UniProt:Q9NP58 ABCB6

chain
  • chain:1-842
checksum E63A7D59DCE5B9ED
comment
  • FUNCTION Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.SUBUNIT Homodimer.TISSUE SPECIFICITY Widely expressed. High expression is detected in the retinal epithelium.DEVELOPMENTAL STAGE Highly expressed in fetal liver.INDUCTION Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level).POLYMORPHISM Genetic variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features.MISCELLANEOUS Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis.SIMILARITY Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
crossReference
databaseName UniProt
dbId 49418
description
  • recommendedName: ATP-binding cassette sub-family B member 6, mitochondrial alternativeName: Mitochondrial ABC transporter 3 shortName:Mt-ABC transporter 3 alternativeName: P-glycoprotein-related protein alternativeName: Ubiquitously-expressed mammalian ABC half transporter
displayName UniProt:Q9NP58 ABCB6
geneName
  • ABCB6
  • MTABC3
  • PRP
  • UMAT
identifier Q9NP58
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • ATP-binding
  • Cell membrane
  • Disease variant
  • Dyskeratosis congenita
  • Endoplasmic reticulum
  • Endosome
  • Golgi apparatus
  • Membrane
  • Microphthalmia
  • Mitochondrion
  • Mitochondrion outer membrane
  • Nucleotide-binding
  • Reference proteome
  • Transmembrane
  • Transmembrane helix
  • Transport
modified [InstanceEdit:11703684] Shorser, Solomon, 2021-05-28
name
  • ABCB6
otherIdentifier
  • 0002360347
  • 10058
  • 11716187_a_at
  • 11751468_a_at
  • 16908618
  • 16908650
  • 203192_at
  • 2599994
  • 2599995
  • 2599996
  • 2599997
  • 2599998
  • 2599999
  • 2600001
  • 2600004
  • 2600005
  • 2600007
  • 2600009
  • 2600011
  • 2600012
  • 2600013
  • 2600014
  • 2600016
  • 2600018
  • 2600020
  • 2600022
  • 2600024
  • 2600025
  • 2600026
  • 2600027
  • 2600028
  • 2600029
  • 2600030
  • 2600031
  • 2600032
  • 2600033
  • 2600034
  • 39805_at
  • 8059111
  • A_23_P5441
  • GE54700
  • GO:0000139
  • GO:0000166
  • GO:0003674
  • GO:0005524
  • GO:0005575
  • GO:0005576
  • GO:0005615
  • GO:0005622
  • GO:0005634
  • GO:0005654
  • GO:0005737
  • GO:0005739
  • GO:0005740
  • GO:0005741
  • GO:0005764
  • GO:0005765
  • GO:0005768
  • GO:0005773
  • GO:0005774
  • GO:0005783
  • GO:0005789
  • GO:0005794
  • GO:0005829
  • GO:0005886
  • GO:0006778
  • GO:0006779
  • GO:0006810
  • GO:0006878
  • GO:0006879
  • GO:0006950
  • GO:0007420
  • GO:0008150
  • GO:0009058
  • GO:0010008
  • GO:0015439
  • GO:0015562
  • GO:0015886
  • GO:0016020
  • GO:0016021
  • GO:0016887
  • GO:0020037
  • GO:0022607
  • GO:0022857
  • GO:0031307
  • GO:0031410
  • GO:0031901
  • GO:0031902
  • GO:0032585
  • GO:0032991
  • GO:0033013
  • GO:0033162
  • GO:0034641
  • GO:0035351
  • GO:0036020
  • GO:0042168
  • GO:0042592
  • GO:0042626
  • GO:0043167
  • GO:0043190
  • GO:0043226
  • GO:0043473
  • GO:0043588
  • GO:0046906
  • GO:0048856
  • GO:0055085
  • GO:0070062
  • GO:0098849
  • GO:0140359
  • GO:1903232
  • HMNXSV003017238
  • ILMN_1653933
  • ILMN_2193980
  • PH_hs_0005982
  • TC02005056.hg
  • g9955962_3p_at
  • g9955962_3p_x_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • ABCB6_HUMAN
  • O75542
  • Q49A66
  • Q59GQ5
  • Q6ZME6
  • Q96ME8
  • Q9HAQ6
  • Q9HAQ7
sequenceLength 842
species [Species:48887] Homo sapiens
url http://purl.uniprot.org/uniprot/Q9NP58
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