Abcb7 (ATP-binding cassette, sub-family B member 7) - Rat Genome Database

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Gene: Abcb7 (ATP-binding cassette, sub-family B member 7) Mus musculus
Analyze
Symbol: Abcb7
Name: ATP-binding cassette, sub-family B member 7
RGD ID: 1550653
MGI Page MGI
Description: Predicted to enable ABC-type iron-sulfur cluster transporter activity and protein homodimerization activity. Involved in several processes, including intracellular iron ion homeostasis; positive regulation of heme biosynthetic process; and positive regulation of iron-sulfur cluster assembly. Located in mitochondrial inner membrane. Is expressed in several structures, including adrenal gland; central nervous system; gut; hemolymphoid system gland; and retina. 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AA517758; Abc; ABC transporter 7 protein; Abc7; ATP-binding cassette 7; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; AU019072; iron-sulfur clusters transporter ABCB7, mitochondrial
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X103,324,171 - 103,457,452 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX103,324,263 - 103,457,462 (-)EnsemblGRCm39 Ensembl
GRCm38X104,280,565 - 104,413,846 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX104,280,657 - 104,413,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X101,475,904 - 101,609,185 (-)NCBIGRCm37MGSCv37mm9NCBIm37
CeleraX91,172,735 - 91,305,783 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX46.58NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

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

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype 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. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, etal., Development 2000 Apr;127(8):1737-49.
5. 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.
6. 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.
7. MGDs mouse GO annotations MGD data from the GO Consortium
8. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Mouse MP Annotation Import Pipeline RGD automated import pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Savary S, etal., Genomics 1997 Apr 15;41(2):275-8.
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:10589829   PMID:10708515   PMID:10922068   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11544199   PMID:12477932   PMID:12480705   PMID:12865426  
PMID:12904583   PMID:14651853   PMID:14681479   PMID:16141072   PMID:16141073   PMID:16424901   PMID:16467350   PMID:16602821   PMID:16916647   PMID:17192398   PMID:19571810   PMID:19691493  
PMID:21267068   PMID:21471155   PMID:21873635   PMID:25651183   PMID:25737280   PMID:26287972   PMID:29101321   PMID:30550785   PMID:30765471   PMID:32325033   PMID:34762046   PMID:36114006  


Genomics

Comparative Map Data
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 Ensembl
GRCm38X104,280,565 - 104,413,846 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX104,280,657 - 104,413,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X101,475,904 - 101,609,185 (-)NCBIGRCm37MGSCv37mm9NCBIm37
CeleraX91,172,735 - 91,305,783 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX46.58NCBI
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 (-)EnsemblGRCh38hg38GRCh38
GRCh37X74,270,883 - 74,376,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,189,830 - 74,292,857 (-)NCBINCBI36Build 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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X73,361,296 - 73,502,464 (-)NCBIGRCr8
mRatBN7.2X69,295,598 - 69,436,775 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX69,295,552 - 69,436,858 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX70,804,692 - 70,945,868 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X74,304,987 - 74,446,162 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X71,866,179 - 72,007,358 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X75,150,511 - 75,291,950 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX75,150,608 - 75,291,938 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X75,954,591 - 76,094,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X92,280,115 - 92,430,426 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X92,353,547 - 92,503,859 (-)NCBI
CeleraX70,651,391 - 70,791,324 (-)NCBICelera
Cytogenetic MapXq22NCBI
Abcb7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555621,077,198 - 1,221,061 (-)EnsemblChiLan1.0
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 (-)Ensemblpanpan1.1panPan2
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 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX49,482,770 - 49,647,336 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X59,542,308 - 59,707,158 (-)NCBIROS_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_1.0
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 (-)EnsemblSpeTri2.0SpeTri2.0 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 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
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_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248365,605,901 - 5,769,488 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Abcb7
3082 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2139
Count of miRNA genes:805
Interacting mature miRNAs:1096
Transcripts:ENSMUST00000033695, ENSMUST00000140333
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4141630Gct6_mgranulosa cell tumorigenesis 6 (mouse)Not determined47179121129764756Mouse
13208552Wght12_mweight 12 (mouse)X94043606149782996Mouse
4141803Lmr30_mleishmaniasis resistance 30 (mouse)Not determined85062606119062720Mouse
13208556Lgth14_mbody length 14 (mouse)X94043606149782996Mouse
13824980Ferq1_mgenetic fertility QTL 1 (mouse)X54045360148782996Mouse
11075102Modc2_mmodifier of Odc2 (mouse)X80189914114190059Mouse
1357500Mdmsc6_mmodifier of muscularity 6 (mouse)Not determinedX75306671109306758Mouse
1357823Spha3_msperm head anomaly 3 (mouse)Not determinedX102055848162758941Mouse
1357433Dbts2_mdiabetes 2 (mouse)Not determinedX7226295150107038Mouse
4141665Mhysq2_mmale hybrid sterility QTL 2 (mouse)Not determined71453852139203212Mouse

Markers in Region
AW537380  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X104,281,152 - 104,281,253UniSTSGRCm38
MGSCv37X101,476,491 - 101,476,592UniSTSGRCm37
CeleraX91,173,322 - 91,173,423UniSTS
Cytogenetic MapXC-DUniSTS
Whitehead/MRC_RH4706.96UniSTS
AU019072  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X104,284,059 - 104,284,175UniSTSGRCm38
MGSCv37X101,479,398 - 101,479,514UniSTSGRCm37
CeleraX91,176,229 - 91,176,345UniSTS
Cytogenetic MapXC-DUniSTS
RH124283  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X104,280,734 - 104,281,018UniSTSGRCm38
MGSCv37X101,476,073 - 101,476,357UniSTSGRCm37
CeleraX91,172,904 - 91,173,188UniSTS
Cytogenetic MapXC-DUniSTS
UniSTS:225264  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X104,283,812 - 104,283,989UniSTSGRCm38
MGSCv37X101,479,151 - 101,479,328UniSTSGRCm37
CeleraX91,175,982 - 91,176,159UniSTS
Cytogenetic MapXC-DUniSTS
Vcp-rs  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X104,347,885 - 104,348,229UniSTSGRCm38
MGSCv37X101,543,224 - 101,543,568UniSTSGRCm37
CeleraX91,239,695 - 91,240,039UniSTS
Cytogenetic Map4A5UniSTS
Cytogenetic MapXC-DUniSTS
cM MapX45.5UniSTS


Sequence


Ensembl Acc Id: ENSMUST00000033695   ⟹   ENSMUSP00000033695
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX103,324,263 - 103,457,452 (-)Ensembl
GRCm38.p6 EnsemblX104,280,657 - 104,413,846 (-)Ensembl
Ensembl Acc Id: ENSMUST00000140333
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX103,385,872 - 103,457,462 (-)Ensembl
GRCm38.p6 EnsemblX104,342,266 - 104,413,856 (-)Ensembl
RefSeq Acc Id: NM_009592   ⟹   NP_033722
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X103,324,171 - 103,457,452 (-)NCBI
GRCm38X104,280,565 - 104,413,846 (-)ENTREZGENE
MGSCv37X101,475,904 - 101,609,185 (-)RGD
CeleraX91,172,735 - 91,305,783 (-)RGD
cM MapX ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_033722 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC53152 (Get FASTA)   NCBI Sequence Viewer  
  AAI51038 (Get FASTA)   NCBI Sequence Viewer  
  BAE30838 (Get FASTA)   NCBI Sequence Viewer  
  BAE31291 (Get FASTA)   NCBI Sequence Viewer  
  BAE31519 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000033695
  ENSMUSP00000033695.6
GenBank Protein Q61102 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_033722   ⟸   NM_009592
- UniProtKB: A2AC46 (UniProtKB/Swiss-Prot),   Q3U7S8 (UniProtKB/Swiss-Prot),   Q61102 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSMUSP00000033695   ⟸   ENSMUST00000033695
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q61102-F1-model_v2 AlphaFold Q61102 1-752 view protein structure

Promoters
RGD ID:13681150
Promoter ID:EPDNEW_M24724
Type:multiple initiation site
Name:Abcb7_1
Description:Mus musculus ATP-binding cassette, sub-family B (MDR/TAP), member7 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X104,413,834 - 104,413,894EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:109533 AgrOrtholog
Ensembl Genes ENSMUSG00000031333 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000033695 ENTREZGENE
  ENSMUST00000033695.6 UniProtKB/Swiss-Prot
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 mmu:11306 UniProtKB/Swiss-Prot
MGD MGI:109533 ENTREZGENE
NCBI Gene 11306 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
PharmGKB ABCB7 RGD
PhenoGen Abcb7 PhenoGen
PROSITE ABC_TM1F UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
  SSF90123 UniProtKB/Swiss-Prot
UniProt A2AC46 ENTREZGENE
  ABCB7_MOUSE UniProtKB/Swiss-Prot
  Q3U7S8 ENTREZGENE
  Q61102 ENTREZGENE
UniProt Secondary A2AC46 UniProtKB/Swiss-Prot
  Q3U7S8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-27 Abcb7  ATP-binding cassette, sub-family B member 7  Abcb7  ATP-binding cassette, sub-family B (MDR/TAP), member 7  Symbol and/or name change 5135510 APPROVED