GOLGA8H | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | GOLGA8H , GOLGA6L11, golgin A8 family member H | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | HomoloGene: 85511 GeneCards: GOLGA8H | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Golgin subfamily A member 8H, also known as GOLGA8H, is a protein that in Homo sapiens is encoded by the GOLGA8H gene. Function of the GOLGA8H involves a process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
The most common aliases for GOLGA8H are the following: [3]
GOLGA8H, when compared to many other genes, exists in many different places that span multiple chromosomes:. [4] NCBI lists the gene’s location on the long (q) arm on Chromosome 15 in the q13.2 region, from 30,604,030 - 30,617,827 (13,798 nt in length) [3]
In actuality, when running the FASTA protein sequence of GOLGA8H on BLAT (the BLAST-Like Alignment Tool), it is found to exist in 85 or 87 different locations (depending on an individual’s sex chromosomes). [4] 81 copies of the protein exist on chromosome 15, one copy each on chromosomes 7, 9,10, and 12, and two copies on the Y chromosome [4]
Copies of GOLGA8H in Homo Sapiens
Chromosome: | Number of Copies: |
Chromosome 7 | 1 |
Chromosome 9 | 1 |
Chromosome 10 | 1 |
Chromosome 15 | 81 |
Y Chromosome | 2 |
TOTAL: | |
85 (XX chromosomes*) | |
87 (XY chromosomes*) |
It would be tedious and inefficient to list all gene neighborhoods for the 87 locations of GOLGA8H. Thus, here are surrounding genes of GOLGA8H on chromosome 15 in the q13.2 region listed on NCBI: [3]
Gene Neighborhood of GOLGA8H on Chromosome 15 q13.2 in Homo sapiens [5] :
Gene | Additional Information |
LOC106736468 | Gamma inversion proximal recombination region |
ARHGAP11B | Rho GTPase activating protein |
LOC106736476 | Proximal CHRNA7 low-copy repeat recombination region |
DNM1P50 | Pseudogene of DNM1, which is involved in producing microtubule bundles that is additionally able to bind and hydrolyze GTP |
LOC106736480 | Proximal microdeletion recombination region |
ULK4P2 | Pseudogene of ULK4, which encodes a member of the unc-51-like serine/threonine kinase (STK) family, in which members play a role in neuronal growth and endocytosis |
RN7SL628P | Pseudogene stemming from cytoplasmic 7SL, an RNA component of the SRP (signal recognition particle) |
LOC106783506 | A nonconserved acetylation island sequence 49 enhancer which can function as an enhancer in Jurkat T cells |
There are no isoforms of GOLGA8H. [3]
A multiple sequence alignment (MSA) of GOLGA8H and its top seven paralogs was created using Clustal Omega [1]. [Appendix A] All eight genes from the Golgin Subfamily A Member 8 group were 632 amino acids in length [1]. All 632 amino acids of GOLGA8H and its top seven paralogs were analyzed and compared using Clustal Omega were analyzed and compared in an attempt to understand what makes Golgin Subfamily A Member 8H, GOLGA8H, a distinct entity. Two amino acids make GOLGA8H unique: Valine at amino acid 32 and Cysteine at amino acid 169. [6] For all seven paralogs, the amino acid in position 32 is Isoleucine and the amino acid in position 169 is Arginine [6]
The predicted molecular weight of GOLGA8H, rounded down to three significant figures, is 71.3 kDa. [7] This is a theoretical value; predicted molecular weights are merely based on the amino acids present in the protein. The theoretical isoelectric point of GOLGA8H, rounded down to one significant figure, is a pI of 8 [7]
When compared to other human proteins, GOLGA8H is semi glutamine- and glutamate-enriched. [8] In contrast, GOLGA8H is depleted in threonine, phenylalanine, and tyrosene. [8]
There are no charge runs, hydrophobic segments, or transmembrane domains in the GOLGA8H protein. [8] There are 62 amino acid multiplets for the protein, which is higher than the expected range. [8] It also has amino acid patterns with high periodicity [8]
There are 11 motifs present in GOLGA8H:. [9] The single experimentally-verified motif is a glutamine-rich protein located in the 323-416 amino acid region.
Motif # | Motif Information |
1 | N-Glycosylation site |
2 | cAMP- and cGMP-dependent protein kinase phosphorylation site |
3 | Casein kinase II phosphorylation site |
4 | N-myristoylation site |
5 | Protein kinase C phosphorylation site |
6 | Alanine-rich region profile |
7 | Glutamine-rich region profile (experimentally verified) |
8 | K-box domain profile |
9 | Bipartite nuclear localization signal profile |
10 | HCaRG protein |
11 | Involucrin repeat |
GOLGA8H is predicted to undergo phosphorylation at multiple locations of serine, threonine, and tyrosine throughout its structure. [10] It is expected to undergo phosphorylation most frequently on serine amino acids. [10] Furthermore, there is one predicted N-linked glycosylation site, which occurs at amino acid 39. [10] The sequence for this site is NGS. [10] N-linked glycosylation functions intrinsically and extrinsically to assist in regulating the migration patterns of cells. [11]
The protein is 632 amino acids long. [3] It has 19 exons and two polyadenylation signals. [3] Its sequence only partially matches a Kozak consensus sequence. [3]
The predicted secondary structure of GOLGA8H is composed of 81% alpha helices, 25.6% beta sheets, and 17.2% turns. [12]
Using Phyre2, 284 residues (45% of GOLGA8H) was modeled with 97.8% confidence by the single highest scoring template. [13] This structure shows an extremely high proportion of alpha helices: [13]
A predicted model for a tertiary structure of GOLGA8H was generated using I-TASSER [14]
There is one promoter for the GOLGA8H gene, GXP_2235212, which is 1197 nt long. [15] It lies from base pairs 30,603,030 to 30,604,226 on the positive strand [15]
Several transcription factors are predicted to bind to the promoter sequence. Some examples include: [15]
GOLGA8H has several dozen paralogs. There are seven paralogs with identity similarities above 90%, charted below under GOLGA8H (included as a reference point): [3]
# | Gene Name | Accession # | Similarity (%) |
1. | GOLGA8H | NP_001269419.1 | 100.0 |
2. | GOLGA8J | NP_001269401.1 | 97.8 |
3. | GOLGA8T | NP_001342398.1 | 97.2 |
4. | GOLGA8K | NP_001269422.1 | 93.5 |
5. | GOLGA8I pseudogene | A6NC78.2 | 96.0 |
6. | GOLGA8M | NP_001269397.1 | 95.9 |
7. | GOLGA8O | NP_001264237.1 | 90.7 |
8. | GOLGA8N | NP_001269423.1 | 90.4 |
Putting the amino acid sequence of GOLGA8H through a protein BLAST via NCBI does not yield any hits for orthologs:. [3] However, putting the same sequence through BLAT (the BLAST-Like Alignment Tool) yields multiple orthologs [4]
Organism Common Name | Scientific Name | Divergence (MYA) [16] | BLAT Hits | Main Chromosome Location | Other Chromosome Locations |
---|---|---|---|---|---|
Human | Homo sapiens | - | 87 | Chromosome 15 | Chromosomes 7, 9, 10, 12, Y |
Rhesus Macaque | Macaca mulatta | 6 | 70 | Uncharacterized** | Chromosomes 2, 3, 7, 9, 11, 15 |
Golden Snub-Nosed Monkey | Rhinopithecus roxellana | 6 | 54 | Uncharacterized** | - |
Olive Baboon | Papio anubis | 9 | 45 | Uncharacterized** | Chromosomes 2, 7, 9, 11 |
Gorilla | Gorilla gorilla | 15 | 37 | Chromosome 15 | Chromosomes 7, 10, 12 |
Crab-Eating Macaque | Macaca fascicularis | 20 | 36 | Chromosome 7 | Chromosomes 2, 3, 6, 9, 11, 15 |
Chimpanzee | Pan troglodytes | 29 | 35 | Chromosome 15 | Chromosomes 7, 8, 12, Y |
Bornean orangutan | Pongo pygmaeus | 29 | 34 | Chromosome 15 | Chromosomes 5, 7, 9, 10, 12, 19 |
Bonobo | Pan paniscus | 29 | 25 | Chromosome 15 | Chromosomes 6, 7, 9, 10, 12 |
Northern White-Cheeked Gibbon | Nomascus leucogenys | 29 | 24 | Chromosome 6 | Chromosomes 5, 8, 10, 16, 17, 18 |
Green Monkey | Chlorocebus sabaeus | 29 | 21 | Chromosome 26 | Chromosomes 9, 11, 12, 21, 22, 29 |
Proboscis Monkey | Nasalis larvatus | 29 | 19 | Chromosome 7 | Chromosomes 3, 9, 11, 15 |
Common Marmoset | callithrix jacchus | 42 | 4 | Chromosome 6 | Chromosome 9 |
Horse (Domesticated) | Equus ferus caballus | 89 | 3 | Chromosome 29 | Chromosome 25 |
Gray Short-Tailed Opossum | Monodelphis domestica | 94 | 3 | Chromosome 3 | - |
Common House Mouse | Mus musculus | 94 | 3 | Chromosome 11 | - |
Dog (Domesticated) | Canis familiaris | 94 | 3 | Chromosome 15 | - |
Taurine Cow | Bos taurus | 160 | 1 | Chromosome 13 | - |
**Chromosomes labeled as 'uncharacterized' have clone contigs (an assembled set of overlapping DNA sequences) that cannot be confidently placed on a specific chromosome. Similar contigs are concatenated together into short pseudo-chromosomes.
Data from NCBI shows that GOLGA8H in Homo sapiens has the strongest expression is through the thyroid and testis, with RKPMs of 12.2 and 12.1 respectively. It is also expressed in lesser amounts in 25 other tissues. [3] Data from GEO DataSet show the tissue expression is highest in bone marrow and pancreas tissue. [17] However, samples from all tissues were above the 90th percentile, indicating that the expression value of that gene is much higher in respect to all other genes on the array. [17]
When comparing GOLGA8H tissue expression in abnormal conditions to normal human tissue levels, there is not significant deviation in its expression with any variable. [17] This supports the notion that GOLGA8H is ubiquitous.
GOLGA8H has been shown to interact with Ubiquitin C (UBC). [18] UBC is a polyubiquitin precursor. Polyubiquitin precursors are a chain of the protein ubiquitin that can be turned into an active form by post-translational modifications. This can mark proteins for degradation, alter their cellular location, affect their activity, and promote or prevent protein interactions. Further research on the link between ubiquitin and the Golgi apparatus include a reliance on ubiquitin to achieve certain processes around the Golgi apparatus. [19] [20]
String db lists the following genes as interacting with GOLGA8H: [21]
Gene Name | Full Name | Accession Number [5] | Experimentally- Determined | Coexpression | Text Mining |
STX5 | Syntaxin 5 | NC_000011.10 | ✓ | ✓ | ✓ |
GORASP1 | Golgi reassembly stacking protein 1 | NC_000003.12 | ✓ | ✓ | ✓ |
GOSR1 | Golgi SNAP receptor complex member 1 | NC_000017.1 | ✓ | ✗ | ✓ |
USO1 | USO1 vesicle transport factor | NC_000004.12 | ✓ | ✗ | ✓ |
GOLGB1 | Golgin B1 | NC_000003.12 | ✓ | ✓ | ✓ |
The Homo sapiens GOLGA8H gene has 1 splice variant [22]
Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.
Zinc finger protein 684 is a protein that in humans is encoded by the ZNF684 gene.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
C17orf53 is a gene in humans that encodes a protein known as C17orf53, uncharacterized protein C17orf53. It has been shown to target the nucleus, with minor localization in the cytoplasm. Based on current findings C17orf53 is predicted to perform functions of transport, however further research into the protein could provide more specific evidence regarding its function.
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 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.
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.
Testis-expressed protein 9 is a protein that in humans is encoded the TEX9 gene. TEX9 that encodes a 391-long amino acid protein containing two coiled-coil regions. The gene is conserved in many species and encodes orthologous proteins in eukarya, archaea, and one species of bacteria. The function of TEX9 is not yet fully understood, but it is suggested to have ATP-binding capabilities.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
Uncharacterized protein C16orf86 is a protein in humans that is encoded by the C16orf86 gene. It is mostly made of alpha helices and it is expressed in the testes, but also in other tissues such as the kidney, colon, brain, fat, spleen, and liver. For the function of C16orf86, it is not well understood, however it could be a transcription factor in the nucleus that regulates G0/G1 in the cell cycle for tissues such as the kidney, brain, and skeletal muscles as mentioned in the DNA microarray data below in the gene level regulation section.
FAM178B is a protein coding that is located on the plus strand of chromosome 2. The locus for the gene is 2q11.2. It is also known by the aliases Family with Sequence Similarity 178, Member B, and HSPC234. In total there are 24 exons in the gene. FAM178B spans 110,720 base pairs, and contains 827 amino acids.
Chromosome 1 open reading frame (C1orf167) is a protein which in humans is encoded by the C1orf167 gene. The NCBI accession number is NP_001010881. The protein is 1468 amino acids in length with a molecular weight of 162.42 kDa. The mRNA sequence was found to be 4689 base pairs in length.
C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.
TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.
C14orf180 is found on chromosome 14 in humans: 14q32.33. It consists of 1832 bp and 160 amino acids post translation. There is a total number of 6 exons. C14orf180 is also known as NRAC, C14orf77, and Chromosome 14 Open Reading Frame 180.
Synaptosome-associated protein, 47 kDal (SNAP47) is a human protein encoded by the SNAP47 gene. Other aliases of this gene are SVAP1, HEL170, ESFI5812, and HEL-S-290. SNAP47 is a synaptosome protein which is associated with the protein coding in multiple diseases, including non small cell lung cancer and schizophrenia. SNAP47 is a member of the SNAP protein family. SNAP proteins are t-snare proteins that are a component of SNARE complex. The SNARE complex mediates vesicle fusion by creating tight complex that brings vesicle and membrane together. This protein causes ubiquitous expression in testis, ovary, and many other tissues
RING Finger Protein 227, also known as RNF227 and LINC02581, is a protein which in humans is encoded by the RNF227 gene. According to DNA microarray data, it is found in at least 15 tissues.
Chromosome 9 open reading frame 85, commonly known as C9orf85, is a protein in Homo sapiens encoded by the C9orf85 gene. The gene is located at 9q21.13. When spliced, four different isoforms are formed. C9orf85 has a predicted molecular weight of 20.17 kdal. Isoelectric point was found to be 9.54. The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation.
Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.
Transmembrane protein 19 is a protein that in humans is encoded by the TMEM19 gene.