ABHD18 | |||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ABHD18 , C4orf29, abhydrolase domain containing 18 | ||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1915468 HomoloGene: 105457 GeneCards: ABHD18 | ||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome 4 open reading frame 29 | |||||||
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Identifiers | |||||||
Symbol | C4orf29 | ||||||
NCBI gene | 80167 | ||||||
HGNC | 26111 | ||||||
RefSeq | NP_001034806.1 | ||||||
UniProt | Q0P651 | ||||||
Other data | |||||||
Locus | Chr. 4 q28.2 | ||||||
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ABHD18 is a protein that in Homo sapiens is encoded by the ABHD18 gene. [5]
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]
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 |
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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% |
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.
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]
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]
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.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
Glutamate rich protein 5 is a protein in humans encoded by the ERICH5 gene, also known as chromosome 8 open reading frame 47 (C8orf47).
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.
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.
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.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
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.
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.
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.
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.
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.
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.
Serum amyloid A-like 1 is a protein in humans encoded by the SAAL1 gene.
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.
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.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
Transmembrane protein 82 (TMEM82) is a protein encoded by the TMEM82 gene in humans.
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.
Transmembrane protein 19 is a protein that in humans is encoded by the TMEM19 gene.