| TBC1D30 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | TBC1D30 , TBC1 domain family member 30 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 615077 MGI: 1921944 HomoloGene: 18930 GeneCards: TBC1D30 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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TBC1D30 is a gene in the human genome that encodes the protein of the same name. This protein has two domains, one of which is involved in the processing of the Rab protein. Much of the function of this gene is not yet known, but it is expressed mostly in the brain and adrenal cortex.
TBC1D30, also known as KIAA0984, is a protein in the 12th chromosome of the human genome at 12q14.3. [7] The gene for the protein includes two domains: the RabGAP-TBC domain, and the DUF4682 domain. [8] This gene spans 100,076 base pairs in the human genome, [7] but gets condensed down into 7,931 bp for the mRNA transcript, [9] and finally 944 amino acids in its isoform X1 [8] with 12 exons. [10]
There are 9 isoforms of TBC1D30, 3 of which are independent of the genome build. [11]
| Transcript Name | RNA Accession Number | Protein Accession Number | Size [12] | Domains |
|---|---|---|---|---|
| TBC1 domain family member 30 isoform 1 | NM_015279.2 | NP_001317117.1 | 761 aa | 2 |
| TBC1 domain family member 30 isoform 2 | NM_001330186.2 | NP_001317115.1 | 737 aa | 0 |
| TBC1 domain family member 30 isoform 3 | NM_001330187.2 | NP_001317116.1 | 647 aa | 2 |
| TBC1 domain family member 30 isoform X1 | XM_024448901.1 | XP_024304669.1 | 944 aa | 2 |
| TBC1 domain family member 30 isoform X2 | XM_024448902.1 | XP_024304670.1 | 924 aa | 2 |
| TBC1 domain family member 30 isoform X3 | XM_024448903.1 | XP_024304671.1 | 900 aa | 2 |
| TBC1 domain family member 30 isoform X4 | XM_011538078.2 | XP_011536380.1 | 781 aa | 2 |
| TBC1 domain family member 30 isoform X5 | XM_024448904.1 | XP_024304672.1 | 667 aa | 2 |
| TBC1 domain family member 30 isoform X6 | XM_017019087.2 | XP_016874576.1 | 647 aa | 2 |
The first three in the list are independent of the reference genome. The latter 6, labelled with an X, are based on NC_000012.12 Reference GRCh38.p13 Primary Assembly. [11] The domains for each isoform that contains domains are the same RabGAB-TBC and DUF4682 domains. [11] The size column shows the number of amino acids in each protein isoform.[ citation needed ]
TBC1D30 has an isoelectric point of about 8.5. [13] Antibodies revealed TBC1D30 to have a molecular weight of about 90 kDa. [14]
The most likely promoter for TBC1D30 is about 1,279 base pairs, with a start at 64,779,516 and an end at 64,780,794. [15]
The TBC1D30 protein has been found in or associated with the cytoplasm and the plasma membrane from antibody studies. [14]
The protein is mostly found to be expressed in tissues of the brain and adrenal glands. [16] [11]
There is a microRNA binding site within the 3' UTR of the TBC1D30 gene for the hsa-miR-194-5p miRNA. [17] This microRNA is involved in the Wnt/Beta-catenin signaling pathway. [18]
The protein contains some possible myristoylation, amination, and phosphorylation sites. [19] There are also some degradation sites within the RabGAP-TBC domain. [20]
TBC1D30 has a large amount of orthologs. Analysis of these homologs allow us to ascertain the most important amino acids, i.e., the ones that are conserved. The most highly conserved amino acids among vertebrates, invertebrates, fungi, plants, bacteria and protists with available sequences were trp236, arg255, trp259, ile297, asp300, arg303, thr304, leu321, leu325, ala327, gly336, tyr337, cys338, gln339, leu349, glu356, pro399, trp432, trp450, asp451, arg463, and leu466. [21] [22] The RabGAP domain within the gene originated approximately 4 billion years ago, as it is present within Terriglobus roseus, [23] which is an acidobacterium that diverged from humans 4.09 billion years ago. [24] The whole gene likely originated approximately 1.3 billion years ago, as there are still amino acids conserved past the RabGAP domain, and into the DUF4682 domain for Lithospermum erythrorhizon and Nicotiana attenuata. [23] These two plants diverged from humans about 1.275 billions years ago. [24]
The gene is evolving at a slower pace than Fibrinogen alpha, which evolves very quickly, but at a faster pace than Cytochrome C, which evolves very slowly.
TBC1D30 likely interacts with STX3, [25] ZRANB1 [26] and ESR1. [27] These interactions were found through affinity capture and Western blot, affinity capture and mass spectrometry, and two-hybrid screening respectively. [28]
A Single Nucleotide Polymorphism (SNP), rs11615287, at the start of the RabGAP-TBC domain [29] is likely to be damaging to the protein. [30]
Studies have investigated how TBC1D30 affects insulin processing. [31]
EVI5L is a protein that in humans is encoded by the EVI5L gene. EVI5L is a member of the Ras superfamily of monomeric guanine nucleotide-binding (G) proteins, and functions as a GTPase-activating protein (GAP) with a broad specificity. Measurement of in vitro Rab-GAP activity has shown that EVI5L has significant Rab2A- and Rab10-GAP activity.
Uncharacterized protein C2orf73 is a protein that in humans is encoded by the C2orf73 gene. The protein is predicted to be localized to the nucleus.
Chromosome 6 open reading frame 62 (C6orf62), also known as X-trans-activated protein 12 (XTP12), is a gene that encodes a protein of the same name. The encoded protein is predicted to have a subcellular location within the cytosol.
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.
Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.
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.
The FAM214B, also known as protein family with sequence similarity 214, B (FAM214B) is a protein that, in humans, is encoded by the FAM214B gene located on the human chromosome 9. The protein has 538 amino acids. The gene contain 9 exon. There has been studies that there are low expression of this gene in patients with major depression disorder. In most organisms such as mammals, amphibians, reptiles, and birds, there are high levels of gene expression in the bone marrow and blood. For humans in fetal development, FAM214B is mostly expressed in the brains and bone marrow.
FAM120AOS, or family with sequence similarity 120A opposite strand, codes for uncharacterized protein FAM120AOS, which currently has no known function. The gene ontology describes the gene to be protein binding. Overall, it appears that the thyroid and the placenta are the two tissues with the highest expression levels of FAM120AOS across a majority of datasets.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
Family with Sequence Similarity 166, member C (FAM166C), is a protein encoded by the FAM166C gene. The protein FAM166C is localized in the nucleus. It has a calculated molecular weight of 23.29 kDa. It also contains DUF2475, a protein of unknown function from amino acid 19–85. The FAM166C protein is nominally expressed in the testis, stomach, and thyroid.
Chromosome 12 Open Reading Frame 50 (C12orf50) is a protein-encoding gene which in humans encodes for the C12orf50 protein. The accession id for this gene is NM_152589. The location of C12orf50 is 12q21.32. It covers 55.42 kb, from 88429231 to 88373811, on the reverse strand. Some of the neighboring genes to C12orf50 are RPS4XP15, LOC107984542, and C12orf29. RPS4XP15 is upstream C12orf50 and is on the same strand. LOC107984542 and C12orf29 are both downstream. LOC107984542 is on the opposite strand while C12orf29 is on the same strand. C12orf50 has six isoforms. This page is focusing on isoform X1. C12orf50 isoform X1 is 1711 nucleotides long and has a protein with a length of 414 aa.
Chromosome 5 open reading frame 22 (c5orf22) is a protein-coding gene of poorly characterized function in Homo sapiens. The primary alias is unknown protein family 0489 (UPF0489).
TEKTIP1, also known as tektin-bundle interacting protein 1, is a protein that in humans is encoded by the TEKTIP1 gene.
THAP domain-containing protein 3 (THAP3) is a protein that, in Homo sapiens (humans), is encoded by the THAP3 gene. The THAP3 protein is as known as MGC33488, LOC90326, and THAP domain-containing, apoptosis associated protein 3. This protein contains the Thanatos-associated protein (THAP) domain and a host-cell factor 1C binding motif. These domains allow THAP3 to influence a variety of processes, including transcription and neuronal development. THAP3 is ubiquitously expressed in H. sapiens, though expression is highest in the kidneys.
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 248, also known as C7orf42, is a gene that in humans encodes the TMEM248 protein. This gene contains multiple transmembrane domains and is composed of seven exons.TMEM248 is predicted to be a component of the plasma membrane and be involved in vesicular trafficking. It has low tissue specificity, meaning it is ubiquitously expressed in tissues throughout the human body. Orthology analyses determined that TMEM248 is highly conserved, having homology with vertebrates and invertebrates. TMEM248 may play a role in cancer development. It was shown to be more highly expressed in cases of colon, breast, lung, ovarian, brain, and renal cancers.
Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. It also goes by the alias LOC133491. The human C5ORF47 gene is primarily expressed in the testis.
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.
