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SPATA31H1

SPATA31H1 is a biology topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand SPATA31H1 rather than just read about it. In short: Spermatogenesis-associated protein 31H1 is a protein which in humans is encoded by the gene SPATA31H1 (previously C2orf16) Not much has been reported about the function of the this protein, though it is found in the extracellular exosome and nucleus. 68 orthologs are known for this gene, including in mice and sheep, but no paralogs have been found. Gene The C2orf16 isoform 2 is a 6.2 kb, 1 exon gene at locus 2p23.3…

SPATA31H1 — main illustration
SPATA31H1 — illustration

Key takeaways

  • SPATA31H1 belongs to biology; place it in that map before memorising details.
  • Learn the definition first, then one example that makes the definition concrete.
  • Connect SPATA31H1 to a quantity you can measure, compute or draw — that is where exam questions come from.
  • Reproduce the core statement of SPATA31H1 from memory before moving on to harder problems.

Reference excerpt

Spermatogenesis-associated protein 31H1 is a protein which in humans is encoded by the gene SPATA31H1 (previously C2orf16) Not much has been reported about the function of the this protein, though it is found in the extracellular exosome and nucleus. 68 orthologs are known for this gene, including in mice and sheep, but no paralogs have been found.

Gene The C2orf16 isoform 2 is a 6.2 kb, 1 exon gene at locus 2p23.3, and contains P-S-E-R-S-H-H-S repeats on the C-terminal side of the gene from amino acid 1,559 to 1,903. These repeats appear to have arisen from a transposable element. Primates show more P-S-E-R-S-H-H-S repeats than other mammalian orthologs do.

Expression C2orf16 is found to be highly expressed in the testes and a retinoic acid and mitogen-treated human embryonic stem cell line, but is not known to be expressed differently in age or disease phenotypes. C2orf16 is also seen to have high expression in the pre-implantation embryo from the 4-cell embryo stage to the blastocyst stage. C2orf16 is not seen to have rapamycin sensitive expression. C2orf16 is also seen to significantly increase expression in c-MYC knockdown breast cancer cells.

mRNA

Isoforms Two isoforms exist of C2orf16. Isoform 1 is 5,388 amino acids long encoded in 5 exons over 16,401 base pairs. Isoform 2 uses an alternate start site of transcription and is considerably shorter at 1,984 amino acids long encoded in 1 exon over 6,200 base pairs.

Expression Regulation One miRNA is predicted to bind to the 3'UTR of C2orf16, accession number MI0005564.

Protein C2orf16 has a predicted molecular weight of 224kD and a predicted isoelectric point of 10.08, values that are relatively constant between orthologs. The protein includes higher than average composition of serine, histidine, and arginine and a lower than average composition of alanine.

Compositional Features A positive charge cluster is found from amino acid residues 1,274 to 1,302. An arginine rich region is found from amino acids 1,545 to 1,933, a serine rich region is found from amino acids 1,568 to 1,934, and a histidine rich region is found from amino acids 1,630 to 1,853.

A dot matrix analysis reveals a heavily repeated region from approximately residue 1,500 to 1,984, this being the P-S-E-R-S-H-H-S repeat. a small band of dots at approximately amino acid 1,200 denotes a half repeat of the P-S-E-R-S-H-H-S sequence.C2orf16 isoform 2 has no transmembrane domains, and is predicted to be localized to the nucleus after translation due to two nuclear localization sequences predicted at residues 1,233 and 1,281. No nuclear export sequence is conserved amongst orthologs, suggesting C2orf16 is not meant to leave the nucleus after import. No N- or C- terminal modifications were predicted.

Sub-cellular Localization C2orf16 is predicted to be localized to the nucleus after transcription.

Structure

The 3D structure of C2orf16 is predicted to have three major domains. Domain 1 is from amino acids 1 to 662, domain 2 is from amino acids 674 to 1,487, and domain 3 is from amino acids 1,488 to 1,984. Domain 1 and 2 are predicted to be connected via a stretch of 12 amino acids not otherwise organized into a secondary structure allowing flexibility between domains 1 and 2. Domain 2 is predicted to have protein interacting domains for transcription factors. Domain 3 is predicted to follow a "balls on a string" structure and has many sites for possible phosphorylation.

Protein Interactions C2orf16 has been shown to have a physical interaction with proto-oncogene Myc by tandem affinity purification.

Ortholog Phylogeny 68 orthologs are known for C2orf16. The protein seems to have appeared in the mammalian evolutionary history 320 million years ago, around the divergence of mammals from reptiles. This history would explain why orthologs do not exist in amphibians, reptiles, birds, nor other more distantly related species. Any orthologs from species more distant from humans than other mammals are likely not related in function, however, the P-S-E-R-S-H-H-S repeat is present in bony fishes, crustaceans, stramenopiles including potato blight, plantae, and prokaryotes. The transposon repeat may have been reintroduced to mammals by a viral vector.

Repeat Sequence

The P-S-E-R-S-H-H-S repeat sequence is seen to be conserved in orthologs for C2orf16, and is conserved in organisms as distantly related as oomycete slime mold and plants including the chloroplasts of Ashby's Wattle. The S-P-S-E-R portion of the repeat is seen to be the most important for conservation, as seen by alignment with these orthologs and by creation of a Logo. The conservation analysis of the repeat shows the initial S-P-S is highly conserved, possibly for phosphorylation(S) and structure(P), and the R is almost completely conserved, mutating to a Lysine in some orthologs, implying the positive charge is necessary for the purpose of the repeat. The 3D shape of the repeat sequence is unclear as it has been predicted to be either balls-on-a-string or an antiparallel beta-sheet structure.

Function C2orf16 isoform 2 is predicted to have a possible function in mitosis regulation through its nuclear localization, predicted transcription factor binding site, physical association with Myc, and increased expression in c-MYC knockdown breast cancer cells.

Clinical Significance There are four patents on record for C2orf16, one each involving: cancerous PPP2RIA and ARID1A mutations, Alzheimer's predisposition, viral vaccine diversity, and copy number variation relation to common variable immunodeficiency. C2orf16 is also shown to have increased expression in some breast cancer lines, as well as being involved with Myc which is a common oncogene, making C2orf16 a possible oncogene to target in cancer treatments.

References

Illustrations

SPATA31H1 illustration
SPATA31H1 illustration
SPATA31H1: Dot matrix analysis of uncharacterized protein C2orf16 isoform 2. The P-S-E-R-S-H-H-S repeat sequence is visualized via the darker area of the matrix from amino acid 1500–1984, and a half P-S-E-R-S-H-H-S repeat sequence is seen as a band near amino acid 1200.
Dot matrix analysis of uncharacterized protein C2orf16 isoform 2. The P-S-E-R-S-H-H-S repeat sequence is visualized via the darker area of the matrix from amino acid 1500–1984, and a half P-S-E-R-S-H-H-S repeat sequence is seen as a band near amino acid 1200.
SPATA31H1: C2orf16 Isoform 2 predicted 3D structure showing the three major domains of the protein. Domain 3 contains the P-S-E-R-S-H-H-S repeat sequence.
C2orf16 Isoform 2 predicted 3D structure showing the three major domains of the protein. Domain 3 contains the P-S-E-R-S-H-H-S repeat sequence.
SPATA31H1: P-S-E-R-S-H-H-S Repeat Sequence Logo
P-S-E-R-S-H-H-S Repeat Sequence Logo

Worked examples

Example 1 — a first encounter with SPATA31H1

Start with the simplest possible case. Write down what SPATA31H1 claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In biology, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to SPATA31H1 before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about SPATA31H1 ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of SPATA31H1

In research
SPATA31H1 appears in biology research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry
Engineering practice reuses SPATA31H1 in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom
SPATA31H1 is common in secondary-school and first-year university syllabi. It links to neighbouring topics Genes on human chromosome 2, Proteins, so understanding it makes those chapters shorter.
In everyday life
Look for SPATA31H1 outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.
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How to study SPATA31H1 in 20 minutes

  1. Read the reference excerpt below once, without taking notes.
  2. Close the page and write down what SPATA31H1 means in your own words.
  3. Compare your version with the excerpt and mark what you missed.
  4. Work through the three examples above with pen and paper.
  5. Explain SPATA31H1 out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is SPATA31H1 in simple terms?

Spermatogenesis-associated protein 31H1 is a protein which in humans is encoded by the gene SPATA31H1 (previously C2orf16) Not much has been reported about the function of the this protein, though it is found in the extracellular exosome and nucleus. 68 orthologs are known for this gene, including…

Why does SPATA31H1 matter?

Because it connects several biology ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study SPATA31H1?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on SPATA31H1.

Tags

  • Genes on human chromosome 2
  • Proteins

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