Chromosome 9 open reading frame 43: Difference between revisions

C9orf43
Identifiers
Aliases	C9orf43, chromosome 9 open reading frame 43
External IDs	MGI: 3045314; HomoloGene: 51897; GeneCards: C9orf43; OMA:C9orf43 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	113,429,690 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	62,466,230 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; gonad; ; testicle; ; sperm; ; right adrenal gland; ; right adrenal cortex; ; islet of Langerhans; ; left adrenal gland; ; olfactory zone of nasal mucosa;
	Top expressed in
	spermatid; ; seminiferous tubule; ; spermatocyte; ; morula; ; embryo; ; embryo; ; blastocyst; ; zygote; ; ventricular zone; ; genital tubercle;
	More reference expression data
	n/a
Orthologs
	257169
	214106
	ENSG00000157653
	ENSMUSG00000058046
	Q8TAL5
	Q8BHW4
	NM_001278629; NM_001278630; NM_152786
	NM_177607; NM_001356420; NM_001356421; NM_001356422; NM_001377106
	NP_001265558; NP_001265559; NP_689999
	NP_001343349; NP_001343350; NP_001343351; NP_001364035; NP_808275
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 02:31, 6 May 2018

Chromosome 9 open reading frame 43 is a protein that in humans is encoded by the C9orf43 gene. ^[1] C9orf43 contains DUF 4647 and polyCAG repeats although the function is largely unkown.^[2]

Gene name, protein name, structure,

expression pattern, function Picture

Gene

- Common aliases (if not in ToII)

Location

C9orf43 is located on the long arm of chromosome 9 at 9q32, the genomic sequence starting at 113,410,054 bp and ending at 113,429,684 bp.^[7] The gene is expressed on the positive strand.^[8] C9orf43 is 463 amino acids long and contains 15 introns and 16 exons and DUF4647, a domain of unknown function, from amino acid 1-454.^[9]

Gene level regulation

Transcripts

- Known isoforms (by name, size, exon usage, abundance)

C9orf43 has 3 splice variants, Isoform X1 with accession number NP_001265558.1 is the longest isoform with 461 amino acids and contains 16 exons.^[10]^[11] The other two isoforms, Isoform X2 with accession number NP_001265559.1 and Isoform X3 with accession number XP_011516781.1 are 461 and amino acids long, respectively.

Promoter

The promoter region of C9orf43 is predicted to be 1199 base pairs by Genomatix ElDorado and contains a CpG island and part of the 5' UTR.^[12]

- Transcription factor binding sites

Expression pattern

C9orf43 is expressed in many different tissues in humans according to NCBI's EST Profile.^[13] The highest expression is seen in the testes with lower relative expression in the umbilical cord, cervix, and brain. C9orf43 is expressed in disease states including cervical tumors, normal tumors, and soft tissue/muscle tumors. Expression is seen during the fetal and adult developmental stages.

- high, moderate, low mRNA abundance

- NCBI GEO profile across all tissues

Expression is seen in a variety of tissues including the fetal liver, lung, liver, brain, heart, spinal cord, pancreas, thymus, salivary gland and placenta.^[14]

- in situ hybridization data

File:Protein abundance.pdf

PaxDb showed C9orf43 protein abundance to be normal with normal expression in Homo sapiens.

- protein localization and abundance

C9orf43 is expressed at high levels in sperm cells with decreased expression seen in teratozoospermia.^[15]Greater relative expression of C9orf43 is also seen in hyperplastic enlarged lobular unit of the mammary gland as compared to normal terminal duct lobular unit.^[16]C9orf43 is seen to play a role in megakaryocyte differentiation in peripheral blood CD34 plus cells.^[17]

Transcript level regulation

- splice enhancers

- mRNA localization

- predicted stem loops

- translation initiation

- miRNA targeting The 3’ untranslated region of C9orf43 contains 3 predicted stem loop structures with 4 miRNA predicted to bind.^[18]^[19]

Protein

- Known isoforms (by name, size, domain inclusion, abundance)

C9orf43 has a predicted molecular weight of 52.2kD and a predicted isoelectric point of 8.037.^[20]^[21]

- Domains and motifs by homology

- Secondary structure

C9orf43 secondary structure is predicted to be 36% alpha helical and 3% beta sheet with 73% disordered.^[22]

- 3° and 4° structure (disulfide bonds [Disulfind], topology within membrane)

Composition

Composition analysis of C9orf43 showed amino acid frequencies within 1.5% of normal human proteins except for Glutamine.^[23] Glutamine is present in higher frequencies than is seen in other human proteins.

Homology / Evolution

C9orf43 has no known paralogs but has orthologs ranging from mammalian orders to reptile Crocodylus porosus.^[24] A table of orthologous proteins constructed using BLAST contains a small subset of orthologs to exhibit the diversity of C9orf43.^[25]


Genus and Species	Common Name	Taxonomy	Accession number	Date of Divergence	Percent Identity
Aotus Nancymaae	Ma's night monkey	Primates	XP_009186498.1	42.6	79%
Pteropus alecto	Black flying fox	Chordata	XP_015448812.1	94	62%
Bos taurus	Cow	Cerartiodactyla	XP_01532817.9	94	57%
Erinaceus europaeus	European Hedgehog	Soricomorpha	XP_007526825.1	94	54%
Phascolarctos cinereus	Koala	Diprotodontia	XP_020821154.1	159	44%
Ursus maritimus	Polar Bear	Carnivora	XP_008706212.1	94	43%
Monodelphis domestica	Gray short-tailed opossum	Didelphimorphia	XP_007475046.1	160	41%
Sarcophilus harisii	Tasmanian Devil	Dasyuromorphia	XP_003757404.3	160	32%
Crocodylus porosis	Saltwater Crocodyle	Reptilia	XP_019396109.1	312	30%

Protein level regulation

C9orf43 has a nuclear localization signal, pat4, that is conserved across orthologs, predicting the protein is intracellular.

- signal peptide? cleavage site?

- lipid anchor attachment

SUMOylation, O-linked glycosylation, N-acetylgluocose addition, and phosphorylation were post translational modifications predicted using EXPASY. ^[26]

Function / Biochemistry

Interacting Proteins

- TFs that might bind to regulatory sequence

Transcription factors predicted to bind to the upstream promotor include OAZFP the olfactory associated zinc finger protein, NGRE, the "Negative" glucocorticoid response elements, CSTF, the Chorion-specific transcription factors with a GCM DNA binding domain, and EAF1 the Homolog to deformed epidermal autoregulatory factor-1 from D. melanogaster.^[27]

- Proteins found in Y2H screens (developmental; functional)

OR7D2 and OR4X2 are olfactory receptors in Homo sapiens. CATSPER3 is a sperm associated voltage gated calcium channel which plays a role in fertilization in sperm hyperactivation, acrosome reaction and chemotaxis toward the oocyte. CATSPER3 is associated with fertilization and is likely to interact with C9orf43 which has been shown to have high expression in sperm. ^[28]

AAT6 (ACTA2) and ACTBL2 (ACT) both interact, making C9orf43 more likely to interact with both proteinshttp://www.ebi.ac.uk/Tools/webservices/psicquic/view/results.xhtml?conversationContext=1 https://www.ebi.ac.uk/intact/interaction/EBI-10701453

- Partners that make sense

Two hybrid screening, affinity chromatography technology and pulldown methods were used to determine interactions AAA is an alias for APP and encodes a cell surface receptor and transmembrane precursor protein that is cleaved and can bind to acetyltransferase complex APBB1/T1P60 to promote transcription as well as forming amyloid plaques found in the brain in Alzheimer disease http://www.genecards.org/cgi-bin/carddisp.pl?gene=APP

HHL is an alias for RABGAP1L which is a GTP-hydrolysis activating protein (GAP) involved in conversion of RAB22A-GTP to inactive RAB22A-GDP which plays a role in endocytosis and intracellular protein transport http://www.genecards.org/cgi-bin/carddisp.pl?gene=RABGAP1L&keywords=tbc1d18

AAT6 is an alias for ACTA2 which encodes an actin protein which is involved in cell motility, structure, integrity, and intracellular signaling http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTA2&keywords=mymy5

ACTBL2 is an alias for ACT is involved in actin transcription but the mechanism is not well understood http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTBL2&keywords=actbl2

Clinical Significance

C9orf43 has no known disease associations, however the polyglutamine repeat region is similar to genetic precursors of trinucleotide repeat disorders. An increase in CAG repeat regions is seen in diseases such as Huntington's disease and Spinocerebellar ataxia.

References

^ "Entrez Gene: Chromosome 9 open reading frame 43". Retrieved 2018-05-05.
^ Butland, Stefanie L.; Devon, Rebecca S.; Huang, Yong; Mead, Carri-Lyn; Meynert, Alison M.; Neal, Scott J.; Lee, Soo Sen; Wilkinson, Anna; Yang, George S. (2007-05-22). "CAG-encoded polyglutamine length polymorphism in the human genome". BMC Genomics. 8: 126. doi:10.1186/1471-2164-8-126. ISSN 1471-2164. PMC 1896166. PMID 17519034.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000157653 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000058046 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Database, GeneCards Human Gene. "C9orf43 Gene - GeneCards | CI043 Protein | CI043 Antibody". www.genecards.org. Retrieved 2018-05-05.
^ "BLAT". {{cite web}}: Cite has empty unknown parameter: |dead-url= (help)
^ "C9orf43 - Uncharacterized protein C9orf43 - Homo sapiens (Human) - C9orf43 gene & protein". www.uniprot.org. Retrieved 2018-05-05.
^ "AceView". {{cite web}}: Cite has empty unknown parameter: |dead-url= (help)
^ "NCBI gene". {{cite web}}: Cite has empty unknown parameter: |dead-url= (help)
^ "El Dorado". {{cite web}}: Cite has empty unknown parameter: |dead-url= (help)
^ "NCBI, Unigene EST Profile". {{cite web}}: Cite has empty unknown parameter: |dead-url= (help)
^ "GDS3113 / 167802". www.ncbi.nlm.nih.gov. Retrieved 2018-05-05.
^ "GDS2697 / 1554280_a_at". www.ncbi.nlm.nih.gov. Retrieved 2018-05-05.
^ "GDS2739 / Hs2.190121.2.S1_3p_s_at". www.ncbi.nlm.nih.gov. Retrieved 2018-05-05.
^ "GDS2926 / 3613". www.ncbi.nlm.nih.gov. Retrieved 2018-05-05.
^ "miRDB Search Result Details". www.mirdb.org. Retrieved 2018-05-05.
^ "No query string". unafold.rna.albany.edu. Retrieved 2018-05-05.
^ "Expression of C9orf43 in cancer - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2018-05-05.
^ Kozlowski, Lukasz P. "IPC - ISOELECTRIC POINT CALCULATION OF PROTEINS AND PEPTIDES". isoelectric.org. Retrieved 2018-05-06.
^ "Phyre 2 Results for Undefined". www.sbg.bio.ic.ac.uk. Retrieved 2018-05-05.
^ "SAPS". {{cite web}}: Cite has empty unknown parameter: |dead-url= (help)
^ "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved 2018-05-05.
^ "Protein BLAST: search protein databases using a protein query". blast.ncbi.nlm.nih.gov. Retrieved 2018-05-05.
^ EMBL-EBI. "EBI Tools: Job not available". www.ebi.ac.uk. Retrieved 2018-05-05.
^ "Genomatix: Login Page". www.genomatix.de. Retrieved 2018-05-05.
^ "STRING: functional protein association networks". string-db.org. Retrieved 2018-05-05.

@@ Line 1: / Line 1: @@
 '''Chromosome 9 open reading frame 43''' is a [[protein]] that in humans is encoded by the C9orf43 [[gene]].
-<ref name="entrez">{{cite web|url=http://www.ncbi.nlm.nih.gov/gene/257169|title=Entrez Gene: Chromosome 9 open reading frame 43|accessdate=2018-05-05}}</ref>
+<ref name="entrez">{{cite web|url=http://www.ncbi.nlm.nih.gov/gene/257169|title=Entrez Gene: Chromosome 9 open reading frame 43|accessdate=2018-05-05}}</ref> C9orf43 contains DUF 4647 and polyCAG repeats although the function is largely unkown.<ref>{{Cite journal|last=Butland|first=Stefanie L.|last2=Devon|first2=Rebecca S.|last3=Huang|first3=Yong|last4=Mead|first4=Carri-Lyn|last5=Meynert|first5=Alison M.|last6=Neal|first6=Scott J.|last7=Lee|first7=Soo Sen|last8=Wilkinson|first8=Anna|last9=Yang|first9=George S.|date=2007-05-22|title=CAG-encoded polyglutamine length polymorphism in the human genome|url=https://doi.org/10.1186/1471-2164-8-126|journal=BMC Genomics|volume=8|pages=126|doi=10.1186/1471-2164-8-126|issn=1471-2164|pmc=PMC1896166|pmid=17519034}}</ref>
 === Gene name, protein name, structure,                                 ===
@@ Line 13: / Line 13: @@
 C9orf43 is located on the long arm of chromosome 9 at 9q32, the genomic sequence starting at 113,410,054 bp and ending at 113,429,684 bp.<ref>{{Cite web|url=http://www.genecards.org/cgi-bin/carddisp.pl?gene=C9orf43|title=C9orf43 Gene - GeneCards {{!}} CI043 Protein {{!}} CI043 Antibody|last=Database|first=GeneCards Human Gene|website=www.genecards.org|access-date=2018-05-05}}</ref>  The gene is expressed on the positive strand.<ref>{{Cite web|url=https://genome.ucsc.edu|title=BLAT|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>  C9orf43 is 463 amino acids long and contains 15 introns and 16 exons and DUF4647, a domain of unknown function, from amino acid 1-454.<ref>{{Cite web|url=http://www.uniprot.org/uniprot/Q8TAL5|title=C9orf43 - Uncharacterized protein C9orf43 - Homo sapiens (Human) - C9orf43 gene & protein|website=www.uniprot.org|language=en|access-date=2018-05-05}}</ref>
+==== '''Gene level regulation''' ====
-- Locus (cytogenetic, base coordinates [+/- strand], neighborhood)
 ==== '''Transcripts''' ====
@@ Line 19: / Line 19: @@
 C9orf43 has 3 splice variants, Isoform X1 with accession number NP_001265558.1 is the longest isoform with 461 amino acids and contains 16 exons.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=c9orf43&submit=Go|title=AceView|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref><ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/gene/257169|title=NCBI gene|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>  The other two isoforms, Isoform X2 with accession number NP_001265559.1 and Isoform X3 with accession number XP_011516781.1 are 461 and amino acids long, respectively.
-=== '''Proteins''' ===
-- Known isoforms (by name, size, domain inclusion, abundance)
-- MW, pI, amino acid composition/patterns/repeats
-C9orf43 has a predicted molecular weight of 52.2kD and a predicted isoelectric point of 8.037.<ref>{{Cite web|url=https://www.proteinatlas.org/ENSG00000157653-C9orf43/pathology|title=Expression of C9orf43 in cancer - Summary - The Human Protein Atlas|website=www.proteinatlas.org|access-date=2018-05-05}}</ref><ref>{{Cite web|url=http://isoelectric.org/|title=IPC - ISOELECTRIC POINT CALCULATION OF PROTEINS AND PEPTIDES|last=Kozlowski|first=Lukasz P.|website=isoelectric.org|language=en|access-date=2018-05-06}}</ref>
-- Domains and motifs by homology
-- Secondary structure
-C9orf43 secondary structure is predicted to be 36% alpha helical and 3% beta sheet with 73% disordered.<ref>{{Cite web|url=http://www.sbg.bio.ic.ac.uk/phyre2/phyre2_output/799689104f07ba11/summary.html#c4v1aa|title=Phyre 2 Results for Undefined|website=www.sbg.bio.ic.ac.uk|access-date=2018-05-05}}</ref>
-- 3° and 4° structure (disulfide bonds [Disulfind], topology within membrane)
-=== Regulation ===
-==== '''Gene level regulation''' ====
 ===== Promoter =====
-The promoter region of C9orf43 is predicted to be 1948 base pairs by Genomatix ElDorado and contains part of the 5'UTR.<ref>{{Cite web|url=https://www.genomatix.de/cgi-bin/eldorado/eldorado.pl?s=3350f22d511de1ae92c1ce94093ef11a|title=El Dorado|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>
+The promoter region of C9orf43 is predicted to be 1199 base pairs by Genomatix ElDorado and contains a [[CpG site|CpG island]] and part of the [[Five prime untranslated region|5' UTR]].<ref>{{Cite web|url=https://www.genomatix.de/cgi-bin/eldorado/eldorado.pl?s=3350f22d511de1ae92c1ce94093ef11a|title=El Dorado|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>
 - Transcription factor binding sites
@@ Line 51: / Line 32: @@
 - NCBI GEO profile across all tissues
-Expression is also seen in the fetal liver, lung, liver, brain, heart, spinal cord, pancreas, thymus, salivary gland and placenta.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/geo/tools/profileGraph.cgi?ID=GDS3113:167802|title=GDS3113 / 167802|website=www.ncbi.nlm.nih.gov|access-date=2018-05-05}}</ref>
+Expression is seen in a variety of tissues including the fetal liver, lung, liver, brain, heart, spinal cord, pancreas, thymus, salivary gland and placenta.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/geo/tools/profileGraph.cgi?ID=GDS3113:167802|title=GDS3113 / 167802|website=www.ncbi.nlm.nih.gov|access-date=2018-05-05}}</ref>
 - ''in situ'' hybridization data
+[[File:Protein abundance.pdf|thumb|317x317px|PaxDb showed C9orf43 protein abundance to be normal with normal expression in ''Homo sapiens''.]]
 - protein localization and abundance
@@ Line 70: / Line 52: @@
 - miRNA targeting The 3’ untranslated region of C9orf43 contains 3 predicted stem loop structures with 4 miRNA predicted to bind.<ref>{{Cite web|url=http://www.mirdb.org/cgi-bin/target_detail.cgi?targetID=276138|title=miRDB Search Result Details|website=www.mirdb.org|access-date=2018-05-05}}</ref><ref>{{Cite web|url=http://unafold.rna.albany.edu/cgi-bin/mfold-3.4.cgi|title=No query string.|website=unafold.rna.albany.edu|language=en|access-date=2018-05-05}}</ref>
-==== '''Protein level regulation''' ====
+=== Protein ===
+- Known isoforms (by name, size, domain inclusion, abundance)
-- subcellular localization C9orf43 has a nuclear localization signal, pat4, that is conserved across orthologs, predicting the protein is intracellular.
+C9orf43 has a predicted molecular weight of 52.2kD and a predicted isoelectric point of 8.037.<ref>{{Cite web|url=https://www.proteinatlas.org/ENSG00000157653-C9orf43/pathology|title=Expression of C9orf43 in cancer - Summary - The Human Protein Atlas|website=www.proteinatlas.org|access-date=2018-05-05}}</ref><ref>{{Cite web|url=http://isoelectric.org/|title=IPC - ISOELECTRIC POINT CALCULATION OF PROTEINS AND PEPTIDES|last=Kozlowski|first=Lukasz P.|website=isoelectric.org|language=en|access-date=2018-05-06}}</ref>
-- signal peptide? cleavage site?
+- Domains and motifs by homology
-- acetylation
+- Secondary structure
-- glycosylation
+C9orf43 secondary structure is predicted to be 36% alpha helical and 3% beta sheet with 73% disordered.<ref>{{Cite web|url=http://www.sbg.bio.ic.ac.uk/phyre2/phyre2_output/799689104f07ba11/summary.html#c4v1aa|title=Phyre 2 Results for Undefined|website=www.sbg.bio.ic.ac.uk|access-date=2018-05-05}}</ref>
-- lipid anchor attachment
+- 3° and 4° structure (disulfide bonds [Disulfind], topology within membrane)
-- SUMOylation
-- phosphorylation
-Post translational modifications predicted were SUMOylation, O-linked glycosylation, N-acetylgluocose addition, and phosphorylation using EXPASY. <ref>{{Cite web|url=https://www.ebi.ac.uk/Tools/services/web/toolresult.ebi?jobId=emboss_sixpack-I20180202-224756-0543-89878827-p2m&analysis=summary|title=EBI Tools: Job not available|last=EMBL-EBI|website=www.ebi.ac.uk|language=en|access-date=2018-05-05}}</ref>
-=== '''Homology / Evolution''' ===
+==== '''Composition''' ====
+Composition analysis of C9orf43 showed amino acid frequencies within 1.5% of normal human proteins except for Glutamine.<ref>{{Cite web|url=https://www.ebi.ac.uk/Tools/services/web/toolresult.ebi?jobId=saps-I20180420-021504-0217-33167368-p1m|title=SAPS|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>  Glutamine is present in higher frequencies than is seen in other human proteins.
-- Orthologs (range of organisms possessing orthologs)
+==== '''Homology / Evolution''' ====
-C9orf43 has no known paralogs but has orthologs ranging from mammalian orders to reptile ''Crocodylus porosus''.<ref>{{Cite web|url=http://www.timetree.org/|title=TimeTree :: The Timescale of Life|website=www.timetree.org|access-date=2018-05-05}}</ref>A table of orthologous proteins constructed using BLAST search results contains a small subset of orthologs to exhibit the diversity of C9orf43.<ref>{{Cite web|url=https://blast.ncbi.nlm.nih.gov/Blast.cgi?PROGRAM=blastp&PAGE_TYPE=BlastSearch&LINK_LOC=blasthome|title=Protein BLAST: search protein databases using a protein query|website=blast.ncbi.nlm.nih.gov|language=en|access-date=2018-05-05}}</ref>
+C9orf43 has no known paralogs but has orthologs ranging from mammalian orders to reptile ''Crocodylus porosus''.<ref>{{Cite web|url=http://www.timetree.org/|title=TimeTree :: The Timescale of Life|website=www.timetree.org|access-date=2018-05-05}}</ref>  A table of orthologous proteins constructed using BLAST contains a small subset of orthologs to exhibit the diversity of C9orf43.<ref>{{Cite web|url=https://blast.ncbi.nlm.nih.gov/Blast.cgi?PROGRAM=blastp&PAGE_TYPE=BlastSearch&LINK_LOC=blasthome|title=Protein BLAST: search protein databases using a protein query|website=blast.ncbi.nlm.nih.gov|language=en|access-date=2018-05-05}}</ref>
 {| class="wikitable"
@@ Line 164: / Line 143: @@
 |30%
 |}
-[[File:Molecular Clock.pdf|thumb|189x189px]]
+[[File:Molecular Clock.pdf|thumb|386x386px|C9orf43 is seen to diverge quickly relative to cytochrome c but slowly relative to fibrinogens.]]
-           - Graph showing rate of evolution compared to other genes/proteins
+==== '''Protein level regulation''' ====
+C9orf43 has a nuclear localization signal, pat4, that is conserved across orthologs, predicting the protein is intracellular.
+- signal peptide? cleavage site?
+- lipid anchor attachment
+SUMOylation, O-linked glycosylation, N-acetylgluocose addition, and phosphorylation were post translational modifications predicted using EXPASY. <ref>{{Cite web|url=https://www.ebi.ac.uk/Tools/services/web/toolresult.ebi?jobId=emboss_sixpack-I20180202-224756-0543-89878827-p2m&analysis=summary|title=EBI Tools: Job not available|last=EMBL-EBI|website=www.ebi.ac.uk|language=en|access-date=2018-05-05}}</ref>
 === '''Function / Biochemistry''' ===
@@ Line 190: / Line 177: @@
 ACTBL2 is an alias for ACT is involved in actin transcription but the mechanism is not well understood <nowiki>http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTBL2&keywords=actbl2</nowiki>
-=== '''Clinical Significance''' ===
+==== '''Clinical Significance''' ====
+C9orf43 has no known disease associations, however the polyglutamine repeat region is similar to genetic precursors of [[Trinucleotide repeat disorder|trinucleotide repeat disorders]].  An increase in CAG repeat regions is seen in diseases such as [[Huntington's disease]] and [[Spinocerebellar ataxia]].
-- Pathology
-- Disease association
-- Mutations (SNPs of interest)