ABHD18

ABHD18
Identifiers
Aliases	ABHD18 , C4orf29, abhydrolase domain containing 18
External IDs	MGI: 1915468; HomoloGene: 105457; GeneCards: ABHD18; OMA:ABHD18 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4q28.2 Start 127,965,306 bp [1] End 128,039,927 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3 B|3 Start 40,846,970 bp [2] End 40,938,138 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell jejunal mucosa cerebellar vermis monocyte duodenum Achilles tendon Skeletal muscle tissue of rectus abdominis renal medulla biceps brachii gonad Top expressed in heart liver spermatocyte proximal tubule spermatid neural layer of retina jejunum right kidney zygote muscle tissue More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 80167 269423 Ensembl ENSG00000164074 ENSMUSG00000037818 UniProt Q0P651 Q8C1A9 RefSeq (mRNA) NM_001039717 NM_025097 NM_001319305 NM_001319306 NM_001319307 NM_001358451 NM_001358454 NM_026622 RefSeq (protein) NP_001306234 NP_001306235 NP_001306236 NP_001345380 NP_001345383 NP_001034806 NP_001352966 NP_001352967 NP_001352968 NP_001352969 NP_001352970 NP_001352971 NP_001352972 NP_001352973 NP_001352974 NP_001352975 NP_001352976 NP_001352977 NP_079373 NP_080898 NP_001364039 NP_001364040 NP_001364041 Location (UCSC) Chr 4: 127.97 – 128.04 Mb Chr 3: 40.85 – 40.94 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Chromosome 4 open reading frame 29
Identifiers
Symbol	C4orf29
NCBI gene	80167
HGNC	26111
RefSeq	NP_001034806.1
UniProt	Q0P651
Other data
Locus	Chr. 4 q28.2
Search for Structures Swiss-model Domains InterPro

ABHD18 is a protein that in Homo sapiens is encoded by the ABHD18 gene. ^[5]

Gene

ABHD18 is found on the positive strand of the human genome at 4q28.2. It is 74.4 kbp. The gene contains 17 exons. ^[6] The longest mRNA transcript is composed of 13 exons and is 2200 base pairs. ^[5]

Location of C4orf29 on human chromosome 4

Homology

Orthologs

Many orthologs to human ABHD18 have been discovered, with the most distant ortholog with high (over 90%) coverage is found in rice Oryza sativa . ^[8] The protein is not found in fungi. Bacteria of the order Myxobacteria and genus Chitinimonas contain orthologous regions to the C4orf29 protein. The few bacterial homologs indicate a horizontal gene transfer event. The domain of unknown function, DUF2048, is conserved throughout orthologs.

Organism	NCBI Accession Number	Divergence from Humans (Million Years)	Protein Length (Amino Acids)	Sequence identity to Human! !Sequence similarity to Human
Human	NP_001034806.1	0	414	100%	100%
Dog	XP_005631879.1	94.2	484	87%	89%
Canary	XP_009094557.1	296	414	75%	87%
Painted turtle	XP_005282815.1	296	464	73%	83%
Ant	XP_011141314.1	782	468	46%	64%
Flat Worm	NP_492206.1	937	378	33%	50%
Rice	NP_001046183.1	1369	366	31%	47%
Cystobacter violaceus	WP_043404439.1	2535	321	31%	52%

Tertiary structure of C4orf29

Protein

ABHD18 codes a 414 amino acid sequence of 46.9 kDa in humans. The predicted isoelectric point is 9.37. ^[10] The domain of unknown function, DUF2048, is found from amino acid residues 25 to 414 in the precursor C4orf29 protein. ^[11] This domain is part of the alpha/beta hydrolase superfamily, which comprises enzymes that catalyze fat metabolism. Predicted post-translational modifications include glycosylation at residues Ser287 and Ser319 ^[12] and sumoylation ^[13] at the motifs Phe240 to Gly243, Ala377 to Asp340, and Phe408 to Gly411.

Expression

The protein product of ABHD18 in humans is predicted to be a secreted product. It is ubiquitously expressed at low to moderate levels. ^[14] In humans, the protein is found at high levels the digestive tract and parathyroid gland. ^[15] The homologous mouse protein 3110057O12Rik is expressed at high levels in the granule layer of the cerebellum. ^[16]

Clinical significance

ABHD18 contains highly variable numbers of Alu repeats. ^[17] A low number of Alu repeats in the human ABHD18 protein is associated with increase prevalence of hepatocellular carcinoma (HCC) in Asian populations. This information is used as a genetic marker to determine genetic risk of HCC. ^[18] Swine muscle transcriptome analysis indicates high expression of ABHD18 in swine with extreme low levels of fatty acid composition. ^[19]

References

1. GRCh38: Ensembl release 89: ENSG00000164074 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037818 – 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. "C4orf29". NCBI Gene. NCBI. Retrieved 5 May 2015.
6. "C4orf29". NCBI AceView. Retrieved 2015-05-05.
7. "C4orf29". GeneCards Human Gene Database.
8. "NP_001034806". NCBI Protein BLAST.
9. Kelley LA, Sternberg M (2009). "Protein structure prediction on the web: a case study using the Phyre server". Nature Protocols. 4 (3): 363–371. doi:10.1038/nprot.2009.2. hdl: 10044/1/18157 . PMID   19247286. S2CID   12497300 . Retrieved 16 Apr 2015.
10. "C4orf29 (human)". Phosphosite.org. Retrieved 2015-05-05.
11. "uncharacterized protein C4orf29 precursor [Homo sapiens]". NCBI Protein.
12. "NetOGlyc4.0 C4orf29". CBS Prediction Servers.
13. "C4orf29 Sumoylation". ABGENT.
14. "Large-scale analysis of the human transcriptome GDS596". NCBI GeoProfile. Retrieved 2015-05-05.
15. "C4orf29". The Human Protein Atlas. Retrieved 2015-05-05.
16. "3110057O12Rik". Allen Brain Atlas. Retrieved 2015-05-05.
17. Osenberg S, Paz Yaacov N, Safran M, Moshkovitz S, Shtrichman R, Sherf O, Jacob-Hirsch J, Keshet G, Amariglio N, Itskovitz-Eldor J, Rechavi G (June 2010). "Alu sequences in undifferentiated human embryonic stem cells display high levels of A-to-I RNA editing". PLOS ONE. 5 (6) e11173. Bibcode:2010PLoSO...511173O. doi: 10.1371/journal.pone.0011173 . PMC   2888580 . PMID   20574523.
18. Clifford RJ, Zhang J, Meerzaman DM, Lyu MS, Hu Y, Cultraro CM, Finney RP, Kelley JM, Efroni S, Greenblum SI, Nguyen CV, Rowe WL, Sharma S, Wu G, Yan C, Zhang H, Chung YH, Kim JA, Park NH, Song IH, Buetow KH (December 2010). "Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma". Hepatology. 52 (6): 2034–43. doi: 10.1002/hep.23943 . PMC   8259333 . PMID   21105107. S2CID   5286278.
19. Puig-Oliveras A, Ramayo-Caldas Y, Corominas J, Estellé J, Pérez-Montarelo D, Hudson NJ, Casellas J, Folch JM, Ballester M (June 2014). "Differences in muscle transcriptome among pigs phenotypically extreme for fatty acid composition". PLOS ONE. 9 (6) e99720. Bibcode:2014PLoSO...999720P. doi: 10.1371/journal.pone.0099720 . PMC   4057286 . PMID   24926690.