulatory (inhibitor) subunit 8; RNase E

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

PPP1R8P1

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	1	27,830,782 - 27,851,676 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	27,830,782 - 27,851,676 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	28,157,293 - 28,178,187 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	28,029,880 - 28,050,770 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	27,841,434 - 27,862,325	NCBI
Celera	1	26,552,920 - 26,573,808 (+)	NCBI		Celera
Cytogenetic Map	1	p35.3	NCBI
HuRef	1	26,413,444 - 26,434,413 (+)	NCBI		HuRef
CHM1_1	1	28,272,445 - 28,293,759 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	27,672,075 - 27,692,970 (+)	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

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

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

2,4,6-tribromophenol (EXP)

2,6-dinitrotoluene (ISO)

aflatoxin B1 (ISO)

arsenite(3-) (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

Brodifacoum (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

copper(II) sulfate (EXP)

cylindrospermopsin (EXP)

decabromodiphenyl ether (EXP)

dibutyl phthalate (ISO)

ethanol (ISO)

flutamide (ISO)

folic acid (ISO)

gentamycin (ISO)

hydrogen peroxide (EXP)

ivermectin (EXP)

N-methyl-4-phenylpyridinium (ISO)

paracetamol (EXP)

sodium arsenite (ISO)

Soman (ISO)

tamoxifen (ISO)

tert-butyl hydroperoxide (EXP)

tributylstannane (ISO)

trimellitic anhydride (ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell population proliferation (IEA,ISO)

maintenance of RNA location (IEA)

miRNA processing (IEA)

mRNA processing (IEA)

mRNA splicing, via spliceosome (IEA)

negative regulation of protein dephosphorylation (IBA,IEA)

RNA catabolic process (TAS)

RNA splicing (IEA)

Cellular Component

cytoplasm (IEA)

nuclear speck (IBA,IDA,IEA)

nucleoplasm (IDA,TAS)

nucleus (IEA,TAS)

spliceosomal complex (IEA)

Molecular Function

DNA binding (IEA)

endonuclease activity (IEA)

molecular function inhibitor activity (EXP)

mRNA binding (IBA,IEA)

protein binding (IPI,ISO)

protein phosphatase inhibitor activity (IEA)

protein phosphatase regulator activity (IEA)

protein serine/threonine phosphatase inhibitor activity (IBA,IEA,TAS)

ribonuclease E activity (TAS)

RNA binding (IEA,TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ARD 1, a 64-kDa guanine nucleotide-binding protein with a carboxyl-terminal ADP-ribosylation factor domain.	Mishima K, etal., J Biol Chem 1993 Apr 25;268(12):8801-7.
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7499293	PMID:7524097	PMID:9153239	PMID:9407077	PMID:10103062	PMID:10432294	PMID:10564811	PMID:10637318	PMID:10827081	PMID:11034904	PMID:11104670	PMID:11739654
PMID:11909864	PMID:12105215	PMID:12477932	PMID:12788939	PMID:12788942	PMID:14699119	PMID:15231748	PMID:15489334	PMID:15501817	PMID:15659832	PMID:16048649	PMID:16131488
PMID:16169070	PMID:16216881	PMID:16344560	PMID:16710414	PMID:16826568	PMID:17207965	PMID:17332742	PMID:17353931	PMID:17724462	PMID:17804093	PMID:18029348	PMID:18253837
PMID:18842582	PMID:18850631	PMID:19460752	PMID:19490893	PMID:20360068	PMID:20516061	PMID:20671031	PMID:21098020	PMID:21360054	PMID:21382349	PMID:21832049	PMID:21873635
PMID:22365833	PMID:22768081	PMID:22815811	PMID:22939629	PMID:22940584	PMID:23080069	PMID:23940030	PMID:24366813	PMID:24510904	PMID:25416956	PMID:25593058	PMID:25907536
PMID:26186194	PMID:26344197	PMID:26496610	PMID:26760575	PMID:27173435	PMID:27644248	PMID:27880917	PMID:28330616	PMID:28514442	PMID:28680062	PMID:28718761	PMID:29180619
PMID:29395067	PMID:29581310	PMID:29656893	PMID:29669786	PMID:29898919	PMID:29955894	PMID:30344098	PMID:31046837	PMID:32296183	PMID:32416067	PMID:32457219	PMID:32780723
PMID:33226137	PMID:33462405	PMID:33939241	PMID:33961781	PMID:34187934	PMID:34373451	PMID:35032548	PMID:35271311	PMID:35384245	PMID:35831314	PMID:35944360	PMID:36215168
PMID:37689310

Genomics

Comparative Map Data

PPP1R8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	27,830,782 - 27,851,676 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	27,830,782 - 27,851,676 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	28,157,293 - 28,178,187 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	28,029,880 - 28,050,770 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	27,841,434 - 27,862,325	NCBI
Celera	1	26,552,920 - 26,573,808 (+)	NCBI		Celera
Cytogenetic Map	1	p35.3	NCBI
HuRef	1	26,413,444 - 26,434,413 (+)	NCBI		HuRef
CHM1_1	1	28,272,445 - 28,293,759 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	27,672,075 - 27,692,970 (+)	NCBI		T2T-CHM13v2.0

Ppp1r8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	132,554,235 - 132,570,480 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	132,554,240 - 132,570,480 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	132,826,924 - 132,843,169 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	132,826,929 - 132,843,169 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	132,382,840 - 132,399,084 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	132,099,005 - 132,115,196 (-)	NCBI		MGSCv36	mm8
Celera	4	130,988,440 - 131,004,694 (-)	NCBI		Celera
Cytogenetic Map	4	D2.3	NCBI
cM Map	4	65.97	NCBI

Ppp1r8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	150,315,607 - 150,332,726 (-)	NCBI		GRCr8
mRatBN7.2	5	145,031,632 - 145,048,753 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	145,031,498 - 145,048,752 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	147,731,212 - 147,748,314 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	149,500,801 - 149,517,903 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	149,489,586 - 149,506,709 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	151,012,035 - 151,029,227 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	151,011,319 - 151,029,233 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	154,679,822 - 154,696,564 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	152,305,936 - 152,323,075 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	152,315,933 - 152,332,636 (+)	NCBI
Celera	5	143,454,959 - 143,471,868 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Ppp1r8
(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_004955452	7,022,114 - 7,042,770 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955452	7,022,114 - 7,042,770 (+)	NCBI	ChiLan1.0	ChiLan1.0

PPP1R8
(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	1	199,000,368 - 199,021,177 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	198,116,834 - 198,137,640 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	27,092,588 - 27,113,399 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	28,133,265 - 28,153,678 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	28,133,358 - 28,152,588 (+)	Ensembl	panpan1.1		panPan2

PPP1R8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	72,519,790 - 72,540,601 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	72,520,819 - 72,538,776 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	69,097,762 - 69,118,552 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	73,080,410 - 73,102,124 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	73,080,413 - 73,100,300 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	69,907,211 - 69,928,922 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	70,917,968 - 70,939,676 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	71,914,369 - 71,936,091 (-)	NCBI		UU_Cfam_GSD_1.0

Ppp1r8
(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_024405058	46,235,357 - 46,260,468 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	12,062,817 - 12,086,315 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	12,062,816 - 12,085,248 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PPP1R8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	84,966,791 - 84,990,663 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	84,966,746 - 84,990,664 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	78,508,399 - 78,532,137 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PPP1R8
(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	20	104,945,719 - 104,965,970 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	104,945,566 - 104,966,252 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	11,499,989 - 11,520,681 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ppp1r8
(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_004624764	11,670,386 - 11,694,087 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	11,670,085 - 11,694,007 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PPP1R8
9 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	copy number gain	See cases [RCV000051801]	Chr1:26963045..32279045 [GRCh38] Chr1:27289536..32744646 [GRCh37] Chr1:27162123..32517233 [NCBI36] Chr1:1p36.11-35.2	pathogenic
GRCh38/hg38 1p35.3(chr1:27601122-27889441)x1	copy number loss	See cases [RCV000053801]	Chr1:27601122..27889441 [GRCh38] Chr1:27927633..28215952 [GRCh37] Chr1:27800220..28088539 [NCBI36] Chr1:1p35.3	pathogenic
NM_014110.4(PPP1R8):c.238C>T (p.Leu80=)	single nucleotide variant	Malignant melanoma [RCV000064703]	Chr1:27838819 [GRCh38] Chr1:28165330 [GRCh37] Chr1:28037917 [NCBI36] Chr1:1p35.3	not provided
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	copy number gain	See cases [RCV000138891]	Chr1:24381206..41401517 [GRCh38] Chr1:24707696..41886350 [GRCh37] Chr1:24580283..41658937 [NCBI36] Chr1:1p36.11-34.2	pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p35.3(chr1:28123257-28189681)x1	copy number loss	not provided [RCV001259562]	Chr1:28123257..28189681 [GRCh37] Chr1:1p35.3	uncertain significance
GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	copy number gain	not specified [RCV002052559]	Chr1:27543877..32819121 [GRCh37] Chr1:1p36.11-35.1	uncertain significance
NM_014110.5(PPP1R8):c.705G>T (p.Lys235Asn)	single nucleotide variant	Inborn genetic diseases [RCV002733755]	Chr1:27850095 [GRCh38] Chr1:28176606 [GRCh37] Chr1:1p35.3	uncertain significance
NM_014110.5(PPP1R8):c.793G>A (p.Gly265Arg)	single nucleotide variant	Inborn genetic diseases [RCV002991924]	Chr1:27850183 [GRCh38] Chr1:28176694 [GRCh37] Chr1:1p35.3	uncertain significance
NM_014110.5(PPP1R8):c.746C>T (p.Ser249Leu)	single nucleotide variant	Inborn genetic diseases [RCV002998485]	Chr1:27850136 [GRCh38] Chr1:28176647 [GRCh37] Chr1:1p35.3	uncertain significance
NM_014110.5(PPP1R8):c.973G>C (p.Glu325Gln)	single nucleotide variant	Inborn genetic diseases [RCV002788205]	Chr1:27850363 [GRCh38] Chr1:28176874 [GRCh37] Chr1:1p35.3	uncertain significance
NM_014110.5(PPP1R8):c.841A>T (p.Ile281Phe)	single nucleotide variant	Inborn genetic diseases [RCV002648519]	Chr1:27850231 [GRCh38] Chr1:28176742 [GRCh37] Chr1:1p35.3	uncertain significance
NM_014110.5(PPP1R8):c.710G>A (p.Arg237His)	single nucleotide variant	Inborn genetic diseases [RCV002989407]	Chr1:27850100 [GRCh38] Chr1:28176611 [GRCh37] Chr1:1p35.3	uncertain significance
NM_014110.5(PPP1R8):c.307C>T (p.Pro103Ser)	single nucleotide variant	Inborn genetic diseases [RCV003206407]	Chr1:27841049 [GRCh38] Chr1:28167560 [GRCh37] Chr1:1p35.3	uncertain significance
NM_014110.5(PPP1R8):c.29G>A (p.Ser10Asn)	single nucleotide variant	Inborn genetic diseases [RCV003367066]	Chr1:27830864 [GRCh38] Chr1:28157375 [GRCh37] Chr1:1p35.3	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1834
Count of miRNA genes:	634
Interacting mature miRNAs:	699
Transcripts:	ENST00000236412, ENST00000311772, ENST00000373931, ENST00000431586, ENST00000486634
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

D1S314E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	28,158,080 - 28,158,145	UniSTS	GRCh37
Build 36	1	28,030,667 - 28,030,732	RGD	NCBI36
Celera	1	26,553,707 - 26,553,772	RGD
HuRef	1	26,414,272 - 26,414,337	UniSTS

D1S2380

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	28,177,720 - 28,177,999	UniSTS	GRCh37
Build 36	1	28,050,307 - 28,050,586	RGD	NCBI36
Celera	1	26,573,345 - 26,573,624	RGD
Cytogenetic Map	1	p35.3	UniSTS
HuRef	1	26,433,950 - 26,434,229	UniSTS
TNG Radiation Hybrid Map	1	12645.0	UniSTS
GeneMap99-GB4 RH Map	1	92.86	UniSTS
GeneMap99-GB4 RH Map	1	92.73	UniSTS
Whitehead-RH Map	1	91.7	UniSTS
NCBI RH Map	1	142.5	UniSTS

A002Y18

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	28,176,798 - 28,176,916	UniSTS	GRCh37
Build 36	1	28,049,385 - 28,049,503	RGD	NCBI36
Celera	1	26,572,423 - 26,572,541	RGD
Cytogenetic Map	1	p35.3	UniSTS
HuRef	1	26,433,024 - 26,433,142	UniSTS
GeneMap99-GB4 RH Map	1	95.57	UniSTS

D1S3446

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	28,177,544 - 28,177,892	UniSTS	GRCh37
Build 36	1	28,050,131 - 28,050,479	RGD	NCBI36
Celera	1	26,573,169 - 26,573,517	RGD
Cytogenetic Map	1	p35.3	UniSTS
HuRef	1	26,433,774 - 26,434,122	UniSTS
Whitehead-YAC Contig Map	1		UniSTS

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

2381

2077

1520

444

1482

286

4166

1720

3416

369

1447

1561

174

1204

2598

Low

913

206

180

469

179

191

477

318

190

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_002713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_138558	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF061958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF061959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF126488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH007575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313814	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL020997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL109927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX775985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC093017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI459680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR450309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA077576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA167043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA693246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ223931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U14575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000236412 ⟹ ENSP00000236412

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	27,830,814 - 27,851,528 (+)	Ensembl

RefSeq Acc Id:

ENST00000311772 ⟹ ENSP00000311677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	27,830,782 - 27,851,676 (+)	Ensembl

RefSeq Acc Id:

ENST00000373931 ⟹ ENSP00000363042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	27,830,822 - 27,851,672 (+)	Ensembl

RefSeq Acc Id:

ENST00000431586 ⟹ ENSP00000410206

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	27,831,324 - 27,850,432 (+)	Ensembl

RefSeq Acc Id:

ENST00000486634

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	27,850,093 - 27,851,676 (+)	Ensembl

RefSeq Acc Id:

NM_002713 ⟹ NP_002704

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	27,830,782 - 27,851,676 (+)	NCBI
GRCh37	1	28,157,252 - 28,178,183 (+)	ENTREZGENE
Build 36	1	28,029,880 - 28,050,770 (+)	NCBI Archive
HuRef	1	26,413,444 - 26,434,413 (+)	ENTREZGENE
CHM1_1	1	28,272,518 - 28,293,759 (+)	NCBI
T2T-CHM13v2.0	1	27,672,075 - 27,692,970 (+)	NCBI

Sequence:

show sequence

CTTCCAGTTTCCCGGCGTGCTTAGGGCGCGCCAAATGGGAGGGGGAGACGCAAGATGGCGGCAG
CCGCGAACTCCGGCTCTAGCCTCCCGCTGTTCGACTGCCCAACCTGGTGAGTGGCGGGGCGGCC
AGGGCTAGAGTGGCCCGGCCGGAGCTAGCCTGGGCTGGAAGGGCGGCTCTTTTTTTACTTTTCT
GCTGCGAGCCGAACGGCTCAGAAACCCCGGAATGGTTGAGGAAAAACTGTTTGCTGCACCGGGC
CGGGCGACGTGTTGAAGAACCGAGAGCCTGGAGCCCAGGCCCAGGAACTGAAGAAACCCGGGGT
TGGGGGCTCAAAGGCGCTCACTTAGGCAGCCCCTTTGAGCGATTAGCCAGTCGCCGGAGCGCTT
CGAGGCCTTGGCCCGAACTTACGCCCAACTCTTGACTGAGTGCCTGGTGCTCTCGTGGAGCATC
GCATCTGGCCCCTTCCTGTACGTCCCGAGCGCGCTCGAGCCAGCCCCGGCCCCAACCCTACCTC
CAAGCCCCGCATCCCTCTGTGGTTGCTGCATCCCTCGTGCGGCACTTGTCTGTCTGCCACAGAG
AATACGAGGGGCAGGTAAGCCCCCTCCCGGTTTACATCTGGATGTAGTCAAAGGAGACAAACTA
ATTGAGAAACTGATTATTGATGAGAAGAAGTATTACTTATTTGGGAGAAACCCTGATTTGTGTG
ACTTTACCATTGACCACCAGTCTTGCTCTCGGGTCCATGCTGCACTTGTCTACCACAAGCATCT
GAAGAGAGTTTTCCTGATAGATCTCAACAGTAAACCTGACAGAGTTCAACACTGCCCACAACAA
GCGGATTTCTACCCTTACCATTGAGGAGGGAAATCTGGACATTCAAAGACCAAAGAGGAAGAGG
AAGAACTCACGGGTGACATTCAGTGAGGATGATGAGATCATCAACCCAGAGGATGTGGATCCCT
CAGTTGGTCGATTCAGGAACATGGTGCAAACTGCAGTGGTCCCAGTCAAGAAGAAGCGTGTGGA
GGGCCCTGGCTCCCTGGGCCTGGAGGAATCAGGGAGCAGGCGCATGCAGAACTTTGCCTTCAGC
GGAGGACTCTACGGGGGCCTGCCCCCCACACACAGTGAAGCAGGCTCCCAGCCACATGGCATCC
ATGGGACAGCACTCATCGGTGGCTTGCCCATGCCATACCCAAACCTTGCCCCTGATGTGGACTT
GACTCCTGTTGTGCCGTCAGCAGTGAACATGAACCCTGCACCAAACCCTGCAGTCTATAACCCT
GAAGCTGTAAATGAACCCAAGAAGAAGAAATATGCAAAAGAGGCTTGGCCAGGCAAGAAGCCCA
CACCTTCCTTGCTGATTTGATATTTTTGGTCATGGAGAAGGGTGGGATTGGGTGGGAATGGGGT
GGAAGGGTGATGGGGAGCTAATGAACTAGGGAGAAAAACTTTCCATGTGTGCGGTATCGTCTTT
CAGAATGTCTCCTGGCATCCTAACCATGTAATATGACAATTGGGGGTGGGGTTGAAATAGCCCA
TAAAGACCTGTCTTCACAACACTTGCATTGTAGAGAAAGGCTTCTTATATCCTTTTCAATAGAC
TGCCCTGGCTCTTTCCTAGGCCTTCCACTACCTCCTTTCTTTCTCCCACTTTCTAGGATCATTT
TTATGTAAAGTCACATATCCCAGGCCCTCAGGTTGAATCCAGAGCTGTAGAGGTTACAGTAGCA
TCACCAGCCTTGGGGGTCCAGAGCCTAATTTATATTCACTATCCTTCCAAGTCCCGGGTAGCAG
AAGGGTTGCCATAGATCTCAGTTTGATCAAAAAGAAGGCTTAGAATTCTGCAGTTAAGCTGAGG
TTTAAACTAAAAAATGTTTCCTTGGGTCAGTGGTTTTGAGGTCCAGTAGCTAGGCTTTTCTCTT
TTGTCCTTCCTGTTGGAATGAAAACATTTCGATTTTCCTTCATCTGTGACTGGTGCCATAGACA
CAGGTTTATAGTTTTAACTTACAGTATTGTTTGAAATTTACCTGTTTTTCTTGTCAAACCTGAG
CACTCCTCCTGCTGAAGTTTCTTATTTAATTCCAGAGTACTGTCCTCTACTCTAAGGCATTACT
TTTAAGTGTATTATGAAGGCAGTTTTCAAAGGATATGACCAGTTGGGGTAATTCAAATTAAAAA
GGAAAAGATTTGTTTGGAAGTAACTGGTGTCTCTAAGAGGAATTTTTAGATGTCAGTTTGGAGG
CTCTTTCCCCCCTCAATTGAGAGCTCTTGTTATTCAGAGCTCCAAGACTAGACCTGGCTAACAA
ACATAGGAGACAAAGTTAGGAAACATTGATACAAGCTTTGTACAGAGATTTGTACATTTGTGTA
ATAGGCCTTTTCATGCTTTATGTGTAGCTTTTTACCTGTAACCTTTATTACATTGTAAATTAAA
CGTAACTTTTGTCATTTGGGTGCAGGCTGTGAATTTGTCTCTCAGTCACTGATTGCCACTGCCA
TCTGGAAATGTTTGCTAAAGGCACAGTCACTGGGCTTGGGAGGCAATGCTCCATCCCCATTATA
TTACAAATAAAGATGCCCTAAATGAGTGTGGAAA

hide sequence

RefSeq Acc Id:

NM_014110 ⟹ NP_054829

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	27,830,782 - 27,851,676 (+)	NCBI
GRCh37	1	28,157,252 - 28,178,183 (+)	ENTREZGENE
Build 36	1	28,029,880 - 28,050,770 (+)	NCBI Archive
HuRef	1	26,413,444 - 26,434,413 (+)	ENTREZGENE
CHM1_1	1	28,272,445 - 28,293,759 (+)	NCBI
T2T-CHM13v2.0	1	27,672,075 - 27,692,970 (+)	NCBI

Sequence:

show sequence

CTTCCAGTTTCCCGGCGTGCTTAGGGCGCGCCAAATGGGAGGGGGAGACGCAAGATGGCGGCAG
CCGCGAACTCCGGCTCTAGCCTCCCGCTGTTCGACTGCCCAACCTGGGCAGGTAAGCCCCCTCC
CGGTTTACATCTGGATGTAGTCAAAGGAGACAAACTAATTGAGAAACTGATTATTGATGAGAAG
AAGTATTACTTATTTGGGAGAAACCCTGATTTGTGTGACTTTACCATTGACCACCAGTCTTGCT
CTCGGGTCCATGCTGCACTTGTCTACCACAAGCATCTGAAGAGAGTTTTCCTGATAGATCTCAA
CAGTACACACGGCACTTTCTTGGGTCACATTCGGTTGGAACCTCACAAGCCTCAGCAAATTCCC
ATCGATTCCACGGTCTCATTTGGCGCATCCACAAGGGCATACACTCTGCGCGAGAAGCCTCAGA
CATTGCCATCGGCTGTGAAAGGAGATGAGAAGATGGGTGGAGAGGATGATGAACTCAAGGGCTT
ACTGGGGCTTCCAGAGGAGGAAACTGAGCTTGATAACCTGACAGAGTTCAACACTGCCCACAAC
AAGCGGATTTCTACCCTTACCATTGAGGAGGGAAATCTGGACATTCAAAGACCAAAGAGGAAGA
GGAAGAACTCACGGGTGACATTCAGTGAGGATGATGAGATCATCAACCCAGAGGATGTGGATCC
CTCAGTTGGTCGATTCAGGAACATGGTGCAAACTGCAGTGGTCCCAGTCAAGAAGAAGCGTGTG
GAGGGCCCTGGCTCCCTGGGCCTGGAGGAATCAGGGAGCAGGCGCATGCAGAACTTTGCCTTCA
GCGGAGGACTCTACGGGGGCCTGCCCCCCACACACAGTGAAGCAGGCTCCCAGCCACATGGCAT
CCATGGGACAGCACTCATCGGTGGCTTGCCCATGCCATACCCAAACCTTGCCCCTGATGTGGAC
TTGACTCCTGTTGTGCCGTCAGCAGTGAACATGAACCCTGCACCAAACCCTGCAGTCTATAACC
CTGAAGCTGTAAATGAACCCAAGAAGAAGAAATATGCAAAAGAGGCTTGGCCAGGCAAGAAGCC
CACACCTTCCTTGCTGATTTGATATTTTTGGTCATGGAGAAGGGTGGGATTGGGTGGGAATGGG
GTGGAAGGGTGATGGGGAGCTAATGAACTAGGGAGAAAAACTTTCCATGTGTGCGGTATCGTCT
TTCAGAATGTCTCCTGGCATCCTAACCATGTAATATGACAATTGGGGGTGGGGTTGAAATAGCC
CATAAAGACCTGTCTTCACAACACTTGCATTGTAGAGAAAGGCTTCTTATATCCTTTTCAATAG
ACTGCCCTGGCTCTTTCCTAGGCCTTCCACTACCTCCTTTCTTTCTCCCACTTTCTAGGATCAT
TTTTATGTAAAGTCACATATCCCAGGCCCTCAGGTTGAATCCAGAGCTGTAGAGGTTACAGTAG
CATCACCAGCCTTGGGGGTCCAGAGCCTAATTTATATTCACTATCCTTCCAAGTCCCGGGTAGC
AGAAGGGTTGCCATAGATCTCAGTTTGATCAAAAAGAAGGCTTAGAATTCTGCAGTTAAGCTGA
GGTTTAAACTAAAAAATGTTTCCTTGGGTCAGTGGTTTTGAGGTCCAGTAGCTAGGCTTTTCTC
TTTTGTCCTTCCTGTTGGAATGAAAACATTTCGATTTTCCTTCATCTGTGACTGGTGCCATAGA
CACAGGTTTATAGTTTTAACTTACAGTATTGTTTGAAATTTACCTGTTTTTCTTGTCAAACCTG
AGCACTCCTCCTGCTGAAGTTTCTTATTTAATTCCAGAGTACTGTCCTCTACTCTAAGGCATTA
CTTTTAAGTGTATTATGAAGGCAGTTTTCAAAGGATATGACCAGTTGGGGTAATTCAAATTAAA
AAGGAAAAGATTTGTTTGGAAGTAACTGGTGTCTCTAAGAGGAATTTTTAGATGTCAGTTTGGA
GGCTCTTTCCCCCCTCAATTGAGAGCTCTTGTTATTCAGAGCTCCAAGACTAGACCTGGCTAAC
AAACATAGGAGACAAAGTTAGGAAACATTGATACAAGCTTTGTACAGAGATTTGTACATTTGTG
TAATAGGCCTTTTCATGCTTTATGTGTAGCTTTTTACCTGTAACCTTTATTACATTGTAAATTA
AACGTAACTTTTGTCATTTGGGTGCAGGCTGTGAATTTGTCTCTCAGTCACTGATTGCCACTGC
CATCTGGAAATGTTTGCTAAAGGCACAGTCACTGGGCTTGGGAGGCAATGCTCCATCCCCATTA
TATTACAAATAAAGATGCCCTAAATGAGTGTGGAAA

hide sequence

RefSeq Acc Id:

NM_138558 ⟹ NP_612568

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	27,830,782 - 27,851,676 (+)	NCBI
GRCh37	1	28,157,252 - 28,178,183 (+)	ENTREZGENE
Build 36	1	28,029,880 - 28,050,770 (+)	NCBI Archive
HuRef	1	26,413,444 - 26,434,413 (+)	ENTREZGENE
CHM1_1	1	28,272,518 - 28,293,759 (+)	NCBI
T2T-CHM13v2.0	1	27,672,075 - 27,692,970 (+)	NCBI

Sequence:

show sequence

CTTCCAGTTTCCCGGCGTGCTTAGGGCGCGCCAAATGGGAGGGGGAGACGCAAGATGGCGGCAG
CCGCGAACTCCGGCTCTAGCCTCCCGCTGTTCGACTGCCCAACCTGGTGAGTGGCGGGGCGGCC
AGGGCTAGAGTGGCCCGGCCGGAGCTAGCCTGGGCTGGAAGGGCGGCTCTTTTTTTACTTTTCT
GCTGCGAGCCGAACGGCTCAGAAACCCCGGAATGGTTGAGGAAAAACTGTTTGCTGCACCGGGC
CGGGCGACGTGTTGAAGAACCGAGAGCCTGGAGCCCAGGCCCAGGAACTGAAGAAACCCGGGGT
TGGGGGCTCAAAGGCGCTCACTTAGGCAGCCCCTTTGAGCGATTAGCCAGTCGCCGGAGCGCTT
CGAGGCCTTGGCCCGAACTTACGCCCAACTCTTGACTGAGTGCCTGGTGCTCTCGTGGAGCATC
GCATCTGGCCCCTTCCTGGCAGGTAAGCCCCCTCCCGGTTTACATCTGGATGTAGTCAAAGGAG
ACAAACTAATTGAGAAACTGATTATTGATGAGAAGAAGTATTACTTATTTGGGAGAAACCCTGA
TTTGTGTGACTTTACCATTGACCACCAGTCTTGCTCTCGGGTCCATGCTGCACTTGTCTACCAC
AAGCATCTGAAGAGAGTTTTCCTGATAGATCTCAACAGTACACACGGCACTTTCTTGGGTCACA
TTCGGTTGGAACCTCACAAGCCTCAGCAAATTCCCATCGATTCCACGGTCTCATTTGGCGCATC
CACAAGGGCATACACTCTGCGCGAGAAGCCTCAGACATTGCCATCGGCTGTGAAAGGAGATGAG
AAGATGGGTGGAGAGGATGATGAACTCAAGGGCTTACTGGGGCTTCCAGAGGAGGAAACTGAGC
TTGATAACCTGACAGAGTTCAACACTGCCCACAACAAGCGGATTTCTACCCTTACCATTGAGGA
GGGAAATCTGGACATTCAAAGACCAAAGAGGAAGAGGAAGAACTCACGGGTGACATTCAGTGAG
GATGATGAGATCATCAACCCAGAGGATGTGGATCCCTCAGTTGGTCGATTCAGGAACATGGTGC
AAACTGCAGTGGTCCCAGTCAAGAAGAAGCGTGTGGAGGGCCCTGGCTCCCTGGGCCTGGAGGA
ATCAGGGAGCAGGCGCATGCAGAACTTTGCCTTCAGCGGAGGACTCTACGGGGGCCTGCCCCCC
ACACACAGTGAAGCAGGCTCCCAGCCACATGGCATCCATGGGACAGCACTCATCGGTGGCTTGC
CCATGCCATACCCAAACCTTGCCCCTGATGTGGACTTGACTCCTGTTGTGCCGTCAGCAGTGAA
CATGAACCCTGCACCAAACCCTGCAGTCTATAACCCTGAAGCTGTAAATGAACCCAAGAAGAAG
AAATATGCAAAAGAGGCTTGGCCAGGCAAGAAGCCCACACCTTCCTTGCTGATTTGATATTTTT
GGTCATGGAGAAGGGTGGGATTGGGTGGGAATGGGGTGGAAGGGTGATGGGGAGCTAATGAACT
AGGGAGAAAAACTTTCCATGTGTGCGGTATCGTCTTTCAGAATGTCTCCTGGCATCCTAACCAT
GTAATATGACAATTGGGGGTGGGGTTGAAATAGCCCATAAAGACCTGTCTTCACAACACTTGCA
TTGTAGAGAAAGGCTTCTTATATCCTTTTCAATAGACTGCCCTGGCTCTTTCCTAGGCCTTCCA
CTACCTCCTTTCTTTCTCCCACTTTCTAGGATCATTTTTATGTAAAGTCACATATCCCAGGCCC
TCAGGTTGAATCCAGAGCTGTAGAGGTTACAGTAGCATCACCAGCCTTGGGGGTCCAGAGCCTA
ATTTATATTCACTATCCTTCCAAGTCCCGGGTAGCAGAAGGGTTGCCATAGATCTCAGTTTGAT
CAAAAAGAAGGCTTAGAATTCTGCAGTTAAGCTGAGGTTTAAACTAAAAAATGTTTCCTTGGGT
CAGTGGTTTTGAGGTCCAGTAGCTAGGCTTTTCTCTTTTGTCCTTCCTGTTGGAATGAAAACAT
TTCGATTTTCCTTCATCTGTGACTGGTGCCATAGACACAGGTTTATAGTTTTAACTTACAGTAT
TGTTTGAAATTTACCTGTTTTTCTTGTCAAACCTGAGCACTCCTCCTGCTGAAGTTTCTTATTT
AATTCCAGAGTACTGTCCTCTACTCTAAGGCATTACTTTTAAGTGTATTATGAAGGCAGTTTTC
AAAGGATATGACCAGTTGGGGTAATTCAAATTAAAAAGGAAAAGATTTGTTTGGAAGTAACTGG
TGTCTCTAAGAGGAATTTTTAGATGTCAGTTTGGAGGCTCTTTCCCCCCTCAATTGAGAGCTCT
TGTTATTCAGAGCTCCAAGACTAGACCTGGCTAACAAACATAGGAGACAAAGTTAGGAAACATT
GATACAAGCTTTGTACAGAGATTTGTACATTTGTGTAATAGGCCTTTTCATGCTTTATGTGTAG
CTTTTTACCTGTAACCTTTATTACATTGTAAATTAAACGTAACTTTTGTCATTTGGGTGCAGGC
TGTGAATTTGTCTCTCAGTCACTGATTGCCACTGCCATCTGGAAATGTTTGCTAAAGGCACAGT
CACTGGGCTTGGGAGGCAATGCTCCATCCCCATTATATTACAAATAAAGATGCCCTAAATGAGT
GTGGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_002704	(Get FASTA)	NCBI Sequence Viewer
	NP_054829	(Get FASTA)	NCBI Sequence Viewer
	NP_612568	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA64749	(Get FASTA)	NCBI Sequence Viewer
	AAD22486	(Get FASTA)	NCBI Sequence Viewer
	AAD24669	(Get FASTA)	NCBI Sequence Viewer
	AAD24670	(Get FASTA)	NCBI Sequence Viewer
	AAD31541	(Get FASTA)	NCBI Sequence Viewer
	AAD31542	(Get FASTA)	NCBI Sequence Viewer
	AAH01597	(Get FASTA)	NCBI Sequence Viewer
	AAH13360	(Get FASTA)	NCBI Sequence Viewer
	AAH93017	(Get FASTA)	NCBI Sequence Viewer
	ABB04281	(Get FASTA)	NCBI Sequence Viewer
	BAF84766	(Get FASTA)	NCBI Sequence Viewer
	BAG36550	(Get FASTA)	NCBI Sequence Viewer
	BAG60117	(Get FASTA)	NCBI Sequence Viewer
	BAG65401	(Get FASTA)	NCBI Sequence Viewer
	CAE11692	(Get FASTA)	NCBI Sequence Viewer
	CAG29305	(Get FASTA)	NCBI Sequence Viewer
	EAX07731	(Get FASTA)	NCBI Sequence Viewer
	EAX07732	(Get FASTA)	NCBI Sequence Viewer
	EAX07733	(Get FASTA)	NCBI Sequence Viewer
	EAX07734	(Get FASTA)	NCBI Sequence Viewer
	EAX07735	(Get FASTA)	NCBI Sequence Viewer
	EAX07736	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000236412
	ENSP00000236412.7
	ENSP00000311677
	ENSP00000311677.5
	ENSP00000363042
	ENSP00000363042.4
	ENSP00000410206.1
GenBank Protein	Q12972	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_054829 ⟸ NM_014110
- Peptide Label:	isoform alpha
- UniProtKB:	Q9UBH1 (UniProtKB/Swiss-Prot), Q6PKF6 (UniProtKB/Swiss-Prot), Q5TIF2 (UniProtKB/Swiss-Prot), Q5TEJ4 (UniProtKB/Swiss-Prot), Q5TEJ2 (UniProtKB/Swiss-Prot), Q9UBZ0 (UniProtKB/Swiss-Prot), Q12972 (UniProtKB/Swiss-Prot), Q561W4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAAANSGSSLPLFDCPTWAGKPPPGLHLDVVKGDKLIEKLIIDEKKYYLFGRNPDLCDFTIDH QSCSRVHAALVYHKHLKRVFLIDLNSTHGTFLGHIRLEPHKPQQIPIDSTVSFGASTRAYTLRE KPQTLPSAVKGDEKMGGEDDELKGLLGLPEEETELDNLTEFNTAHNKRISTLTIEEGNLDIQRP KRKRKNSRVTFSEDDEIINPEDVDPSVGRFRNMVQTAVVPVKKKRVEGPGSLGLEESGSRRMQN FAFSGGLYGGLPPTHSEAGSQPHGIHGTALIGGLPMPYPNLAPDVDLTPVVPSAVNMNPAPNPA VYNPEAVNEPKKKKYAKEAWPGKKPTPSLLI hide sequence

RefSeq Acc Id:	NP_002704 ⟸ NM_002713
- Peptide Label:	isoform gamma
- UniProtKB:	Q6ICT4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVQTAVVPVKKKRVEGPGSLGLEESGSRRMQNFAFSGGLYGGLPPTHSEAGSQPHGIHGTALIG GLPMPYPNLAPDVDLTPVVPSAVNMNPAPNPAVYNPEAVNEPKKKKYAKEAWPGKKPTPSLLI hide sequence

RefSeq Acc Id:	NP_612568 ⟸ NM_138558
- Peptide Label:	isoform beta/delta
- UniProtKB:	A0A0A0MT09 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGGEDDELKGLLGLPEEETELDNLTEFNTAHNKRISTLTIEEGNLDIQRPKRKRKNSRVTFSED DEIINPEDVDPSVGRFRNMVQTAVVPVKKKRVEGPGSLGLEESGSRRMQNFAFSGGLYGGLPPT HSEAGSQPHGIHGTALIGGLPMPYPNLAPDVDLTPVVPSAVNMNPAPNPAVYNPEAVNEPKKKK YAKEAWPGKKPTPSLLI hide sequence

RefSeq Acc Id:

ENSP00000363042 ⟸ ENST00000373931

RefSeq Acc Id:

ENSP00000311677 ⟸ ENST00000311772

RefSeq Acc Id:

ENSP00000410206 ⟸ ENST00000431586

RefSeq Acc Id:

ENSP00000236412 ⟸ ENST00000236412

Protein Domains

FHA

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q12972-F1-model_v2	AlphaFold	Q12972	1-351	view protein structure

Promoters

RGD ID:

6854696

Promoter ID:

EPDNEW_H513

Type:

initiation region

Name:

PPP1R8_2

Description:

protein phosphatase 1 regulatory subunit 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H514

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	27,830,686 - 27,830,746	EPDNEW

RGD ID:

6854698

Promoter ID:

EPDNEW_H514

Type:

initiation region

Name:

PPP1R8_1

Description:

protein phosphatase 1 regulatory subunit 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H513

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	27,830,814 - 27,830,874	EPDNEW

RGD ID:

6785197

Promoter ID:

HG_KWN:1598

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:

ENST00000399118, NM_002713, NM_138558, OTTHUMT00000010528, OTTHUMT00000100239, UC009VTC.1, UC009VTD.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	28,029,639 - 28,030,139 (+)	MPROMDB

RGD ID:

6814394

Promoter ID:

HG_MGC:15

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

BC013360

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	28,030,986 - 28,031,486 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9296	AgrOrtholog
COSMIC	PPP1R8	COSMIC
Ensembl Genes	ENSG00000117751	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000236412	ENTREZGENE
	ENST00000236412.11	UniProtKB/Swiss-Prot
	ENST00000311772	ENTREZGENE
	ENST00000311772.10	UniProtKB/Swiss-Prot
	ENST00000373931	ENTREZGENE
	ENST00000373931.8	UniProtKB/Swiss-Prot
	ENST00000431586.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.200.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.250.1290	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000117751	GTEx
HGNC ID	HGNC:9296	ENTREZGENE
Human Proteome Map	PPP1R8	Human Proteome Map
InterPro	FHA_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SMAD_FHA_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:5511	UniProtKB/Swiss-Prot
NCBI Gene	5511	ENTREZGENE
OMIM	602636	OMIM
PANTHER	KANADAPTIN-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NUCLEAR INHIBITOR OF PROTEIN PHOSPHATASE-1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FHA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA33659	PharmGKB
PROSITE	FHA_DOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	FHA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF49879	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A0MT09	ENTREZGENE, UniProtKB/TrEMBL
	PP1R8_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q38J66_HUMAN	UniProtKB/TrEMBL
	Q561W4	ENTREZGENE, UniProtKB/TrEMBL
	Q5TEJ2	ENTREZGENE
	Q5TEJ4	ENTREZGENE
	Q5TIF2	ENTREZGENE
	Q6ICT4	ENTREZGENE, UniProtKB/TrEMBL
	Q6PKF6	ENTREZGENE
	Q9UBH1	ENTREZGENE
	Q9UBZ0	ENTREZGENE
UniProt Secondary	Q5TEJ2	UniProtKB/Swiss-Prot
	Q5TEJ4	UniProtKB/Swiss-Prot
	Q5TIF2	UniProtKB/Swiss-Prot
	Q6PKF6	UniProtKB/Swiss-Prot
	Q9UBH1	UniProtKB/Swiss-Prot
	Q9UBZ0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	PPP1R8	protein phosphatase 1 regulatory subunit 8	PPP1R8	protein phosphatase 1, regulatory subunit 8	Symbol and/or name change	5135510	APPROVED
2011-10-11	PPP1R8	protein phosphatase 1, regulatory subunit 8	PPP1R8	protein phosphatase 1, regulatory (inhibitor) subunit 8	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
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)

Send us a Message

Imported Disease Annotations - ClinVar