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Q9BT30

- ALKB7_HUMAN

UniProt

Q9BT30 - ALKB7_HUMAN

Protein

Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial

Gene

ALKBH7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Probable dioxygenase required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death. ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage. Does not display DNA demethylase activity. Involved in fatty acid metabolism.1 Publication

    Cofactori

    Binds 1 Fe2+ ion per subunit.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi121 – 1211Iron; catalyticBy similarity
    Metal bindingi123 – 1231Iron; catalyticBy similarity
    Metal bindingi177 – 1771Iron; catalyticBy similarity
    Binding sitei197 – 19712-oxoglutarateSequence Analysis

    GO - Molecular functioni

    1. dioxygenase activity Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. cellular response to DNA damage stimulus Source: UniProtKB
    2. fatty acid metabolic process Source: UniProtKB
    3. regulation of lipid storage Source: UniProtKB
    4. regulation of mitochondrial membrane permeability involved in programmed necrotic cell death Source: UniProtKB

    Keywords - Molecular functioni

    Dioxygenase, Oxidoreductase

    Keywords - Biological processi

    Necrosis

    Keywords - Ligandi

    Iron, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial (EC:1.14.11.-)
    Alternative name(s):
    Alkylated DNA repair protein alkB homolog 7
    Spermatogenesis cell proliferation-related protein
    Spermatogenesis-associated protein 11
    Gene namesi
    Name:ALKBH7
    Synonyms:ABH7, SPATA11
    ORF Names:UNQ6002/PRO34564
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:21306. ALKBH7.

    Subcellular locationi

    Mitochondrion matrix 1 Publication

    GO - Cellular componenti

    1. mitochondrial matrix Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi110 – 1101L → Q: Does not affect ability to trigger programmed necrosis. 1 Publication

    Organism-specific databases

    PharmGKBiPA134905040.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2020MitochondrionSequence AnalysisAdd
    BLAST
    Chaini21 – 221201Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrialPRO_0000239288Add
    BLAST

    Proteomic databases

    MaxQBiQ9BT30.
    PaxDbiQ9BT30.
    PRIDEiQ9BT30.

    Expressioni

    Tissue specificityi

    Widely expressed, with highest expression in pancreas, followed by spleen, prostate, ovary and placenta.1 Publication

    Gene expression databases

    ArrayExpressiQ9BT30.
    BgeeiQ9BT30.
    CleanExiHS_ALKBH7.
    GenevestigatoriQ9BT30.

    Organism-specific databases

    HPAiHPA039872.

    Interactioni

    Protein-protein interaction databases

    BioGridi123993. 3 interactions.
    IntActiQ9BT30. 1 interaction.
    STRINGi9606.ENSP00000245812.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BT30.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the alkB family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiNOG299394.
    HOGENOMiHOG000018442.
    HOVERGENiHBG054357.
    InParanoidiQ9BT30.
    KOiK10769.
    OMAiSHWDDAI.
    OrthoDBiEOG7M0NT9.
    PhylomeDBiQ9BT30.
    TreeFamiTF314197.

    Family and domain databases

    Gene3Di2.60.120.590. 1 hit.
    InterProiIPR027450. AlkB-like.
    [Graphical view]
    PfamiPF13532. 2OG-FeII_Oxy_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9BT30-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGTGLLALR TLPGPSWVRG SGPSVLSRLQ DAAVVRPGFL STAEEETLSR    50
    ELEPELRRRR YEYDHWDAAI HGFRETEKSR WSEASRAILQ RVQAAAFGPG 100
    QTLLSSVHVL DLEARGYIKP HVDSIKFCGA TIAGLSLLSP SVMRLVHTQE 150
    PGEWLELLLE PGSLYILRGS ARYDFSHEIL RDEESFFGER RIPRGRRISV 200
    ICRSLPEGMG PGESGQPPPA C 221
    Length:221
    Mass (Da):24,516
    Last modified:June 1, 2001 - v1
    Checksum:i3BB7DF2242A49949
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti89 – 891L → P in BAD97056. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti191 – 1911R → Q.
    Corresponds to variant rs7540 [ dbSNP | Ensembl ].
    VAR_048224

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY427650 mRNA. Translation: AAR24624.1.
    AY358858 mRNA. Translation: AAQ89217.1.
    AK223336 mRNA. Translation: BAD97056.1.
    AK311956 mRNA. Translation: BAG34896.1.
    AC011491 Genomic DNA. No translation available.
    CH471139 Genomic DNA. Translation: EAW69102.1.
    BC004393 mRNA. Translation: AAH04393.1.
    CCDSiCCDS12163.1.
    RefSeqiNP_115682.1. NM_032306.3.
    UniGeneiHs.111099.

    Genome annotation databases

    EnsembliENST00000245812; ENSP00000245812; ENSG00000125652.
    GeneIDi84266.
    KEGGihsa:84266.
    UCSCiuc002meo.2. human.

    Polymorphism databases

    DMDMi74733083.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY427650 mRNA. Translation: AAR24624.1 .
    AY358858 mRNA. Translation: AAQ89217.1 .
    AK223336 mRNA. Translation: BAD97056.1 .
    AK311956 mRNA. Translation: BAG34896.1 .
    AC011491 Genomic DNA. No translation available.
    CH471139 Genomic DNA. Translation: EAW69102.1 .
    BC004393 mRNA. Translation: AAH04393.1 .
    CCDSi CCDS12163.1.
    RefSeqi NP_115682.1. NM_032306.3.
    UniGenei Hs.111099.

    3D structure databases

    ProteinModelPortali Q9BT30.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123993. 3 interactions.
    IntActi Q9BT30. 1 interaction.
    STRINGi 9606.ENSP00000245812.

    Polymorphism databases

    DMDMi 74733083.

    Proteomic databases

    MaxQBi Q9BT30.
    PaxDbi Q9BT30.
    PRIDEi Q9BT30.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000245812 ; ENSP00000245812 ; ENSG00000125652 .
    GeneIDi 84266.
    KEGGi hsa:84266.
    UCSCi uc002meo.2. human.

    Organism-specific databases

    CTDi 84266.
    GeneCardsi GC19P006372.
    HGNCi HGNC:21306. ALKBH7.
    HPAi HPA039872.
    MIMi 613305. gene.
    neXtProti NX_Q9BT30.
    PharmGKBi PA134905040.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG299394.
    HOGENOMi HOG000018442.
    HOVERGENi HBG054357.
    InParanoidi Q9BT30.
    KOi K10769.
    OMAi SHWDDAI.
    OrthoDBi EOG7M0NT9.
    PhylomeDBi Q9BT30.
    TreeFami TF314197.

    Miscellaneous databases

    ChiTaRSi ALKBH7. human.
    GenomeRNAii 84266.
    NextBioi 73812.
    PROi Q9BT30.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BT30.
    Bgeei Q9BT30.
    CleanExi HS_ALKBH7.
    Genevestigatori Q9BT30.

    Family and domain databases

    Gene3Di 2.60.120.590. 1 hit.
    InterProi IPR027450. AlkB-like.
    [Graphical view ]
    Pfami PF13532. 2OG-FeII_Oxy_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel human testis overexpressed gene by digital differential display."
      Mo Y., Li L., Lu G.
      Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thymus.
    4. 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].
      Tissue: Testis.
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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].
      Tissue: Placenta.
    8. Cited for: TISSUE SPECIFICITY.
    9. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Human ALKBH7 is required for alkylation and oxidation-induced programmed necrosis."
      Fu D., Jordan J.J., Samson L.D.
      Genes Dev. 27:1089-1100(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF LEU-110.

    Entry informationi

    Entry nameiALKB7_HUMAN
    AccessioniPrimary (citable) accession number: Q9BT30
    Secondary accession number(s): B2R4U9, Q53FF3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2006
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 90 of the entry and version 1 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

    Was initially reported to localize both in cytoplasm and nucleus (PubMed:17979886). However, it was later shown it localizes in mitochondrion (PubMed:23666923). The discrepancy is probably due to the use of a fusion protein with an N-terminal tag in the initial report (PubMed:17979886).2 Publications

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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