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Protein

Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial

Gene

ALKBH7

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

Functioni

May function as protein hydroxylase; can catalyze auto-hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). 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 (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity).By similarity2 Publications

Cofactori

Fe2+1 PublicationNote: Binds 1 Fe2+ ion per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi121Iron; catalytic1 Publication1
Metal bindingi123Iron; catalytic1 Publication1
Binding sitei165Alpha-ketoglutarate1
Metal bindingi177Iron; catalytic1 Publication1
Binding sitei203Alpha-ketoglutarate1

GO - Molecular functioni

GO - Biological processi

  • cellular response to DNA damage stimulus Source: UniProtKB
  • fatty acid metabolic process Source: UniProtKB
  • regulation of lipid storage Source: UniProtKB
  • 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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125652-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:21306. ALKBH7.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi110L → Q: Does not affect ability to trigger programmed necrosis. 1 Publication1

Organism-specific databases

DisGeNETi84266.
OpenTargetsiENSG00000125652.
PharmGKBiPA134905040.

Polymorphism and mutation databases

BioMutaiALKBH7.
DMDMi74733083.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 20MitochondrionSequence analysisAdd BLAST20
ChainiPRO_000023928821 – 221Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrialAdd BLAST201

Proteomic databases

EPDiQ9BT30.
MaxQBiQ9BT30.
PaxDbiQ9BT30.
PeptideAtlasiQ9BT30.
PRIDEiQ9BT30.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000125652.
CleanExiHS_ALKBH7.
ExpressionAtlasiQ9BT30. baseline and differential.
GenevisibleiQ9BT30. HS.

Organism-specific databases

HPAiHPA039571.
HPA039872.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi123993. 4 interactors.
IntActiQ9BT30. 1 interactor.
STRINGi9606.ENSP00000245812.

Structurei

Secondary structure

1221
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi18 – 22Combined sources5
Helixi23 – 28Combined sources6
Turni29 – 32Combined sources4
Beta strandi33 – 36Combined sources4
Helixi42 – 57Combined sources16
Beta strandi69 – 78Combined sources10
Helixi83 – 96Combined sources14
Beta strandi105 – 121Combined sources17
Turni125 – 127Combined sources3
Beta strandi130 – 139Combined sources10
Beta strandi141 – 149Combined sources9
Beta strandi154 – 159Combined sources6
Beta strandi164 – 168Combined sources5
Helixi170 – 173Combined sources4
Beta strandi175 – 179Combined sources5
Helixi182 – 184Combined sources3
Beta strandi197 – 204Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QKBX-ray2.60A/B/C17-215[»]
4QKDX-ray1.35A/B/C17-215[»]
4QKFX-ray1.99A/B/C17-215[»]
ProteinModelPortaliQ9BT30.
SMRiQ9BT30.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni197 – 199Alpha-ketoglutarate binding1 Publication3

Sequence similaritiesi

Belongs to the alkB family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4176. Eukaryota.
COG3145. LUCA.
GeneTreeiENSGT00390000014585.
HOGENOMiHOG000018442.
HOVERGENiHBG054357.
InParanoidiQ9BT30.
KOiK10769.
OMAiRYEKSHW.
OrthoDBiEOG091G0U2U.
PhylomeDBiQ9BT30.
TreeFamiTF314197.

Family and domain databases

Gene3Di2.60.120.590. 1 hit.
InterProiIPR027450. AlkB-like.
IPR032870. ALKBH7.
[Graphical view]
PANTHERiPTHR21052:SF0. PTHR21052:SF0. 1 hit.
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

        10         20         30         40         50
MAGTGLLALR TLPGPSWVRG SGPSVLSRLQ DAAVVRPGFL STAEEETLSR
60 70 80 90 100
ELEPELRRRR YEYDHWDAAI HGFRETEKSR WSEASRAILQ RVQAAAFGPG
110 120 130 140 150
QTLLSSVHVL DLEARGYIKP HVDSIKFCGA TIAGLSLLSP SVMRLVHTQE
160 170 180 190 200
PGEWLELLLE PGSLYILRGS ARYDFSHEIL RDEESFFGER RIPRGRRISV
210 220
ICRSLPEGMG PGESGQPPPA C
Length:221
Mass (Da):24,516
Last modified:June 1, 2001 - v1
Checksum:i3BB7DF2242A49949
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti89L → P in BAD97056 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048224191R → Q.Corresponds to variant rs7540dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QKBX-ray2.60A/B/C17-215[»]
4QKDX-ray1.35A/B/C17-215[»]
4QKFX-ray1.99A/B/C17-215[»]
ProteinModelPortaliQ9BT30.
SMRiQ9BT30.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123993. 4 interactors.
IntActiQ9BT30. 1 interactor.
STRINGi9606.ENSP00000245812.

Polymorphism and mutation databases

BioMutaiALKBH7.
DMDMi74733083.

Proteomic databases

EPDiQ9BT30.
MaxQBiQ9BT30.
PaxDbiQ9BT30.
PeptideAtlasiQ9BT30.
PRIDEiQ9BT30.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245812; ENSP00000245812; ENSG00000125652.
GeneIDi84266.
KEGGihsa:84266.
UCSCiuc002meo.3. human.

Organism-specific databases

CTDi84266.
DisGeNETi84266.
GeneCardsiALKBH7.
HGNCiHGNC:21306. ALKBH7.
HPAiHPA039571.
HPA039872.
MIMi613305. gene.
neXtProtiNX_Q9BT30.
OpenTargetsiENSG00000125652.
PharmGKBiPA134905040.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4176. Eukaryota.
COG3145. LUCA.
GeneTreeiENSGT00390000014585.
HOGENOMiHOG000018442.
HOVERGENiHBG054357.
InParanoidiQ9BT30.
KOiK10769.
OMAiRYEKSHW.
OrthoDBiEOG091G0U2U.
PhylomeDBiQ9BT30.
TreeFamiTF314197.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125652-MONOMER.

Miscellaneous databases

ChiTaRSiALKBH7. human.
GenomeRNAii84266.
PROiQ9BT30.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125652.
CleanExiHS_ALKBH7.
ExpressionAtlasiQ9BT30. baseline and differential.
GenevisibleiQ9BT30. HS.

Family and domain databases

Gene3Di2.60.120.590. 1 hit.
InterProiIPR027450. AlkB-like.
IPR032870. ALKBH7.
[Graphical view]
PANTHERiPTHR21052:SF0. PTHR21052:SF0. 1 hit.
PfamiPF13532. 2OG-FeII_Oxy_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 108 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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 one 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.