Q96IL0 (APOP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Apoptogenic protein 1, mitochondrial
Short name=APOP-1

Gene names

Name:	APOPT1
Synonyms:	APOP1, C14orf153

Organism

Homo sapiens (Human) [Reference proteome]

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	206 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade By similarity.
Subcellular location	Mitochondrion By similarity.
Sequence similarities	Belongs to the APOPT family.
Caution	It is uncertain whether Met-1 or Met-14 is the initiator.
Sequence caution	The sequence AAH07412.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAD96812.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAD96823.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Apoptosis
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	intrinsic apoptotic signaling pathway Inferred from electronic annotation. Source: Compara positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Inferred from electronic annotation. Source: Compara positive regulation of release of cytochrome c from mitochondria Inferred from electronic annotation. Source: Compara positive regulation of smooth muscle cell apoptotic process Inferred from electronic annotation. Source: Compara
Cellular_component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 39	39	Mitochondrion Potential
	Chain	40 – 206	167	Apoptogenic protein 1, mitochondrial		PRO_0000019559
Natural variations
	Natural variant	27	1	P → A. Ref.4 Corresponds to variant rs2274268 [ dbSNP | Ensembl ].		VAR_023000
	Natural variant	88	1	N → S. Corresponds to variant rs35960830 [ dbSNP | Ensembl ].		VAR_033745
Experimental info
	Sequence conflict	191	1	E → G in CB136383. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q96IL0 [UniParc]. Last modified December 14, 2011. Version 3. Checksum: 7ABC3470215F2244	FASTA	206	24,153
	10 20 30 40 50 60 MLPCAAGARG RGAMVVLRAG KKTFLPPLCR AFACRGCQLA PERGAERRDT APSGVSRFCP 70 80 90 100 110 120 PRKSCHDWIG PPDKYSNLRP VHFYIPENES PLEQKLRKLR QETQEWNQQF WANQNLTFSK 130 140 150 160 170 180 EKEEFIHSRL KTKGLGLRTE SGQKATLNAE EMADFYKEFL SKNFQKHMYY NRDWYKRNFA 190 200 ITFFMGKVAL ERIWNKLKQK QKKRSN

References

[1]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags." Wang A.G., Yoon S.Y., Oh J.H., Jeon Y.J., Kim M., Kim J.M., Byun S.S., Yang J.O., Kim J.H., Kim D.G., Yeom Y.I., Yoo H.S., Kim Y.S., Kim N.S. Biochem. Biophys. Res. Commun. 345:1022-1032(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-197. Tissue: Ovary.
[3]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 9-206.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-206, VARIANT ALA-27. Tissue: Ovary.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL139300 Genomic DNA. No translation available. CB136383 mRNA. No translation available. AK223092 mRNA. Translation: BAD96812.1. Different initiation. AK223103 mRNA. Translation: BAD96823.1. Different initiation. BC007412 mRNA. Translation: AAH07412.1. Different initiation.
IPI	IPI00063672.
RefSeq	NP_115750.2. NM_032374.3.
UniGene	Hs.598441.
3D structure databases
ProteinModelPortal	Q96IL0.
ModBase	Search...
PTM databases
PhosphoSite	Q96IL0.
Polymorphism databases
DMDM	294862424.
Proteomic databases
PaxDb	Q96IL0.
PRIDE	Q96IL0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000409074; ENSP00000386485; ENSG00000256053.
GeneID	84334.
KEGG	hsa:84334.
UCSC	uc010tyc.2. human.
Organism-specific databases
CTD	84334.
GeneCards	GC14P104032. GC14P104034.
HGNC	HGNC:20492. APOPT1.
neXtProt	NX_Q96IL0.
PharmGKB	PA134961925.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0457.
HOGENOM	HOG000111828.
HOVERGEN	HBG074760.
InParanoid	Q96IL0.
OMA	SEEMAVF.
Gene expression databases
ArrayExpress	Q96IL0.
Bgee	Q96IL0.
Genevestigator	Q96IL0.
GermOnline	ENSG00000127150. Homo sapiens.
Family and domain databases
InterPro	IPR018796. UPF0671. [Graphical view]
Pfam	PF10231. DUF2315. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	APOPT1. human.
GenomeRNAi	84334.
NextBio	74101.

Entry information

Entry name

APOP1_HUMAN

Accession

Primary (citable) accession number: Q96IL0
Secondary accession number(s): Q53G28

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	December 14, 2011
Last modified:	April 3, 2013
This is version 80 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.