SERF1A (Small EDRK-rich factor 1A) | Center for Academic Research and Training in Anthropogeny (CARTA)

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True Likely Speculative

What is MOCA?
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Human Uniqueness Compared to "Great Apes":

Likely Difference

MOCA Domain:

Genetics

MOCA Topic Authors:

Majesta O'Bleness

James Sikela

Small EDRK-rich factor 1A (SERF1A) is involved in protein aggregation. SERF1A copies are found within a 500kb 15q13 inverted duplication region that is highly prone to rearrangements and deletions. Although its exact function is unknown, it has been hypothesized to have an important role in the formation of proteotoxicity diseases such as Alzheimer’s, Parkinson’s, and Huntington’s. Humans have 1-3 more copies of SERF1A than any other primate, although the significance of these copies is unknown.

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

Probable Appearance:

2,000 thousand years ago

Definite Appearance:

6,000 thousand years ago

Topic	Certainty
Alzheimer's Disease Pathology (Neurofibrillary Tangles)	Likely

Gene Symbol	Type of Human-Specific Changes
SERF1A	Copy Number Changes

References

Diversity of human copy number variation and multicopy genes., Sudmant, Peter H., Kitzman Jacob O., Antonacci Francesca, Alkan Can, Malig Maika, Tsalenko Anya, Sampas Nick, Bruhn Laurakay, Shendure Jay, and Eichler Evan E. , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
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Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity., van Ham, Tjakko J., Holmberg Mats A., van der Goot Annemieke T., Teuling Eva, Garcia-Arencibia Moises, Kim Hyun-eui, Du Deguo, Thijssen Karen L., Wiersma Marit, Burggraaff Rogier, et al. , Cell, 08/2010, Volume 142, Issue 4, p.601-12, (2010)
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