FAM71D, also known as chromosome 14 open reading frame 54 (C14orf54), is a protein that in humans is encoded by the FAM71D gene on Chromosome 14. Orthologs of FAM71D reach as far back in evolution to

Reptile Reptiles, as most commonly defined are the animals in the class Reptilia ( ), a paraphyletic grouping comprising all sauropsids except birds. Living reptiles comprise turtles, crocodilians, squamates (lizards and snakes) and rhynchocephalians ( ...

s, however, it is closer in homology to

primates Primates are a diverse order of mammals. They are divided into the strepsirrhines, which include the lemurs, galagos, and lorisids, and the haplorhines, which include the tarsiers and the simians (monkeys and apes, the latter including huma ...

than any other orthologs. FAM71D has 6 paralogs: FAM71A, FAM71B, FAM71C, FAM71E1, FAM71F1, and FAM71F2 which encode a protein of unknown function.

Gene

In humans, FAM71D is located at 14q23.3 and stretches between positions 67189393 and 67228550 (span 39157 bp). It codes for at least 10 unique human protein isoforms: the primary isoform (422 aa; also denoted X1), isoform X2 (417 aa), isoform X3 (413 aa), isoform X4 (400 aa), isoform X5 (399 aa), isoform X6 (398 aa), isoform X7 (392 aa), isoform X8 (389 aa), isoform X9 (347 aa), isoform X10 (336 aa) In humans, FAM71D codes for an mRNA strand that is 1790 base pairs long. The human mRNA is composed of a

5' untranslated region The 5′ untranslated region (also known as 5′ UTR, leader sequence, transcript leader, or leader RNA) is the region of a messenger RNA (mRNA) that is directly Upstream and downstream (DNA), upstream from the initiation codon. This region is im ...

that is 290 bases long and a

3' untranslated region In molecular genetics, the three prime untranslated region (3′-UTR) is the section of messenger RNA (mRNA) that immediately follows the translation termination codon. The 3′-UTR often contains regulatory regions that post-transcriptionally ...

that is 231 bases long The gene has the following neighbours on the same chromosome:
: MPP5: MAGUK p55 subfamily member 5 plays a role in tumour suppression and receptor clustering : GPHN: Gephyrin plays a role in anchoring inhibitory neurotransmitter receptors to postsynaptic cytoskeleton :AT6V1D: V-type proton ATPase subunit D, an enzyme that mediates acidifcation of eukaryotic intracellular organelles :SF3B44P1: Splicing Factor 3b, Subunit 4 Pseudogene 1 :LOC101927920: Probable Ribosome Biogenesis Protein RLP24-Like :LOC105370538: Uncharacterized protein :LOC105370541: Uncharacterized protein

Homology

Protein

The primary protein encoded by FAM71D in humans is 422 amino acids long with a molecular weight of 47076 Da. The protein is part of a functionally uncharacterized family of proteins (pfam 12480) with a

domain of unknown function A domain of unknown function (DUF) is a protein domain that has no characterised function. These families have been collected together in the Pfam database using the prefix DUF followed by a number, with examples being DUF2992 and DUF1220. As of 201 ...

DUF3699.

Structure

Several tools are available to predict the

secondary structure Protein secondary structure is the three dimensional conformational isomerism, form of ''local segments'' of proteins. The two most common Protein structure#Secondary structure, secondary structural elements are alpha helix, alpha helices and beta ...

of a protein. One tool that combines the results of few of them is PELE on SDSC Biology WorkBench. According to this tool, the protein's secondary structure is mostly alpha helices, beta stands and coiled-coiled domains.

Post Translational Modifications

Like any other protein, this protein undergoes post-translational modifications. FAM71D is predicted to contain 2

nuclear export signal A nuclear export signal (NES) is a short target peptide containing 4 hydrophobic residues in a protein that targets it for export from the cell nucleus to the cytoplasm through the nuclear pore complex using nuclear transport. It has the oppo ...

s, and lacks both a

signal peptide A signal peptide (sometimes referred to as signal sequence, targeting signal, localization signal, localization sequence, transit peptide, leader sequence or leader peptide) is a short peptide (usually 16-30 amino acids long) present at the N-ter ...

and transmembrane domains.

Interactions

FAM71D interacts with PGK2, TUBA3C, and HSPB1. FAM71D is also predicted to interact with the following proteins using

STRING String or strings may refer to: *String (structure), a long flexible structure made from threads twisted together, which is used to tie, bind, or hang other objects Arts, entertainment, and media Films * ''Strings'' (1991 film), a Canadian anim ...

: :THUMPD3: THUMP domain containing 3 :CCDC170: Coiled-coil domain containing 170 :KLH10: Kelch-like 10 : TMEM48: Transmembrane protein 48 :SHCBP1L: SHC SH2-domain binding protein : ASNA1: arsA arsenite transporter :PPP1R16A: Protein Phosphate 1, regulatory subunit 16A : IZUMO1: izumo sperm-egg fusion 1 : SF3B2: Splicing factor 3b, submit 2 :TUBB4B: Tubulin, beta 4B class IVb

Expression

FAM71D is primarily expressed in the testis of humans only expressed during the adult developmental stage. GEO

microarray A microarray is a multiplex lab-on-a-chip. Its purpose is to simultaneously detect the expression of thousands of genes from a sample (e.g. from a tissue). It is a two-dimensional array on a solid substrate—usually a glass slide or silicon t ...

data also supports the expression of FAM71D in humans

Clinical Relevance

No studies have directly associated FAM71D protein with certain diseases. However, using NCBI GEO Profiles, FAM71D was found to be over-expressed in patients with unruptured intracranial aneurysms.

References

{{reflist ' Genes on human chromosome 14