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Q9BT30

- ALKB7_HUMAN

UniProt

Q9BT30 - ALKB7_HUMAN

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Protein
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial
Gene
ALKBH7, ABH7, SPATA11, UNQ6002/PRO34564
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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; catalytic By similarity
Metal bindingi123 – 1231Iron; catalytic By similarity
Metal bindingi177 – 1771Iron; catalytic By similarity
Binding sitei197 – 19712-oxoglutarate Reviewed prediction

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
Complete GO annotation...

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
Complete GO annotation...

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 – 2020Mitochondrion Reviewed prediction
Add
BLAST
Chaini21 – 221201Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the alkB family.

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

Natural variant

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

Sequence conflict

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

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 89 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 (1 Publication). However, it was later shown it localizes in mitochondrion (1 Publication). The discrepancy is probably due to the use of a fusion protein with an N-terminal tag in the initial report (1 Publication).

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

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