PSEN1 presenilin 1 [Pongo abelii (Sumatran orangutan)] - Gene

Summary

Gene symbol: PSEN1
Gene description: presenilin 1
Locus tag: CR201_G0037748
See related: Ensembl:ENSPPYG00000005967
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Pongo abelii
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Pongo
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 15

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	NHGRI_mPonAbe1-v2.0_pri (GCF_028885655.2)	15	NC_072000.2 (77394115..77473708)
RS_2023_04	previous assembly	NHGRI_mPonAbe1-v1.1-hic.freeze_pri (GCF_028885655.1)	14	NC_071999.1 (51762585..51842196)

Chromosome 15 - NC_072000.2 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Markers

G38182 (e-PCR)
- UniSTS:61209

WI-11404 (e-PCR)
- UniSTS:44594

SGC34362 (e-PCR)
- UniSTS:58943

G35565 (e-PCR)
- UniSTS:25416

G38175 (e-PCR)
- UniSTS:73545

G38218 (e-PCR)
- UniSTS:5967

G35501 (e-PCR)
- UniSTS:42580

G35665 (e-PCR)
- UniSTS:38760

D14S1438 (e-PCR)
- UniSTS:153981

D14S1440 (e-PCR)
- UniSTS:153983

D14S1442 (e-PCR)
- UniSTS:153985

PSEN1 (e-PCR)
- UniSTS:480427

G38136 (e-PCR)
- UniSTS:3507

G38203 (e-PCR)
- UniSTS:67017

G38066 (e-PCR)
- UniSTS:11726

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables aspartic endopeptidase activity, intramembrane cleaving	IEA Inferred from Electronic Annotation more info	PubMed
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info	PubMed
enables cadherin binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info	PubMed
involved_in protein processing	IEA Inferred from Electronic Annotation more info	PubMed
involved_in smooth endoplasmic reticulum calcium ion homeostasis	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: presenilin-1

Names: PS-1; Presenilin-1

NP_001126127.1

EC 3.4.23.-

XP_024087005.1

EC 3.4.23.-

XP_024087006.1

EC 3.4.23.-

XP_024087007.1

EC 3.4.23.-

XP_024087009.1

EC 3.4.23.-

XP_024087010.1

EC 3.4.23.-

XP_054385764.1

EC 3.4.23.-

XP_063571331.1

EC 3.4.23.-

XP_063571332.1

EC 3.4.23.-

XP_063571333.1

EC 3.4.23.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001132655.1 → NP_001126127.1 presenilin-1

See identical proteins and their annotated locations for NP_001126127.1

Status: PROVISIONAL

Source sequence(s)

CR859784

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

Related

ENSPPYP00000006781.1, ENSPPYT00000007049.2

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin; Presenilin

RefSeqs of Annotated Genomes: GCF_028885655.2-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

Genomic

NC_072000.2 Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

Range

77394115..77473708

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024231237.3 → XP_024087005.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4D7

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin
XM_024231238.3 → XP_024087006.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4D7

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin
XM_024231241.3 → XP_024087009.1 presenilin-1 isoform X2

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4E5, A0A6D2Y6B1, H2NLQ1

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin
XM_054529789.2 → XP_054385764.1 presenilin-1 isoform X3

UniProtKB/TrEMBL

A0A2J8T4E8
XM_024231242.3 → XP_024087010.1 presenilin-1 isoform X2

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4E5, A0A6D2Y6B1, H2NLQ1

Conserved Domains (1) summary

pfam01080
Location:72 → 453

Presenilin
XM_063715262.1 → XP_063571332.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4D7
XM_063715263.1 → XP_063571333.1 presenilin-1 isoform X2

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4E5, A0A6D2Y6B1, H2NLQ1
XM_024231239.3 → XP_024087007.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4D7

Conserved Domains (1) summary

pfam01080
Location:76 → 457

Presenilin
XM_063715261.1 → XP_063571331.1 presenilin-1 isoform X1

UniProtKB/Swiss-Prot

Q5R780, Q5R8G8

UniProtKB/TrEMBL

A0A2J8T4D7