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CCDC82

CCDC82
Identifiers
AliasesCCDC82, HSPC048, coiled-coil domain containing 82
External IDsMGI: 1913646; HomoloGene: 11678; GeneCards: CCDC82; OMA:CCDC82 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

79780

66396

Ensembl

ENSG00000149231

ENSMUSG00000079084

UniProt

Q8N4S0

Q6PG04

RefSeq (mRNA)

NM_014148
NM_024725
NM_001318736
NM_001318737
NM_001363594

NM_025534

RefSeq (protein)

NP_001305665
NP_001305666
NP_079001
NP_001350523

NP_079810

Location (UCSC)Chr 11: 96.35 – 96.39 MbChr 9: 13.25 – 13.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled-Coil Domain Containing protein 82 (CCDC82) is a protein that in humans, is encoded for by the gene of the same name, CCDC82. The CCDC82 gene is expressed in nearly all of human tissues at somewhat low rates. As of today, there are no patents involving CCDC82 and the function remains unknown.

Gene

CCDC82 is located on chromosome 11 at 11q21.5.[5] It contains two domains of unknown function, DUF4196 and DUF4211.[6] The DNA sequence is 37,155 base pairs long[7] and contains 7 exons.[8]

Homology

CCDC82 is present in many orthologs. It is conserved throughout other mammals, reptiles, birds and bony fish. It is not found in invertebrates, bacteria or fungi. There are no paralogs.[9]

Unrooted phylogenetic tree
Scientific name Common name Date of divergence Accession number Length Percent identity Percent similarity
Pan troglodytes Chimpanzee 6.3 Mya XP_001147806.1 544 aa 60.8 99
Gorilla gorilla gorilla Gorilla 8.8 Mya XP_004052053.1 521 aa 56.2 91
Pongo pygmaeus Orangutan 15.7 Mya NP_003253075.1 343 aa 95.3 98
Nomascus leucogenys Crested gibbon 20.4 Mya XP_003253075.1 554 aa 57.8 94
Papio anubis Olive baboon 29 Mya XP_003910631.1 542 aa 52 86
Callithrix jacchus Marmoset 42.6 Mya XP_002754732.1 526 aa 51.2 86
Mus musculus Mouse 92.3 Mya NP_079810.2 518 aa 39.7 74
Rattus norvegicus Brown rat 92.3 Mya NP_001007661.1 516 aa 37.4 71
Canis lupus familiaris Dog 94.2 Mya XP_542232.2 520 aa 46 79
Bos taurus Cow 94.2 Mya NP_001039559.2 522 aa 42.4 74
Ailuropoda melanoleuca Giant panda 94.2 Mya XP_002925755.1 528 aa 45.4 80
Loxodonta africana African bush elephant 98.7 Mya XP_003415705.1 521 aa 40.4 75
Sarcophilus harrisii Tasmanian devil 162.2 Mya XP_003764344.1 518 aa 36.9 70
Monodelphis domestica Gray short-tailed opossum 162.2 Mya XP_001363143.1 516 aa 36.7 72
Ornithorhynchus anatinus Platypus 167.4 Mya XP_001511067.1 505 aa 26.6 70
Gallus gallus Chicken 296 Mya XP_423807.3 460 aa 24.3 56
Meleagris gallopavo Wild turkey 296 Mya XP_003203546.1 462 aa 21.5 70
Taeniopygia guttata Zebra finch 296 Mya XP_002198267.1 575 aa 20 61
Anolis carolinensis Carolina anole 296 Mya XP_003219357.1 603 aa 19.9 49
Xenopus tropicalis Western clawed frog 371.2 Mya XP_002935613.1 462 aa 21 73

mRNA

Promoter

The predicted promoter for CCDC82 is located on the minus strand and spans from base pairs 96,122,963 to 96,123,587. It is 625 base pairs long.[10]

Transcription factors

The transcription factors listed below are for the predicted promoter sequence and are located on the minus strand.[11]

Detailed Family Information Span Score
Alternative splicing variant of FOXP1 48-64 1.00
Homeodomain transcription factor Otx2 34-50 .992
Hypoxia-response Elements 111-127 .985
Homeobox A10/HOX 1.8 52-68 .957
SRY box 9 80-104 .947
Mesoderm posterior 1 and 2 42-62 .937
c-Myc/Max heterodimer 44-60 .929
SAM pointed domain containing ets transcription factor 27-47 .923
cAMP-responsive element binding protein 134-154 .917
PR domain zinc finger protein 14 138-152 .912

Protein

The protein it encodes for is 344 amino acids in length. The protein itself is very acidic and is very rich in aspartic acid and glutamic acid. It is also very deficient in alanine, containing only two alanines in the entire sequence. The alanines are located adjacent to each other, amino acid number 233 and 234. Alanine 233 is highly conserved throughout the orthologs. The molecular weight is 40.0 kdal and the isoelectric point is 4.383[12]

Expression

This image shows the level of expression of CCDC82 in different tissues throughout the body.

CCDC82 is found in nearly all tissues in the human body, however it is present in higher quantities in the skeletal muscles, adrenal cortex, and the trigeminal ganglion.[13][14]

Post translational modifications

CCDC82 has several predicted phosphorylation sites.[15] There are 32 predicted serine phosphorylation sites, 5 threonine, and 3 tyrosine.[16]

Interactions

CCDC82 is known to interact with two proteins. It indirectly interacts with VHL, a gene that encodes for a tumor suppressor and ubiquitin protein ligase. It also interacts with EWSR1, which functions as a transcriptional repressor.[17]

Clinical significance

CCDC82 is a circulat-responsive gene.[18] Circulat is a product designed to restore systemic vascular health. It is a plant based product and taken by patients who suffer from diabetes or circulatory problems.[19]

Possible function

Based on the information that CCDC82 is affected by the Circulat product it could be hypothesized that CCDC82 is involved in circulatory function. However, this is purely speculation.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000149231 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079084 – 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. ^ "CCDC82 Genomic Views". GeneCards. Weizmann Institute of Science.
  6. ^ "CCDC82 Protein Domains and Families". GeneCards. Weizmann Institute of Science.
  7. ^ "Homo sapiens chromosome 11, GRCh37.p10 Primary Assembly". NCBI. 13 August 2013.
  8. ^ "Prediction of several variants of multiple genes". Softberry.
  9. ^ "CCDC82 BLAST". BLAST. NCBI.
  10. ^ "Genome Browser". ElDorado. Genomatix.
  11. ^ "Transcription Factor Binding Sites". ElDorado. Genomatix.
  12. ^ "SAPS". Biology Workbench. SDSU.[permanent dead link‍]
  13. ^ "Large-scale analysis of the human transcriptome (HG-U133A)". GeoProfiles. NCBI.
  14. ^ Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (August 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–8. Bibcode:2000PNAS...97.9543H. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
  15. ^ Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  16. ^ "CCDC82". NetPhos 2.0. Center for Biological Analysis. Archived from the original on 2013-10-16. Retrieved 2013-05-14.
  17. ^ "CCDC82". Gene Cards. Weizmann Institute of Science. Retrieved 2 May 2013.
  18. ^ Antoshechkin A, Olalde J, Magarici M, Muhammad A, Salom A, Suarez J, Amendola F (August 2007). "Analysis of effects of the herbal preparation Circulat on gene expression levels in cultured human fibroblasts". Phytother Res. 21 (8): 777–89. doi:10.1002/ptr.2174. PMID 17514633. S2CID 29862628.
  19. ^ "About Circulat". Circulat. Circulat Biotech LLC. Archived from the original on 2013-08-31.
Quelle: https://en.wikipedia.org/wiki/CCDC82