JAKMIP3 is an 844 amino acid protein that belongs to the JAKMIP family. Localizing to the Golgi apparatus, JAKMIP3 is expressed in the central nervous system, as well as endocrine tissue, heart, testis and prostate. Existing as two alternatively spliced isoforms, the gene encoding JAKMIP3 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
Subcellular Location:
Golgi apparatus
Tissue Specificity:
Specifically expressed in the CNS and endocrine tissues. Also detected in other tissues including heart,testis and prostate.
Similarity:
Belongs to the JAKMIP family.
SWISS:
Q5VZ66
Gene ID:
282973
Database links:
Entrez Gene: 282973 Human
Entrez Gene: 74004 Mouse
Entrez Gene: 365380 Rat
Omim: 611198 Human
SwissProt: Q5VZ66 Human
SwissProt: Q5DTN8 Mouse
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