ALKBH7 (alkB homolog 7) - Rat Genome Database
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Gene: ALKBH7 (alkB homolog 7) Homo sapiens
Analyze
Symbol: ALKBH7
Name: alkB homolog 7
RGD ID: 1352016
HGNC Page HGNC
Description: Predicted to have dioxygenase activity and metal ion binding activity. Involved in cellular response to DNA damage stimulus and regulation of mitochondrial membrane permeability involved in programmed necrotic cell death. Localizes to mitochondrial matrix; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2-hydroxypropanoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ABH7; alkB, alkylation repair homolog 7; alkylated DNA repair protein alkB homolog 7; alpha-ketoglutarate-dependent dioxygenase alkB homolog 7; alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial; MGC10974; probable alpha-ketoglutarate-dependent dioxygenase ABH7; SPATA11; spermatogenesis associated 11; spermatogenesis cell proliferation related protein; spermatogenesis cell proliferation-related protein; spermatogenesis-associated protein 11; UNQ6002
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl196,372,794 - 6,375,250 (+)EnsemblGRCh38hg38GRCh38
GRCh38196,372,794 - 6,375,250 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37196,372,805 - 6,375,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,323,444 - 6,326,040 (+)NCBINCBI36hg18NCBI36
Build 34196,323,443 - 6,326,040NCBI
Celera196,311,231 - 6,314,048 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef196,132,589 - 6,135,406 (+)NCBIHuRef
CHM1_1196,372,069 - 6,374,886 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial matrix  (IDA,IEA,ISO)
mitochondrion  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:12975309   PMID:15489334   PMID:19490893   PMID:21182205   PMID:21832049   PMID:23666923   PMID:25122757   PMID:28231280   PMID:28514442   PMID:32296183  


Genomics

Comparative Map Data
ALKBH7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl196,372,794 - 6,375,250 (+)EnsemblGRCh38hg38GRCh38
GRCh38196,372,794 - 6,375,250 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37196,372,805 - 6,375,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,323,444 - 6,326,040 (+)NCBINCBI36hg18NCBI36
Build 34196,323,443 - 6,326,040NCBI
Celera196,311,231 - 6,314,048 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef196,132,589 - 6,135,406 (+)NCBIHuRef
CHM1_1196,372,069 - 6,374,886 (+)NCBICHM1_1
Alkbh7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,304,339 - 57,306,340 (+)NCBIGRCm39mm39
GRCm39 Ensembl1757,304,339 - 57,306,322 (+)Ensembl
GRCm381756,997,339 - 56,999,340 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,997,339 - 56,999,322 (+)EnsemblGRCm38mm10GRCm38
MGSCv371757,136,776 - 57,138,745 (+)NCBIGRCm37mm9NCBIm37
MGSCv361756,682,477 - 56,684,446 (+)NCBImm8
Celera1761,345,279 - 61,347,248 (+)NCBICelera
Cytogenetic Map17DNCBI
Alkbh7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.291,838,886 - 1,841,044 (+)NCBI
Rnor_6.0 Ensembl910,045,375 - 10,047,507 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0910,045,375 - 10,047,507 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.099,046,025 - 9,048,175 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,676,245 - 6,678,377 (-)NCBICelera
Cytogenetic Map9q12NCBI
Alkbh7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554953,220,994 - 3,223,551 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554953,220,994 - 3,222,675 (-)NCBIChiLan1.0ChiLan1.0
ALKBH7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1196,315,604 - 6,318,174 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,315,604 - 6,318,170 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0195,393,317 - 5,395,886 (+)NCBIMhudiblu_PPA_v0panPan3
ALKBH7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2053,783,993 - 53,785,524 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12053,783,948 - 53,785,563 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Alkbh7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365883,733,103 - 3,734,770 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALKBH7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl272,698,527 - 72,703,864 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1272,702,077 - 72,703,924 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2273,215,582 - 73,218,234 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALKBH7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.165,988,610 - 5,991,194 (+)NCBI
ChlSab1.1 Ensembl65,988,371 - 5,991,136 (+)Ensembl
Alkbh7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248283,507,657 - 3,509,314 (+)NCBI

Position Markers
RH93760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,374,577 - 6,374,968UniSTSGRCh37
Build 36196,325,577 - 6,325,968RGDNCBI36
Celera196,313,364 - 6,313,755RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,134,722 - 6,135,113UniSTS
GeneMap99-GB4 RH Map1935.78UniSTS
RH65607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,374,824 - 6,374,968UniSTSGRCh37
Build 36196,325,824 - 6,325,968RGDNCBI36
Celera196,313,611 - 6,313,755RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,134,969 - 6,135,113UniSTS
GeneMap99-GB4 RH Map1935.78UniSTS
NCBI RH Map1910.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:526
Count of miRNA genes:187
Interacting mature miRNAs:193
Transcripts:ENST00000245812, ENST00000596657, ENST00000599849
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 91
Medium 2430 2907 1723 622 1888 463 4352 2156 3696 414 1355 1603 171 1204 2788 4
Low 8 84 3 1 62 1 4 40 33 4 9 10 4 1 1 1
Below cutoff 1 1 1 4 1 4 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000245812   ⟹   ENSP00000245812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,372,794 - 6,375,250 (+)Ensembl
RefSeq Acc Id: ENST00000596657   ⟹   ENSP00000470542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,373,471 - 6,375,027 (+)Ensembl
RefSeq Acc Id: ENST00000599849   ⟹   ENSP00000470562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl196,373,704 - 6,375,031 (+)Ensembl
RefSeq Acc Id: NM_032306   ⟹   NP_115682
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,372,794 - 6,375,250 (+)NCBI
GRCh37196,372,444 - 6,375,261 (+)NCBI
Build 36196,323,444 - 6,326,040 (+)NCBI Archive
Celera196,311,231 - 6,314,048 (+)RGD
HuRef196,132,589 - 6,135,406 (+)ENTREZGENE
CHM1_1196,372,069 - 6,374,886 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259658   ⟹   XP_005259715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,373,850 - 6,375,031 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027355   ⟹   XP_016882844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,372,797 - 6,375,031 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115682   ⟸   NM_032306
- Peptide Label: precursor
- UniProtKB: Q9BT30 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005259715   ⟸   XM_005259658
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016882844   ⟸   XM_017027355
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000470542   ⟸   ENST00000596657
RefSeq Acc Id: ENSP00000470562   ⟸   ENST00000599849
RefSeq Acc Id: ENSP00000245812   ⟸   ENST00000245812
Protein Domains
2OG-FeII_Oxy_2

Promoters
RGD ID:6795127
Promoter ID:HG_KWN:28648
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032306
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,323,436 - 6,323,936 (+)MPROMDB
RGD ID:6811486
Promoter ID:HG_ACW:39503
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ALKBH7.CAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,324,496 - 6,324,996 (+)MPROMDB
RGD ID:7238205
Promoter ID:EPDNEW_H24849
Type:initiation region
Name:ALKBH7_1
Description:alkB homolog 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,372,795 - 6,372,855EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_004158.2(PSPN):c.95C>T (p.Ala32Val) single nucleotide variant Malignant melanoma [RCV000063657] Chr19:6375755 [GRCh38]
Chr19:6375766 [GRCh37]
Chr19:6326766 [NCBI36]
Chr19:19p13.3		 not provided
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:6362724-6382084)x1 copy number loss not provided [RCV000740021] Chr19:6362724..6382084 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3 copy number gain not provided [RCV001007029] Chr19:6246138..6823741 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3 copy number gain not provided [RCV001007028] Chr19:5949772..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3 copy number gain not provided [RCV001259930] Chr19:6096399..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21306 AgrOrtholog
COSMIC ALKBH7 COSMIC
Ensembl Genes ENSG00000125652 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000245812 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000470542 UniProtKB/TrEMBL
  ENSP00000470562 UniProtKB/TrEMBL
Ensembl Transcript ENST00000245812 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000596657 UniProtKB/TrEMBL
  ENST00000599849 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.590 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125652 GTEx
HGNC ID HGNC:21306 ENTREZGENE
Human Proteome Map ALKBH7 Human Proteome Map
InterPro AlkB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AlkB-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALKBH7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84266 UniProtKB/Swiss-Prot
NCBI Gene 84266 ENTREZGENE
OMIM 613305 OMIM
PANTHER PTHR21052 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 2OG-FeII_Oxy_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134905040 PharmGKB
UniProt ALKB7_HUMAN UniProtKB/Swiss-Prot
  M0QZH2_HUMAN UniProtKB/TrEMBL
  M0QZI0_HUMAN UniProtKB/TrEMBL
  Q9BT30 ENTREZGENE
UniProt Secondary B2R4U9 UniProtKB/Swiss-Prot
  Q53FF3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-30 ALKBH7  alkB homolog 7    alkB, alkylation repair homolog 7 (E. coli)  Symbol and/or name change 5135510 APPROVED