Property Summary

NCBI Gene PubMed Count 23
Grant Count 15
R01 Count 12
Funding $1,552,406.21
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 0.014
group 3 medulloblastoma 1.200 0.001
ovarian cancer -1.600 0.000

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.
More...