SERPINA13 (Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13)

Certainty Style Key
Hover over keys for definitions:
True   Likely   Speculative
Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 

Serpin peptidase inhibitor, clade A, member 13 (SERPINA13) is a human pseudogene in the Serpin family of proteins, which are involved in regulation of many diverse biological pathways such as blood coagulation, inflammation, and tumor suppression. In human, a nucleotide change has resulted in a premature stop codon in the 4th of 5 exons encoded, which has rendered this gene non-functional. Ramifications for the pseudogenization of SERPINA13 are not understood as the function of this gene in other primates is not known, although the mRNA for this gene is still expressed in human liver and thus may have played a role in liver function.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
SERPINA13 (SERPINA13: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene))
Type of Human-Specific Changes:
Pseudogenization
Related MOCA Topics
Timing

Timing of Appearance of the Difference in the Hominin Lineage.

For this entry assume that

  • the common ancestor of humans and old world monkeys was 25000 thousand (25 million) years ago
  • the common ancestor of humans and chimpanzees was 6000 thousand (6 million) years ago
  • the emergence of the genus Homo was 2000 thousand (2 million) years ago
  • the common ancestor of modern humans was 100 thousand years ago

 

Definite Appearance: 
6000 Thousand Years
References: 

Hahn Y and Lee B. (2006) Human-specific nonsense mutations identified by genome sequence comparisons. Hum Genet. 119(1-2):169-78. PMID: 16395595