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Gene: PWP1 (PWP1 homolog, endonuclein) Homo sapiens

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Symbol:

PWP1

Name:

PWP1 homolog, endonuclein

RGD ID:

1605095

HGNC Page

HGNC:17015

Description:

Predicted to enable H4K20me3 modified histone binding activity and histone chaperone activity. Involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I. Located in Golgi apparatus and nucleolus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

endonuclein; IEF-SSP-9502; keratinocyte protein IEF SSP 9502; NCLB; nuclear phosphoprotein similar to S. cerevisiae PWP1; periodic tryptophan protein 1 homolog; PWP1 homolog

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Pwp1 (PWP1 homolog, endonuclein)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Pwp1 (PWP1 homolog, endonuclein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Pwp1 (PWP1 homolog, endonuclein)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PWP1 (PWP1 homolog, endonuclein)	NCBI	Ortholog
Canis lupus familiaris (dog):	PWP1 (PWP1 homolog, endonuclein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pwp1 (PWP1 homolog, endonuclein)	NCBI	Ortholog
Sus scrofa (pig):	PWP1 (PWP1 homolog, endonuclein)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PWP1 (PWP1 homolog, endonuclein)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Pwp1 (PWP1 homolog, endonuclein)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Pwp1 (PWP1 homolog, endonuclein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Pwp1 (PWP1 homolog, endonuclein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	pwp1 (PWP1 homolog, endonuclein)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	JC8.2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	PWP1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	nclb	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	pwp1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	pwp1.S	Alliance	DIOPT (Xenbase)

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	12	107,685,799 - 107,713,162 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	107,685,799 - 107,713,162 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	108,079,576 - 108,106,939 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	106,603,720 - 106,630,387 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	107,745,148 - 107,771,815 (+)	NCBI		Celera
Cytogenetic Map	12	q23.3	NCBI
HuRef	12	105,139,992 - 105,166,399 (+)	NCBI		HuRef
CHM1_1	12	108,045,562 - 108,072,208 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	107,649,292 - 107,676,654 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

4,4'-sulfonyldiphenol (EXP)

4-amino-2,6-dinitrotoluene (ISO)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium dichloride (EXP)

captan (ISO)

carbon nanotube (ISO)

chromium(6+) (EXP,ISO)

cyclosporin A (EXP)

DDE (EXP)

dicrotophos (EXP)

diethylstilbestrol (EXP)

dioxygen (ISO)

elemental selenium (EXP)

flutamide (ISO)

folic acid (ISO)

folpet (ISO)

FR900359 (EXP)

geraniol (EXP)

hydrogen peroxide (EXP)

ivermectin (EXP)

methoxychlor (ISO)

nitrates (ISO)

ochratoxin A (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

pentachlorophenol (ISO)

potassium chromate (EXP)

potassium dichromate (EXP)

quercetin (EXP)

resveratrol (EXP,ISO)

selenium atom (EXP)

sodium arsenite (EXP)

sodium dichromate (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

titanium dioxide (ISO)

valproic acid (EXP,ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin organization (IEA)

DNA-templated transcription (TAS)

negative regulation of DNA-templated transcription (IEA)

positive regulation of stem cell differentiation (IEA)

positive regulation of transcription of nucleolar large rRNA by RNA polymerase I (IDA)

ribosome biogenesis (IEA)

rRNA processing (IEA)

Cellular Component

chromosome (IEA)

Golgi apparatus (IDA)

nucleolus (IDA,IEA)

nucleus (IBA,IEA,TAS)

Molecular Function

histone chaperone activity (IEA)

histone H4K20me3 reader activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7828893	PMID:8125298	PMID:8895530	PMID:11790298	PMID:11850830	PMID:12477932	PMID:12777385	PMID:15302935	PMID:15761153	PMID:16565220	PMID:17079684	PMID:17081983
PMID:19295130	PMID:20028516	PMID:20211142	PMID:21145461	PMID:21832049	PMID:21873635	PMID:22586326	PMID:23508102	PMID:23667531	PMID:24239288	PMID:24457600	PMID:24778252
PMID:24927181	PMID:24981860	PMID:25665578	PMID:25693804	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26725010	PMID:27049334	PMID:27926873	PMID:28380382	PMID:28514442
PMID:28515276	PMID:28611094	PMID:28675297	PMID:28695742	PMID:29065309	PMID:29298432	PMID:29395067	PMID:29509190	PMID:29513927	PMID:29568061	PMID:29802200	PMID:29845934
PMID:29911972	PMID:30033366	PMID:30196744	PMID:30209976	PMID:30344098	PMID:30463901	PMID:30471916	PMID:30581152	PMID:30884312	PMID:30940648	PMID:30948266	PMID:31253590
PMID:31343991	PMID:31527615	PMID:31586073	PMID:31973889	PMID:31980649	PMID:32707033	PMID:32780723	PMID:32807901	PMID:32994395	PMID:33301849	PMID:33306668	PMID:33355139
PMID:33472061	PMID:33742100	PMID:33961781	PMID:34244565	PMID:34373451	PMID:34591612	PMID:34709727	PMID:34732716	PMID:34767673	PMID:34917906	PMID:35013218	PMID:35140242
PMID:35256949	PMID:35271311	PMID:35384245	PMID:35509820	PMID:35652658	PMID:35819319	PMID:35833506	PMID:35850772	PMID:35915203	PMID:35944360	PMID:36159747	PMID:36215168
PMID:36243803	PMID:36244648	PMID:36273042	PMID:36526897	PMID:36912080	PMID:37167062	PMID:37267103	PMID:37689310	PMID:38113892	PMID:38177924	PMID:38697112	PMID:38777146
PMID:39066279	PMID:39501047

Genomics

Comparative Map Data

PWP1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	107,685,799 - 107,713,162 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	107,685,799 - 107,713,162 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	108,079,576 - 108,106,939 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	106,603,720 - 106,630,387 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	107,745,148 - 107,771,815 (+)	NCBI		Celera
Cytogenetic Map	12	q23.3	NCBI
HuRef	12	105,139,992 - 105,166,399 (+)	NCBI		HuRef
CHM1_1	12	108,045,562 - 108,072,208 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	107,649,292 - 107,676,654 (+)	NCBI		T2T-CHM13v2.0

Pwp1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	85,707,695 - 85,724,967 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	85,665,358 - 85,724,960 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	85,871,831 - 85,889,103 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	85,829,494 - 85,889,096 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	85,334,576 - 85,351,848 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	85,301,664 - 85,318,895 (+)	NCBI		MGSCv36	mm8
Celera	10	87,846,400 - 87,863,672 (+)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	41.73	NCBI

Pwp1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	19,870,465 - 19,886,463 (-)	NCBI		GRCr8
mRatBN7.2	7	17,982,730 - 17,998,728 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	17,982,235 - 17,998,731 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	19,944,886 - 19,960,878 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	22,107,256 - 22,123,255 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	21,884,528 - 21,900,521 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	23,988,776 - 24,004,774 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	23,988,776 - 24,004,774 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	24,138,856 - 24,154,854 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	20,120,919 - 20,136,917 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	20,134,743 - 20,150,979 (-)	NCBI
Celera	7	15,214,789 - 15,230,786 (-)	NCBI		Celera
Cytogenetic Map	7	q13	NCBI

Pwp1
(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_004955405	41,314,978 - 41,329,979 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955405	41,314,978 - 41,329,988 (+)	NCBI	ChiLan1.0	ChiLan1.0

PWP1
(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	10	115,744,264 - 115,771,046 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	115,740,682 - 115,767,443 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	105,255,755 - 105,282,519 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	108,652,024 - 108,679,503 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	108,652,024 - 108,679,503 (+)	Ensembl	panpan1.1		panPan2

PWP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	31,121,411 - 31,146,791 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	31,117,044 - 31,146,726 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	31,106,725 - 31,131,840 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	31,966,427 - 31,991,573 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	31,963,399 - 31,991,569 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	31,705,879 - 31,730,950 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	31,995,000 - 32,020,274 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	32,181,687 - 32,206,812 (-)	NCBI		UU_Cfam_GSD_1.0

Pwp1
(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_024404945	14,425,723 - 14,447,295 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	7,431,990 - 7,457,709 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	7,436,137 - 7,457,709 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PWP1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	12,701,589 - 12,730,849 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	12,703,067 - 12,730,884 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	12,488,889 - 12,517,518 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PWP1
(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	11	102,917,553 - 102,943,696 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	102,917,606 - 102,942,481 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	142,129,905 - 142,155,174 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pwp1
(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_004624750	2,103,469 - 2,119,166 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624750	2,103,530 - 2,119,088 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PWP1
25 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	copy number loss	See cases [RCV000050807]	Chr12:105234677..112194686 [GRCh38] Chr12:105628455..112632490 [GRCh37] Chr12:104152585..111116873 [NCBI36] Chr12:12q23.3-24.13	pathogenic
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1	copy number loss	See cases [RCV000051320]	Chr12:100670616..108583607 [GRCh38] Chr12:101064394..108977383 [GRCh37] Chr12:99588525..107501512 [NCBI36] Chr12:12q23.1-23.3	pathogenic
GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	copy number loss	See cases [RCV000138537]	Chr12:105644967..108994840 [GRCh38] Chr12:106038745..109432645 [GRCh37] Chr12:104562875..107917026 [NCBI36] Chr12:12q23.3-24.11	uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	copy number gain	See cases [RCV000142447]	Chr12:91044318..109133210 [GRCh38] Chr12:91438095..109571015 [GRCh37] Chr12:89962226..108055398 [NCBI36] Chr12:12q21.33-24.11	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	copy number loss	not provided [RCV001270637]	Chr12:107197584..109830564 [GRCh37] Chr12:12q23.3-24.11	uncertain significance
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1	copy number loss	See cases [RCV000445832]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely pathogenic
GRCh37/hg19 12q23.3(chr12:107404513-108108729)x3	copy number gain	See cases [RCV000447920]	Chr12:107404513..108108729 [GRCh37] Chr12:12q23.3	likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_007062.3(PWP1):c.824C>T (p.Ala275Val)	single nucleotide variant	not specified [RCV004319036]	Chr12:107702952 [GRCh38] Chr12:108096729 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q23.3(chr12:108086245-108296135)x3	copy number gain	not provided [RCV000738033]	Chr12:108086245..108296135 [GRCh37] Chr12:12q23.3	benign
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	copy number loss	not provided [RCV001259630]	Chr12:106498814..112252906 [GRCh37] Chr12:12q23.3-24.12	pathogenic
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	copy number loss	not provided [RCV001834231]	Chr12:104230462..111984801 [GRCh37] Chr12:12q23.3-24.12	pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	copy number loss	not specified [RCV002053016]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely pathogenic
NM_007062.3(PWP1):c.379G>T (p.Asp127Tyr)	single nucleotide variant	not specified [RCV004164703]	Chr12:107692873 [GRCh38] Chr12:108086650 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1492C>T (p.Pro498Ser)	single nucleotide variant	not provided [RCV004695742]\|not specified [RCV004222325]	Chr12:107712206 [GRCh38] Chr12:108105983 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1079C>T (p.Ala360Val)	single nucleotide variant	not specified [RCV004132063]	Chr12:107708927 [GRCh38] Chr12:108102704 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.571G>A (p.Val191Met)	single nucleotide variant	not specified [RCV004132989]	Chr12:107696542 [GRCh38] Chr12:108090319 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.476A>G (p.Gln159Arg)	single nucleotide variant	not specified [RCV004084042]	Chr12:107693070 [GRCh38] Chr12:108086847 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.741G>C (p.Lys247Asn)	single nucleotide variant	not specified [RCV004124051]	Chr12:107697594 [GRCh38] Chr12:108091371 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1006C>T (p.His336Tyr)	single nucleotide variant	not specified [RCV004160162]	Chr12:107704676 [GRCh38] Chr12:108098453 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1177C>G (p.Leu393Val)	single nucleotide variant	not specified [RCV004107016]	Chr12:107709119 [GRCh38] Chr12:108102896 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.835A>G (p.Asn279Asp)	single nucleotide variant	not specified [RCV004273278]	Chr12:107702963 [GRCh38] Chr12:108096740 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1319C>T (p.Pro440Leu)	single nucleotide variant	not specified [RCV004438256]	Chr12:107710433 [GRCh38] Chr12:108104210 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1391C>T (p.Ser464Phe)	single nucleotide variant	not specified [RCV004438257]	Chr12:107710505 [GRCh38] Chr12:108104282 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1060T>C (p.Ser354Pro)	single nucleotide variant	not specified [RCV004438255]	Chr12:107704730 [GRCh38] Chr12:108098507 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1019G>A (p.Arg340Gln)	single nucleotide variant	not specified [RCV004438254]	Chr12:107704689 [GRCh38] Chr12:108098466 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.253A>G (p.Arg85Gly)	single nucleotide variant	not specified [RCV004438260]	Chr12:107688736 [GRCh38] Chr12:108082513 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.1487A>G (p.Asp496Gly)	single nucleotide variant	not specified [RCV004438259]	Chr12:107712201 [GRCh38] Chr12:108105978 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.272A>G (p.Glu91Gly)	single nucleotide variant	not specified [RCV004662768]	Chr12:107688755 [GRCh38] Chr12:108082532 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.978G>T (p.Leu326Phe)	single nucleotide variant	not specified [RCV004662767]	Chr12:107704648 [GRCh38] Chr12:108098425 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.199C>T (p.Arg67Cys)	single nucleotide variant	not specified [RCV004662766]	Chr12:107688682 [GRCh38] Chr12:108082459 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh37/hg19 12q23.3(chr12:108069701-108943974)x3	copy number gain	not provided [RCV004819578]	Chr12:108069701..108943974 [GRCh37] Chr12:12q23.3	uncertain significance
GRCh37/hg19 12q23.3(chr12:106753459-108950630)x3	copy number gain	not provided [RCV004819577]	Chr12:106753459..108950630 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.364G>C (p.Gly122Arg)	single nucleotide variant	not specified [RCV004849603]	Chr12:107692858 [GRCh38] Chr12:108086635 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.356C>T (p.Thr119Met)	single nucleotide variant	not specified [RCV004849604]	Chr12:107692850 [GRCh38] Chr12:108086627 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.899A>G (p.Asp300Gly)	single nucleotide variant	not specified [RCV004849605]	Chr12:107703027 [GRCh38] Chr12:108096804 [GRCh37] Chr12:12q23.3	uncertain significance
NM_007062.3(PWP1):c.641C>T (p.Thr214Ile)	single nucleotide variant	not specified [RCV004849606]	Chr12:107697494 [GRCh38] Chr12:108091271 [GRCh37] Chr12:12q23.3	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	636
Count of miRNA genes:	475
Interacting mature miRNAs:	519
Transcripts:	ENST00000412830, ENST00000541166, ENST00000547120, ENST00000547995, ENST00000552760
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1559125	SPSL2_H	Serum P-selectin level QTL 2 (human)	2.59		Serum P-selectin level		12	89897665	115897665	Human
1298449	UAE2_H	Urinary albumin excretion QTL 2 (human)	2	0.005	Urinary albumin excretion	urine albumin:creatinine ratio (ACR)	12	102836889	128836889	Human
1643258	BW205_H	Body weight QTL 205 (human)	4.08	0.00001	Body fat amount	percent body fat	12	96630114	122630114	Human
1643452	BW104_H	Body weight QTL 104 (human)	1.89	0.005	Body fat amount	abdominal visceral	12	102395874	128395874	Human
1357361	BW37_H	Body weight QTL 37 (human)	4.08	0.00001	Body fat amount		12	102836889	116423339	Human
597240604	GWAS1336678_H	aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS1336678 (human)		7e-14	body fat mass (VT:0010482)	blood high density lipoprotein cholesterol level (CMO:0000052)	12	107696741	107696742	Human
597242111	GWAS1338185_H	body fat percentage QTL GWAS1338185 (human)		2e-16	body fat mass (VT:0010482)	body fat percentage (CMO:0000302)	12	107696741	107696742	Human
596979096	GWAS1098615_H	body height QTL GWAS1098615 (human)		5e-11	body height		12	107702755	107702756	Human
597129017	GWAS1225091_H	mental or behavioural disorder, substance abuse QTL GWAS1225091 (human)		0.000005	mental or behavioural disorder, substance abuse		12	107694127	107694128	Human
597184488	GWAS1280562_H	body mass index QTL GWAS1280562 (human)		2e-09	body mass index	body mass index (BMI) (CMO:0000105)	12	107696741	107696742	Human
1643264	BW195_H	Body weight QTL 195 (human)		0.0151	Body weight	BMI	12	89897665	115897665	Human
1357387	BW58_H	Body weight QTL 58 (human)	2.3	0.0001	Body weight	fat free mass after exercise training	12	89438856	115438856	Human
1358827	MULTSCL22_H	Multiple sclerosis susceptibility QTL 22 (human)			Multiple sclerosis susceptibility		12	89897665	115897665	Human

Markers in Region

D12S1163E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	108,105,895 - 108,106,130	UniSTS	GRCh37
Build 36	12	106,630,025 - 106,630,260	RGD	NCBI36
Celera	12	107,771,453 - 107,771,688	RGD
Cytogenetic Map	12	q23.3	UniSTS
HuRef	12	105,166,037 - 105,166,272	UniSTS

STS-L07758

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	108,106,044 - 108,106,187	UniSTS	GRCh37
Build 36	12	106,630,174 - 106,630,317	RGD	NCBI36
Celera	12	107,771,602 - 107,771,745	RGD
Cytogenetic Map	12	q23.3	UniSTS
HuRef	12	105,166,186 - 105,166,329	UniSTS
GeneMap99-GB4 RH Map	12	430.4	UniSTS

WI-7102

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	108,106,011 - 108,106,217	UniSTS	GRCh37
Build 36	12	106,630,141 - 106,630,347	RGD	NCBI36
Celera	12	107,771,569 - 107,771,775	RGD
Cytogenetic Map	12	q23.3	UniSTS
HuRef	12	105,166,153 - 105,166,359	UniSTS
Whitehead-YAC Contig Map	12		UniSTS

SHGC-57379

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	108,106,784 - 108,106,882	UniSTS	GRCh37
Build 36	12	106,630,914 - 106,631,012	RGD	NCBI36
Celera	12	107,772,342 - 107,772,440	RGD
HuRef	12	105,166,926 - 105,167,024	UniSTS
TNG Radiation Hybrid Map	12	53028.0	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	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001317962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001317963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_007062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC007622	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC046144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA449439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC380488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L07758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z36804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z36805	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000412830 ⟹ ENSP00000387365

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	107,685,799 - 107,713,162 (+)	Ensembl

Ensembl Acc Id:

ENST00000541166 ⟹ ENSP00000445249

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	107,686,042 - 107,712,412 (+)	Ensembl

Ensembl Acc Id:

ENST00000547120

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	107,692,683 - 107,697,584 (+)	Ensembl

Ensembl Acc Id:

ENST00000547995 ⟹ ENSP00000447770

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	107,685,808 - 107,693,075 (+)	Ensembl

Ensembl Acc Id:

ENST00000552760 ⟹ ENSP00000448227

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	107,685,802 - 107,697,578 (+)	Ensembl

RefSeq Acc Id:

NM_001317962 ⟹ NP_001304891

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	107,686,042 - 107,713,162 (+)	NCBI
CHM1_1	12	108,045,791 - 108,072,890 (+)	NCBI
T2T-CHM13v2.0	12	107,649,535 - 107,676,654 (+)	NCBI

Sequence:

show sequence

AACGTGGACCCGGAACTCGGGGCGTTGGCTGGTGCGACTGGCTGGGGTGAGGGCGGCTTTGCCC
GGATTGTCGCGACTAGAGCTGCAGTTCAGAAGGTAGAGCTGAGTAAAGAAGAAGTAAAACGCCT
CATTGCTGAGGCAAAGGAGAAATTGCAAGAAGAAGGTGGTGGCAGTGATGAAGAGGAGACAGGC
AGTCCTTCAGAAGATGGCATGCAGAGTGCACGCACCCAGGCACGCCCAAGAGAGCCCCTGGAGG
ATGGTGACCCAGAGGATGACAGGACGCTTGATGATGATGAGCTGGCTGAGTACGACTTAGATAA
ATATGATGAGGAAGGTGACCCAGATGCTGAGACTCTTGGTGAATCTCTCTTGGGTCTTACGGTC
TACGGGAGTAATGATCAAGATCCTTACGTTACTCTGAAAGATACAGAACAATATGAACGTGAAG
ATTTCTTGATTAAGCCCAGTGATAATCTTATAGTTTGTGGCCGAGCTGAACAGGACCAGTGCAA
TTTAGAGGTGCATGTTTATAATCAAGAAGAAGACTCTTTTTATGTACACCATGATATACTCTTG
TCTGCATATCCTCTGAGTGTGGAATGGCTGAATTTTGATCCTAGCCCAGATGATTCTACTGGAA
ATTACATTGCTGTAGGAAACATGACCCCTGTTATTGAAGTGTGGGACCTTGATATAGTGGACTC
TTTAGAGCCAGTCTTCACACTCGGAAGTAAACTTTCAAAAAAGAAGAAAAAGAAAGGAAAGAAG
AGTTCCTCAGCAGAAGGGCATACCGATGCTGTCCTTGACCTTTCATGGAATAAGCTAATCAGAA
ATGTTTTAGCAAGTGCATCAGCTGACAACACTGTAATTCTGTGGGATATGTCCTTGGGGAAACC
AGCAGCTAGCCTCGCTGTACACACAGACAAGGTCCAAACACTGCAGTTTCATCCATTTGAAGCA
CAGACTCTGATTTCTGGCTCATATGATAAGTCAGTGGCTTTGTATGACTGCCGAAGTCCAGATG
AAAGCCATCGAATGTGGCGATTCAGTGGGCAGATAGAGAGAGTGACTTGGAATCACTTTTCACC
TTGTCATTTCTTGGCCAGTACAGATGACGGCTTTGTATATAATTTGGATGCACGTTCAGATAAG
CCAATTTTTACACTTAATGCACACAATGATGAAATCTCTGGTCTTGATCTTAGCAGTCAAATCA
AGGGCTGTCTCGTGACTGCTTCAGCTGACAAATACGTGAAGATCTGGGACATCTTAGGAGATAG
GCCAAGTCTAGTTCATTCTAGGGACATGAAAATGGGAGTTCTCTTCTGTTCTTCATGTTGCCCT
GATTTGCCATTTATTTATGCCTTTGGAGGTCAAAAAGAAGGGCTTCGGGTCTGGGATATAAGCA
CAGTCTCTTCAGTAAATGAAGCATTTGGAAGACGAGAGAGGCTTGTTCTTGGGAGTGCAAGAAA
TTCATCTATTAGTGGCCCTTTTGGCAGCAGGAGCTCAGATACACCCATGGAGTCTTAATGAAGA
TCATCTAATTTCCTGCTTACCTTAACTGGGAATTTTAAAAAGTTGGCCTAAAAATGTTCCATGC
GTGGCAGCAACCATGCAGAGTGACTGAAACACAATTCATTTCTGACTGACATTCCTTTCTGCAA
CTGCGGTGGCACCACAAATATCCGGTCTTTGTGCTTGCTCTTCAGATGGATGGTTTGTAAGGCT
CTTGTTGCATTTCTTAAAAAAGAGTAATAAAAAGGATTTTTAAAAAGTAATTCCTTAAACATAC
CATCTGTCACAGTTAATCTAGATTTGTAAATAGGTAGTAATTTATAGAATTTTTAAAGCGTAAA
ATCCGGTAATATTAAAAGATAGGTAAACCTAGGCCTGGAAAGGCTGTTATTTGGCTAAAATTGC
ACAGGAGGCCATGAACAGAGGCAAGTGCCCCAGAGACTCCACTTTCATTCCTAACTGTTCTCAA
ATTAATGCTCATGATTGAGTATTCTCAGTGCAACTCGTAGAGTTTGATAAGTAAAAGTTACATG
CCCCTGTTTTCCTAGCATGATATTCACTGTTATCAAAGACAAGAGGCAGACCATTCATTCATTC
TCAAAACACTGAATGCCATTCTGTGCCTAGTGCTATACAAGGCATGGGAGATTCAGTGTGAATA
AGTCTTTGCTCTCCACCTAACAAGGGACAGTTTTAATTATAGATTGTCTTCCTATTAAGTATGA
GTTTTAGTAGGCATTAAAAATCGTAATTAGTTTGATAATATGAGACCCAACCCTAACTTGCCAG
AAGAGTAATCAGTTCATGAACCATTGATATTTCCTGTATATTTCATGAATGTGACTTCAGTCAT
TCTAGTGTTAATACTGTGGAATGTCATTGGTGTAGCAACGTGGGTTCACCAAAACACCTTTTTA
TACAAAAGACAGATGTGTGAATTAAAGAGATTAAAGGATA

hide sequence

RefSeq Acc Id:

NM_001317963 ⟹ NP_001304892

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	107,685,799 - 107,713,162 (+)	NCBI
CHM1_1	12	108,045,481 - 108,072,890 (+)	NCBI
T2T-CHM13v2.0	12	107,649,292 - 107,676,654 (+)	NCBI

Sequence:

show sequence

AGCGGCCCTGTGCAGATCCCTGAGCGTGTGGCAGCAGTGCGGTCGTGGTCCCTCCCTATGCAGC
CTGGTTTCTAGCGTGACACGCCCTTGACTTGAGGACCATGAACCGCAGCCGCCAGGTGACGTGC
GTGGCCTGGGTCCGCTGCGGCGTGGCCAAAGAGACACCAGACAAGGTAGAGCTGAGTAAAGAAG
AAGTAAAACGCCTCATTGCTGAGGCAAAGGAGAAATTGCAAGAAGAAGGTGGTGGCAGTGATGA
AGAGGAGACAGGCAGTCCTTCAGAAGATGGCATGCAGAGTGCACGCACCCAGGCACGCCCAAGA
GAGCCCCTGGAGGATGGTGACCCAGAGGATGACAGGACGCTTGATGATGATGAGCTGGCTGAGT
ACGACTTAGATAAATATGATGAGGAAGGTGACCCAGATGCTGAGACTCTTGGTGAATCTCTCTT
GGGTCTTACGGTCTACGGGAGTAATGATCAAGATCCTTACGTTACTCTGAAAGATACATCAATG
ACATTTTTTTCCTCTCACTTAGGAACAATATGAACGTGAAGATTTCTTGATTAAGCCCAGTGAT
AATCTTATAGTTTGTGGCCGAGCTGAACAGGACCAGTGCAATTTAGAGGTGCATGTTTATAATC
AAGAAGAAGACTCTTTTTATGTACACCATGATATACTCTTGTCTGCATATCCTCTGAGTGTGGA
ATGGCTGAATTTTGATCCTAGCCCAGATGATTCTACTGGAAATTACATTGCTGTAGGAAACATG
ACCCCTGTTATTGAAGTGTGGGACCTTGATATAGTGGACTCTTTAGAGCCAGTCTTCACACTCG
GAAGTAAACTTTCAAAAAAGAAGAAAAAGAAAGGAAAGAAGAGTTCCTCAGCAGAAGGGCATAC
CGATGCTGTCCTTGACCTTTCATGGAATAAGCTAATCAGAAATGTTTTAGCAAGTGCATCAGCT
GACAACACTGTAATTCTGTGGGATATGTCCTTGGGGAAACCAGCAGCTAGCCTCGCTGTACACA
CAGACAAGGTCCAAACACTGCAGTTTCATCCATTTGAAGCACAGACTCTGATTTCTGGCTCATA
TGATAAGTCAGTGGCTTTGTATGACTGCCGAAGTCCAGATGAAAGCCATCGAATGTGGCGATTC
AGTGGGCAGATAGAGAGAGTGACTTGGAATCACTTTTCACCTTGTCATTTCTTGGCCAGTACAG
ATGACGGCTTTGTATATAATTTGGATGCACGTTCAGATAAGCCAATTTTTACACTTAATGCACA
CAATGATGAAATCTCTGGTCTTGATCTTAGCAGTCAAATCAAGGGCTGTCTCGTGACTGCTTCA
GCTGACAAATACGTGAAGATCTGGGACATCTTAGGAGATAGGCCAAGTCTAGTTCATTCTAGGG
ACATGAAAATGGGAGTTCTCTTCTGTTCTTCATGTTGCCCTGATTTGCCATTTATTTATGCCTT
TGGAGGTCAAAAAGAAGGGCTTCGGGTCTGGGATATAAGCACAGTCTCTTCAGTAAATGAAGCA
TTTGGAAGACGAGAGAGGCTTGTTCTTGGGAGTGCAAGAAATTCATCTATTAGTGGCCCTTTTG
GCAGCAGGAGCTCAGATACACCCATGGAGTCTTAATGAAGATCATCTAATTTCCTGCTTACCTT
AACTGGGAATTTTAAAAAGTTGGCCTAAAAATGTTCCATGCGTGGCAGCAACCATGCAGAGTGA
CTGAAACACAATTCATTTCTGACTGACATTCCTTTCTGCAACTGCGGTGGCACCACAAATATCC
GGTCTTTGTGCTTGCTCTTCAGATGGATGGTTTGTAAGGCTCTTGTTGCATTTCTTAAAAAAGA
GTAATAAAAAGGATTTTTAAAAAGTAATTCCTTAAACATACCATCTGTCACAGTTAATCTAGAT
TTGTAAATAGGTAGTAATTTATAGAATTTTTAAAGCGTAAAATCCGGTAATATTAAAAGATAGG
TAAACCTAGGCCTGGAAAGGCTGTTATTTGGCTAAAATTGCACAGGAGGCCATGAACAGAGGCA
AGTGCCCCAGAGACTCCACTTTCATTCCTAACTGTTCTCAAATTAATGCTCATGATTGAGTATT
CTCAGTGCAACTCGTAGAGTTTGATAAGTAAAAGTTACATGCCCCTGTTTTCCTAGCATGATAT
TCACTGTTATCAAAGACAAGAGGCAGACCATTCATTCATTCTCAAAACACTGAATGCCATTCTG
TGCCTAGTGCTATACAAGGCATGGGAGATTCAGTGTGAATAAGTCTTTGCTCTCCACCTAACAA
GGGACAGTTTTAATTATAGATTGTCTTCCTATTAAGTATGAGTTTTAGTAGGCATTAAAAATCG
TAATTAGTTTGATAATATGAGACCCAACCCTAACTTGCCAGAAGAGTAATCAGTTCATGAACCA
TTGATATTTCCTGTATATTTCATGAATGTGACTTCAGTCATTCTAGTGTTAATACTGTGGAATG
TCATTGGTGTAGCAACGTGGGTTCACCAAAACACCTTTTTATACAAAAGACAGATGTGTGAATT
AAAGAGATTAAAGGATA

hide sequence

RefSeq Acc Id:

NM_007062 ⟹ NP_008993

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	107,685,799 - 107,713,162 (+)	NCBI
GRCh37	12	108,079,590 - 108,106,257 (+)	RGD
Build 36	12	106,603,720 - 106,630,387 (+)	NCBI Archive
Celera	12	107,745,148 - 107,771,815 (+)	RGD
HuRef	12	105,139,992 - 105,166,399 (+)	ENTREZGENE
CHM1_1	12	108,045,481 - 108,072,890 (+)	NCBI
T2T-CHM13v2.0	12	107,649,292 - 107,676,654 (+)	NCBI

Sequence:

show sequence

AGCGGCCCTGTGCAGATCCCTGAGCGTGTGGCAGCAGTGCGGTCGTGGTCCCTCCCTATGCAGC
CTGGTTTCTAGCGTGACACGCCCTTGACTTGAGGACCATGAACCGCAGCCGCCAGGTGACGTGC
GTGGCCTGGGTCCGCTGCGGCGTGGCCAAAGAGACACCAGACAAGGTAGAGCTGAGTAAAGAAG
AAGTAAAACGCCTCATTGCTGAGGCAAAGGAGAAATTGCAAGAAGAAGGTGGTGGCAGTGATGA
AGAGGAGACAGGCAGTCCTTCAGAAGATGGCATGCAGAGTGCACGCACCCAGGCACGCCCAAGA
GAGCCCCTGGAGGATGGTGACCCAGAGGATGACAGGACGCTTGATGATGATGAGCTGGCTGAGT
ACGACTTAGATAAATATGATGAGGAAGGTGACCCAGATGCTGAGACTCTTGGTGAATCTCTCTT
GGGTCTTACGGTCTACGGGAGTAATGATCAAGATCCTTACGTTACTCTGAAAGATACAGAACAA
TATGAACGTGAAGATTTCTTGATTAAGCCCAGTGATAATCTTATAGTTTGTGGCCGAGCTGAAC
AGGACCAGTGCAATTTAGAGGTGCATGTTTATAATCAAGAAGAAGACTCTTTTTATGTACACCA
TGATATACTCTTGTCTGCATATCCTCTGAGTGTGGAATGGCTGAATTTTGATCCTAGCCCAGAT
GATTCTACTGGAAATTACATTGCTGTAGGAAACATGACCCCTGTTATTGAAGTGTGGGACCTTG
ATATAGTGGACTCTTTAGAGCCAGTCTTCACACTCGGAAGTAAACTTTCAAAAAAGAAGAAAAA
GAAAGGAAAGAAGAGTTCCTCAGCAGAAGGGCATACCGATGCTGTCCTTGACCTTTCATGGAAT
AAGCTAATCAGAAATGTTTTAGCAAGTGCATCAGCTGACAACACTGTAATTCTGTGGGATATGT
CCTTGGGGAAACCAGCAGCTAGCCTCGCTGTACACACAGACAAGGTCCAAACACTGCAGTTTCA
TCCATTTGAAGCACAGACTCTGATTTCTGGCTCATATGATAAGTCAGTGGCTTTGTATGACTGC
CGAAGTCCAGATGAAAGCCATCGAATGTGGCGATTCAGTGGGCAGATAGAGAGAGTGACTTGGA
ATCACTTTTCACCTTGTCATTTCTTGGCCAGTACAGATGACGGCTTTGTATATAATTTGGATGC
ACGTTCAGATAAGCCAATTTTTACACTTAATGCACACAATGATGAAATCTCTGGTCTTGATCTT
AGCAGTCAAATCAAGGGCTGTCTCGTGACTGCTTCAGCTGACAAATACGTGAAGATCTGGGACA
TCTTAGGAGATAGGCCAAGTCTAGTTCATTCTAGGGACATGAAAATGGGAGTTCTCTTCTGTTC
TTCATGTTGCCCTGATTTGCCATTTATTTATGCCTTTGGAGGTCAAAAAGAAGGGCTTCGGGTC
TGGGATATAAGCACAGTCTCTTCAGTAAATGAAGCATTTGGAAGACGAGAGAGGCTTGTTCTTG
GGAGTGCAAGAAATTCATCTATTAGTGGCCCTTTTGGCAGCAGGAGCTCAGATACACCCATGGA
GTCTTAATGAAGATCATCTAATTTCCTGCTTACCTTAACTGGGAATTTTAAAAAGTTGGCCTAA
AAATGTTCCATGCGTGGCAGCAACCATGCAGAGTGACTGAAACACAATTCATTTCTGACTGACA
TTCCTTTCTGCAACTGCGGTGGCACCACAAATATCCGGTCTTTGTGCTTGCTCTTCAGATGGAT
GGTTTGTAAGGCTCTTGTTGCATTTCTTAAAAAAGAGTAATAAAAAGGATTTTTAAAAAGTAAT
TCCTTAAACATACCATCTGTCACAGTTAATCTAGATTTGTAAATAGGTAGTAATTTATAGAATT
TTTAAAGCGTAAAATCCGGTAATATTAAAAGATAGGTAAACCTAGGCCTGGAAAGGCTGTTATT
TGGCTAAAATTGCACAGGAGGCCATGAACAGAGGCAAGTGCCCCAGAGACTCCACTTTCATTCC
TAACTGTTCTCAAATTAATGCTCATGATTGAGTATTCTCAGTGCAACTCGTAGAGTTTGATAAG
TAAAAGTTACATGCCCCTGTTTTCCTAGCATGATATTCACTGTTATCAAAGACAAGAGGCAGAC
CATTCATTCATTCTCAAAACACTGAATGCCATTCTGTGCCTAGTGCTATACAAGGCATGGGAGA
TTCAGTGTGAATAAGTCTTTGCTCTCCACCTAACAAGGGACAGTTTTAATTATAGATTGTCTTC
CTATTAAGTATGAGTTTTAGTAGGCATTAAAAATCGTAATTAGTTTGATAATATGAGACCCAAC
CCTAACTTGCCAGAAGAGTAATCAGTTCATGAACCATTGATATTTCCTGTATATTTCATGAATG
TGACTTCAGTCATTCTAGTGTTAATACTGTGGAATGTCATTGGTGTAGCAACGTGGGTTCACCA
AAACACCTTTTTATACAAAAGACAGATGTGTGAATTAAAGAGATTAAAGGATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001304891	(Get FASTA)	NCBI Sequence Viewer
	NP_001304892	(Get FASTA)	NCBI Sequence Viewer
	NP_008993	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA65201	(Get FASTA)	NCBI Sequence Viewer
	AAH00067	(Get FASTA)	NCBI Sequence Viewer
	AAH01652	(Get FASTA)	NCBI Sequence Viewer
	AAH10921	(Get FASTA)	NCBI Sequence Viewer
	AAH32127	(Get FASTA)	NCBI Sequence Viewer
	AAH40135	(Get FASTA)	NCBI Sequence Viewer
	AAH46144	(Get FASTA)	NCBI Sequence Viewer
	BAD96882	(Get FASTA)	NCBI Sequence Viewer
	BAF83370	(Get FASTA)	NCBI Sequence Viewer
	BAG58967	(Get FASTA)	NCBI Sequence Viewer
	BAG60273	(Get FASTA)	NCBI Sequence Viewer
	EAW97802	(Get FASTA)	NCBI Sequence Viewer
	EAW97803	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000387365
	ENSP00000387365.3
	ENSP00000445249
	ENSP00000445249.1
	ENSP00000447770.1
	ENSP00000448227.1
GenBank Protein	Q13610	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_008993 ⟸ NM_007062
- Peptide Label:	isoform 1
- UniProtKB:	A8K3R6 (UniProtKB/Swiss-Prot), Q7Z3X9 (UniProtKB/Swiss-Prot), Q13610 (UniProtKB/Swiss-Prot), Q53FW9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNRSRQVTCVAWVRCGVAKETPDKVELSKEEVKRLIAEAKEKLQEEGGGSDEEETGSPSEDGMQ SARTQARPREPLEDGDPEDDRTLDDDELAEYDLDKYDEEGDPDAETLGESLLGLTVYGSNDQDP YVTLKDTEQYEREDFLIKPSDNLIVCGRAEQDQCNLEVHVYNQEEDSFYVHHDILLSAYPLSVE WLNFDPSPDDSTGNYIAVGNMTPVIEVWDLDIVDSLEPVFTLGSKLSKKKKKKGKKSSSAEGHT DAVLDLSWNKLIRNVLASASADNTVILWDMSLGKPAASLAVHTDKVQTLQFHPFEAQTLISGSY DKSVALYDCRSPDESHRMWRFSGQIERVTWNHFSPCHFLASTDDGFVYNLDARSDKPIFTLNAH NDEISGLDLSSQIKGCLVTASADKYVKIWDILGDRPSLVHSRDMKMGVLFCSSCCPDLPFIYAF GGQKEGLRVWDISTVSSVNEAFGRRERLVLGSARNSSISGPFGSRSSDTPMES hide sequence

RefSeq Acc Id:	NP_001304892 ⟸ NM_001317963
- Peptide Label:	isoform 3
- UniProtKB:	Q13610 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTPVIEVWDLDIVDSLEPVFTLGSKLSKKKKKKGKKSSSAEGHTDAVLDLSWNKLIRNVLASAS ADNTVILWDMSLGKPAASLAVHTDKVQTLQFHPFEAQTLISGSYDKSVALYDCRSPDESHRMWR FSGQIERVTWNHFSPCHFLASTDDGFVYNLDARSDKPIFTLNAHNDEISGLDLSSQIKGCLVTA SADKYVKIWDILGDRPSLVHSRDMKMGVLFCSSCCPDLPFIYAFGGQKEGLRVWDISTVSSVNE AFGRRERLVLGSARNSSISGPFGSRSSDTPMES hide sequence

RefSeq Acc Id:	NP_001304891 ⟸ NM_001317962
- Peptide Label:	isoform 2
- UniProtKB:	B4DJV5 (UniProtKB/TrEMBL), Q53FW9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQSARTQARPREPLEDGDPEDDRTLDDDELAEYDLDKYDEEGDPDAETLGESLLGLTVYGSNDQ DPYVTLKDTEQYEREDFLIKPSDNLIVCGRAEQDQCNLEVHVYNQEEDSFYVHHDILLSAYPLS VEWLNFDPSPDDSTGNYIAVGNMTPVIEVWDLDIVDSLEPVFTLGSKLSKKKKKKGKKSSSAEG HTDAVLDLSWNKLIRNVLASASADNTVILWDMSLGKPAASLAVHTDKVQTLQFHPFEAQTLISG SYDKSVALYDCRSPDESHRMWRFSGQIERVTWNHFSPCHFLASTDDGFVYNLDARSDKPIFTLN AHNDEISGLDLSSQIKGCLVTASADKYVKIWDILGDRPSLVHSRDMKMGVLFCSSCCPDLPFIY AFGGQKEGLRVWDISTVSSVNEAFGRRERLVLGSARNSSISGPFGSRSSDTPMES hide sequence

Ensembl Acc Id:

ENSP00000445249 ⟸ ENST00000541166

Ensembl Acc Id:

ENSP00000387365 ⟸ ENST00000412830

Ensembl Acc Id:

ENSP00000447770 ⟸ ENST00000547995

Ensembl Acc Id:

ENSP00000448227 ⟸ ENST00000552760

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q13610-F1-model_v2	AlphaFold	Q13610	1-501	view protein structure

Promoters

RGD ID:

6790407

Promoter ID:

HG_KWN:16557

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:

NM_007062, UC001TMN.1, UC009ZUU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	106,602,946 - 106,603,882 (+)	MPROMDB

RGD ID:

6851216

Promoter ID:

EP73405

Type:

initiation region

Name:

HS_PWP1

Description:

Nuclear phosphoprotein similar to S. cerevisiae PWP1.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	106,603,689 - 106,603,749	EPD

RGD ID:

7225291

Promoter ID:

EPDNEW_H18391

Type:

initiation region

Name:

PWP1_1

Description:

PWP1 homolog, endonuclein

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	12	107,685,810 - 107,685,870	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17015	AgrOrtholog
COSMIC	PWP1	COSMIC
Ensembl Genes	ENSG00000136045	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000412830	ENTREZGENE
	ENST00000412830.8	UniProtKB/Swiss-Prot
	ENST00000541166	ENTREZGENE
	ENST00000541166.1	UniProtKB/TrEMBL
	ENST00000547995.5	UniProtKB/TrEMBL
	ENST00000552760.5	UniProtKB/Swiss-Prot
Gene3D-CATH	2.130.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000136045	GTEx
HGNC ID	HGNC:17015	ENTREZGENE
Human Proteome Map	PWP1	Human Proteome Map
InterPro	G-protein_beta_WD-40_rep	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PWP1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40/YVTN_repeat-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40_repeat_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD40_repeat_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:11137	UniProtKB/Swiss-Prot
NCBI Gene	11137	ENTREZGENE
OMIM	620055	OMIM
PANTHER	PERIODIC TRYPTOPHAN PROTEIN 1 HOMOLOG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR14091	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	WD40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142671112	PharmGKB
PRINTS	GPROTEINBRPT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	WD_REPEATS_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD_REPEATS_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WD_REPEATS_REGION	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	WD40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50978	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K3R6	ENTREZGENE
	B4DJV5	ENTREZGENE, UniProtKB/TrEMBL
	F8VZ56_HUMAN	UniProtKB/TrEMBL
	PWP1_HUMAN	UniProtKB/Swiss-Prot
	Q05BL3_HUMAN	UniProtKB/TrEMBL
	Q13610	ENTREZGENE
	Q53FW9	ENTREZGENE, UniProtKB/TrEMBL
	Q6PIN4_HUMAN	UniProtKB/TrEMBL
	Q6PKI5_HUMAN	UniProtKB/TrEMBL
	Q7Z3X9	ENTREZGENE
	Q86X79_HUMAN	UniProtKB/TrEMBL
	Q9BV37_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A8K3R6	UniProtKB/Swiss-Prot
	Q7Z3X9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-07-14	PWP1	PWP1 homolog, endonuclein		PWP1 homolog (S. cerevisiae)	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)

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