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GARIN2
Identifiers
Aliases	GARIN2, C14orf54, family with sequence similarity 71 member D, golgi associated RAB2 interactor family member 2, GARI-L1, FAM71D, GARI-L2
External IDs	MGI: 1918147; HomoloGene: 49887; GeneCards: GARIN2; OMA:GARIN2 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) Band 14q23.3 Start 67,189,393 bp End 67,228,550 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 C3 Start 78,691,535 bp End 78,734,516 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis testicle sperm gonad buccal mucosa cell apex of heart right lobe of liver Achilles tendon right lobe of thyroid gland Top expressed in spermatid seminiferous tubule spermatocyte zygote embryo embryo secondary oocyte neural layer of retina tail of embryo right kidney More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 161142 70897 Ensembl ENSG00000172717 ENSMUSG00000056987 UniProt Q8N9W8 D3YV92 RefSeq (mRNA) NM_173526 NM_001395907 NM_027597 NM_029069 RefSeq (protein) NP_775797 NP_001390878 NP_001390880 NP_001390886 NP_001390887 NP_001390888 NP_001390889 NP_001390890 NP_001390891 NP_001390892 NP_081873 NP_083345 Location (UCSC) Chr 14: 67.19 – 67.23 Mb Chr 12: 78.69 – 78.73 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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 Reptiles, however, it is closer in homology to primates 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 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

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

1. ^ GRCh38: Ensembl release 89: ENSG00000172717 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000056987 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "NCBI Protein".
6. "NCBI BLAST (National Center for Biotechnology Information)".
7. "NCBI Gene".
8. "NCBI Protein (National Center for Biotechnology Information)".
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22. "NCBI Nucleotide (National Center for Biotechnology Information)". 4 May 2019.
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24. "NCBI Blast (National Center for Biotechnology Information)".
25. "PhosphositePlus".
26. "NCBI Conserved Domains (National Center for Biotechnology Information)".
27. "Biology Workbench".
28. "CBS (Center of Biological Sequence Analysis)".
29. "CBS (Center of Biological Sequence Analysis)".
30. "CBS (Center of Biological Sequence Analysis)".
31. ^ "BioGrid3.3".
32. "Mentha".
33. "STRING 10".
34. "NCBI UniGene (National Center for Biotechnology Information)".
35. "NCBI UniGene (National Center for Biotechnology Information)".
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• Genes on human chromosome 14