Biology:FAM71D

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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.[1] 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[2] 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).[3] It codes for at least 10 unique human protein isoforms: the primary isoform (422 aa; also denoted X1),[4][5][6][7] isoform X2 (417 aa),[8] isoform X3 (413 aa),[9] isoform X4 (400 aa),[10] isoform X5 (399 aa),[11] isoform X6 (398 aa),[12] isoform X7 (392 aa),[13][14] isoform X8 (389 aa),[15] isoform X9 (347 aa),[16] isoform X10 (336 aa)[17] 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[18] 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

Gene Neighbors.png[19]

Homology

[20]

Genus and Species Common Name Accession Number Seq. Length Seq. Identity Seq. Similarity
Pan troglodytes Chimpanzee XP_0011335797.2 422 a 97% 98%
Chlorocebus Sabaeus Green Monkey XP_007985246.1 422 a 94% 97%
Macaca mulatta Rhesus macaque XP_001102828.2 422 a 94% 96%
Camelus dromedarius Dromedary XP_5010975019.1 476 a 70% 81%
Vicogna pacos Alpaca XP_006207055.1 573 a 70% 80%
Bos taurus Cattle XP_010807832.1 400 a 68% 79%
Odobenus rosmarus divergens Walrus XP_004397632.1 412 a 70% 81%
Pteropus vampyrus Large flying fox XP_011384479.1 527 a 73% 80%
Felis catus Cat XP_011281587.1 398 a 74% 82%
Mus musculus Mouse NP_083345.1 440 a 59% 74%
Oryctolagus cuniculus European rabbit XP_008270069.1 397 a 75% 84%
Capra hircus Goat XP_005686047.1 397 a 72% 82%
Pantholops hodgsonii Tibetan antelope XP_005961615.1 397 a 71% 82%
Ornicus orca Killer whale XP_004262188.1 391 a 72% 81%
Tursiops trucatus Bottlenose dolphin XP_004322689.1 391 a 72% 81%
Phseter catodon Sperm whale XP_007119740.1 397 a 72% 82%
Equus caballus Horse XP_005605311.1 386 a 69% 79%
Ailuropoda melanoleuca Giant panda XP_0112304461.1 417 a 71% 81%
Fukomys demarensis Dimaraland mole-rat XP_010643626.1 412 a 74% 83%

Protein

The primary protein encoded by FAM71D in humans is 422 amino acids long with a molecular weight of 47076 Da.[21] The protein is part of a functionally uncharacterized family of proteins (pfam 12480) with a domain of unknown function DUF3699.[22]

Structure

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.[23] 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 signals,[24] and lacks both a signal peptide[25] and transmembrane domains.[26]

Interactions

FAM71D interacts with PGK2,[27] TUBA3C,[27] and HSPB1.[28] FAM71D is also predicted to interact with the following proteins using STRING:[29]

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.[30] GEO microarray data also supports the expression of FAM71D in humans[31]

Expression FAM71D.png[32]

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

  1. ↑ "NCBI Protein". https://www.ncbi.nlm.nih.gov/protein/NP_775797.2. 
  2. ↑ "NCBI BLAST (National Center for Biotechnology Information)". http://blast.ncbi.nlm.nih.gov/Blast.cgi. 
  3. ↑ "NCBI Gene". https://www.ncbi.nlm.nih.gov/gene/161142. 
  4. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534802.1. 
  5. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534803.1. 
  6. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534804.1. 
  7. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534805.1. 
  8. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534806.1. 
  9. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534807.1. 
  10. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534808.1. 
  11. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534809.1. 
  12. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_005267429.1. 
  13. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534810.1. 
  14. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534811.1. 
  15. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534812.1. 
  16. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534813.1. 
  17. ↑ "NCBI Protein (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/protein/XP_011534814.1. 
  18. ↑ "NCBI Nucleotide (National Center for Biotechnology Information)". 4 May 2019. https://www.ncbi.nlm.nih.gov/nuccore/NM_173526.3. 
  19. ↑ "NCBI Gene (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/gene/161142. 
  20. ↑ "NCBI Blast (National Center for Biotechnology Information)". http://blast.ncbi.nlm.nih.gov/Blast.cgi. 
  21. ↑ "PhosphositePlus". http://www.phosphosite.org/proteinAction.do;jsessionid=2AC3D0199733E7D640D74D67FD33EDD3?id=2470734&showAllSites=false. 
  22. ↑ "NCBI Conserved Domains (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/Structure/cdd/wrpsb.cgi. 
  23. ↑ "Biology Workbench". http://seqtool.sdsc.edu/CGI/BW.cgi#!. [yes|permanent dead link|dead link}}]
  24. ↑ "CBS (Center of Biological Sequence Analysis)". http://www.cbs.dtu.dk/cgi-bin/webface2.fcgi?jobid=554E25EA00006811E79A9467&wait=20. 
  25. ↑ "CBS (Center of Biological Sequence Analysis)". http://www.cbs.dtu.dk/cgi-bin/webface2.fcgi?jobid=554E27A6000042E386AAAA77&wait=20. 
  26. ↑ "CBS (Center of Biological Sequence Analysis)". http://www.cbs.dtu.dk/cgi-bin/webface2.fcgi?jobid=554E284400006811C837EAF8&wait=20. 
  27. ↑ 27.0 27.1 "BioGrid3.3". http://thebiogrid.org/127772/table/homo-sapiens/fam71d.html. 
  28. ↑ "Mentha". http://mentha.uniroma2.it/result.php#fam71d. 
  29. ↑ "STRING 10". http://string-db.org/newstring_cgi/show_network_section.pl. 
  30. ↑ "NCBI UniGene (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.412818. 
  31. ↑ "NCBI UniGene (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/geoprofiles?DB=geoprofiles&DbFrom=unigene&IdsFromResult=222090&cmd=Link&LinkName=unigene_geoprofiles&tool=UniGene.clust. 
  32. ↑ "NCBI Gene (National Center for Biotechnology Information)". https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.412818. 

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