CZIB

Last updated
CZIB
Identifiers
Aliases CZIB , chromosome 1 open reading frame 123, C1orf123, CXXC motif containing zinc binding protein
External IDs MGI: 1921348 HomoloGene: 41206 GeneCards: CZIB
Gene location (Human)
Ideogram human chromosome 1.svg
Chr. Chromosome 1 (human) [1]
Human chromosome 1 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 1p32.3Start53,214,099 bp [1]
End53,220,634 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001304759
NM_001304760
NM_017887

NM_028754
NM_001347160

RefSeq (protein)

NP_001291688
NP_001291689
NP_060357

NP_001334089
NP_083030

Location (UCSC) Chr 1: 53.21 – 53.22 Mb Chr 4: 107.89 – 107.9 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

CZIB is a gene in the human genome that encodes the protein CXXC motif containing zinc binding protein. CZIB was previously referred to as C1orf123.

Contents

Gene

CZIB is a gene located in the human genome on the short arm of chromosome 1 at p32.2, between 53,679,771 base pairs and 53,686,289 base pairs. It is 6,519 bases long with 8 exons and encodes the C1orf123 protein, also known as UPF0587. [5]

Gene Neighborhood

The following genes are close to CZIB on chromosome 1

-LRP8:This gene encodes a member of the low density lipoprotein receptor (LDLR) family, a cell surface protein that plays a role in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. [6]

-CPT2: This gene encodes a nuclear protein that is transported to the mitochondrial inner membrane. [7]

-MAGOH: Encodes protein that is a component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. [8]

-SLC1A7: Transports L-glutamate. Its associated chloride conductance may participate in visual processing. [9]

Protein

The CZIB protein is 160 amino acids in length and weighs 18.0 kdal. [5] It has an isoelectric point of 4.73 and belongs to the domain/family DUF866 which consists of many hypothetical eukaryotic proteins of unknown function, all of them with a length around 165 residues. [10] Aliases of the protein include FLJ20580 and UPF0587 Protein [11]

Homology

CZIB has many orthologs in close and distant species including primates, mammals, reptiles, birds, invertebrates, moss and yeast. The protein sequences are highly conserved throughout these species, although mRNA transcripts of the gene have only been found in primates. There are no paralogs of C1orf123. [12]

Orthologs of C1orf123 Orthologs of C1orf123.png
Orthologs of C1orf123
Phylogenetic Tree Phylogenetic Tree of C1orf123 Orthologs.pdf
Phylogenetic Tree

Structure

The C1orf123 protein has no transmembrane regions so is therefore likely not a transmembrane protein. Three post-translational modification sites have been experimentally found, including a phosphotyrosine, phosphoserine, and glycyl-lysine isopeptide. [13] A portion of the 3' UTR of C1orf123 has 100% identity with the mRNA for Homo sapiens carnitine palmityoyltransferase 2 is a nuclear gene that encodes mitochondrial protein. This gene works with carnitine palmitoyltransferase I, and the encoded protein oxidizes long-chain fatty acids in the mitochondria. [14] C1orf123 protein secondary structure has been found to be very similar to that of MAL13P1.257 protein. C1orf123 protein is thought to have seven beta-sheet regions and one alpha helix region and according to the Phyre2 program, there is 100% confidence that the structure of 95% of the C1orf123 protein matches the hypothetical protein MAL13P1.257. [15] The MAL13P1.257 is a hypothetical conserved plasmodium protein of unknown function [16]

Gene expression

C1orf123 Expression Under Hypoxic Conditions C1orf123 Hypoxic Condition.png
C1orf123 Expression Under Hypoxic Conditions

Various gene expression data has shown that "C1orf123" is expressed in varying amounts within the human body. It is most highly expressed in nerve and pituitary glands and not expressed in other body sites such as ear, esophagus, larynx, and tonsil. [17] When health states were compared for the expression of "C1orf123" it was found that expression of the gene increased in adrenal tumors and decreased to below normal levels in kidney and lung tumors. For developmental stages, "C1orf123" is most highly expressed in the fetus and not at all expressed in neonates and infants. For the most part, "C1orf123" is expressed in relatively average amounts in the human body with the exception of CD34+ and CD56+NK cells where expression is twice the amount of the average. [18] GEO profiles give some insight into the expression of "C1orf123" under varying conditions. Expression of the gene is seen to be absent under hypoxic conditions as seen in the figure below. GEO profiles also show that expression of "C1orf123" does not change in papillary thyroid cancer or chlamydia pneumonia infection. [19]

Clinical significance

The loss of the short arm of chromosome 1, the part of chromosome 1 that C1orf123 is located on, cause and parathyroid gland tumorigenesis resulting in hyperparathyroidism. 60% of the tumors tested showed an alteration on either 1p or the MEN1 locus or both. The conclusion of this study is that the short arm of chromosome 1 contains at least two different tumor suppressor genes involved in parathyroid tumorigenesis. [20]

Related Research Articles

Chromosome 11

Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm is termed 11p while the longer arm is 11q. At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome.

C11orf16

Gene C11orf16, chromosome 11 open reading frame 16, is a protein in humans that is encoded by the C11orf16 gene. It has 7 exons, and the size of 467 amino acids.

C9orf64

C9orf64 is a gene located on chromosome 9, that in humans encodes the protein queuosine salvage protein. The function and biological process of the queuosine salvage protein is not well understood by the scientific community, but some evidence from orthologs indicates it may be involved in tRNA processing. The most common mRNA contains 4 coding exons, and it has 2 additional alternatively spliced exons. C9orf64 has been found in 5 different splice variants.

METTL26

METTL26, previously designated C16orf13, is a protein-coding gene for Methyltransferase Like 26, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.

CFAP206

Cilia And Flagella Associated Protein 206 (CFAP206) is a gene that in humans encodes a protein “DUF3508”. This protein has a function that is not currently very well understood. Other known aliases are “dJ382I10.1, UPF0704 Protein C6orf165.” In humans, the gene coding sequence is 56,501 base pairs long, with an mRNA of 2,215 base pairs, and a protein sequence of 622 amino acids. The C6orf165 gene is conserved in chimpanzee, rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, mosquito, frog, and more C6orf165 is rarely expressed in humans, with relatively high expression in brain, lungs (trachea) and testis. The molecular weight of UPF0704 is 71,193 Da and the PI is 6.38

Chromosome 1 open reading frame 162

Chromosome 1 open reading frame 162 is a protein that in humans is encoded by the C1orf162 gene. It has been found to be hypomethylated in instances of gastric cancer.

Cardiac-enriched FHL2-interacting protein (CEFIP) is a protein encoded by the gene C10orf71 on chromosome 10 open reading frame 71. It is primarily understood that this gene is moderately expressed in muscle tissue and cardiac tissue.

C21orf62

C21orf62 is a protein that, in humans, is encoded by the C21orf62 gene. C21orf62 is found on human chromosome 21, and it is thought to be expressed in tissues of the brain and reproductive organs. Additionally, C21orf62 is highly expressed in ovarian surface epithelial cells during normal regulation, but is not expressed in cancerous ovarian surface epithelial cells.

C6orf62

Chromosome 6 open reading frame 62 (C6orf62), also known as X-trans-activated protein 12 (XTP12), is a gene that encodes a protein of the same name. The encoded protein is predicted to have a subcellular location within the cytosol.

C21orf58

Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.

SHLD1

SHLD1 or shieldin complex subunit 1 is a gene on chromosome 20. The C20orf196 gene encodes an mRNA that is 1,763 base pairs long, and a protein that is 205 amino acids long.

C15orf39

C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.

Chromosome 9 open reading frame 43

Chromosome 9 open reading frame 43 is a protein that in humans is encoded by the C9orf43 gene. The gene is also known as MGC17358 and LOC257169. C9orf43 contains DUF 4647 and a polyglutamine repeat region although protein function is not well understood.

C9orf25

Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.

C2orf81 is a human gene encoding protein c2orf81, which is predicted to have nuclear localization.

C19orf44

Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.

C20orf202

C20orf202 is a protein that in humans is encoded by the C20orf202 gene. In humans, this gene encodes for a nuclear protein that is primarily expressed in the lung and placenta.

C17orf78

Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.

C1orf94

Chromosome 1 Opening Reading Frame 94 or C1orf94 is a protein in human coded by the C1orf94 gene. The function of this protein is still poorly understood.

C6orf136

C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000162384 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028608 - 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 "C1orf123 Gene - GeneCards | CA123 Protein | CA123 Antibody". GeneCards. Retrieved 2013-09-22.
  6. "LRP8 Gene - GeneCards | LRP8 Protein | LRP8 Antibody". GeneCards. Retrieved 2013-09-22.
  7. "CPT2 Gene - GeneCards | CPT2 Protein | CPT2 Antibody". GeneCards. Retrieved 2013-09-22.
  8. "MAGOH Gene - GeneCards | MGN Protein | MGN Antibody". GeneCards. Retrieved 2013-09-22.
  9. "SLC1A7 Gene - GeneCards | EAA5 Protein | EAA5 Antibody". GeneCards. Retrieved 2013-09-22.
  10. "Embl-Ebi". Ebi.ac.uk. Retrieved 2013-12-02.
  11. "C1orf123 Gene - GeneCards | CA123 Protein | CA123 Antibody". GeneCards. Retrieved 2013-09-22.
  12. [ dead link ]
  13. "dbPTM". Dbptm.mbc.nctu.edu.tw. Retrieved 2013-09-22.
  14. "Homo sapiens carnitine palmitoyltransferase 2 (CPT2), mRNA - Nucleotide - NCBI". Ncbi.nlm.nih.gov. 2013-03-25. Retrieved 2013-09-22.
  15. Protein structure prediction on the web: a case study using the Phyre server Kelley LA and Sternberg MJE. Nature Protocols 4, 363 - 371 (2009)
  16. "MAL13P1.257 conserved Plasmodium protein, unknown function [Plasmodium falciparum 3D7] - Gene - NCBI". Ncbi.nlm.nih.gov. Retrieved 2013-09-22.
  17. [ dead link ]
  18. "C1orf123". Biogps.org. Retrieved 2015-02-25.
  19. "Home - Geo - Ncbi". Ncbi.nlm.nih.gov. Retrieved 2013-09-22.
  20. Välimäki S, Forsberg L, Farnebo LO, Larsson C (2002). "Distinct target regions for chromosome 1p deletions in parathyroid adenomas and carcinomas". Int. J. Oncol. 21 (4): 727–35. doi:10.3892/ijo.21.4.727. PMID   12239610.