KIAA1704

Last updated
GPALPP1
Identifiers
Aliases GPALPP1 , KIAA1704, LSR7, bA245H20.2, AD029, GPALPP motifs containing 1
External IDs MGI: 1914717 HomoloGene: 10234 GeneCards: GPALPP1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018559
NM_001316951
NM_001316952

NM_026177

RefSeq (protein)

NP_001303880
NP_001303881
NP_061029

NP_080453

Location (UCSC) Chr 13: 44.99 – 45.04 Mb Chr 14: 76.32 – 76.35 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

KIAA1704, also known as LSR7 (lipopolysaccharide-specific response protein 7), is a protein that in humans is encoded by the GPALPP1 (GPALPP motifs containing 1) gene. The function of KIAA1704 is not yet well understood. KIAA1704 contains one domain of unknown function, DUF3752. The protein contains a conserved, uncharged, repeated motif GPALPP(GF) near the N terminus and an unusual, conserved, mixed charge throughout (alternating readily between positive and negative charges). [5] It is predicted to be localized to the nucleus. [6]

Contents

Clinical significance

KIAA1704 has at least a 5 fold expression loss associated with mantle cell lymphoma. [7]

In a second study, researchers used a linkage disequilibrium mapping study of locus 13q13-14 to investigate potential susceptibility for autism over a 1.5 Mb linkage peak, including KIAA1704. A single marker PDTPhase analysis was performed for four SNPs for KIAA1704; however, none of the SNPs were statistically significant in associating the marker with the loci. [8]

An expression study found that KIAA1704 is significantly up-regulated in U937 cells (macrophage-like human cell line) when treated with nicotine. [9]

Properties

Number of Exons [10] mRNA sequence length (bp) [10] Protein sequence length (aa) [10] Molecular Weight (kD) [6] Isoelectric point [6]
8143134038.15.0526

Gene

Location

KIAA1704 is found on the chromosome 13, at locus q14.12, with the genomic sequence starting at 45,563,687 bp and ending at 45,602,405 bp. [10]

KIAA1704 chromosomal location Chromosomal Location.png
KIAA1704 chromosomal location

Gene Neighborhood

KIAA1704GeneNeighborhood KIAA1704GeneNeighborhood.png
KIAA1704GeneNeighborhood

KIAA1704 is located on the positive strand surrounded by 5 nearby genes.

Positive Orientation

Negative Orientation

Expression

KIAA1704 has ubiquitous low to moderate expression patterns across body tissues (below 50%) [12]

NCBI GDS596 Microarray Expression Data KIAA1704 Microarray Expression Profile.png
NCBI GDS596 Microarray Expression Data

Promoter

KIAA1704 Promoter Prediction KIAA1704 Promoter Prediction.png
KIAA1704 Promoter Prediction

Using GenoMatix ElDorado analysis tools, the promoter was predicted to be 727 base pairs in length projecting into exon 1. There are two predicted transcriptional start sites for this promoter, shown on the adjacent image. [13]

KIAA1704 promoter showed significant histone 3 lysine 4 trimethylation peaks in K562 cells (erythroid cell line). It also showed increased relative expression in erythroid progenitors along with gene neighbors, NUFIP1 and TPT1. [14]

An additional study found that the proximal promoter is one of many thousand direct targets of transcription factor, Myc, in vivo. [15]

mRNA

Splice Variants

According to Ensembl, there are four coding splice variants. None of the alternative splice forms have experimental evidence associated. One splice variant undergoes non-sense mediated decay while another is predicted to splice the gene directly in half and retain amino acids 171–340. [16]

Conservation

NCBI BLAST searches reveal that known mRNA orthologs exist in mammals, reptiles, birds, frogs, and fish with at least 65% sequence identity. [17]

Protein

General Properties

KIAA1704 Annotated Schematic Protein KIAA1704 Annotated Schematic Protein.png
KIAA1704 Annotated Schematic Protein

Composition

Shown in the table below, KIAA1704 has significantly higher percentages of charged amino acids (D, K, KR, KRED) than the normal human protein and is mostly conserved within its orthologous proteins. [5]

Compositional AnalysisAmino Acid (AA) Abundance H. sapiens AA Abundance Mus musculus AA Abundance Gallus gallus AA Abundance Xenopus tropicales
D++42 (12.4%)37 (10.7%)35 (10%)33 (9.8%)
V--6 (1.8%)9 (2.6%)9 (2.6%)-----
K+37 (10.9%)37 (10.7%)----------
L-17 (5.0%)17 (4.9%)19 (5.4%)-----
KR+62 (18.2%)62 (17.9%)60 (17.1%)56 (16.6%)
KRED++134 (39.4%)135 (39.0%)135 (38.6%)122 (36.1%)
ED+72 (21.2%)73 (21.1%)75 (21.4%)66 (19.5%)
LVIFM-54 (15.9%)59 (17.1%)58 (16.6%)57 (16.9%)

Conservation

KIAA1704 has protein orthologs extending through plants, shown in descending order of identity in the table below. Mammals have the highest level of conservation with 89 percent identity followed by birds, frogs, fish, invertebrates, insects, and plants. [17]

Genus and Species Common name Accession NumberSequence Length (aa)Sequence Identity to Human protein (%)Sequence Similarity to Human Protein (%)Evolutionary Time to Human Divergence (Million years)
Homo sapiens Human NP_061029.2 3401001000
Pan troglodytes Chimpanzee XP_509661.2 340991006.4
Macaca mulatta Rhesus monkey XP_001094145 344979829.2
Loxodonta africana African savanna elephant XP_003412655 341959898.8
Sus scrofa Wild boar XP_001924228 346899592.4
Mus musculus Mouse NP_080453.2 346899394.4
Gallus gallus Chicken NP_001006270 3506778371.2
Taeniopygia guttata Zebra finch XP_002198724 3427081400.1
Xenopus tropicales Western clawed frog NP_001072786 3386274400.1
Xenopus laevis African clawed frog NP_001089474 3376174661.2
Danio rerio Zebrafish NP_001003473 4054961782.7
Saccoglossus kowalevskii Acorn worm XP_002738946 35043601369
Culex quinquefasciatus Southern house mosquito XP_001847636.1 3354157782.7
Drosophila ananassae Fruit fly XP_001954135 34834501215.8
Glycine max Soybean XP_003556198 56932511369
Puccinia graminis Stem rust XP_003328471 34629461215.8

Conserved domains

Concerning conserved domains, thus far, there does not appear to be much information about conserved motif, GPALPP(GF). This motif represents the neutral segments in this highly charged protein.

DUF3752 is generally found in Eukaryotes and is between 140 and 163 amino acids in length. It belongs to pfam12572, member of superfamily cl13947 [18]

KIAA1704 Annotated Charge Multiple Sequence Alignment KIAA1704 Annotated Charge Multiple Sequence Alignment.pdf
KIAA1704 Annotated Charge Multiple Sequence Alignment
Conserved Region H. sapiens Amino Acid SiteCharge (Acidic, Basic, Neutral)
Poly-serine 41-49Neutral
Poly-aspartic Acid 81-88Acidic
GPALPP(GF)7–14; 32–37; 92–99; 112-119Neutral
IIGP110–113; 146-149Neutral
DUF3752196-333Basic (pI=10.51)

Information provided by Statistical Analysis of Proteins (SAPS) tool. [5]

Post Translation Modifications

KIAA1704 is predicted by ExPASy tools to undergo several conserved post translational modifications including glycation, o-linked glycosylation, serine phosphorylation, threonine phosphorylation, and several kinase specific phosphorylation (PKC, PKA, and CKII). [6]

Secondary Structure

There are four conserved predicted alpha helices located towards the C terminus of the protein. The N terminus is predicted to be dominated by coiled regions. [19]

Subcellular Localization

ExPASy PSORT predicts 74% chance of being localized to the nucleus. [6]

Related Research Articles

<span class="mw-page-title-main">KIAA1109</span> Protein-coding gene in the species Homo sapiens

Uncharacterized protein KIAA1109 is a protein that in humans is encoded by the KIAA1109 gene.

<span class="mw-page-title-main">Transmembrane protein 53</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">KIAA0895L</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Morn repeat containing 1</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">KIAA0895</span> Protein-coding gene in the species Homo sapiens

KIAA0895 is a protein that in Homo sapiens is encoded by the KIAA0895 gene. The gene encodes a protein commonly known as the KIAA0895 protein. It's aliases include hypothetical protein LOC23366, OTTHUMP00000206979, OTTHUMP00000206980, 9530077C05Rik, and 1110003N12Rik. It is located at 7p14.2.

<span class="mw-page-title-main">PBDC1</span> Human gene

CXorf26, also known as MGC874, is a well conserved human gene found on the plus strand of the short arm of the X chromosome. The exact function of the gene is poorly understood, but the polysaccharide biosynthesis domain that spans a major portion of the protein product, as well as the yeast homolog, YPL225, offer insights into its possible function.

<span class="mw-page-title-main">OSER1</span> Protein-coding gene in the species Homo sapiens

Chromosome 20 open reading frame 111, or C20orf111, is the hypothetical protein that in humans is encoded by the C20orf111 gene. C20orf111 is also known as Perit1, HSPC207, and dJ1183I21.1. It was originally located using genomic sequencing of chromosome 20. The National Center for Biotechnology Information, or NCBI, shows that it is located at q13.11 on chromosome 20, however the genome browser at the University of California-Santa Cruz (UCSC) website shows that it is at location q13.12, and within a million base pairs of the adenosine deaminase locus. It was also found to have an increase in expression in cells undergoing hydrogen peroxide(H
2
O
2
)-induced apoptosis. After analyzing the amino acid content of C20orf111, it was found to be rich in serine residues.

<span class="mw-page-title-main">KIAA0922</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 131-like, alternatively named uncharacterized protein KIAA0922, is an integral transmembrane protein encoded by the human gene KIAA0922 that is significantly conserved in eukaryotes, at least through protists. Although the function of this gene is not yet fully elucidated, initial microarray evidence suggests that it may be involved in immune responses. Furthermore, its paralog, prolyl endopeptidase (PREP) whose function is known, provides clues as to the function of TMEM131L.

<span class="mw-page-title-main">ARMH3</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Coiled-coil domain containing protein 120</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">FAM214A</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TM6SF2</span> Protein-coding gene in the species Homo sapiens

TM6SF2 is the Transmembrane 6 superfamily 2 human gene which codes for a protein by the same name. This gene is otherwise called KIAA1926. Its exact function is currently unknown.

<span class="mw-page-title-main">CCDC47</span> Protein-coding gene in the species Homo sapiens

Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the protein CCDC47. The gene has several aliases including GK001 and MSTP041. The protein itself contains coiled-coil domains, the SEEEED superfamily, a domain of unknown function (DUF1682) and a transmembrane domain. The function of the protein is unknown, but it has been proposed that CCDC47 is involved in calcium ion homeostasis and the endoplasmic reticulum overload response.

<span class="mw-page-title-main">Proser2</span> Protein-coding gene in the species Homo sapiens

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An Error has occurred retrieving Wikidata item for infobox CRACD-like protein. previously known as KIAA1211L is a protein that in humans is encoded by the CRACDL gene. It is highly expressed in the cerebral cortex of the brain. Furthermore, it is localized to the microtubules and the centrosomes and is subcellularly located in the nucleus. Finally, CRACDL is associated with certain mental disorders and various cancers.

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

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<span class="mw-page-title-main">C22orf31</span> Protein-coding gene in the species Homo sapiens

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Transmembrane protein 39B (TMEM39B) is a protein that in humans is encoded by the gene TMEM39B. TMEM39B is a multi-pass membrane protein with eight transmembrane domains. The protein localizes to the plasma membrane and vesicles. The precise function of TMEM39B is not yet well-understood by the scientific community, but differential expression is associated with survival of B cell lymphoma, and knockdown of TMEM39B is associated with decreased autophagy in cells infected with the Sindbis virus. Furthermore, the TMEM39B protein been found to interact with the SARS-CoV-2 ORF9C protein. TMEM39B is expressed at moderate levels in most tissues, with higher expression in the testis, placenta, white blood cells, adrenal gland, thymus, and fetal brain.

<span class="mw-page-title-main">FAM98C</span> Gene

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.

<span class="mw-page-title-main">KIAA2013</span> Protein-coding gene in the species Homo sapiens

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