FAM71E1

FAM71E1, also known as Family With Sequence Similarity 71 Member E1, is a protein that in humans is encoded by the FAM71E1 gene. It is thought to be ubiquitously expressed at low levels throughout the body, and it is conserved in vertebrates, particularly mammals and some reptiles. The protein is localized to the Cell nucleus, nucleus and can be exported to the cytoplasm.

Gene

Location

The gene is located on the minus strand at 19q13.33 and spans from 50,466,643 to 50,476,753. It is 10,070 bp long.

Gene Neighborhood

In humans, the gene is flanked by the following genes:

* SPIB: putative oncogene that is active in hematopoietic cells
* MYBPC2: encodes a structural protein and is actively expressed in Striated muscle tissue, striated muscle cells
* EMC10: encodes a protein of unknown function
* JOSD2: encodes a protein involved in Deubiquitinating enzyme, de-ubiquitination

Promoter

The promoter of FAM71E1 is located on the minus strand from 50,476,094 to 50,477,946 . It is 1,853 bp long.

Expression

The gene seems to be ubiquitously expressed at low levels throughout the body but has prominent expression in the adult human Testicle, testis, followed by lower expression levels in the sperm, oocyte, and brain. Age does not have an effect on its expression in the skeletal muscle of males or females. Its expression is elevated prior to the Cellular differentiation, differentiation of embryonic stem cells into Pancreatic islets, pancreatic islet-like cells.

Transcript

Isoforms

The FAM71E1 gene produces two Protein isoform, isoforms from alternative splicing. Isoform 1 is 1281 bp long, and isoform 2 is slightly shorter at 1233 bp long. Both transcript variants have 5 exons, 4 of which are coding exons. The third intron for the isoform 2 transcript is longer than the one found in isoform 1.

Regulation

The FAM71E1 transcript is regulated by MicroRNA, micro-RNAs, such as miR-149, MIR7-1, miR-7, miR-125b, miR-125a-5p, Mir-192/215 microRNA precursor, miR192-5p, and Mir-192/215 microRNA precursor, miR-215.

Protein

Properties

The protein from isoform 1 is 247 amino acids long with a molecular weight of 27.6 kDa. It has a charge of 5.0 and an isoelectric point of 8.9. It has a domain of unknown function (DUF3699), which is conserved in eukaryotes and has no known pairwise interactions with other domains. The structure of the protein has 3 Alpha helix, alpha helices and 5 beta strands.

Localization

The protein is predicted to localize to the Cell nucleus, nucleus and thought to be mainly associated with the Fibrillar center, nucleoli fibrillar center. It can also be exported to the cytoplasm.

Homologs

Paralogs

The FAM71E1 gene is fast evolving. It has the following 8 paralogs: FAM71A, FAM71B, FAM71C, FAM71D, FAM71E2, FAM71F1, FAM71F2, and AC020922.1. FAM71D, FAM71E2 and AC0209221.1 are found in Amniotes and their last common ancestor with FAM71E1 was likely in the ancestor of the Sauria taxon, which includes reptiles and birds. The remaining paralogs are found in mammals and are expressed in organisms from the evolutionary descendants of the lobe-finned fish (Sarcopterygii). Their last common ancestor with FAM71E1 was Coelacanth (''Latimeria chalumnae'').

Orthologs

Orthologs of FAM71E1 can be found only in vertebrates, primarily in Placentalia, placental mammals in the Boreoeutheria group and occasionally in a few reptilian species. Reptiles and marsupials are included in the distant homologs, while orthologs in placental animals such as rodents and primates are more closely related to FAM71E1. The gene history contains 27 Gene duplication, duplication events and 1 splitting event.

Clinical Significance

Mutations

There are no disease-causing mutations associated with this gene, and it is tolerant towards Loss of function, loss-of-function variants.

Disease Associations

FAM71E1 has reduced expression in Type 2 diabetes patients and is likely not involved in the disease's pathophysiology. Its expression is also altered in Parkinson's disease and several cancers, such as non-Triple-negative breast cancer, triple negative ductal carcinoma in situ, breast cancer, Pancreatic cancer, pancreatic adenocarcinoma, and Colorectal cancer, colorectal carcinoma. It is a gene of interest in predicting susceptibility to pneumonia.

References

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