Presenilin 1 - Homo sapiens (Human)

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Unreviewed, UniProtKB/TrEMBL Q6F4C0 (Q6F4C0_HUMAN)

Last modified February 9, 2010. Version 28. History...

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Names and origin · Protein attributes · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information

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Names and origin

Protein names

Submitted name:
Presenilin 1 EMBL BAD30017.1

Gene names

Name:

PSEN1 EMBL BAD30017.1

Organism

Homo sapiens (Human) EMBL BAD30017.1

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	47 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level.

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Ontologies

Gene Ontology (GO)
Biological process	Cajal-Retzius cell differentiation Inferred from electronic annotation. Source: Compara L-glutamate transport Inferred from electronic annotation. Source: Compara Notch receptor processing Inferred from electronic annotation. Source: Compara T cell activation during immune response Inferred from electronic annotation. Source: Compara T cell receptor signaling pathway Inferred from electronic annotation. Source: Compara activation of MAPKK activity Inferred from electronic annotation. Source: Compara amyloid precursor protein catabolic process Inferred from electronic annotation. Source: Compara anagen Inferred from electronic annotation. Source: Compara anti-apoptosis Inferred from electronic annotation. Source: Compara autophagic vacuole assembly Inferred from electronic annotation. Source: Compara beta-amyloid metabolic process Inferred from electronic annotation. Source: Compara blood vessel development Inferred from electronic annotation. Source: Compara brain morphogenesis Inferred from electronic annotation. Source: Compara cell fate specification Inferred from electronic annotation. Source: Compara cerebral cortex cell migration Inferred from electronic annotation. Source: Compara choline transport Inferred from electronic annotation. Source: Compara dorsal/ventral neural tube patterning Inferred from electronic annotation. Source: Compara embryonic limb morphogenesis Inferred from electronic annotation. Source: Compara epithelial cell proliferation Inferred from electronic annotation. Source: Compara heart looping Inferred from electronic annotation. Source: Compara hemopoietic progenitor cell differentiation Inferred from electronic annotation. Source: Compara memory Inferred from electronic annotation. Source: Compara mitochondrial transport Inferred from electronic annotation. Source: Compara myeloid leukocyte differentiation Inferred from electronic annotation. Source: Compara negative regulation of axonogenesis Inferred from electronic annotation. Source: Compara negative regulation of neuron apoptosis Inferred from electronic annotation. Source: Compara negative regulation of protein amino acid phosphorylation Inferred from electronic annotation. Source: Compara negative regulation of protein kinase activity Inferred from electronic annotation. Source: Compara neuron apoptosis Inferred from electronic annotation. Source: Compara neuron development Inferred from electronic annotation. Source: Compara neuron migration Inferred from electronic annotation. Source: Compara positive regulation of MAP kinase activity Inferred from electronic annotation. Source: Compara positive regulation of apoptosis Inferred from electronic annotation. Source: Compara positive regulation of coagulation Inferred from electronic annotation. Source: Compara positive regulation of protein amino acid phosphorylation Inferred from electronic annotation. Source: Compara post-embryonic development Inferred from electronic annotation. Source: Compara protein amino acid glycosylation Inferred from electronic annotation. Source: Compara protein transport Inferred from electronic annotation. Source: Compara regulation of epidermal growth factor receptor activity Inferred from electronic annotation. Source: Compara regulation of protein binding Inferred from electronic annotation. Source: Compara regulation of resting membrane potential Inferred from electronic annotation. Source: Compara regulation of synaptic plasticity Inferred from electronic annotation. Source: Compara regulation of synaptic transmission, glutamatergic Inferred from electronic annotation. Source: Compara response to DNA damage stimulus Inferred from electronic annotation. Source: Compara response to oxidative stress Inferred from electronic annotation. Source: Compara skeletal system morphogenesis Inferred from electronic annotation. Source: Compara smooth endoplasmic reticulum calcium ion homeostasis Inferred from electronic annotation. Source: Compara somitogenesis Inferred from electronic annotation. Source: Compara synaptic vesicle targeting Inferred from electronic annotation. Source: Compara thymus development Inferred from electronic annotation. Source: Compara
Cellular component	axon Inferred from electronic annotation. Source: Compara cell soma Inferred from electronic annotation. Source: Compara ciliary rootlet Inferred from electronic annotation. Source: Compara cytoplasmic vesicle Inferred from electronic annotation. Source: Compara dendritic shaft Inferred from electronic annotation. Source: Compara growth cone Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: InterPro lysosomal membrane Inferred from electronic annotation. Source: Compara membrane raft Inferred from electronic annotation. Source: Compara mitochondrial inner membrane Inferred from electronic annotation. Source: Compara neuromuscular junction Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: Compara plasma membrane Inferred from electronic annotation. Source: Compara protein complex Inferred from electronic annotation. Source: Compara synaptosome Inferred from electronic annotation. Source: Compara
Molecular function	cadherin binding Inferred from electronic annotation. Source: Compara endopeptidase activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Experimental info

Non-terminal residue

EMBL BAD30017.1

Non-terminal residue

EMBL BAD30017.1

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Sequences

Sequence

Length

Mass (Da)

Tools

Q6F4C0-1 [UniParc].

Last modified August 16, 2004. Version 1.
Checksum: 5D5073E1103253F2
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FASTA

5,342

        10         20         30         40 
IYTPFTEDTE TVGQRALHSI LNAAIMISVI VVMTILLVVL NKYRCYK

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References

[1]	"Novel mutation of the presenilin 1 gene (Y154N) is associated with a pedigree of familial Alzheimer's disseases with spastic paraparesis." Wakutani Y., Wada-Isoe K., Sakuma K., Nakashima K. Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
EMBL GenBank DDBJ	AB159776 Genomic DNA. Translation: BAD30017.1.
IPI	IPI00219934.
UniGene	Hs.3260
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q6F4C0.
Genome annotation databases
Ensembl	ENST00000261970; ENSP00000261970; ENSG00000080815; Homo sapiens. [Genome view] ENST00000324501; ENSP00000326366; ENSG00000080815; Homo sapiens. [Genome view] ENST00000344094; ENSP00000339523; ENSG00000080815; Homo sapiens. [Genome view] ENST00000357710; ENSP00000350342; ENSG00000080815; Homo sapiens. [Genome view] ENST00000394157; ENSP00000377712; ENSG00000080815; Homo sapiens. [Genome view] ENST00000394164; ENSP00000377719; ENSG00000080815; Homo sapiens. [Genome view] ENST00000406768; ENSP00000385948; ENSG00000080815; Homo sapiens. [Genome view]
Organism-specific databases
HGNC	HGNC:9508. PSEN1.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q6F4C0.
Gene expression databases
ArrayExpress	Q6F4C0.
Bgee	Q6F4C0.
Family and domain databases
InterPro	IPR002031. Pept_A22A_PS1. IPR001108. Peptidase_A22A. [Graphical view]
PANTHER	PTHR10202:SF7. Pept_A22A_PS1. 1 hit. PTHR10202. Peptidase_A22A. 1 hit.
Pfam	PF01080. Presenilin. 1 hit. [Graphical view]
ProtoNet	Search...

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Entry information

Entry name

Q6F4C0_HUMAN

Accession

Primary (citable) accession number: Q6F4C0

Entry history

Integrated into UniProtKB/TrEMBL:	August 16, 2004
Last sequence update:	August 16, 2004
Last modified:	February 9, 2010
This is version 28 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Names and origin · Protein attributes · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information

Names and origin

Protein attributes

Ontologies

Sequence annotation (Features)

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Entry information