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

Gene ID: 22, updated on 3-Jun-2018
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; 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]
Expression
Ubiquitous expression in duodenum (RPKM 8.8), heart (RPKM 7.5) and 25 other tissues See more
Orthologs
See ABCB7 in Genome Data Viewer
Location:
Xq13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (75053280..75156340, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (74273007..74376175, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 330, pseudogene Neighboring gene neurite extension and migration factor Neighboring gene uracil phosphoribosyltransferase homolog Neighboring gene RNA, U6 small nuclear 562, pseudogene Neighboring gene BUD31 homolog pseudogene 2

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 IEA
Inferred from Electronic Annotation
more info
 
heme transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cellular iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
Preferred Names
ATP-binding cassette sub-family B member 7, mitochondrial
Names
ABC transporter 7 protein
ATP-binding cassette transporter 7
ATP-binding cassette, sub-family B (MDR/TAP), member 7

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

  1. NG_007980.3 RefSeqGene

    Range
    5001..110236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1162

mRNA and Protein(s)

  1. NM_001271696.2NP_001258625.1  ATP-binding cassette sub-family B member 7, 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, BP228998
    Consensus CDS
    CCDS65291.1
    UniProtKB/Swiss-Prot
    O75027
    Related
    ENSP00000362492.3, OTTHUMP00000023579, ENST00000373394.7
    Conserved Domains (3) summary
    cd03253
    Location:472708
    ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
    COG5265
    Location:210705
    ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
    pfam00664
    Location:150424
    ABC_membrane; ABC transporter transmembrane region
  2. NM_001271697.2NP_001258626.1  ATP-binding cassette sub-family B member 7, 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/Swiss-Prot
    O75027
    Related
    ENSP00000343849.4, OTTHUMP00000235673, ENST00000339447.8
    Conserved Domains (3) summary
    cd03253
    Location:432668
    ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
    COG5265
    Location:170665
    ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
    pfam00664
    Location:111384
    ABC_membrane; ABC transporter transmembrane region
  3. NM_001271698.2NP_001258627.1  ATP-binding cassette sub-family B member 7, 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, BP228998
    Related
    ENSP00000436586.1, OTTHUMP00000235628, ENST00000529949.5
    Conserved Domains (3) summary
    cd03253
    Location:446682
    ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
    COG5265
    Location:184679
    ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
    pfam00664
    Location:124398
    ABC_membrane; ABC transporter transmembrane region
  4. NM_001271699.2NP_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)
    AA403157, AK307414, BP228998
    Consensus CDS
    CCDS75994.1
    UniProtKB/TrEMBL
    A0A087WW65
    Related
    ENSP00000479985.1, ENST00000620875.5
    Conserved Domains (3) summary
    cd03253
    Location:433669
    ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
    COG5265
    Location:171666
    ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
    pfam00664
    Location:112385
    ABC_membrane; ABC transporter transmembrane region
  5. NM_004299.6NP_004290.2  ATP-binding cassette sub-family B member 7, 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/Swiss-Prot
    O75027
    UniProtKB/TrEMBL
    A0A0S2Z2Z3
    Related
    ENSP00000253577.3, OTTHUMP00000023578, ENST00000253577.8
    Conserved Domains (3) summary
    cd03253
    Location:473709
    ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C
    COG5265
    Location:211706
    ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
    pfam00664
    Location:151425
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    75053280..75156340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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