TAG for ABCB6

Gene content

Symbol

ABCB6 ( by HUGO)

Name

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6

Category

Other

Alias

ATP-Binding Cassette
Sub-Family B (MDR/TAP)
Member 6
MTABC3
ATP-Binding Cassette Half-Transporter
Mitochondrial ABC Transporter 3
Mt-ABC Transporter 3
Ubiquitously-Expressed Mammalian ABC Half Transporter
PRP
P-Glycoprotein-Related Protein
DUH3
LAN
MCOPCB7
ABC
ABC14
ATP-Binding Cassette Sub-Family B Member 6
Mitochondrial
umat
UMAT
EC 3.6.3

Cytogenetic band

NCBI: 2q36 Ensembl: 2q35

Protein information

ABCB6_HUMAN

Size: 842 amino acids

Mass: 93886 Da

Subunit: Homodimer Developmental stage: Highly expressed in fetal liver Miscellaneous: Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis Sequence caution: Sequence=AAG33617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAG33618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; 4 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for ABCB6: 3NH6 (3D) [IMAGE] 3NH9 (3D) [IMAGE] 3NHA (3D) [IMAGE] 3NHB (3D) [IMAGE]

Tissue specificity: Widely expressed. High expression is detected in the retinal epithelium [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Array including ABCB6: Drug Transporters in human mouse rat Primer Products: [IMAGE] OriGene qPCR primer pairs and template standard

Function:

UniProtKB/Swiss-Prot Summary: ABCB6_HUMAN, Q9NP58 Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis

Similarity:

Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily

Contains 1 ABC transmembrane type-1 domain

Contains 1 ABC transporter domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001140	ABC_transptr_TM_dom	ABC transporter, transmembrane region	Domain
	IPR003439	ABC_transporter-like	ABC transporter related	Domain
	IPR003593	AAA+_ATPase	AAA ATPase	Domain
	IPR011527	ABC1_TM_dom	ABC transporter, transmembrane region, type 1	Domain

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cellular iron ion homeostasis	NAS	GOA	11977179
	heme transport	IMP	GOA	17006453
	heme transport	IDA	GOA	17661442
	porphyrin-containing compound biosynthetic process	IDA	GOA	17006453
	transport	IDA	GOA	10837493
Cellular Component	ATP-binding cassette (ABC) transporter complex	NAS	GOA	11955620
	extracellular vesicular exosome	IDA	GOA	19056867
	Golgi apparatus	IDA	GOA	18279659
	integral component of mitochondrial outer membrane	IDA	GOA	17661442
	mitochondrial envelope	IDA	GOA	10837493
	mitochondrial outer membrane	IDA	GOA	17006453
	mitochondrion	IDA	GOA	10837493
	NOT mitochondrion	IDA	GOA	18279659
	plasma membrane	IDA	GOA	17661442
Molecular Function	ATP binding	IDA	GOA	10837493
	efflux transmembrane transporter activity	IDA	GOA	17661442
	heme binding	IDA	GOA	17006453
	heme-transporting ATPase activity	IMP	GOA	17006453

Disorder & Mutation
Source	Disease
SWISS-PROT	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). Note=The disease is caused by mutations affecting the gene represented in this entry
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry

ABCB6 cross reference