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
File: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]
File: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 suffering from unruptured intracranial aneurysms.
References
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