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词条 Tetratricopeptide repeat 39A
释义

  1. Gene

      Homology  

  2. mRNA features

      Promoter    Transcription factors  

  3. Protein

      Expression    Post translational modifications  

  4. Interactions

  5. References

{{Infobox_gene}}Tetratricopeptide repeat 39A is a human protein encoded by the TTC39A gene.[1] TTC39A is also known as DEME-6 (differentially expressed in MCF7 with estradiol protein 6), KIAA0452, and c1orf34.[1] 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.[2] KIAA0452 can also be seen as an isoform of TTC39A because of differences in genome sequence, but overlap in DUF domain.[3]

Gene

The gene for TTC39A is located on the first chromosome at 1p32.3.[1] The genomic DNA is 57,859 bases long, consists of 19 exons and is located on the minus strand.[4] The mRNA has a length of 2759 bases.[4] TTC39A is surrounded by genes for RNF11 and EPS15.[2] Neither of these genes have a known interaction or similar function as TTC39A.[2] There are not any known medical disorders resulting from the deletion of TTC39A.[2]

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.[5] The mRNA has a length of 6256 bases.[6]

Homology

TTC39A has several orthologs that have been found in eukaryotes, archea, and bacteria.[4] Two paralogs, TTC39B and TTC39C, have also been identified.[4] The functions of TTC39B and TTC39C are not known.[4]

Species Common name Accession number Length Protein identity Protein similarity
Homo sapiens Human [https://www.ncbi.nlm.nih.gov/protein/NP_001073963.1 NP_001073963.1] 613aa 100% 100%
Mus musculus Mouse [https://www.ncbi.nlm.nih.gov/protein/NP_001139420.1 NP_001139420.1] 578aa 87.9% 91.0%
Macaca mulatta Rhesus monkey [https://www.ncbi.nlm.nih.gov/protein/XP_002801613.1 XP_002801613.1] 550aa 92.0% 93.0%
Gallus gallus Chicken [https://www.ncbi.nlm.nih.gov/protein/XP_422466.3 XP_422466.3] 575aa 71.3% 81.0%
Taeniopygia guttata Zebra finch [https://www.ncbi.nlm.nih.gov/protein/XP_002193183 XP_002193183] 575aa 73.0% 82.0%
Anolis carolinensis Green anole [https://www.ncbi.nlm.nih.gov/protein/XP_003216860.1 XP_003216860.1] 570aa 58.8% 74.0%
Danio rerio Zebra fish [https://www.ncbi.nlm.nih.gov/protein/XP_002663143.1 XP_002663143.1] 598aa 60.8% 76.0%
Branchiostoma floridae Lancelet [https://www.ncbi.nlm.nih.gov/protein/XP_002591442.1 XP_002591442.1] 544aa 41.1% 61.0%
Physcomitrella patens Moss [https://www.ncbi.nlm.nih.gov/protein/XP_001766901.1 XP_001766901.1] 601aa 24.2% 41.0%
Leishmania braziliensis Euglenozoa [https://www.ncbi.nlm.nih.gov/protein/XP_001566995.1 XP_001566995.1] 584aa 21.8% 40.0%
Aster yellows Phytoplasma [https://www.ncbi.nlm.nih.gov/protein/AAO61940.1 AAO61940.1] 299aa 15.1% 42.0%

KIAA0452 has several similar orthologs as TTC39A from eukaryotes, achea and bacteria but different protein identities and similarities.[5]

Species Common name Accession number Length Protein identity Protein similarity
Homo sapiens Human [https://www.ncbi.nlm.nih.gov/nuccore/AB007921.1 AB007921] 453aa 100% 100%
Homo sapiens Human [https://www.ncbi.nlm.nih.gov/nuccore/BC028374.2 BC028374.2] 629aa 99% 99%
Mus musculus Mouse [https://www.ncbi.nlm.nih.gov/nucleotide/50510486?report=genbank&log$=nuclalign&blast_rank=5&RID=T0V3VBG701R AK172951.1] 574aa 85% 87%
Macaca mulatta Rhesus monkey XP_002801613 550aa 88% 88%
Taeniopygia gutlata Zebra finch XP_002193183.2 549aa 72% 79%
Anolis carolinensis Green anole XP_003216860.1 570aa 56% 69%
Danio rerio Zebra fish XP_002663143 598aa 60% 71%
Branchiostoma floridae Lanclet XP_002591442.1 544aa 42% 62%
Physcomitrella patens Moss XP_001766901.1 601aa 25% 41%
Leishmania braziliensis Euglenoza XP_001566995.1 584aa 28% 48%
Aster yellows Phytoplasma AAO61940.1 299aa 24% 42%

mRNA features

Promoter

The predicted promoter for the TTC39A gene spans 713 bp from 51,796,048 to 51,796,760.[7]

A predicted promoter for KIAA0452 gene spans 600 bp from 51,796,517 to 51,797,117.[7]

Transcription factors

Below are some of transcription factors that exist for the predicted the promoter sequence.[7]

Detailed family information Start End Strand
Myeloid zinc finger protein MZF1 286 296 +
Fork head domain factors FOXK2 54 70 -
X-linked zinc finger protein ZFX and ZFY 118 128 -
E2F transcription factor 4, p107/p130-binding protein 475 491 -
SPI-1 proto-oncogene; hematopoietic transcription factor PU.1 205 225 +
Hematopoietically expressed homeobox, proline-rich homeodomain protein 108 126 +

Below are some of transcription factors, with similarity of 1, that exist for the predicted promoter sequence.[7][8]

Detailed family information Start End Strand
AP1 activating protein 1 22 34 +
Myeloid Zinc finger protein MZF1 577 587 +
Myeloid transforming protein EVI1

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

16 32 +
C2H2 xinc finger transcription factor 2 539 561 -
Fork Head domain factor alternative splice variant of FOXP1 (activated in ESCs) 410 426 -
Pleomorphic adenoma gene 1 209 231 +

Protein

The longest protein sequence consists of 613 amino acids.[9] Within TTC39A, there is a domain of unknown function, DUF 3808.[9] DUF 3808 is generally considered to be an outer mitochondrial membrane protein and has been conserved from fungi to humans.[9] DUF 3808 also contains a tetratricopeptide, TPR_16 and a predicted transmembrane domain.[9][10] The structure of TTC39A is predicted to have 12 alpha helices and a single beta sheet.[11]

KIAA0452 has a protein sequence with 453 amino acids.[12] The structure of KIAA0452 is predicted to have 11 alpha helices and 9 beta sheets.[11] KIAA0452 overlaps TTC39A via a domain of unknown function, DUF 3808.[9] KIAA0452 has a predicted molecular weight of 49.4 kdal [13] and an isoelectric point of 6.766000.[14]

Expression

There are 17 splice variants for TTC39A.[15] TTC39A is a highly expressed protein in the human body.[15] The highest levels of expression are located in mammary glands and testis.[9] The lowest levels of expression are found in the immune system.[9]

KIAA0452 expression is most prevalent in the brain, with the highest levels in the trigeminal ganglion and occipital lobe[16]

TTC39A is induced by TFAP2C in hormone responsive breast carcinoma cells[17] and TTC39A is expressed in estrogen receptor positive carcinoma cell lines.[18]

Post translational modifications

There are several predicted phosphorylation sites but none have been experimentally confirmed.[19] A single sulfination site is predicted at position 175.[20]

KIAA0452 has a single N-acetalation site at position 274.[21]

Interactions

TTC39A has been found to interact with BTNL2[22] and MAPK3.[23]

References

1. ^1 2 {{cite web | url = https://www.genenames.org/data/hgnc_data.php?hgnc_id=18657 | title = TTC39A | work = Gene Symbol Report | author = HUGO Gene Nomenclature Committee | publisher = Human Genome Organisation }}
2. ^1 2 3 {{cite web|title=National Center of Biotechnology Information|url=https://www.ncbi.nlm.nih.gov/gene/22996}}
3. ^{{cite web|title=UCSC Genome Browser Aceview|url=http://genome.ucsc.edu/cgi-bin/hgTracks}}
4. ^1 2 3 4 {{cite web | url = https://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=22996 | title = TTC39A Gene | work = GeneCards Human Gene Database | publisher = Weizmann Institute of Science }}
5. ^1 {{cite web|title=Gene/Protein Characteristic Table for KIAA0452|url=http://www.kazusa.or.jp/huge/gfpage/KIAA0452/}}
6. ^{{cite web|title=National Center of Biotechnology Information|url=https://www.ncbi.nlm.nih.gov/nuccore/AB007921.1}}
7. ^1 2 3 {{cite web|title=Gene2Promoter|url=http://www.genomatix.de/cgi-bin//c2p/c2p.pl?s=48c838e3e6fcfe685433a3c204bc7e02;TASK=c2p;SHOW=TTC39A.html|work=Genomatix}}
8. ^{{cite web|title=GemsLauncher|url=http://www.genomatix.de/online_help/help_gems/mat_lib_83.html|publisher=Genomatrix}}
9. ^1 2 3 4 5 6 {{cite web | url = https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=22996&rn=1 | title = TTC39A tetratricopeptide repeat domain 39A [Homo sapiens] | work = NCBI Gene Report | publisher = National Center for Biotechnology Information }}
10. ^{{cite web|title=San Diego Biology Workbench|url=http://seqtool.sdsc.edu/CGI/BW.cgi#!|work=Predicted transmembrane domains}}{{Dead link|date=June 2018 |bot=InternetArchiveBot |fix-attempted=no }}
11. ^1 {{cite web|title=San Diego Supercomputer Biology Workbench Pele|url=http://workbench.sdsc.edu/}}
12. ^{{cite web|title=KIAA0452 protein [Homo sapiens]|url=https://www.ncbi.nlm.nih.gov/protein/3413866}}
13. ^{{cite web|title=San Diego Biology Workbench SAPs|url=http://seqtool.sdsc.edu/CGI/BW.cgi#!}}{{Dead link|date=June 2018 |bot=InternetArchiveBot |fix-attempted=no }}
14. ^{{cite web|title=San Diego Biology Workbench PI|url=http://seqtool.sdsc.edu/CGI/BW.cgi#!}}{{Dead link|date=June 2018 |bot=InternetArchiveBot |fix-attempted=no }}
15. ^1 {{cite web|title=Aceview|url=https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=TTC39A&submit=Go}}
16. ^{{cite web|title=Large-scale analysis of the human transcriptome (HG-U133A|url=https://www.ncbi.nlm.nih.gov/geo/tools/profileGraph.cgi?ID=GDS596:217101_at}}
17. ^{{cite journal |vauthors=Woodfield GW, Chen Y, Bair TB, Domann FE, Weigel RJ | title = Identification of primary gene targets of TFAP2C in hormone responsive breast carcinoma cells | journal = Genes Chromosomes Cancer | volume = 49 | issue = 10 | pages = 948–62 |date=October 2010 | pmid = 20629094 | pmc = 2928401 | doi = 10.1002/gcc.20807 }}
18. ^{{cite journal |vauthors=Kuang WW, Thompson DA, Hoch RV, Weigel RJ | title = Differential screening and suppression subtractive hybridization identified genes differentially expressed in an estrogen receptor-positive breast carcinoma cell line | journal = Nucleic Acids Res. | volume = 26 | issue = 4 | pages = 1116–23 |date=February 1998 | pmid = 9461476 | pmc = 147366 | doi = 10.1093/nar/26.4.1116 }}
19. ^{{cite web|title=Netphos|url=http://www.cbs.dtu.dk/services/NetPhos/}}
20. ^{{cite web|title=Expasy Sulfinator|url=http://web.expasy.org/sulfinator/}}
21. ^{{cite web|title=Expasy NetAcet|url=http://www.cbs.dtu.dk/services/NetAcet/}}
22. ^{{cite web | url = http://string-db.org/version_9_0/newstring_cgi/show_database_details.pl?identifier=9606.ENSP00000406144&all_channels_on=1&data_channel=database&dataset=BCRT2370&targetmode=proteins | title = TTC39A | work = STRING: functional protein association networks | publisher = }}
23. ^{{cite journal |vauthors=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 | title = Cell fate decisions are specified by the dynamic ERK interactome | journal = Nat. Cell Biol. | volume = 11 | issue = 12 | pages = 1458–64 |date=December 2009 | pmid = 19935650 | doi = 10.1038/ncb1994 | pmc = 3839079 }}
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