Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  ATP-binding cassette sub-family B member 6, mitochondrial  

UniProtKB / Swiss-Prot ID :  ABCB6_HUMAN

Gene Name (Synonyms) : 
ABCB6, MTABC3, PRP, UMAT  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. 

Protein Function :  Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. 

Transmembrane Topology (topPTM) : ABCB6_HUMAN 

Protein Sequence MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGADSLSWGAGPRI...
Predicted Secondary Structure CCCCCCCCCCCCCCCHHHHHCCCCHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCCCCCCCCCH...
Protein Variant
LocationDescription
57A -> T (in MCOPCB7; hypomorphicmutation).
69R -> G (in a breast cancer sample;somatic mutation).
293L -> V (in dbSNP:rs13018440). VAR_047552
343R -> Q (in dbSNP:rs60322991). VAR_060986
648R -> Q (in dbSNP:rs13402964). VAR_029749
811L -> V (in MCOPCB7; hypomorphicmutation).
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
464Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)FETVKYYNA
HHHHHHHCC
49.81Phosphositeplus
Link-
482Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)EAIIKYQGL
HHHHHHHHH
25.96Phosphositeplus
Link-
618PhosphothreonineMPGQTLALV
CCCEEEEEE
21.66HPRD
Link
743Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)RTILKAPGI
HHHHHCCCE
49.00Phosphositeplus
Link
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
There are no Protein-Protein Interactions.
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Disease Reference
Kegg disease
OMIM disease
614497Microphthalmia, isolated, with coloboma, 7 (MCOPCB7)
615402Dyschromatosis universalis hereditaria 3 (DUH3)
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures