ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: ABCB7provided by HGNC
Official Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 7provided by HGNC
Primary source: HGNC:48
See related: Ensembl:ENSG00000131269; HPRD:02137; MIM:300135; Vega:OTTHUMG00000021862
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABC7; ASAT; Atm1p; EST140535
Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

Genomic context

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Location :: Xq13.3

Sequence :: Chromosome: X; NC_000023.10 (74273105..74376132, complement)

See ABCB7 in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

We describe a fourth family with X-linked sideroblastic anemia and ataxia and a novel mutation in the ABCB7 gene
Title: X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.
loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13.
Title: Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13).
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
ABCB7 may have a role in refractory anemia with ring sideroblasts
Title: The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Anemia sideroblastic and spinocerebellar ataxia

MIM: 301310

Genetic Testing Registry

Summary from GeneReviews: X-Linked Sideroblastic Anemia and Ataxia

Sideroblastic anemia and ataxia (XLSA/A) is characterized by moderate anemia and early-onset spinocerebellar syndrome in males manifesting primarily as ataxia, dysmetria, and dysdiadochokinesis. Dysarthria and intention tremor are mild when present. The ataxia has been described to be either non-progressive or slowly progressive. Upper motor neuron (UMN) signs in the legs, manifest by brisk deep tendon reflexes, unsustained ankle clonus, and equivocal or extensor plantar responses, are present in some males. Need for crutches or a wheelchair has been reported. Strabismus is seen in some males. Nystagmus and hypometric saccades may occur. Mild learning disability and depression are seen. The anemia is mild and does not cause symptoms. Carrier females have a normal neurologic examination.

Diagnosis Testing

The diagnosis of XLSA/A is made in males by neurologic examination and presence of moderate hypochromic and microcytic anemia, ring sideroblasts on bone marrow examination, and elevated free erythrocyte protoporphyrin levels. Brain MRI shows cerebellar atrophy/hypoplasia. Females may have a dimorphic blood smear with both hypochromic microcytic red blood cells and normal red blood cells; they may have ring sideroblasts on bone marrow examination. Molecular genetic testing of ABCB7, the only gene known to be associated with XLSA/A, is available clinically.

Genetic Counseling

XLSA/A is inherited in an X-linked manner. Carrier females have a 50% chance of transmitting the mutation in each pregnancy. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will usually not be affected. Males with XLSA/A will pass the disease-causing mutation to all of their daughters and none of their sons. Carrier testing of at-risk female relatives is possible if the disease-causing mutation in the family is known. Prenatal testing may be available through laboratories offering custom prenatal testing if the disease-causing mutation in the family is known.

References

PMID: 20301496

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
O75027	P22830	FECH	HPRD	PubMed
BioGRID:106540	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:106540	BioGRID:119513	ATP6V1D	BioGRID	PubMed	Co-fractionation
BioGRID:106540	BioGRID:108526	FECH	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106540	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106540	BioGRID:125910	MRPL10	BioGRID	PubMed	Co-fractionation
BioGRID:106540	BioGRID:117286	MTCH1	BioGRID	PubMed	Co-fractionation
BioGRID:106540	BioGRID:110792	NDUFB6	BioGRID	PubMed	Co-fractionation
BioGRID:106540	BioGRID:111136	PCK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106540	BioGRID:115333	PDCD6	BioGRID	PubMed	Co-fractionation
BioGRID:106540	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106540	BioGRID:113230	UQCRC1	BioGRID	PubMed	Co-fractionation

Pathways from BioSystems

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ABC transporters, organism-specific biosystem (from KEGG)
ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
ABC transporters, conserved biosystem (from KEGG)
ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
Cytosolic Iron-sulfur Cluster Assembly, organism-specific biosystem (from REACTOME)
Cytosolic Iron-sulfur Cluster Assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Mitochondrial ABC transporters, organism-specific biosystem (from REACTOME)
Mitochondrial ABC transporters, organism-specific biosystemMammalian ABC transporters are usually found on the plasma membrane and on organelles such as the ER and peroxisome but a small number are also located on the mitochondria. Here they are thought to p...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules

General gene information

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Markers

NoName (e-PCR)
- UniSTS:99415

RH102593 (e-PCR)
- UniSTS:96927

WI-11286 (e-PCR)
- UniSTS:60847

Genotypes

See ABCB7 SNP Geneview Report
See ABCB7 SNP Genotype Report
See ABCB7 SNP Variation Viewer Report

Homology

Homologs of the ABCB7 gene: The ABCB7 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and A.thaliana.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ATPase activity, coupled to transmembrane movement of substances	IBA Inferred from Biological aspect of Ancestor more info
heme transporter activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
cellular iron ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
heme transport	TAS Traceable Author Statement more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
transmembrane transport	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info
integral to membrane	IBA Inferred from Biological aspect of Ancestor more info
mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ATP-binding cassette sub-family B member 7, mitochondrial

Names: ATP-binding cassette sub-family B member 7, mitochondrial; ABC transporter 7 protein; ATP-binding cassette transporter 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007980.1 RefSeqGene

Range

4958..108126

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271696.1 → NP_001258625.1 ATP-binding cassette sub-family B member 7, mitochondrial isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AF133659, BP228998, CN411218

UniProtKB/Swiss-Prot

O75027

Conserved Domains (3) summary

COG5265
Location:210 – 705
Blast Score: 1515

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

pfam00664
Location:140 – 411
Blast Score: 265

ABC_membrane; ABC transporter transmembrane region

cd03253
Location:472 – 708
Blast Score: 1057

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
NM_001271697.1 → NP_001258626.1 ATP-binding cassette sub-family B member 7, mitochondrial isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AL359545, BP228998, BX537833, CN411218

UniProtKB/TrEMBL

G3XAC4

UniProtKB/TrEMBL

Q7Z3K5

Conserved Domains (3) summary

COG5265
Location:170 – 665
Blast Score: 1517

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

cl00549
Location:111 – 371
Blast Score: 257

ABC_membrane; ABC transporter transmembrane region

cd03253
Location:432 – 668
Blast Score: 1059

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
NM_001271698.1 → NP_001258627.1 ATP-binding cassette sub-family B member 7, mitochondrial isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.

Source sequence(s)

AK294657, BC006323, BP228998, CN411218

UniProtKB/TrEMBL

B4DGL8

UniProtKB/Swiss-Prot

O75027

Conserved Domains (3) summary

COG5265
Location:184 – 679
Blast Score: 1514

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

pfam00664
Location:114 – 385
Blast Score: 264

ABC_membrane; ABC transporter transmembrane region

cd03253
Location:446 – 682
Blast Score: 1057

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
NM_001271699.1 → NP_001258628.1 ATP-binding cassette sub-family B member 7, mitochondrial isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame internal exon, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1.

Source sequence(s)

AK307414, BP228998, CN411218, U66679

Conserved Domains (3) summary

COG5265
Location:171 – 666
Blast Score: 1517

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

cl00549
Location:112 – 372
Blast Score: 257

ABC_membrane; ABC transporter transmembrane region

cd03253
Location:433 – 669
Blast Score: 1059

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
NM_004299.4 → NP_004290.2 ATP-binding cassette sub-family B member 7, mitochondrial isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC006323, BP228998, CN411218

Consensus CDS

CCDS14428.1

UniProtKB/Swiss-Prot

O75027

Related

ENSP00000253577, OTTHUMP00000023578, ENST00000253577, OTTHUMT00000057273

Conserved Domains (3) summary

COG5265
Location:211 – 706
Blast Score: 1516

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

cd03253
Location:473 – 709
Blast Score: 969

ABCC_ATM1_transporter; ATM1 is an ABC transporter that is expressed in the mitochondria. Although the specific function of ATM1 is unknown, its disruption results in the accumulation of excess mitochondrial iron, loss of mitochondrial cytochromes, oxidative damage to ...

pfam00664
Location:141 – 412
Blast Score: 265

ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p10 Primary Assembly

Range

74273105..74376132, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

67906657..68009965, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018934.1 Alternate CHM1_1.0

Range

74281193..74384225, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01059486.1	None
genomic	ABBA01059487.1	None
genomic	ABBA01059488.1	None
genomic	ABBA01059489.1	None
genomic	ABBA01059490.1	None
genomic	ABBA01059491.1	None
genomic	ABBA01059492.1	None
genomic	ABBA01059493.1	None
genomic	ABBA01059494.1	None
genomic	ABBA01059495.1	None
genomic	ABBA01059496.1	None
genomic	ABBA01059497.1	None
genomic	AF241887.1	AAK20173.1
genomic	AL359545.12 (89455..127243)	None
genomic	AL360179.8 (101..65245)	None
genomic	AL590232.3 (101..194)	None
genomic	AMYH01022615.1 (640550..743582)	None
genomic	CH471104.2	EAW98632.1
		EAW98633.1
		EAW98634.1
		EAW98635.1
		EAW98636.1
		EAW98637.1
mRNA	AF038950.1	AAC39865.1
mRNA	AF078777.1	AAD47141.1
mRNA	AF133659.1	AAD33045.1
mRNA	AK001418.1	BAG50910.1
mRNA	AK294657.1	BAG57829.1
mRNA	AK307414.1	None
mRNA	BC006323.2	AAH06323.1
mRNA	BG722908.1	None
mRNA	BP228998.1	None
mRNA	BQ630948.1	None
mRNA	BT009918.1	AAP88920.1
mRNA	BX537833.1	CAD97847.1
mRNA	CN411218.1	None
mRNA	U66679.1	None
other-genetic	DQ890692.2	ABM81618.1
other-genetic	EU176476.1	ABW03277.1