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SERF1A (Small EDRK-rich factor 1A)

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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.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
SERF1A (SERF1A: small EDRK-rich factor 1A (telomeric))
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
Related Topics:
TitleCertainty
Alzheimer's Pathology (Neurofibrillary Tangles)Likely
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

 

Probable Appearance: 
2000 Thousand Years
Definite Appearance: 
6000 Thousand Years
References: 

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID:21030649



van Ham TJ, Holmberg MA, van der Goot AT, Teuling E, Garcia-Arencibia M, Kim HE, Du D, Thijssen KL, Wiersma M, Burggraaff R, van Bergeijk P, van Rheenen J, Jerre van Veluw G, Hofstra RM, Rubinsztein DC, Nollen EA. Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity. Cell. 2010 Aug 20;142(4):601-12. PMID: 20723760

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