Property Summary

NCBI Gene PubMed Count 23
PubMed Score 39.91
PubTator Score 309.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.200 1.4e-02
group 3 medulloblastoma 1.200 1.2e-03
ovarian cancer -1.600 2.5e-08

Gene RIF (5)

PMID Text
23070040 findings support that ABCB7 is implicated in the phenotype of acquired RARS and suggest a relation between SF3B1 mutations and ABCB7 downregulation
22398176 We describe a fourth family with X-linked sideroblastic anemia and ataxia and a novel mutation in the ABCB7 gene
21380928 loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13.
19343046 Observational study of gene-disease association. (HuGE Navigator)
18398482 ABCB7 may have a role in refractory anemia with ring sideroblasts

AA Sequence

MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLG      1 - 70
KGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARV     71 - 140
AISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVR    141 - 210
NAVFGKVAQNSIRRIAKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVML    211 - 280
VSGVLYYKCGAQFALVTLGTLGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNER    281 - 350
YEAQRYDGFLKTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQL    351 - 420
SLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSG    421 - 490
ISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHN    491 - 560
TIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDTQVGERGLKLSGGEKQRVAIARAILKDPPVI    561 - 630
LYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSI    631 - 700
YSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNCSC                      701 - 752
//

Text Mined References (26)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
23070040 2013 The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.
22398176 2012 X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.
21380928 2011 Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13).
21269460 2011 Initial characterization of the human central proteome.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
18398482 2008 The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12480705 2003 Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11843825 2001 X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
11050011 2000 Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
10196363 1999 Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).
9883897 1998 Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p.
9653160 1998 Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.
9621516 1998 Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.
9143506 1997 Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.
8894702 1996 Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.