Q6F4C0 (Q6F4C0_HUMAN) Unreviewed, UniProtKB/TrEMBL

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

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

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

Ontologies

Gene Ontology (GO)
Biological_process	intracellular signal transduction Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Inferred from electronic annotation. Source: InterPro
Molecular_function	aspartic-type endopeptidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	1	1	EMBL BAD30017.1
	Non-terminal residue	47	1	EMBL BAD30017.1

Sequences

	Sequence		Length	Mass (Da)
	Q6F4C0 [UniParc]. Last modified August 16, 2004. Version 1. Checksum: 5D5073E1103253F2	FASTA	47	5,342
	10 20 30 40 IYTPFTEDTE TVGQRALHSI LNAAIMISVI VVMTILLVVL NKYRCYK

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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB159776 Genomic DNA. Translation: BAD30017.1.
IPI	IPI00219934.
UniGene	Hs.3260.
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q6F4C0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Phylogenomic databases
HOGENOM	HOG000240228.
Gene expression databases
ArrayExpress	Q6F4C0.
Family and domain databases
InterPro	IPR002031. Pept_A22A_PS1. IPR001108. Peptidase_A22A. [Graphical view]
PANTHER	PTHR10202. PTHR10202. 1 hit. PTHR10202:SF7. PTHR10202:SF7. 1 hit.
Pfam	PF01080. Presenilin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	PSEN1. human.

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:	May 29, 2013
This is version 51 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.