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161142
70897
ENSG00000172717
ENSMUSG00000056987
Q8N9W8
D3YV92
NM_173526NM_001395907
NM_027597NM_029069
NP_775797
NP_001390889NP_001390890NP_001390891NP_001390892NP_081873NP_083345
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.[5] Orthologs of FAM71D reach as far back in evolution to Reptiles, however, it is closer in homology to primates than any other orthologs. FAM71D has 6 paralogs: FAM71A, FAM71B, FAM71C, FAM71E1, FAM71F1, and FAM71F2[6] which encode a protein of unknown function.
In humans, FAM71D is located at 14q23.3 and stretches between positions 67189393 and 67228550 (span 39157 bp).[7] It codes for at least 10 unique human protein isoforms: the primary isoform (422 aa; also denoted X1),[8][9][10][11] isoform X2 (417 aa),[12] isoform X3 (413 aa),[13] isoform X4 (400 aa),[14] isoform X5 (399 aa),[15] isoform X6 (398 aa),[16] isoform X7 (392 aa),[17][18] isoform X8 (389 aa),[19] isoform X9 (347 aa),[20] isoform X10 (336 aa)[21] In humans, FAM71D codes for an mRNA strand that is 1790 base pairs long. The human mRNA is composed of a 5' untranslated region that is 290 bases long and a 3' untranslated region that is 231 bases long[22] The gene has the following neighbours on the same chromosome:
[23]
[24]
The primary protein encoded by FAM71D in humans is 422 amino acids long with a molecular weight of 47076 Da.[25] The protein is part of a functionally uncharacterized family of proteins (pfam 12480) with a domain of unknown function DUF3699.[26]
Several tools are available to predict the secondary structure of a protein. One tool that combines the results of few of them is PELE on SDSC Biology WorkBench.[27] According to this tool, the protein's secondary structure is mostly alpha helices, beta stands and coiled-coiled domains.
Like any other protein, this protein undergoes post-translational modifications. FAM71D is predicted to contain 2 nuclear export signals,[28] and lacks both a signal peptide[29] and transmembrane domains.[30]
FAM71D interacts with PGK2,[31] TUBA3C,[31] and HSPB1.[32] FAM71D is also predicted to interact with the following proteins using STRING:[33]
FAM71D is primarily expressed in the testis of humans only expressed during the adult developmental stage.[34] GEO microarray data also supports the expression of FAM71D in humans[35]
[36]
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.
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