Abcb7 (ATP binding cassette subfamily B member 7) - Rat Genome Database

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Pathways
Gene: Abcb7 (ATP binding cassette subfamily B member 7) Rattus norvegicus
Analyze
Symbol: Abcb7
Name: ATP binding cassette subfamily B member 7
RGD ID: 1303086
Description: Predicted to enable ABC-type iron-sulfur cluster transporter activity and protein homodimerization activity. Involved in intracellular iron ion homeostasis and negative regulation of reactive oxygen species biosynthetic process. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial inner membrane. Human ortholog(s) of this gene implicated in X-linked sideroblastic anemia with ataxia. Orthologous to human ABCB7 (ATP binding cassette subfamily B member 7); PARTICIPATES IN mitochondrial iron-sulfur cluster export pathway; INTERACTS WITH (+)-schisandrin B; 17beta-estradiol; 2,6-dinitrotoluene.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: ABC transporter 7 protein; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; ATP-binding cassette, sub-family B, member 7, mitochondrial; ATP-binding cassette, sub-family B, member 7, mitochondrial precursor; ATP-binding cassette, subfamily B (MDR/TAP), member 7; iron-sulfur clusters transporter ABCB7, mitochondrial
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X73,361,296 - 73,502,464 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX73,361,310 - 73,502,547 (-)EnsemblGRCr8
mRatBN7.2X69,295,598 - 69,436,775 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX69,295,552 - 69,436,858 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX70,804,692 - 70,945,868 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X74,304,987 - 74,446,162 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X71,866,179 - 72,007,358 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X75,150,511 - 75,291,950 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX75,150,608 - 75,291,938 (-)Ensemblrn6Rnor6.0
Rnor_5.0X75,954,591 - 76,094,049 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X92,280,115 - 92,430,426 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX70,651,391 - 70,791,324 (-)NCBICelera
RGSC_v3.1X92,353,547 - 92,503,859 (-)NCBI
Cytogenetic MapXq22NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
mitochondrial inner membrane  (IBA,IEA,ISO)
mitochondrion  (IEA,ISO,ISS)
plasma membrane  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Allikmets R, etal., Hum Mol Genet. 1999 May;8(5):743-9.
2. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Bekri S, etal., Blood. 2000 Nov 1;96(9):3256-64.
3. The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. Boultwood J, etal., PLoS One. 2008 Apr 9;3(4):e1970. doi: 10.1371/journal.pone.0001970.
4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
5. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
6. Chronic Pressure Overload Results in Deficiency of Mitochondrial Membrane Transporter ABCB7 Which Contributes to Iron Overload, Mitochondrial Dysfunction, Metabolic Shift and Worsens Cardiac Function. Kumar V, etal., Sci Rep. 2019 Sep 11;9(1):13170. doi: 10.1038/s41598-019-49666-0.
7. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Maguire A, etal., Br J Haematol. 2001 Dec;115(4):910-7.
8. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
9. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. GOA pipeline RGD automated data pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Comprehensive gene review and curation RGD comprehensive gene curation
15. Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase. Taketani S, etal., Blood 2003 Apr 15;101(8):3274-80. Epub 2002 Dec 12.
Additional References at PubMed
PMID:12865426   PMID:14651853   PMID:16424901   PMID:17006453   PMID:26316108  


Genomics

Comparative Map Data
Abcb7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X73,361,296 - 73,502,464 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX73,361,310 - 73,502,547 (-)EnsemblGRCr8
mRatBN7.2X69,295,598 - 69,436,775 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX69,295,552 - 69,436,858 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX70,804,692 - 70,945,868 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X74,304,987 - 74,446,162 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X71,866,179 - 72,007,358 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X75,150,511 - 75,291,950 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX75,150,608 - 75,291,938 (-)Ensemblrn6Rnor6.0
Rnor_5.0X75,954,591 - 76,094,049 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X92,280,115 - 92,430,426 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX70,651,391 - 70,791,324 (-)NCBICelera
RGSC_v3.1X92,353,547 - 92,503,859 (-)NCBI
Cytogenetic MapXq22NCBI
ABCB7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X75,051,048 - 75,156,283 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX75,051,048 - 75,156,732 (-)Ensemblhg38GRCh38
GRCh37X74,270,883 - 74,376,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,189,830 - 74,292,857 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34X74,056,127 - 74,159,153NCBI
CeleraX74,556,536 - 74,659,552 (-)NCBICelera
Cytogenetic MapXq13.3NCBI
HuRefX67,906,559 - 68,010,008 (-)NCBIHuRef
CHM1_1X74,165,916 - 74,269,046 (-)NCBICHM1_1
T2T-CHM13v2.0X73,484,682 - 73,589,943 (-)NCBIT2T-CHM13v2.0
Abcb7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X103,324,171 - 103,457,452 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX103,324,263 - 103,457,462 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38X104,280,565 - 104,413,846 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX104,280,657 - 104,413,856 (-)Ensemblmm10GRCm38
MGSCv37X101,475,904 - 101,609,185 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
CeleraX91,172,735 - 91,305,783 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX46.58NCBI
Abcb7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555621,077,198 - 1,221,061 (-)Ensembl
ChiLan1.0NW_0049555621,079,884 - 1,220,806 (-)NCBIChiLan1.0ChiLan1.0
ABCB7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X74,734,492 - 74,838,145 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X74,738,102 - 74,841,298 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X64,304,101 - 64,407,310 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X74,418,754 - 74,521,726 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX74,418,754 - 74,521,726 (-)EnsemblpanPan2panpan1.1
ABCB7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X58,305,804 - 58,470,827 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX58,306,776 - 58,471,417 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_TashaX49,482,770 - 49,647,336 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0X59,542,308 - 59,707,158 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX59,540,916 - 59,707,267 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X57,230,770 - 57,395,118 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X58,850,296 - 59,014,604 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X58,448,856 - 58,613,397 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Abcb7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X43,621,036 - 43,722,688 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366831,222,450 - 1,326,765 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366831,224,703 - 1,326,761 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCB7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX60,186,814 - 60,313,064 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X60,186,559 - 60,313,098 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X68,395,504 - 68,522,015 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABCB7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X64,633,989 - 64,748,638 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX64,634,079 - 64,701,938 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366606716,958,476 - 17,074,666 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcb7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248365,605,831 - 5,766,275 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248365,605,901 - 5,769,488 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in Abcb7
324 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:29
Count of miRNA genes:29
Interacting mature miRNAs:29
Transcripts:ENSRNOT00000003739
Prediction methods:Miranda, Pita, 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.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
61430Cia18Collagen induced arthritis QTL 183.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)X14843113120568734Rat
61431Cia19Collagen induced arthritis QTL 194.4joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)X65612192120568734Rat
738035Stresp1Stress response QTL 14.960.000011stress-related behavior trait (VT:0010451)defensive burying - copingX41304447112935181Rat
1598837Memor13Memory QTL 133.2exploratory behavior trait (VT:0010471)difference between duration of physical contact or close proximity of test subject and social stimulus during sample phase and test phase (CMO:0002678)X41052407146860749Rat

Markers in Region
AU048937  
Rat AssemblyChrPosition (strand)SourceJBrowse
Rnor_5.0X76,072,555 - 76,072,655UniSTSRnor5.0
RGSC_v3.4X92,408,550 - 92,408,650UniSTSRGSC3.4
RGSC_v3.4X92,408,550 - 92,408,658UniSTSRGSC3.4
CeleraX70,769,613 - 70,769,713UniSTS
CeleraX70,769,613 - 70,769,721UniSTS
Cytogenetic MapXq31UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 165 91 90 59 92 59 6 356 192 11 144 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000003739   ⟹   ENSRNOP00000003739
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 EnsemblX75,150,611 - 75,291,938 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000083655   ⟹   ENSRNOP00000074489
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX73,361,310 - 73,502,547 (-)Ensembl
mRatBN7.2 EnsemblX69,295,552 - 69,436,858 (-)Ensembl
Rnor_6.0 EnsemblX75,150,611 - 75,291,938 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000089809   ⟹   ENSRNOP00000075348
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX69,295,552 - 69,370,201 (-)Ensembl
Rnor_6.0 EnsemblX75,150,608 - 75,224,268 (-)Ensembl
RefSeq Acc Id: NM_212518   ⟹   NP_997683
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X73,361,296 - 73,502,464 (-)NCBI
mRatBN7.2X69,295,598 - 69,436,775 (-)NCBI
Rnor_6.0X75,150,511 - 75,291,950 (-)NCBI
Rnor_5.0X75,954,591 - 76,094,049 (-)NCBI
RGSC_v3.4X92,280,115 - 92,430,426 (-)RGD
CeleraX70,651,391 - 70,791,324 (-)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_997683 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAF18435 (Get FASTA)   NCBI Sequence Viewer  
  EDM07164 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000074489
GenBank Protein Q704E8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_997683   ⟸   NM_212518
- UniProtKB: Q704E8 (UniProtKB/Swiss-Prot),   A0A0G2K866 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000075348   ⟸   ENSRNOT00000089809
Ensembl Acc Id: ENSRNOP00000074489   ⟸   ENSRNOT00000083655
Ensembl Acc Id: ENSRNOP00000003739   ⟸   ENSRNOT00000003739
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q704E8-F1-model_v2 AlphaFold Q704E8 1-752 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13701896
Promoter ID:EPDNEW_R12418
Type:multiple initiation site
Name:Abcb7_1
Description:ATP binding cassette subfamily B member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0X75,291,948 - 75,292,008EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1303086 AgrOrtholog
BioCyc Gene G2FUF-1989 BioCyc
Ensembl Genes ENSRNOG00000002790 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000083655 ENTREZGENE
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ABC1_TM_dom UniProtKB/Swiss-Prot
  ABC1_TM_sf UniProtKB/Swiss-Prot
  ABC_transporter-like UniProtKB/Swiss-Prot
  ABC_transporter_CS UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  Type_I_exporter UniProtKB/Swiss-Prot
KEGG Report rno:302395 UniProtKB/Swiss-Prot
NCBI Gene 302395 ENTREZGENE
PANTHER IRON-SULFUR CLUSTERS TRANSPORTER ABCB7, MITOCHONDRIAL UniProtKB/Swiss-Prot
  PTHR24221 UniProtKB/Swiss-Prot
Pfam ABC_membrane UniProtKB/Swiss-Prot
  ABC_tran UniProtKB/Swiss-Prot
PhenoGen Abcb7 PhenoGen
PROSITE ABC_TM1F UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000002790 RatGTEx
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
  SSF90123 UniProtKB/Swiss-Prot
UniProt A0A0G2K866 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2KAC7_RAT UniProtKB/TrEMBL
  A6IV16_RAT UniProtKB/TrEMBL
  ABCB7_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-09 Abcb7  ATP binding cassette subfamily B member 7  Abcb7  ATP-binding cassette, subfamily B (MDR/TAP), member 7  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2010-11-16 Abcb7  ATP-binding cassette, subfamily B (MDR/TAP), member 7  Abcb7  ATP-binding cassette, sub-family B (MDR/TAP), member 7  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-03-30 Abcb7  ATP-binding cassette, sub-family B (MDR/TAP), member 7  abcb7  ATP-binding cassette, sub-family B, member 7, mitochondrial precursor  Name updated 1299863 APPROVED
2005-02-14 abcb7  ATP-binding cassette, sub-family B, member 7, mitochondrial precursor      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_disease mutation of the human homolog is detected in individuals with the X-linked disease sideroblastic anemia 1304523