DENN domain-containing protein 1B is a protein encoded by DENND1B human gene, located on

chromosome 1 Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which a ...

Structure

The protein has tripartite DENN domain at

N-terminal The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the amin ...

Functions

The protein is a

guanine nucleotide exchange factor Guanine nucleotide exchange factors (GEFs) are proteins or protein domains that activate monomeric GTPases by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP). A variety of unrelated structu ...

for RAB35.

Clinical significance

The gene is hypothesized by Danish scientists Klaus Bønnelykke and Hans Bisgaard to be related to

asthma Asthma is a common long-term inflammatory disease of the airways of the lungs. It is characterized by variable and recurring symptoms, reversible airflow obstruction, and easily triggered bronchospasms. Symptoms include episodes of wh ...

. The gene may affect susceptibility to chronic cavitary pulmonary aspergillosis. Variants of this gene are also associated with obesity in both humans and dogs.

References

Genes on human chromosome 1 {{gene-1-stub