HSDL1 is a 330 amino acid protein that belongs to the short-chain dehydrogenases/reductases (SDR) family and 17-beta-HSD 3 subfamily. Localizing to the mitochondrion, HSDL1 is highly expressed in testis and ovary, with lower levels of expression found in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle, small intestine, colon, spleen, prostate and pancreas. HSDL1 interacts with DUSP24 and is encoded by a gene that maps to human chromosome 16q23.3 and mouse chromosome 8 E1. Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA, and is associated with a variety of genetic disorders. The rare disorder Rubinstein-Taybi syndrome is associated with chromosome 16 through the CREBBP gene, which encodes a critical CREB binding protein. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene.
Function:
Highly expressed in testis and ovary. Also detected in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle, small intestine, colon, spleen, prostate and pancreas.
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Highly expressed in testis and ovary. Also detected in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle, small intestine, colon, spleen, prostate and pancreas.
Similarity:
Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
SWISS:
Q3SXM5
Gene ID:
83693
Database links:
Entrez Gene: 83693 Human
Entrez Gene: 72552 Mouse
Entrez Gene: 361418 Rat
SwissProt: Q3SXM5 Human
SwissProt: Q8BTX9 Mouse
SwissProt: Q4V8B7 Rat
Unigene: 555992 Human
Unigene: 36756 Mouse
Unigene: 199069 Rat
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