KIAA1143

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KIAA1143
Identifiers
AliasesKIAA1143
External IDsMGI: 1913452 HomoloGene: 10791 GeneCards: KIAA1143
Orthologs
SpeciesHumanMouse
Entrez

57456

66202

Ensembl

ENSG00000163807
ENSG00000281665

ENSMUSG00000032551

UniProt

Q96AT1

Q8K039

RefSeq (mRNA)

NM_020696
NM_001320334

NM_025419

RefSeq (protein)

NP_001307263
NP_065747

NP_079695

Location (UCSC)Chr 3: 44.74 – 44.76 MbChr 9: 122.77 – 122.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
3D AI generated tertiary structure of the protein KIAA1143 generated by Alpha fold.
Poly clonal Antibody Staining of KIAA1143 Protein in green staining. Micro tubules are counter stained in red. Shows localization to nucleus and cytokinetic bridge.

KIAA1143 is an uncharacterized protein in humans that is encoded by the KIAA1143 gene.[5][6] it may play a role in cell growth mechanisms and regulation/creation of cytoskeletal structure. This gene is located on chromosome 3 on the minus strand

This protein has a function that is not yet objectively understood. KIAA1143 has no alias and has the longest most functional variant named as uncharacterized protein KIAA1143 isoform 1.[7] The mature mRNA transcript is 5079 Base pairs long while the length of the KIAA1143 protein is 154 amino acids. KIAA1143 has another transcript variant called KIAA1143 variant 2, which contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform 2 has a distinct C-terminus and is shorter than isoform 1. The KIAA1143 protein belongs to the uncharacterized protein KIAA1143-like Family, and contains DUF4604 domain of unknown function. KIAA1143 has a predicted function of cell structure/mobility by encoding heavy neurofilament subunits in neurons.[8] Immunohistochemistry staining from Thermo Fisher Scientific shows presence of KIAA1143 in a cytokinetic bridge, which is involved in cellular cytokinesis. This indicates KIAA1143 may have a role in regulation of cellular division and/or communication as well.

Gene

Location

KIAA1143 is found on chromosome 3 on the short arm (3p21) and has 3 exons. KIAA1143 is on the Minus Strand.[9] KIAA1143 is on the sense strand and spans from bases 44,690,802-44,819,561. KIAA1143 is located in the gene neighborhood of Zinc finger protein 502, ZNF501, and KIF15[10]

Transcriptional Regulation

The KIAA1143 was found by using 500 bp of nucleotides upstream using UCSC Genome Browser[9] A number of transcription factors with a matrix similarity greater than or equal to 0.5 that are predicted to regulate transcription of KIAA1143 are listed below with their respective binding site:

Transcription Factor Binding Site Strand
Grainy Head like 2 (GHRL2) (Grainyhead-like gene family) ACAGAAGA +
Zinc Finer Protein 317 (ZNF317) AACCTGTC -
JunD AGTTGACGTCA -
CREM AGTGACGTCAC and GTCACTGCAGT + and -
ATF3 AGTGACGTCAC and GTCACTGCAGT + and -
ATF7 AGTGACGTCAC and GTCACTGCAGT + and -
Jun dimerization protein (JDP2) AGTGACGTCAC and GTCACTGCAGT + and -
FOS::JUN 9(Transcription factor Jun) ACTGCAGT +
ZNF682 CCCCGCACCGG +
KLF13 TGGAACGCC +
Kruppel like factor 16 GCCCGCCAGG +
KLF10 CGGGCGGTCC -
YY2 GGCGGCC +
LIN54 CTTTGAGC -
Expression of KIAA1143 in human tissue samples

Expression

KIAA1143 is expressed in all tissues, however, The expression of KIAA1143 is highest in the Ovaries, followed by the brain, thyroid, prostate, and urinary bladder[11]

KIAA1143 is predicted to have subcellular localization in the nucleus[12] [13]

mRNA

Characteristics of Isoform 1

Isoform 1 of KIAA1143 has a 5' UTR region of 17 base pairs and a 3' UTR region of 4597 base pairs. The transcript is 5079 base pairs long[14]

Additional Primary Sequence and Variants (Isoforms)

KIAA1143 has another uncharacterized isoform 2 which contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform 2 has a distinct C-terminus and is shorter than isoform 1.[15]

Protein

The theoretical molecular weight of the 154amino acid KIAA1143 protein is 17.5kDa and the theoretical pI is 5.84.[12]

Domains, Motifs, and Secondary Structure

Since KIAA1143 is an gene with unknown function, most of the coding gene apart from the promotor and translation start site area is a Domain of unknown function, specifically, DUF4604 Spans amino acids 5-151. KIAA1143 has no Cysteine or tyrosine residues. Cysteine and tyrosine are very good nucleophiles, since they are not present, this gives some light into the possible electrophilic nature of the active site. KIAA1143 has some important Eukaryotic Linear Motif resource (ELM) Domains which give insight into its function. These ELM domains are LIG_BIR_II_1 from amino acids 1-5 and LIG_WRC_WIRS_1 from amino acids 144-149. These domains have importance in apoptotic regulation and actin cytoskeleton rearrangement mechanisms respectively[16][17]

From Positions 1-10 there is also something called a BIG1 Big-1 (bacterial Ig-like domain 1) domain. Big-1 proteins are surface-expressed proteins that mediate mammalian host cell invasion or attachment. The tandem of Ig-like domains appears to form a rod to link the bacterial outer membrane anchor to the C-terminal lectin-like domain to interact with their receptors in the host cell membrane[18]

Post-Translational Modifications

KIAA1143 is shown to be phosphorylated at positions 2, 50, 68, 113, 115, 116 at either serine or threonine residues. There is a sumoylation consensus at position 76, as well as O-GlcNAc attachment at position 8. There is also an N-myristoylation site from 111-116[19][20][21]

KIAA1143 Protein Isoform 1 significant ELM motifs, and important post translational modifications
KIAA1143 iTASSER tertiary structure predictive modeling

Tertiary Structures

The KIAA1143 Tertiary structure is predicted below through iTASSER modeling, with a C score of -2.83. Coloring is similar to alphafold confidence graphing[22]

Protein Interactions

KIAA1143 is experimentally determined to have interactions with EAPP (E2F-associated phosphoprotein), ECD (Ecdysoneless Cell Cycle Regulator), GPATCH1 (Evolutionarily Conserved G-Patch Domain-Containing Protein), PRPF8 (Pre-MRNA-Processing-Splicing Factor 8), WDR83 (Mitogen-Activated Protein Kinase Organizer 1), CEP76 (centrosomal protein 76), and APP (Amyloid-beta precursor protein).

Homology and Evolution

Paralogs

There are no paralogs for KIAA1143

Orthologs

KIAA1143 has homologs in over 200 other organisms, including vertebrates, invertebrates, archaea, KIAA1143 is found in clades of organisms except land plants.

Genus species Common Name Taxonomic Group Divergence (MYA) Accession Number Seq. Length (aa) Corr. ID to HP (%) Corr. Sim. To HP (%)
Homo sapiens Human primates 0 NP_065747.1 154 100 100
Mus musculus House Mouse Rodentia 87 NP_079695.2 154 87 93
Pogona vitticeps Central Bearded Dragon Reptilla 319 XP_020663315.1 152 72 84
Sphaerodactylus townsendi townsend's least gecko Reptilla 319 XP_048366794.1 154 68 81
Zootoca vivipara Common Lizzard Reptila 319 XP_034985594.1 153 64 77
Python bivittatus burmese python Reptilla 319 XP_007437594.1 151 64 77
Nothoprocta perdicaria chilean tinamou Aves 319 XP_025890652.1 159 63 73
Oxyura jamaicensis Ruddy Duck Aves 319 XP_035173671.1 159 54 71
Aptenodytes forsteri Emperor Penguin Aves 319 XP_019330441.1 159 53 68
Catharus ustulatus Swainson's thrush Aves 319 XP_032933984.1 175 53 66
Rhinatrema bivittatum two-lined caecilian (Gymnophiona) 353 XP_029445556.1 156 58 76
Geotrypetes seraphini gaboon caecilian (Gymnophiona) 353 XP_033786333.1 156 58 78
Rana temporaria Common frog (anura) 353 XP_040209069.1 152 58 75
Bufo Bufo Common Toad Amphibia (anura) 353 XP_040287819.1 153 57 74
Latimeria Chalumnae West Indian Ocean coelacanth Sarcoptergyii (lobe-finned fish) 414 XP_005999062.1 151 46 63
Gambusia affinis mosquitofish Cyprinodontiformes (ray-finned fish) 431 XP_043973326.1 160 48 63
Clupea harengus Atlantic Herring Clupeiformes (ray-finned fish) 431 XP_012692935.2 154 47 68
Scyliorhinus canicula Small Spotted catshark Carcharhiniformes (cartilagenous fish) 464 XP_038652524.1 152 58 79
Amblyraja radiata Thorny skate Elasmobranchii (cartilagenous fish) 464 XP_032871011.1 153 50 68
Petromyzon marinus sea lamprey Agnatha (jawless fish) 599 XP_032833525.1 178 49 67

The relative rate of change for KIAA1143 is fairly slow compared to fibrinogen and beta-globin, but not as slow as cytochrome c.

KIAA1143s mutation rate compared to fibrinogen, beta-globin, and cytochrome c.

Homologus Domains

The DUF4604 domain in KIAA1143 is conserved across all organisms

Phylogeny

All of the orthologs of KIAA1143 are derived from the same common ancestor

Clinical Significance

Pathology

No diseases have been shown to be directly linked to KIAA1143 to this date.

Disease Association

No Disease Association is observed with KIAA1143 to date.

References

  1. ^ a b c ENSG00000281665 GRCh38: Ensembl release 89: ENSG00000163807, ENSG00000281665 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032551 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  6. ^ Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, et al. (June 2011). "Next-generation sequencing to generate interactome datasets". Nature Methods. 8 (6): 478–480. doi:10.1038/nmeth.1597. PMC 3188388. PMID 21516116.
  7. ^ "KIAA1143 [ Homo sapiens (human) ]". National Center For Biotechnology Information. Retrieved 18 September 2022.
  8. ^ "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain [ Homo sapiens (human) ]". Oxford Academy. Retrieved 7 December 2022.
  9. ^ a b "KIAA1143 information on Gene Cards". Gene Cards. Retrieved 13 December 2022.
  10. ^ "KIAA1143 BLAT Browsing". USCS Genome Browser. Retrieved 13 December 2022.
  11. ^ "HPA RNA-seq of KIAA1143 to determine tissue specificity". Retrieved 13 December 2022.
  12. ^ a b "Compositional analysis of KIAA1143 using SAPS tool". Retrieved 13 December 2022.
  13. ^ "KIAA1143 PSORT II for various orthologs". Retrieved 13 December 2022.[permanent dead link]
  14. ^ "NCBI (National Center for Biotechnology Information) entry on Homo Sapiens KIAA1143 transcript variant 1, mRNA". June 2022. Retrieved 13 December 2022.
  15. ^ "KIAA1143 Gene Entry on NCBI". Retrieved 13 December 2022.
  16. ^ "ELM - Detail for LIG_BIR_II_1". ELM The Eukaryotic Linear Motif resource for Functional Sites in Proteins. Retrieved 16 December 2022.
  17. ^ "The Eukaryotic Linear Motif resource for Functional Sites in Proteins". Retrieved 16 December 2022.
  18. ^ "InterPro". Big-1 (bacterial Ig-like domain 1) domain Interpro Entry. Retrieved 16 December 2022.
  19. ^ "GPS SUMO for KIAA1143". Retrieved 16 December 2022.[permanent dead link]
  20. ^ "YinOYang Analysis". Retrieved 16 December 2022.
  21. ^ "Myhits Motif scan". Retrieved 16 December 2022.
  22. ^ "KIAA1143 iTASSER modeling". Retrieved 16 December 2022.
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