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Rabbit Anti-Ras and Rab interactor 2 antibody
The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
Function:
Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP.
Subunit:
Homotetramer; probably composed of anti-parallel linkage of two parallel dimers. Interacts with Ras. Interacts with RAB5B,with a much higher affinity for GTP-bound activated RAB5B. Does not interact with other members of the Rab family.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in skeletal muscle, spleen and peripheral blood.
DISEASE:
Defects in RIN2 are the cause of MACS syndrome (MACS) [MIM:613075]; also called macrocephaly alopecia cutis laxa and scoliosis syndrome. MACS is an autosomal-recessive inherited complex disorder of elastic tissue, characterized by sagging skin and occasionally by life-threatening visceral complications.
Similarity:
Belongs to the RIN (Ras interaction/interference) family.
Contains 1 Ras-associating domain.
Contains 1 SH2 domain.
Contains 1 VPS9 domain.
SWISS:
Q8WYP3
Gene ID:
54453
Database links:
Entrez Gene: 54453 Human
Omim: 610222 Human
SwissProt: Q8WYP3 Human
Unigene: 472270 Human
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