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Protein

Apoptogenic protein 1, mitochondrial

Gene

APOPT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Apoptosis

Names & Taxonomyi

Protein namesi
Recommended name:
Apoptogenic protein 1, mitochondrial
Short name:
APOP-1
Gene namesi
Name:APOPT1
Synonyms:APOP1, C14orf153
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20492. APOPT1.

Subcellular locationi

  • Mitochondrion By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134961925.

Polymorphism and mutation databases

BioMutaiAPOPT1.
DMDMi363548522.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3939MitochondrionSequence AnalysisAdd
BLAST
Chaini40 – 206167Apoptogenic protein 1, mitochondrialPRO_0000019559Add
BLAST

Proteomic databases

MaxQBiQ96IL0.
PaxDbiQ96IL0.
PRIDEiQ96IL0.

PTM databases

PhosphoSiteiQ96IL0.

Expressioni

Gene expression databases

BgeeiQ96IL0.
ExpressionAtlasiQ96IL0. baseline and differential.
GenevisibleiQ96IL0. HS.

Interactioni

Protein-protein interaction databases

BioGridi124058. 2 interactions.
STRINGi9606.ENSP00000386485.

Structurei

3D structure databases

ProteinModelPortaliQ96IL0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the APOPT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00390000008212.
HOGENOMiHOG000111828.
HOVERGENiHBG074760.
InParanoidiQ96IL0.
OMAiWIGPPNP.
PhylomeDBiQ96IL0.
TreeFamiTF315168.

Family and domain databases

InterProiIPR018796. UPF0671.
[Graphical view]
PfamiPF10231. DUF2315. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96IL0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLPCAAGARG RGAMVVLRAG KKTFLPPLCR AFACRGCQLA PERGAERRDT
60 70 80 90 100
APSGVSRFCP PRKSCHDWIG PPDKYSNLRP VHFYIPENES PLEQKLRKLR
110 120 130 140 150
QETQEWNQQF WANQNLTFSK EKEEFIHSRL KTKGLGLRTE SGQKATLNAE
160 170 180 190 200
EMADFYKEFL SKNFQKHMYY NRDWYKRNFA ITFFMGKVAL ERIWNKLKQK

QKKRSN
Length:206
Mass (Da):24,153
Last modified:December 14, 2011 - v3
Checksum:i7ABC3470215F2244
GO

Sequence cautioni

The sequence AAH07412.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD96812.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD96823.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti191 – 1911E → G in CB136383 (PubMed:16712791).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271P → A.1 Publication
Corresponds to variant rs2274268 [ dbSNP | Ensembl ].
VAR_023000
Natural varianti88 – 881N → S.
Corresponds to variant rs35960830 [ dbSNP | Ensembl ].
VAR_033745

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS9983.2.
RefSeqiNP_001289581.1. NM_001302652.1.
NP_001289582.1. NM_001302653.1.
NP_115750.2. NM_032374.4.
UniGeneiHs.598441.

Genome annotation databases

EnsembliENST00000409074; ENSP00000386485; ENSG00000256053.
GeneIDi84334.
KEGGihsa:84334.
UCSCiuc010tyc.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS9983.2.
RefSeqiNP_001289581.1. NM_001302652.1.
NP_001289582.1. NM_001302653.1.
NP_115750.2. NM_032374.4.
UniGeneiHs.598441.

3D structure databases

ProteinModelPortaliQ96IL0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124058. 2 interactions.
STRINGi9606.ENSP00000386485.

PTM databases

PhosphoSiteiQ96IL0.

Polymorphism and mutation databases

BioMutaiAPOPT1.
DMDMi363548522.

Proteomic databases

MaxQBiQ96IL0.
PaxDbiQ96IL0.
PRIDEiQ96IL0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409074; ENSP00000386485; ENSG00000256053.
GeneIDi84334.
KEGGihsa:84334.
UCSCiuc010tyc.2. human.

Organism-specific databases

CTDi84334.
GeneCardsiGC14P104032.
HGNCiHGNC:20492. APOPT1.
MIMi616003. gene.
neXtProtiNX_Q96IL0.
PharmGKBiPA134961925.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00390000008212.
HOGENOMiHOG000111828.
HOVERGENiHBG074760.
InParanoidiQ96IL0.
OMAiWIGPPNP.
PhylomeDBiQ96IL0.
TreeFamiTF315168.

Miscellaneous databases

ChiTaRSiAPOPT1. human.
GenomeRNAii84334.
NextBioi74101.
PROiQ96IL0.
SOURCEiSearch...

Gene expression databases

BgeeiQ96IL0.
ExpressionAtlasiQ96IL0. baseline and differential.
GenevisibleiQ96IL0. HS.

Family and domain databases

InterProiIPR018796. UPF0671.
[Graphical view]
PfamiPF10231. DUF2315. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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.

Entry informationi

Entry nameiAPOP1_HUMAN
AccessioniPrimary (citable) accession number: Q96IL0
Secondary accession number(s): Q53G28
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: December 14, 2011
Last modified: July 22, 2015
This is version 95 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-14 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.