KNDC1 is a 1,749 amino acid protein that contains two KIND domains and an N-terminal Ras-GEF domain. Expressed in the cerebral cortex, KNDC1 is a likely guanine nucleotide exchange factor (GEF). Existing as six alternatively spliced isoforms, the gene encoding KNDC1 maps to human chromosome 10q26.3 and mouse chromosome 7 F4. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
Function:
Probable guanine nucleotide exchange factor (GEF).
Tissue Specificity:
Expressed specifically in the cerebral cortex.
Similarity:
Contains 2 KIND domains.
Contains 1 N-terminal Ras-GEF domain.
Contains 1 Ras-GEF domain.
SWISS:
Q76NI1
Gene ID:
85442
Database links:
Entrez Gene: 85442 Human
SwissProt: Q76NI1 Human
Unigene: 530685 Human
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