SMIM19

Last updated
SMIM19
Identifiers
Aliases SMIM19 , C8orf40, small integral membrane protein 19
External IDs MGI: 2142501 HomoloGene: 26703 GeneCards: SMIM19
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001135674
NM_001135675
NM_001135676
NM_138436
NM_001363186

Contents

NM_001012667
NM_001146117

RefSeq (protein)

NP_001129146
NP_001129147
NP_001129148
NP_612445
NP_001350115

NP_001012685
NP_001139589

Location (UCSC) Chr 8: 42.54 – 42.56 Mb Chr 8: 22.95 – 22.97 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SMIM19, also known as Small Integral Membrane Protein 19, encodes the SMIM19 protein. [5] SMIM19 is a confirmed single-pass transmembrane protein passing from outside to inside, 5' to 3' respectively. [5] [6] SMIM19 has ubiquitously high to medium expression with among varied tissues or organs. [7] [8] The validated function of SMIM19 remains under review because of on sub-cellular localization uncertainty. [9] However, all linked proteins research to interact with SMIM19 are associated with the endoplasmic reticulum (ER), presuming SMIM19 ER association [10]

Gene

SMIM19 is also commonly known and referenced as C8orf40 (chromosome 8 open reading frame 40). [5] SMIM19 also has a few other lesser known names, such as LOC114926, Doyzeeby, and Beeveybu. [11] The SMIM19 gene is located on the plus strand at 8p11.21 in humans. [11] The SMIM19 gene is composed of 4 total exons and spanning 14.04 kb from 42,541,155 bp to 42,555,193 bp. [5] [12] The upstream neighboring gene to SMIM19 is SLC20A2. [5]

Transcripts

Variants

There are four validate transcript variants for SMIM19 that all encode the same protein, as they only differ in sequence within the 5' UTR. [5] Transcript variant 1 represents the longest transcript [5]

Transcript Variants of SMIM19 [5]
Transcript VariantRefSeq AccessionLengthDescriptionNumber of Exons
Transcript Variant 1 NM_001135674.2 3704 bpEcodes Isoform 14
Transcript Variant 2 NM_001135675.2 3486 bpEcodes Isoform 1; Lacks portion of 5' UTR4
Transcript Variant 3 NM_138436.4 3036 bpEcodes Isoform 1; Lacks portion of 5' UTR4
Transcript Variant 4 NM_001135676.2 2967 bpEcodes Isoform 1; Lacks portion of 5' UTR4
SMIM19 Transcript Variants 1-4, retrieved from AceView. SMIM19 Transcript Variants 1-4.png
SMIM19 Transcript Variants 1–4, retrieved from AceView.

Features

The SMIM19 mRNA is composed of one major polyadenylation sequence and site combination and three alternative ones, along with an upstream in-frame stop codon. [12] Not all variants contain the upstream in-frame stop codon as it is present in the portion of the 5' UTR that varies. The polyadenylation sequences and site are consistent among all transcript variants.

Protein

Isoforms

There is only one validated SMIM19 protein isoform that is encoded by all four transcript variants. It is 107 amino acids long with a molecular weight of 12.44 kDa. [5] [13] [14] The isoelectric point varies among SMIM19 organism and shows a pattern based on taxonomical group, likely due to post-modification variations between taxonomical group [13]

Isoelectric Point Taxonomical Pattern [13]
OrganismTaxonomical GroupIsoelectric Point (pH)
Homo sapiensMammal5.3
Mus MusculusMammal5.62
Danio rerioFish5.78
Xenopus tropicalisAmphibian6.08
Trachemys scripta elegansReptile7.97
Gopherus evgoodeiReptile7.97
Gallus gallusBird9.34
Taeniopygia guttataBird9

Amino Acid Composition

The SMIM19 protein contains a validated transmembrane region. [14] There is no indication that SMIM19 is rich or poor in any amino acid; no amino acid or combination of amino acids were outside of the standard deviation in relation to abundance. [14] There was no significance detected with the spacing of cysteines as SMIM19 contains none. [14] Similarly, there were no repetitive structures i.e., separated, tandem or periodic repeats, found in SMIM19 protein sequence [14]

Transmembrane/ Hydrophobic Region

TMpred graphic output for SMIM19 Homo sapiens protein sequence. TMpred graph.png
TMpred graphic output for SMIM19 Homo sapiens protein sequence.

The SMIM19 protein contains a transmembrane region, which is also considered a hydrophobic region that spans 19 amino acids. [14] The right a TMpred output predicted orientation analysis of the SMIM19 protein demonstrates that the protein is likely oriented outside to inside, which was used to structure the TOPO2 diagram. [6] [15]

SMIM19 Transmembrane Domain Display, retrieved from TOPO2 TOPO2 SMIM19 TM Display.png
SMIM19 Transmembrane Domain Display, retrieved from TOPO2

Positive Amino Acid Run

Consistent with the majority of SMIM19 homologs, there is a positive amino acid run almost immediately following the transmembrane region: KRR (Lysine, Arginine, Arginine). [14]

Motifs

There were four matches for motifs with the SMIM19 sequence that are predicted to be significant. Casein kinase 2 can play a role in cell cycle regulation, DNA repair, and necessary for cell survival; down-regulation of Casein kinase 2 can promote tumorigenesis. Protein kinase C is a protein-regulator and is highly involved in various signaling cascades. Dendritic Cells- Specific Transmembrane Protein (DC-STAMP) is a seven- pass transmembrane protein specifically found in dendritic cells, often associated with immunological functions. [16] Based on Eukaryotic Linear Motif predictions, there are strong sequence matches for cleavage site motifs following the transmembrane region, which also remain consistent among orthologs [17]

Eukaryotic Linear Motif SMIM19 predicted cleavage sites SMIM19 predicted cleavage sites.png
Eukaryotic Linear Motif SMIM19 predicted cleavage sites
Motif Sequence Matches with SMIM19 Protein [16]
Motif NameAbbreviationAmino Acid PositionAmino Acid Sequence
Casein kinase II phosphorylation siteCK2_PHOSPHO_SITE17-20TVHE
Casein kinase II phosphorylation siteCK2_PHOSPHO_SITE62-65TVHE
Protein kinase C phosphorylation sitePKC_PHOSPHO_SITE87-89SRK
DC-STAMP-like proteinDC_STAMP31-54IVILVSFGLFMYAKRNNKRRIMRIF

Secondary Structure

Phyre2 predicted SMIM19 protein structure Phyre2 SMIM19 secondary structure.png
Phyre2 predicted SMIM19 protein structure

Based on ALI2D and Phyr2 (diagram pictured) data, it is determined that an alpha helix is likely present at the beginning of the sequence right before the transmembrane sequence with high confidence analysis. [18] [19] The transmembrane region structure following this first alpha helix, varies in structure per program used for analysis, so no conclusions could be made. [18] [19] The second beta sheet is consistent amongst various programs, and is likely a strong candidate for prediction. [18] [19] Following this, the large alpha helix predicted remains fairly consistent through all orthologs with high confidence from both Pyre2 and ALI2D. [18] [19] The end beta sheet is consistent between program analyses and predictions but remains in low confidence, so no definitive conclusions could be made. [18] [19]

Tertiary Structure

I-TASSER SMIM19 upstream sequence tertiary prediction I-TASSER tertiary structure prediction for SMIM19 upstream sequence to TM.png
I-TASSER SMIM19 upstream sequence tertiary prediction
I-TASSER SMIM19 downstream sequence tertiary prediction I-TASSER SMIM19 downstream sequence to TM.png
I-TASSER SMIM19 downstream sequence tertiary prediction

I-Tasser results of both the SMIM19 upstream and down stream sequence to the transmembrane domain (pictured left and right respectively) were analyzed with iCn3D. [20] [21] The SMIM19 protein is analyzed as a whole cause the cytosolic and extracellular sequence flanking the transmembrane domain attempt to coil together, producing a false predicted 3D structure as they should never interact being there is a membrane between them. Therefore, each upstream and downstream sequences was analyzed separately. Within each diagram there is a yellow highlighted section where the transmembrane sequence would meet each respective sequence. [20] [21] No strong conclusions can be made about SMIM19 tertiary structure beyond a large alpha helix present in the downstream sequence to the transmembrane region, consistent with Ali2D and Phyr2 results above [18] [19] [20] [21]

Regulation and Expression

Gene-level Regulation

Promoter

The most conserved promoter among SMIM19 orthologs was GXP_9002686 on the positive strand spanning 1962 bp, located between 42,540,128 and 42,542,089. It is also supported by the greatest number of transcripts. [22]

Unique Promoter Results for SMIM19 [22]
Promoter IDSize (bp)StartEndStrandNumber of Transcripts
GXP_900268619624254012842542089+10
GXP_205977710474254014842541194+1
GXP_952656710404254260542543644+0
GXP_952656810404254424842545287+0
GXP_321248112064254526242546467+1
GXP_952656910404254736442548403+0

Transcription factors

The below selected transcription factors were chosen based on conservation among species first, and then further parsed for high matrix similarity and high number of proposed binding sites with in an extended SMIM19 promoter region. Conservation was highest further that desired from transcription start site. [22]

SMIM19 Transcription Factors [22]
Transcription FactorDescriptionStrandMatrix SimilaritySequence
FKHDFork head domain factors+1caaaaaaAACAaaacaa
FKHDFork head domain factors+1caaaaaaAACAaaacaa
FKHDFork head domain factors+0.999gcccggcAAACaatcag
PIT1GHF-1 pituitary specific POU domain transcription factor+0.953tatataaatACATataaat
HOMFHomeodomain transcription factor+0.995gtgagttTAATtgtaacag
CARTCart-1 (catrilage homeoprotein 1)+0.995gagttTAATtgtaacagatga
HBOXHomeobx transcription factors+0.944gacttatAATTaccagtca
DLXFDisral-less homeodomain transcription factors-0.989gctgactggtAATTataag
HOXFParalog hox genes 1-8 from the four hox clusters A, B, C, D+0.985acttctaATTAccagtcag
LHXFLim homeodomain factors-0.979tatacatttTGATtaagttctct
CAATCCAAT binding factors+0.926ccagCCACtgacatc
OTC1Octamer binding protein+0.992cctATGCaaattcat
BRNFBm Pou domain factors-0.982cttgacctaagTAATgaat
CARTCart-1 (catrilage homeoprotein 1)-0.995ttattTAATtgtgtagtgact
ARIDAT rich interactive domain factor+0.985taaaAATAcccaaaagggact
FKHDFork head domain factors+1ttttgaaAACActacgg
NR2FNuclear receptor subfamily 2 factors+0.904cctggtgggaCAATgtacacgaccc
NKXHNkx homeodomain factors+0.986cagcgTGAGtgbccccgcg
MYBLCellular and Viral myb-like transcriptional regulators-0.957gggccgccgCAACtggcccgt
ETSFHuman and murine ETS1 factors-0.991ctctcccaGGAAgcagcccgg
Human Protein Atlas SMIM19 RNA Expression Overview Human Protein Atlas SMIM19 RNA Expression Overview.png
Human Protein Atlas SMIM19 RNA Expression Overview

Expression Patterns

According to RNA-seq data from Human Protein Atlas, SMIM19 has ubiquitously medium to high expression in all tissues with low specificity. [8] Comparatively, there is higher expression in liver, muscle, some glandular tissue, and various immune cells. [8] Expression in the brain is comparatively consistently lower. [8]

ChIP data for SMIM19 in Mus musculus Chromatin immunoprecipitation (ChIP) data for SMIM19 in various tissues in Mus musculus.png
ChIP data for SMIM19 in Mus musculus

Chromatin Immunoprecipitation (ChIP) data for SMIM19 in mice even more confidently display ubiquitously medium to high expression in tissue; No tissue seems to fall below the 50 percentile rank for expression. Muscle tissue has high expression in mice as well. Adipose tissue and diaphragm tissue uniquely are high in expression comparatively. in situ hybridization data of SMIM19 expression in sagittal sectioning of whole embryos produced no definitive conclusions. No significantly abnormal cellular expression were observed.  SMIM19 appears to be uniformly expressed.

Genepaint full mouse embryo ISH Genepaint full mouse embryo ISH.png
Genepaint full mouse embryo ISH

Transcript-level Regulation

miRNA binding sites

Hsa-miR-1206 and hsa-miR-433-3p were both highly ranked microRNAs in reference to predicted sequence matching with SMIM19 transcript. Each position and predicted sequence pairing is displayed in the image below.

Target Scan MicroRNA Matches Target Scan MicroRNA Predictions.png
Target Scan MicroRNA Matches

mRNA-binding proteins

The tables below represent the most significant RNA-binding proteins based on relevancy and match score to the SMIM19 5’ UTR and 3’ UTR. Selection was not based on conserved sequence observed between orthologs being there is little conservation of the SMIM19 5’ and 3’ UTR outside of mammals.

SMIM19 5' UTR Selected RNA-binding Protein Predictions [24]
RBP NameFull NameScoreRelative ScoreTranscript PositionMatching SequenceSummary
SFRS1splicing factor, arginine/serine-rich 110.87100%413-419ACGCGCAProtein can activate or repress splicing; regulator of splicing
FUSfused in sarcoma7.37100%771-774GGUGPart of a complex involved on pre-mRNA splicing and export of mRNA to the cytoplasm
EIF4Beukaryotic translation factor 4B8.0588%431-437GCGGAAAProtein required for binding og mRNA to ribosomes
sap-49spliceosome associated protein7.5686%120-125GCGUGAInvolved in various pre-mRNA splicing complexes
ZRANB2zinc finger, RAN-binding domain containing 28.3981%27-32CGGUAAProtein is a splicing factor required for alternative splicing of specific transcripts
SMIM19 3' UTR Selected RNA-binding Protein Predictions [24]
RBP NameFull NameScoreRelative ScoreTranscript PositionMatching SequenceSummary
SNRPAsmall nuclear ribonucleoprotein polypeptide A11.95100%1995-2001AUUGCACAssociates with a protein to bind 5' splice site of precursor mRNAs; required for splicing
NONOnon-POU domain containing, octomer-binding8.95100%1491-1495AGGGAPlays a role in transcriptional regulation and RNA splicing
PABPC1poly(A) binding protein, cytoplasmic 18.72100%1388-1392AAAAAProtein shuttles between nucleus and cytoplasm and binds 3' poly(A) tail of eukaryotic messenger RNA
RBMY1A1RNA binding motif protein, Y-linked, family 1, member A18.67100%2149-2153CUCAAFunctions as a splicing regulator
a2bp1Fox-1 homolog A (Ataxin 2-binding protein 1)8.65100%906-910GCAUGRegulates tissue-specific alternative splicing

Secondary structure

RNAfold predicted 3' UTR significant stem and loop RNAfold predicted stem and loop structure in SMIM19 3' UTR.png
RNAfold predicted 3' UTR significant stem and loop

Large variation in SMIM19 5' UTR between variants within Homo sapiens and orthologs, makes secondary structure of possible regulation site fairly unreliable.

Relatively consistent 3' UTR produced one conserved stem-loop structure (pictured on right). [25] With such a long SMIM19 3' UTR, a predicted secondary structure is improbable.

Protein-level Regulation

Sub-cellular Localization

There is much uncertainty in the SMIM19 sub-cellular localization.

Analyzed as a whole protein, SMIM19 is predicted as type 1b for membrane topology meaning it does not have a cleavable signal sequence but does have a transmembrane segment but not located near the C-terminus. Type 1b proteins favor localization at the ER. With high discrepancy of the localization of SMIM19 between nuclear or cytoplasmic, the Homo sapiens protein with majority ortholog confirmation is predicted to be a cytoplasmic protein. [9]

Being there may be a cleavage site and signal sequence after the transmembrane sequence, SMIM19 analysis of the C-terminus and N-terminus separately produced varying results. [9] The N-terminus is suggested to be located within the cytoplasm and have the same membrane topology as described above. [9] The C-terminus is shown to have a mitochondrial targeting sequence and predicted to localize at the mitochondria [9]

Post-translational Modifications

High scoring values with low p-values provide confidence in the prediction of interactions to both the phosphorylation site and SUMO Interaction site with SMIM19. A SUMO interaction matched with a short sequence within the SMIM19 transmembrane region, likely meaning it is involved in the degradation process of the protein as that would likely be the only time SMIM19 is removed from the membrane resulting in the sit being exposed.

With high confidence via Myristolator, it is predicted that SMIM19 is created and cut to reveal the 4th glycine as the n-terminal glycine. [26] This was determined with a 24 positive to 1 negative average response to neural networks with a confidence level of 0.855 where high is greater than 0.85 and less than 1. [26] As the first three glycine predicted non-myristylation 0:25, positive: negative respectfully. [26] This adds to the conclusion that SMIM19 protein is membrane associated.

SMIM19 Post-Translational Modification Predications
Post-Modification TypeAmino Acid PositionPeptideScoreP-value
SUMO Interaction30-34LIVIL51.390.017
Sumoylation Nonconcensus89K5.80.052
Phosphorylation Site13S40.04N/A

Homology and Evolution

Paralogs

There are no paralogs of SMIM19 currently present in the human genome.

Orthologs

The oldest known ancestors of SMIM19 are invertebrates; invertebrates are the most distant homologs of SMIM19 detectable. No homologs of SMIM19 were evolutionarily found past Invertebrates; the gene is not found in plants, bacteria, etc. The gene is also not present in the Insecta class, within the invertebrates.

Selected SMIM19 Orthologs
Genus speciesCommon NameTaxonomical GroupAccession #Date of Divergence from Human Lineage (MYA)Sequence Length (amino acids)Sequence Identity to Human ProteinSequence Similarity to Human Protein
Homo sapiens HumanMammalia NP_001129147 N/A107100%100%
Mus musculus House MouseMammalia NP_001012685 9011282%90%
Gopherus evgoodei Goode's Thronscrub TortoiseReptilia XP_030421196 31211565%77%
Gallus gallus ChickenAves NP_001183985 31211859%75%
Taeniopygia guttata Zebra FinchAves XP_030127447 31212259%72%
Trachemys scripta elegans Red-Eared SliderReptilia XP_034628522 31810869%82%
Xenopus tropicalis Western Clawed FrogAmphibia NP_001016254 351.810172%86%
Rhinatrema bivittatum Two-Lined CaecilianAmphibia XP_029432756 351.89965%78%
Danio rerio ZebrafishActinopterygii NP_001020706 43510470%88%
Betta splendens Siamese Fighting FishActinopterygii XP_029020899 43511464%82%
Sphaeramia orbicularis Orbiculate CardnalfishActinopterygii XP_030001408 43511760%79%
Callorhinchus milii Australian GhostsharkChondrichthyes XP_007905737 4739862%76%
Amblyraja radiata Thorny SkateChondrichthyes XP_032876338 47310856%74%
Petromyzon marinus Sea LampreyHyperoartia XP_032806823 61510148%64%
Strongylocentrotus purpuratus Purple Sea UrchinEchinoidea XP_030841965 68410536%58%
Anneissia japonicaFeather StarCrinoidea XP_033119401 68410032%55%
Acanthaster planci Crown-of-Thorns StarfishAsteroidea XP_022098243 68410732%52%
Branchiostoma floridae Florida LanceletLeptocardii XP_035671756 68411834%52%
Asterias rubens Common StarfishAsteroidea XP_033633586 68410631%50%
Saccoglossus kowalevskii Acorn Worm; HemichordateEnteropneusta XP_002733905 6849531%50%

Evolutionary context

Unrooted Phylogenetic Tree

Phylogenetic tree from diverse set of selected homologs of SMIM19 Phylogenetic tree.png
Phylogenetic tree from diverse set of selected homologs of SMIM19
SMIM19 Gene Rate of Evolution SMIM19 rate of evolution.png
SMIM19 Gene Rate of Evolution

Rate of Evolution

SMIM19 has a comparatively fast evolution rate, estimated to be about 7 amino acid changes per 100 residues per one million years.

Interacting Proteins

SMIM19 Interacting Proteins [10]
Linked ProteinProtein NamePossible Function
O43681 ATPase GET3ATPase required for post-translational delivery of tail-anchored (TA) proteins to the ER.
Q12797-6 Aspartyl/ asparaginyl beta-hydroxylaseBased on isoform, either hydroxylates Asp or Asn in EGF domains in some proteins or is a Calcium-sensing protein in the ER plasma membrane junctions.
Q8N5M9 Protein jagunal homolog 1Endoplasmic reticulum transmembrane protein involved in vesicle transport, but unclear to which part of the process
Q9UHD9 Ubiquilin-2Involved in regulation of protein degradation pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD).
Q9UMX0 Ubiquilin-1Involved in regulation of protein degradation pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD).

Function and Clinical Significance

Although the function of SMIM19 is relatively unclear, there are many links of SMIM19 to a large deletion, up to 9 genes sequentially in chromosome 8, including a seemingly important neighboring gene, SLC20A2, and including SMIM19 to basal ganglia calcification. [27] [28] [29] [30] Genes in this cytogenetic region, including SMIM19 gene, are also prone to down regulation in common breast tumors and cell lines pertaining to breast cancer. [31] There is also evidence of SMIM19 becoming hypomethylated in hepatocellular carcinoma cells that were enriched with cancer stem cells [32]

Mutations

The SNP results below are based on the output of accession NM_001135674.1 analysis on dbSNP Short Genetic Variation and were selected based on their location in significant portions of the SMIM19 protein. [33] All SNPs chosen are located within the coding sequence. No SNPs were found within the 5’ UTR or 3’ UTR significant portions such as microRNA, so the focus was on the coding sequence. SNPs 1-15 were found as variations of the most conserved amino acids among all orthologs. SNPs 16-2 are found in the transmembrane region of SMIM19.

SMIM19 SELECTED SNPs [33]
#SNPmRNA PositionType of MutationChange Code
1 rs754352830 813SynonymousH19H
2 rs376759514 833MissenseT26I
3 rs1352601365 835MissenseN27D
4 rs758536154 837MissenseN27K
5 rs758536154 837SynonymousN27N
6 rs780265959 843SynonymousY29Y
7 rs745588341 881MissenseY42C
8 rs1254153666 906MissenseI50M
9 rs369873306 912MissenseR52S
10 rs1373469583 927SynonymousP57P
11 rs766437116 979FrameshiftR76S
12 rs1295665189 986NonsenseL77--
13 rs920920699 990SynonymousR78R
14 rs140337330 996SynonymousQ80Q
15 rs1301639242 1018MissenseR88G
16 rs751641872 853MissenseI33F
17 rs1232858855 854FrameshiftI33T
18 rs1168830076 855SynonymousI33I
19 rs749199760 877MissenseM41L
20 rs749199760 877MissenseM41V
21 rs778565419 879MissenseM41I

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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.

<span class="mw-page-title-main">MFSD6L</span> Protein-coding gene in the species Homo sapiens

Major facilitator superfamily domain containing 6 like (MFSD6L) is a protein encoded by the MFSD6L gene in humans. The MFSD6L protein is a transmembrane protein that is part of the major facilitator superfamily (MFS) that uses chemiosmotic gradients to facilitate the transport of small solutes across cell membranes.

<span class="mw-page-title-main">TMEM212</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 212 is a protein that in humans is encoded by the TMEM212 gene. The protein consists of five transmembrane domains and localizes in the plasma membrane and endoplasmic reticulum. TMEM212 has orthologs in vertebrates but not invertebrates. TMEM212 has been associated with sporadic Parkinson's disease, facial processing, and adiposity in African Americans.

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