ABHD18

Last updated
ABHD18
Identifiers
Aliases ABHD18 , C4orf29, abhydrolase domain containing 18
External IDs MGI: 1915468 HomoloGene: 105457 GeneCards: ABHD18
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_026622

RefSeq (protein)

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
SymbolC4orf29
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 Map of chromosome 4 and location of gene C4orf29.png
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.

OrganismNCBI Accession NumberDivergence from Humans (Million Years)Protein Length (Amino Acids)Sequence Identity to HumanSequence Similarity to Human
Human NP_001034806.10414100%100%
Dog XP_005631879.194.248487%89%
CanaryXP_009094557.129641475%87%
Painted turtle XP_005282815.129646473%83%
Ant XP_011141314.178246846%64%
Flat Worm NP_492206.193737833%50%
Rice NP_001046183.1136936631%47%
Cystobacter violaceus WP_043404439.1253532131%52%
Tertiary structure of C4orf29 Tertiary Structure of Human Protein C4orf29.png
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]

Related Research Articles

<span class="mw-page-title-main">C8orf48</span> Protein-coding gene in the species Homo sapiens

C8orf48 is a protein that in humans is encoded by the C8orf48 gene. C8orf48 is a nuclear protein specifically predicted to be located in the nuclear lamina. C8orf48 has been found to interact with proteins that are involved in the regulation of various cellular responses like gene expression, protein secretion, cell proliferation, and inflammatory responses. This protein has been linked to breast cancer and papillary thyroid carcinoma.

<span class="mw-page-title-main">PRR29</span> Protein-coding gene in the species Homo sapiens

PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.

<span class="mw-page-title-main">Glutamate rich 5</span> Protein-coding gene in the species Homo sapiens

Glutamate rich protein 5 is a protein in humans encoded by the ERICH5 gene, also known as chromosome 8 open reading frame 47 (C8orf47).

<span class="mw-page-title-main">C10orf67</span> Protein-coding gene in the species Homo sapiens

Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human protein-coding gene. Several studies indicate a possible link between genetic polymorphisms of this and several other genes to chronic inflammatory barrier diseases such as Crohn's Disease and sarcoidosis.

<span class="mw-page-title-main">C16orf46</span> Human gene

Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.

<span class="mw-page-title-main">C1orf112</span> Protein-coding gene in the species Homo sapiens

Chromosome 1 open reading frame 112, is a protein that in humans is encoded by the C1orf112 gene, and is located at position 1q24.2. C1orf112 encodes for seventeen variants of mRNA, fifteen of which are functional proteins. C1orf112 has a determined precursor molecular weight of 96.6 kDa and an isoelectric point of 5.62. C1orf112 has been experimentally determined to localize to the mitochondria, although it does not contain a mitochondrial targeting sequence.

<span class="mw-page-title-main">C15orf39</span>

C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.

<span class="mw-page-title-main">C19orf44</span> Mammalian protein found in Homo sapiens

Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.

<span class="mw-page-title-main">CFAP299</span> Protein-coding gene in the species Homo sapiens

Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis.

<span class="mw-page-title-main">CDV3 (gene)</span> Human protein-coding gene

Protein CDV3 homolog also known as carnitine deficiency-associated gene expressed in ventricle 3 is a protein that in humans is encoded by the CDV3 gene.

<span class="mw-page-title-main">C22orf23</span> Protein-coding gene in the species Homo sapiens

C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.

<span class="mw-page-title-main">TMEM81</span> Protein-coding gene in the species Homo sapiens

Transmembrane Protein 81 or TMEM81 is a protein that in humans is encoded by the TMEM81 gene. TMEM81 is a poorly-characterized transmembrane protein which contains an extracellular immunoglobulin domain.

<span class="mw-page-title-main">CCDC121</span> Protein found in humans

Coiled-coil domain containing 121 (CCDC121) is a protein encoded by the CCDC121 gene in humans. CCDC121 is located on the minus strand of chromosome 2 and encodes three protein isoforms. All isoforms of CCDC121 contain a domain of unknown function referred to as DUF4515 or pfam14988.

<span class="mw-page-title-main">SAAL1</span> Protein-coding gene in the species Homo sapiens

Serum amyloid A-like 1 is a protein in humans encoded by the SAAL1 gene.

<span class="mw-page-title-main">C6orf136</span> Protein-coding gene in the species Homo sapiens

C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.

<span class="mw-page-title-main">C11orf98</span> Protein-coding gene in the species Homo sapiens

C11orf98 is a protein-encoding gene on chromosome 11 in humans of unknown function. It is otherwise known as c11orf48. The gene spans the chromosomal locus from 62,662,817-62,665,210. There are 4 exons. It spans across 2,394 base pairs of DNA and produces an mRNA that is 646 base pairs long.

<span class="mw-page-title-main">C4orf19</span> Human C4orf19 gene

C4orf19 is a protein which in humans is encoded by the C4orf19 gene.

<span class="mw-page-title-main">TMEM82</span> Transmembrane Protein 82

Transmembrane protein 82 (TMEM82) is a protein encoded by the TMEM82 gene in humans.

<span class="mw-page-title-main">SCRN3</span> Protein-coding gene in the species Homo sapiens

Secernin-3 (SCRN3) is a protein that is encoded by the human SCRN3 gene. SCRN3 belongs to the peptidase C69 family and the secernin subfamily. As a part of this family, the protein is predicted to enable cysteine-type exopeptidase activity and dipeptidase activity, as well as be involved in proteolysis. It is ubiquitously expressed in the brain, thyroid, and 25 other tissues. Additionally, SCRN3 is conserved in a variety of species, including mammals, birds, fish, amphibians, and invertebrates. SCRN3 is predicted to be an integral component of the cytoplasm.

<span class="mw-page-title-main">TMEM19</span> Protein encoded by the TMEM19 gene

Transmembrane protein 19 is a protein that in humans is encoded by the TMEM19 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000164074 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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.