COL4A3BP gene

collagen type IV alpha 3 binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.

From NCBI Gene:

  • Mental retardation, autosomal dominant 34

From UniProt:

Mental retardation, autosomal dominant 34 (MRD34): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:616351]

Cytogenetic Location: 5q13.3, which is the long (q) arm of chromosome 5 at position 13.3

Molecular Location: base pairs 75,368,486 to 75,511,981 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q13.3, which is the long (q) arm of chromosome 5 at position 13.3
  • CERT
  • CERTL
  • GPBP
  • MRD34
  • STARD11