Golgi-associated RAB2 interactor protein 2 is a protein that in humans is encoded by the GARIN2 gene (previously FAM71D). The GARIN2 protein seems to be involved in sperm movement. GARIN2 has 7 known paralogs: GARIN1A, GARIN1B, GARIN3, GARIN4, GARIN5A, GARIN5B, and GARIN6.
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 that is 290 bases long and a 3' untranslated region 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
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. The protein is part of a functionally uncharacterized family of proteins (pfam 12480) with a domain of unknown function DUF3699.
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. 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, and lacks both a signal peptide and transmembrane domains.
Interactions FAM71D interacts with PGK2, TUBA3C, and HSPB1. FAM71D is also predicted to interact with the following proteins using STRING:
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 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