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Q96IL0

- APOP1_HUMAN

UniProt

Q96IL0 - APOP1_HUMAN

Protein

Apoptogenic protein 1, mitochondrial

Gene

APOPT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 3 (14 Dec 2011)
      Previous versions | rss
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    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.By similarity

    GO - Biological processi

    1. intrinsic apoptotic signaling pathway Source: Ensembl
    2. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: Ensembl
    3. positive regulation of release of cytochrome c from mitochondria Source: Ensembl
    4. positive regulation of smooth muscle cell apoptotic process Source: Ensembl

    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: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20492. APOPT1.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134961925.

    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

    ArrayExpressiQ96IL0.
    BgeeiQ96IL0.
    GenevestigatoriQ96IL0.

    Interactioni

    Protein-protein interaction databases

    BioGridi124058. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96IL0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the APOPT family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0457.
    HOGENOMiHOG000111828.
    HOVERGENiHBG074760.
    InParanoidiQ96IL0.
    OMAiNRDWYRR.
    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

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    MLPCAAGARG RGAMVVLRAG KKTFLPPLCR AFACRGCQLA PERGAERRDT    50
    APSGVSRFCP PRKSCHDWIG PPDKYSNLRP VHFYIPENES PLEQKLRKLR 100
    QETQEWNQQF WANQNLTFSK EKEEFIHSRL KTKGLGLRTE SGQKATLNAE 150
    EMADFYKEFL SKNFQKHMYY NRDWYKRNFA ITFFMGKVAL ERIWNKLKQK 200
    QKKRSN 206
    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.
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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_115750.2. NM_032374.3.
    UniGeneiHs.598441.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi363548522.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS9983.2.
    RefSeqi NP_115750.2. NM_032374.3.
    UniGenei Hs.598441.

    3D structure databases

    ProteinModelPortali Q96IL0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124058. 2 interactions.

    PTM databases

    PhosphoSitei Q96IL0.

    Polymorphism databases

    DMDMi 363548522.

    Proteomic databases

    MaxQBi Q96IL0.
    PaxDbi Q96IL0.
    PRIDEi Q96IL0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000409074 ; ENSP00000386485 ; ENSG00000256053 .
    GeneIDi 84334.
    KEGGi hsa:84334.
    UCSCi uc010tyc.2. human.

    Organism-specific databases

    CTDi 84334.
    GeneCardsi GC14P104032.
    HGNCi HGNC:20492. APOPT1.
    neXtProti NX_Q96IL0.
    PharmGKBi PA134961925.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0457.
    HOGENOMi HOG000111828.
    HOVERGENi HBG074760.
    InParanoidi Q96IL0.
    OMAi NRDWYRR.
    PhylomeDBi Q96IL0.
    TreeFami TF315168.

    Miscellaneous databases

    ChiTaRSi APOPT1. human.
    GenomeRNAii 84334.
    NextBioi 74101.
    PROi Q96IL0.

    Gene expression databases

    ArrayExpressi Q96IL0.
    Bgeei Q96IL0.
    Genevestigatori Q96IL0.

    Family and domain databases

    InterProi IPR018796. UPF0671.
    [Graphical view ]
    Pfami PF10231. DUF2315. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    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: October 1, 2014
    This is version 88 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3