Protein Description

Gene Symbol ABCB6
Entrez ID 10058
Uniprot ID Q9NP58
Description ATP binding cassette subfamily B member 6 (Langereis blood group)
Chromosomal Location chr2: 219,209,768-219,218,990
Ontology GO ID GO Term Definition Evidence

BP

GO:0006779

porphyrin-containing compound biosynthetic process

The chemical reactions and pathways resulting in the formation of any member of a large group of derivatives or analogs of porphyrin. Porphyrin consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group.

IDA

BP

GO:0006810

transport

The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein.

IDA

BP

GO:0006879

cellular iron ion homeostasis

Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell.

IBA|NAS

BP

GO:0007420

brain development

The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).

IMP

BP

GO:0015886

heme transport

The directed movement of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

IDA|IMP

BP

GO:0043588

skin development

The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue.

IMP

BP

GO:0055085

transmembrane transport

The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other

TAS

CC

GO:0000139

Golgi membrane

The lipid bilayer surrounding any of the compartments of the Golgi apparatus.

IEA

CC

GO:0005739

mitochondrion

A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

IDA

CC

GO:0005740

mitochondrial envelope

The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space.

IDA

CC

GO:0005741

mitochondrial outer membrane

The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.

IDA|TAS

CC

GO:0005743

mitochondrial inner membrane

The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.

IBA

CC

GO:0005768

endosome

A vacuole to which materials ingested by endocytosis are delivered.

ISS

CC

GO:0005783

endoplasmic reticulum

The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).

IDA

CC

GO:0005789

endoplasmic reticulum membrane

The lipid bilayer surrounding the endoplasmic reticulum.

IEA

CC

GO:0005794

Golgi apparatus

A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions.

IDA

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

IDA

CC

GO:0010008

endosome membrane

The lipid bilayer surrounding an endosome.

IEA

CC

GO:0031307

integral component of mitochondrial outer membrane

The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

IDA

CC

GO:0043190

ATP-binding cassette (ABC) transporter complex

A complex for the transport of metabolites into and out of the cell, typically comprised of four domains; two membrane-associated domains and two ATP-binding domains at the intracellular face of the membrane, that form a central pore through the plasma membrane. Each of the four core domains may be encoded as a separate polypeptide or the domains can be fused in any one of a number of ways into multidomain polypeptides. In Bacteria and Archaebacteria, ABC transporters also include substrate binding proteins to bind substrate external to the cytoplasm and deliver it to the transporter.

NAS

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

MF

GO:0005524

ATP binding

Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

IDA

MF

GO:0015232

heme transporter activity

Enables the directed movement of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, into, out of or within a cell, or between cells.

TAS

MF

GO:0015439

heme-transporting ATPase activity

Catalysis of the reaction: ATP + H2O + heme(in) = ADP + phosphate + heme(out).

IMP

MF

GO:0015562

efflux transmembrane transporter activity

Enables the transfer of a specific substance or related group of substances from the inside of the cell to the outside of the cell across a membrane.

IDA

MF

GO:0020037

heme binding

Interacting selectively and non-covalently with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring.

IDA

Domain ID Description

IPR003439

ABC transporter-like

IPR003593

AAA+ ATPase domain

IPR011527

ABC transporter type 1, transmembrane domain

IPR017871

ABC transporter, conserved site

IPR027417

P-loop containing nucleoside triphosphate hydrolase

IPR032410

Mitochondrial ABC-transporter, N-terminal five TM domain

Pathway ID Pathway Term Pathway Source

hsa02010

ABC transporters

KEGG

UMLS CUI UMLS Term

C0009363

Congenital Ocular Coloboma (Disorder)

C0009404

Colorectal Neoplasms

Tissue Cell Type

epididymis

glandular cells

gallbladder

glandular cells

testis

cells in seminiferous ducts

testis

Leydig cells

Database Name

DisGeNET

Pubmed ID Author Year Title

21411543

Savaris et al.

2011

Progesterone Resistance in PCOS Endometrium: A Microarray Analysis in Clomiphene Citrate-Treated and Artificial Menstrual Cycles

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

TOMM40

10452

O96008

0.49

PIK3R3

8503

Q92569

0.63

BMI1

648

P35226

0.63

FLOT2

2319

Q14254

0.63

GNAI2

2771

P04899

0.63

HLA-DPA1

3113

P20036

0.63

RNF2

6045

Q99496

0.63

TNF

7124

P01375

0.63

TSG101

7251

Q99816

0.63

ERGIC3

51614

Q9Y282

0.63

RNF126

55658

Q9BV68

0.63

CEACAM21

90273

Q3KPI0

0.63

TOLLIP

54472

Q9H0E2

0.72