InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCB6

Summary

InnateDB Protein

IDBP-81347.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCB6

Protein Name

ATP-binding cassette, sub-family B (MDR/TAP), member 6

Synonyms

ABC; ABC14; DUH3; LAN; MCOPCB7; MTABC3; PRP; umat;

Species

Homo sapiens

Ensembl Protein

ENSP00000265316

InnateDB Gene

IDBG-81345 (ABCB6)

Protein Structure

UniProt Annotation

Function

Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. {ECO:0000269PubMed:10837493, ECO:0000269PubMed:17006453}.

Subcellular Localization

Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Endosome {ECO:0000250}. Note=localized to the endosome- like compartement and dendrite tips.

Disease Associations

Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269PubMed:22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269PubMed:23519333, ECO:0000269PubMed:24224009, ECO:0000269PubMed:24498303}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570). {ECO:0000269PubMed:23180570}.

Tissue Specificity

Widely expressed. High expression is detected in the retinal epithelium. {ECO:0000269PubMed:10837493, ECO:0000269PubMed:22226084}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	8 [view]
Protein-DNA	5 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005524	ATP binding
GO:0015232	heme transporter activity
GO:0015439	heme-transporting ATPase activity
GO:0015562	efflux transmembrane transporter activity
GO:0016887	ATPase activity
GO:0020037	heme binding
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0006200	ATP catabolic process
GO:0006779	porphyrin-containing compound biosynthetic process
GO:0006810	transport
GO:0006879	cellular iron ion homeostasis
GO:0007420	brain development
GO:0015886	heme transport
GO:0043588	skin development
GO:0055085	transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005740	mitochondrial envelope
GO:0005741	mitochondrial outer membrane
GO:0005768	endosome
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0031307	integral component of mitochondrial outer membrane
GO:0043190	ATP-binding cassette (ABC) transporter complex
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR011527 ABC transporter type 1, transmembrane domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00664
PF13748
PF00005

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NP58