ABCB7 ATP binding cassette subfamily B member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCB7provided by HGNC
Official Full Name: ATP binding cassette subfamily B member 7provided by HGNC
Primary source: HGNC:HGNC:48
See related: Ensembl:ENSG00000131269 MIM:300135; AllianceGenome:HGNC:48
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]
Expression: Ubiquitous expression in duodenum (RPKM 8.8), heart (RPKM 7.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (75051048..75156283, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (73484682..73589943, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (74270883..74376118, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-beta/Smad signaling.
Title: Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-β/Smad signaling.
Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.
Title: Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.
Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.
Title: Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.
Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.
Title: Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)(4) cluster exporter and the molecular mechanism of an E433K disease-causing mutation.
ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1alpha-driven NFkappaB signaling.
Title: ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1α-driven NFκB signaling.
ABCB7 and ABCB10 homodimers form an architecturally defined molecular complex required for heme biosynthesis
Title: Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.
data support a model in which cycloheximide -induced downregulation of the iron exporter ABCB7 mRNA transcript resulting from aberrant splicing caused by mutant SF3B1 underlies the increased mitochondrial iron accumulation found in MDS patients with ring sideroblasts
Title: Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes.
A missense mutation in the ABCB7 is a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia.
Title: Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
findings support that ABCB7 is implicated in the phenotype of acquired RARS and suggest a relation between SF3B1 mutations and ABCB7 downregulation
Title: The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.
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.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Associated conditions

Description	Tests
X-linked sideroblastic anemia with ataxia MedGen: C1845028 OMIM: 301310 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:99415

RH102593 (e-PCR)
- UniSTS:96927

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type iron-sulfur cluster transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables heme transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in heme transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in iron ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in iron-sulfur cluster assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in iron-sulfur cluster export from the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of heme biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of heme biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of iron-sulfur cluster assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of iron-sulfur cluster assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: iron-sulfur clusters transporter ABCB7, mitochondrial

Names: 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

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_007980.3 RefSeqGene

Range

5001..110236

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1162

mRNA and Protein(s)

NM_001271696.3 → NP_001258625.1 iron-sulfur clusters transporter ABCB7, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001258625.1

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)

AA403157, AF133659, AL359545, BP228998

Consensus CDS

CCDS65291.1

UniProtKB/Swiss-Prot

G3XAC4, O75027, O75345, Q5VWY7, Q5VWY8, Q9BRE1, Q9UND1, Q9UP01

UniProtKB/TrEMBL

A0A5F9ZA98

Related

ENSP00000362492.3, ENST00000373394.8

Conserved Domains (3) summary

cd03253
Location:472 → 708

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C

COG5265
Location:210 → 705

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

pfam00664
Location:150 → 424

ABC_membrane; ABC transporter transmembrane region
NM_001271697.3 → NP_001258626.1 iron-sulfur clusters transporter ABCB7, mitochondrial isoform 3

See identical proteins and their annotated locations for NP_001258626.1

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)

AA403157, AL359545, BP228998, BX537833

Consensus CDS

CCDS65290.1

UniProtKB/TrEMBL

A0A5F9ZA98

Related

ENSP00000343849.4, ENST00000339447.8

Conserved Domains (3) summary

cd03253
Location:432 → 668

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C

COG5265
Location:170 → 665

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

pfam00664
Location:111 → 384

ABC_membrane; ABC transporter transmembrane region
NM_001271698.3 → NP_001258627.1 iron-sulfur clusters transporter ABCB7, mitochondrial isoform 4

See identical proteins and their annotated locations for NP_001258627.1

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)

AA403157, AK294657, AL359545, BP228998

UniProtKB/TrEMBL

B4DGL8

Related

ENSP00000436586.1, ENST00000529949.5

Conserved Domains (3) summary

cd03253
Location:446 → 682

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C

COG5265
Location:184 → 679

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

pfam00664
Location:124 → 398

ABC_membrane; ABC transporter transmembrane region
NM_001271699.3 → NP_001258628.1 iron-sulfur clusters transporter ABCB7, 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)

AA403157, AK307414, AL359545, BP228998

Consensus CDS

CCDS75994.1

UniProtKB/TrEMBL

A0A087WW65, A0A5F9ZA98

Related

ENSP00000479985.1, ENST00000620875.5

Conserved Domains (3) summary

cd03253
Location:433 → 669

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C

COG5265
Location:171 → 666

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

pfam00664
Location:112 → 385

ABC_membrane; ABC transporter transmembrane region
NM_004299.6 → NP_004290.2 iron-sulfur clusters transporter ABCB7, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_004290.2

Status: REVIEWED

Description

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

Source sequence(s)

AA403157, AK001418, AL359545

Consensus CDS

CCDS14428.1

UniProtKB/TrEMBL

A0A0S2Z2Z3, A0A5F9ZA98

Related

ENSP00000253577.3, ENST00000253577.9

Conserved Domains (3) summary

cd03253
Location:473 → 709

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C

COG5265
Location:211 → 706

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

pfam00664
Location:151 → 425

ABC_membrane; ABC transporter transmembrane region