SERPINA13 (Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13) | Center for Academic Research and Training in Anthropogeny (CARTA)

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Genetics

MOCA Topic Authors:

Majesta O'Bleness

James Sikela

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.

Timing

Timing of appearance of the difference in the Hominin Lineage as a defined date or a lineage separation event. The point in time associated with lineage separation events may change in the future as the scientific community agrees upon better time estimates. Lineage separation events are defined in 2017 as:

the Last Common Ancestor (LCA) of humans and old world monkeys was 25,000 - 30,000 thousand (25 - 30 million) years ago
the Last Common Ancestor (LCA) of humans and chimpanzees was 6,000 - 8,000 thousand (6 - 8 million) years ago
the emergence of the genus Homo was 2,000 thousand (2 million) years ago
the Last Common Ancestor (LCA) of humans and neanderthals was 500 thousand years ago
the common ancestor of modern humans was 100 - 300 thousand years ago

Definite Appearance:

6,000 thousand years ago

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol	Type of Human-Specific Changes
SERPINA13	Pseudogenization

References

Human-specific nonsense mutations identified by genome sequence comparisons., Hahn, Y., and Lee B. , Hum Genet, 03/2006, Volume 119, Issue 1-2, p.169-78, (2006)
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