Psenen (presenilin enhancer, gamma-secretase subunit)

Gene: Psenen (presenilin enhancer, gamma-secretase subunit) Ictidomys tridecemlineatus

Analyze

Symbol:

Psenen

Name:

presenilin enhancer, gamma-secretase subunit

RGD ID:

12618531

Description:

ENCODES a protein that exhibits endopeptidase activator activity (inferred); enzyme binding (inferred); INVOLVED IN Notch receptor processing (ortholog); PARTICIPATES IN Notch signaling pathway; syndecan signaling pathway; ASSOCIATED WITH Brugada syndrome 5 (ortholog); dystonia (ortholog); Familial Acne Inversa 2 (ortholog); FOUND IN gamma-secretase complex (ortholog); presynaptic membrane (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

gamma-secretase subunit PEN-2; presenilin enhancer 2 homolog; presenilin enhancer gamma-secretase subunit; presenilin enhancer gamma-secretase subunit, transcript variant X1; presenilin enhancer gamma-secretase subunit, transcript variant X2

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	11,067,846 - 11,069,160 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936570	576,722 - 578,010 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936570	576,722 - 578,022 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Brugada syndrome 5 (ISO)

dystonia (ISO)

Familial Acne Inversa 2 (ISO)

Familial Hidradenitis Suppurativa (ISO)

genetic disease (ISO)

hereditary spastic paraplegia 75 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amyloid precursor protein catabolic process (IEA)

amyloid precursor protein metabolic process (IEA)

amyloid-beta formation (IEA)

membrane protein ectodomain proteolysis (IEA)

membrane protein intracellular domain proteolysis (IEA)

Notch receptor processing (IEA,ISO)

Notch signaling pathway (IEA)

protein processing (IEA)

Cellular Component

endoplasmic reticulum (IEA)

gamma-secretase complex (IEA,ISO)

Golgi apparatus (IEA)

Golgi cisterna membrane (IEA)

membrane (IEA)

plasma membrane (IEA)

presynaptic membrane (ISO)

Molecular Function

endopeptidase activator activity (IEA)

enzyme binding (IEA)

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

Notch signaling pathway (ISO)

syndecan signaling pathway (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Psenen
(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_024409349	11,067,846 - 11,069,160 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936570	576,722 - 578,010 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936570	576,722 - 578,022 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PSENEN
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	35,745,651 - 35,747,519 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	35,745,600 - 35,747,519 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	36,236,552 - 36,238,420 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	40,928,334 - 40,929,743 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	40,928,333 - 40,929,743	NCBI
Celera	19	32,949,971 - 32,951,380 (+)	NCBI		Celera
Cytogenetic Map	19	q13.12	NCBI
HuRef	19	32,741,466 - 32,743,044 (+)	NCBI		HuRef
CHM1_1	19	36,237,788 - 36,239,366 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	38,290,961 - 38,292,828 (+)	NCBI		T2T-CHM13v2.0

Psenen
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	30,261,290 - 30,263,052 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	30,261,288 - 30,263,052 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	30,561,865 - 30,563,627 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	30,561,863 - 30,563,627 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	31,346,884 - 31,348,203 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	30,270,625 - 30,271,944 (-)	NCBI		MGSCv36	mm8
Celera	7	25,153,627 - 25,154,945 (-)	NCBI		Celera
Cytogenetic Map	7	B1	NCBI
cM Map	7	18.6	NCBI

Psenen
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	94,942,348 - 94,943,545 (-)	NCBI		GRCr8
mRatBN7.2	1	85,814,905 - 85,816,654 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	85,814,905 - 85,816,192 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	91,231,624 - 91,232,834 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	99,697,789 - 99,698,999 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	92,989,904 - 92,991,115 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	89,016,093 - 89,017,449 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	89,016,096 - 89,017,290 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	90,170,908 - 90,172,275 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	85,607,051 - 85,608,248 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	85,685,281 - 85,686,137 (-)	NCBI
Celera	1	80,186,425 - 80,187,622 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Psenen
(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_004955468	2,805,153 - 2,806,573 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955468	2,805,153 - 2,806,573 (-)	NCBI	ChiLan1.0	ChiLan1.0

PSENEN
(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	20	41,739,832 - 41,741,270 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	43,725,157 - 43,726,595 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	32,675,331 - 32,677,285 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	41,409,662 - 41,411,089 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	41,409,662 - 41,411,089 (+)	Ensembl	panpan1.1		panPan2

PSENEN
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	116,887,155 - 116,888,444 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	116,886,972 - 116,888,458 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	116,292,416 - 116,293,705 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	117,490,131 - 117,491,420 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	117,489,948 - 117,491,434 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	117,053,507 - 117,054,796 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	116,677,128 - 116,678,417 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	117,732,508 - 117,733,796 (-)	NCBI		UU_Cfam_GSD_1.0

PSENEN
(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	45,171,825 - 45,174,102 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	45,171,825 - 45,174,112 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	40,627,906 - 40,629,565 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PSENEN
(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	6	30,655,162 - 30,656,587 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	30,655,243 - 30,656,584 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	8,446,437 - 8,447,968 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Psenen
(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_004624794	10,053,114 - 10,054,411 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624794	10,053,085 - 10,054,411 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005330581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005330582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010004409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000026952 ⟹ ENSSTOP00000018355

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936570	576,860 - 577,651 (-)	Ensembl

RefSeq Acc Id:

ENSSTOT00000039829 ⟹ ENSSTOP00000026270

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936570	576,722 - 578,010 (-)	Ensembl

RefSeq Acc Id:

XM_005330581 ⟹ XP_005330638

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024409349	11,067,846 - 11,069,160 (+)	NCBI
SpeTri2.0	NW_004936570	576,722 - 578,022 (-)	NCBI

Sequence:

show sequence

AAACACCGCCGGGAGGTTCCTGAATGCGCATGCGTACAGCGTTTCCTCTCCAAAAAGAAAGAAC
TACAAACTCCAGCGAAACCTGCGGCACCTCTCGCAAACGTCCGTAGTTGAAAATACCAAAGGCA
TCCAAGGGGCGTGGCTGTTCGTGATCTCTGCATCTGTTACTTGGGTCTTGCCCCGCAGACCCTT
AAGAGGACCCGGTCTAGCGCAAATATGAACTTGGAGAGGGTGTCCAATGAGGAGAAGTTAAACC
TGTGCCGGAAGTACTACTTGGGTGGGTTCGCGTTCCTGCCTTTTCTGTGGTTGGTCAACATCTT
CTGGTTTTTCCGAGAGGCGTTCCTCGCCCCAGCCTACACAGAGCAGAGCCAAATCAAAGGCTAT
GTCTGGCGCTCAGCTGTGGGCTTCCTCTTCTGGGTGATTGTGCTCACCACCTGGATCACCATCT
TCCAGATCTACCGGCCCCGCTGGGGTGCCCTTGGAGACTACCTTTCCTTTACTATACCCTTGGG
CACTCCCTGACAACTTCTCCACAGCCTGGGGACCTGATTTCTCCCTGGATGGGCTCCTCTGTTT
TAAGTTCACTTTCAAGCCCCAAAGACATGTGTCCATCACCTGTCATCTCTGTTGACATCCCCAA
TAAATAACCCTAACTTTTGA

hide sequence

RefSeq Acc Id:

XM_005330582 ⟹ XP_005330639

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024409349	11,067,875 - 11,069,160 (+)	NCBI
SpeTri2.0	NW_004936570	576,722 - 578,022 (-)	NCBI

Sequence:

show sequence

AAACACCGCCGGGAGGTTCCTGAATGCGCATGCGTACAGCGTTTCCTCTCCAAAAAGAAAGAAC
TACAAACTCCAGCGAAACCTGCGGCACCTCTCGCAAACGTCCGTAGTTGAAAATACCAAAGGCA
TCCAAGGTAAAGGAAATAAAACTCCACTGGGGCGTGGCTGTTCGTGATCTCTGCATCTGTTACT
TGGGTCTTGCCCCGCAGACCCTTAAGAGGACCCGGTCTAGCGCAAATATGAACTTGGAGAGGGT
GTCCAATGAGGAGAAGTTAAACCTGTGCCGGAAGTACTACTTGGGTGGGTTCGCGTTCCTGCCT
TTTCTGTGGTTGGTCAACATCTTCTGGTTTTTCCGAGAGGCGTTCCTCGCCCCAGCCTACACAG
AGCAGAGCCAAATCAAAGGCTATGTCTGGCGCTCAGCTGTGGGCTTCCTCTTCTGGGTGATTGT
GCTCACCACCTGGATCACCATCTTCCAGATCTACCGGCCCCGCTGGGGTGCCCTTGGAGACTAC
CTTTCCTTTACTATACCCTTGGGCACTCCCTGACAACTTCTCCACAGCCTGGGGACCTGATTTC
TCCCTGGATGGGCTCCTCTGTTTTAAGTTCACTTTCAAGCCCCAAAGACATGTGTCCATCACCT
GTCATCTCTGTTGACATCCCCAATAAATAACCCTAACTTTTGA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005330638	(Get FASTA)	NCBI Sequence Viewer
	XP_005330639	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000018355.2
	ENSSTOP00000026270.1
GenBank Protein	KAG3255870	(Get FASTA)	NCBI Sequence Viewer
	KAG3255871	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_005330638 ⟸ XM_005330581
- UniProtKB:	A0A287CY61 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLAPAYTEQSQIKGYVWRSAVGF LFWVIVLTTWITIFQIYRPRWGALGDYLSFTIPLGTP hide sequence

RefSeq Acc Id:	XP_005330639 ⟸ XM_005330582
- UniProtKB:	A0A287CY61 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLAPAYTEQSQIKGYVWRSAVGF LFWVIVLTTWITIFQIYRPRWGALGDYLSFTIPLGTP hide sequence

RefSeq Acc Id:

ENSSTOP00000026270 ⟸ ENSSTOT00000039829

RefSeq Acc Id:

ENSSTOP00000018355 ⟸ ENSSTOT00000026952

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000024185	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000026952.2	UniProtKB/TrEMBL
	ENSSTOT00000039829.1	UniProtKB/TrEMBL
InterPro	Gamma_Secretase_Asp_P_PEN2	UniProtKB/TrEMBL
NCBI Gene	Psenen	ENTREZGENE
PANTHER	GAMMA-SECRETASE SUBUNIT PEN-2	UniProtKB/TrEMBL
	PTHR16318	UniProtKB/TrEMBL
Pfam	PEN-2	UniProtKB/TrEMBL
UniProt	A0A287CY61	ENTREZGENE, UniProtKB/TrEMBL
	I3N1V9_ICTTR	UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-05-01	Psenen	presenilin enhancer, gamma-secretase subunit		presenilin enhancer gamma-secretase subunit	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - PID (archival)