Tetratricopeptide repeat 39A

Last updated
TTC39A
Identifiers
Aliases TTC39A , C1orf34, DEME-6, Tetratricopeptide Repeat 39A, tetratricopeptide repeat domain 39A
External IDs MGI: 2444350 HomoloGene: 17739 GeneCards: TTC39A
Orthologs
SpeciesHumanMouse
Entrez

22996

230603

Ensembl

ENSG00000085831

ENSMUSG00000028555

UniProt

Q5SRH9

A2ACP1

RefSeq (mRNA)

NM_001145948
NM_153392

RefSeq (protein)

NP_001139420
NP_700441

Location (UCSC) Chr 1: 51.29 – 51.35 Mb Chr 4: 109.26 – 109.3 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Tetratricopeptide repeat 39A is a human protein encoded by the TTC39A gene. [5] TTC39A is also known as DEME-6 (differentially expressed in MCF7 with estradiol protein 6), KIAA0452, and c1orf34. [5] The function of TTC39A is currently not well understood. The main feature within tetratricopeptide repeat 39A is the domain of unknown function 3808 (DUF3808), spanning almost the entire protein. [6] KIAA0452 can also be seen as an isoform of TTC39A because of differences in genome sequence, but overlap in DUF domain. [7]

Contents

Gene

The location of TTC39A at 1p.32.3 The location of TTC39A on chromosome 1p.32.3.png
The location of TTC39A at 1p.32.3

The gene for TTC39A is located on the first chromosome at 1p32.3. [5] The genomic DNA is 57,859 bases long, consists of 19 exons and is located on the minus strand. [8] The mRNA has a length of 2759 bases. [8] TTC39A is surrounded by genes for RNF11 and EPS15. [6] Neither of these genes have a known interaction or similar function as TTC39A. [6] There are not any known medical disorders resulting from the deletion of TTC39A. [6]

The gene for KIAA0452 is also located on the first chromosome at 1p32.3. The genomic DNA is 34,096 bases long, consists of 11 exons and is located on the minus strand. [9] The mRNA has a length of 6256 bases. [10]

Homology

TTC39A has several orthologs that have been found in eukaryotes, archea, and bacteria. [8] Two paralogs, TTC39B and TTC39C, have also been identified. [8] The functions of TTC39B and TTC39C are not known. [8]

SpeciesCommon nameAccession numberLengthProtein identityProtein similarity
Homo sapiens Human NP_001073963.1 613aa100%100%
Mus musculus Mouse NP_001139420.1 578aa87.9%91.0%
Macaca mulatta Rhesus monkey XP_002801613.1 550aa92.0%93.0%
Gallus gallus Chicken XP_422466.3 575aa71.3%81.0%
Taeniopygia guttata Zebra finch XP_002193183 575aa73.0%82.0%
Anolis carolinensis Green anole XP_003216860.1 570aa58.8%74.0%
Danio rerio Zebra fish XP_002663143.1 598aa60.8%76.0%
Branchiostoma floridae Lancelet XP_002591442.1 544aa41.1%61.0%
Physcomitrella patens Moss XP_001766901.1 601aa24.2%41.0%
Leishmania braziliensis Euglenozoa XP_001566995.1 584aa21.8%40.0%
Aster yellows Phytoplasma AAO61940.1 299aa15.1%42.0%

KIAA0452 has several similar orthologs as TTC39A from eukaryotes, achea and bacteria but different protein identities and similarities. [9]

SpeciesCommon nameAccession numberLengthProtein identityProtein similarity
Homo sapiensHuman AB007921 453aa100%100%
Homo sapiensHuman BC028374.2 629aa99%99%
Mus musculusMouse AK172951.1 574aa85%87%
Macaca mulattaRhesus monkeyXP_002801613550aa88%88%
Taeniopygia gutlataZebra finchXP_002193183.2549aa72%79%
Anolis carolinensisGreen anoleXP_003216860.1570aa56%69%
Danio rerioZebra fishXP_002663143598aa60%71%
Branchiostoma floridaeLancletXP_002591442.1544aa42%62%
Physcomitrella patensMossXP_001766901.1601aa25%41%
Leishmania braziliensisEuglenozaXP_001566995.1584aa28%48%
Aster yellowsPhytoplasmaAAO61940.1299aa24%42%

mRNA features

Promoter

The predicted promoter for the TTC39A gene spans 713 bp from 51,796,048 to 51,796,760. [11]

A predicted promoter for KIAA0452 gene spans 600 bp from 51,796,517 to 51,797,117. [11]

Transcription factors

Below are some of transcription factors that exist for the predicted the promoter sequence. [11]

Detailed family informationStartEndStrand
Myeloid zinc finger protein MZF1286296+
Fork head domain factors FOXK25470-
X-linked zinc finger protein ZFX and ZFY118128-
E2F transcription factor 4, p107/p130-binding protein475491-
SPI-1 proto-oncogene; hematopoietic transcription factor PU.1205225+
Hematopoietically expressed homeobox, proline-rich homeodomain protein108126+

Below are some of transcription factors, with similarity of 1, that exist for the predicted promoter sequence. [11] [12]

Detailed family informationStartEndStrand
AP1 activating protein 12234+
Myeloid Zinc finger protein MZF1577587+
Myeloid transforming protein EVI1

(Ectotropic viral integration site 1 encoded factor, amino-terminal zinc finger domain)

1632+
C2H2 xinc finger transcription factor 2539561-
Fork Head domain factor alternative splice variant of FOXP1 (activated in ESCs)410426-
Pleomorphic adenoma gene 1209231+

Protein

Protein features including the location of DUF3808, TPR_16, and the circled predicted transmembrane domain The protein features of TTC39A, including the predicted transmembrane domain circled in red.png
Protein features including the location of DUF3808, TPR_16, and the circled predicted transmembrane domain

The longest protein sequence consists of 613 amino acids. [13] Within TTC39A, there is a domain of unknown function, DUF 3808. [13] DUF 3808 is generally considered to be an outer mitochondrial membrane protein and has been conserved from fungi to humans. [13] DUF 3808 also contains a tetratricopeptide, TPR_16 and a predicted transmembrane domain. [13] [14] The structure of TTC39A is predicted to have 12 alpha helices and a single beta sheet. [15]

KIAA0452 has a protein sequence with 453 amino acids. [16] The structure of KIAA0452 is predicted to have 11 alpha helices and 9 beta sheets. [15] KIAA0452 overlaps TTC39A via a domain of unknown function, DUF 3808. [13] KIAA0452 has a predicted molecular weight of 49.4 kdal [17] and an isoelectric point of 6.766000. [18]

Expression

The expression levels of TTC39A found throughout the human body Expression levels of TTC39A.png
The expression levels of TTC39A found throughout the human body

There are 17 splice variants for TTC39A. [19] TTC39A is a highly expressed protein in the human body. [19] The highest levels of expression are located in mammary glands and testis. [13] The lowest levels of expression are found in the immune system. [13]

KIAA0452 expression is most prevalent in the brain, with the highest levels in the trigeminal ganglion and occipital lobe [20]

TTC39A is induced by TFAP2C in hormone responsive breast carcinoma cells [21] and TTC39A is expressed in estrogen receptor positive carcinoma cell lines. [22]

Post translational modifications

There are several predicted phosphorylation sites but none have been experimentally confirmed. [23] A single sulfination site is predicted at position 175. [24]

KIAA0452 has a single N-acetalation site at position 274. [25]

Interactions

TTC39A has been found to interact with BTNL2 [26] and MAPK3. [27]

Related Research Articles

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<span class="mw-page-title-main">Tetratricopeptide repeat protein 39C</span> Protein-coding gene in the species Homo sapiens

Tetratricopeptide repeat protein 39C is a protein that in humans is encoded by the TTC39C gene. TTC39C is one of three TTC39. Its function is currently unknown; however, there is some evidence suggesting that it plays a role in anaphase. It also contains a relatively well-characterized structural motif called the tetratricopeptide repeat (TPR).

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

Protein FAM214A, also known as protein family with sequence similarity 214, A (FAM214A) is a protein that, in humans, is encoded by the FAM214A gene. FAM214A is a gene with unknown function found at the q21.2-q21.3 locus on Chromosome 15 (human). The protein product of this gene has two conserved domains, one of unknown function (DUF4210) and another one called Chromosome_Seg. Although the function of the FAM214A protein is uncharacterized, both DUF4210 and Chromosome_Seg have been predicted to play a role in chromosome segregation during meiosis.

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<span class="mw-page-title-main">FAM149A</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">CFAP206</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">KIAA1841</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">FAM63A</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">PRR29</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">ERICH2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C2orf73</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C8orf58</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C19orf44</span> Mammalian protein found in Homo sapiens

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000085831 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028555 - 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. 1 2 3 HUGO Gene Nomenclature Committee. "TTC39A". Gene Symbol Report. Human Genome Organisation.[ permanent dead link ]
  6. 1 2 3 4 "National Center of Biotechnology Information".
  7. ↑ "UCSC Genome Browser Aceview".
  8. 1 2 3 4 5 "TTC39A Gene". GeneCards Human Gene Database. Weizmann Institute of Science.
  9. 1 2 "Gene/Protein Characteristic Table for KIAA0452".
  10. ↑ "National Center of Biotechnology Information". 25 July 2016.
  11. 1 2 3 4 "Gene2Promoter". Genomatix.[ permanent dead link ]
  12. ↑ "GemsLauncher". Genomatrix. Archived from the original on 2021-12-01. Retrieved 2013-05-13.
  13. 1 2 3 4 5 6 7 "TTC39A tetratricopeptide repeat domain 39A [Homo sapiens]". NCBI Gene Report. National Center for Biotechnology Information.
  14. ↑ "San Diego Biology Workbench". Predicted transmembrane domains.[ permanent dead link ]
  15. 1 2 "San Diego Supercomputer Biology Workbench Pele".
  16. ↑ "KIAA0452 protein [Homo sapiens]".
  17. ↑ "San Diego Biology Workbench SAPs".[ permanent dead link ]
  18. ↑ "San Diego Biology Workbench PI".[ permanent dead link ]
  19. 1 2 "Aceview".
  20. ↑ "Large-scale analysis of the human transcriptome (HG-U133A".
  21. ↑ Woodfield GW, Chen Y, Bair TB, Domann FE, Weigel RJ (October 2010). "Identification of primary gene targets of TFAP2C in hormone responsive breast carcinoma cells". Genes Chromosomes Cancer. 49 (10): 948–62. doi:10.1002/gcc.20807. PMC   2928401 . PMID   20629094.
  22. ↑ Kuang WW, Thompson DA, Hoch RV, Weigel RJ (February 1998). "Differential screening and suppression subtractive hybridization identified genes differentially expressed in an estrogen receptor-positive breast carcinoma cell line". Nucleic Acids Res. 26 (4): 1116–23. doi:10.1093/nar/26.4.1116. PMC   147366 . PMID   9461476.
  23. ↑ "Netphos".
  24. ↑ "Expasy Sulfinator".
  25. ↑ "Expasy NetAcet".
  26. ↑ "TTC39A". STRING: functional protein association networks.[ permanent dead link ]
  27. ↑ von Kriegsheim A, Baiocchi D, Birtwistle M, Sumpton D, Bienvenut W, Morrice N, Yamada K, Lamond A, Kalna G, Orton R, Gilbert D, Kolch W (December 2009). "Cell fate decisions are specified by the dynamic ERK interactome". Nat. Cell Biol. 11 (12): 1458–64. doi:10.1038/ncb1994. PMC   3839079 . PMID   19935650.
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