Human Gene CCZ1B (ENST00000316731.13_8) from GENCODE V47lift37
  Description: CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated (from RefSeq NM_198097.5)
Gencode Transcript: ENST00000316731.13_8
Gencode Gene: ENSG00000146574.16_15
Transcript (Including UTRs)
   Position: hg19 chr7:6,838,568-6,865,906 Size: 27,339 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr7:6,838,855-6,865,828 Size: 26,974 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:6,838,568-6,865,906)mRNA (may differ from genome)Protein (482 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CCZ1B_HUMAN
DESCRIPTION: RecName: Full=Vacuolar fusion protein CCZ1 homolog B; AltName: Full=Vacuolar fusion protein CCZ1 homolog-like;
SUBCELLULAR LOCATION: Lysosome membrane.
SIMILARITY: Belongs to the CCZ1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.67 RPKM in Adrenal Gland
Total median expression: 310.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.0078-0.410 Picture PostScript Text
3' UTR -56.00287-0.195 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013176 - DUF1712_fun

Pfam Domains:
PF19031 - First Longin domain of INTU, CCZ1 and HPS4
PF19032 - Intu longin-like domain 2
PF19033 - Intu longin-like domain 3

ModBase Predicted Comparative 3D Structure on P86790
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0016192 vesicle-mediated transport

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016235 aggresome
GO:0031982 vesicle
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AF151801 - Homo sapiens CGI-43 protein mRNA, complete cds.
AL050215 - Homo sapiens mRNA; cDNA DKFZp586I1023 (from clone DKFZp586I1023).
BC067810 - Homo sapiens chromosome 7 open reading frame 28B, mRNA (cDNA clone IMAGE:5276378).
BC108302 - Homo sapiens cDNA clone IMAGE:6171433, containing frame-shift errors.
AK090536 - Homo sapiens cDNA FLJ33217 fis, clone ASTRO2000372.
AX746498 - Sequence 23 from Patent EP1308459.
AK296026 - Homo sapiens cDNA FLJ60592 complete cds.
BC010130 - Homo sapiens chromosome 7 open reading frame 28B, mRNA (cDNA clone MGC:19819 IMAGE:3953739), complete cds.
AK292326 - Homo sapiens cDNA FLJ75795 complete cds.
JD487254 - Sequence 468278 from Patent EP1572962.
BC132749 - Homo sapiens chromosome 7 open reading frame 28A, mRNA (cDNA clone MGC:164380 IMAGE:40146771), complete cds.
BC132751 - Homo sapiens chromosome 7 open reading frame 28A, mRNA (cDNA clone MGC:164382 IMAGE:40146773), complete cds.
JF432176 - Synthetic construct Homo sapiens clone IMAGE:100073330 chromosome 7 open reading frame 28B (C7orf28B) gene, encodes complete protein.
KJ895873 - Synthetic construct Homo sapiens clone ccsbBroadEn_05267 CCZ1B gene, encodes complete protein.
KJ898935 - Synthetic construct Homo sapiens clone ccsbBroadEn_08329 CCZ1 gene, encodes complete protein.
CU679629 - Synthetic construct Homo sapiens gateway clone IMAGE:100019611 5' read C7orf28B mRNA.
AK000993 - Homo sapiens cDNA FLJ10131 fis, clone HEMBA1003041.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P86790 (Reactome details) participates in the following event(s):

R-HSA-8877451 MON1:CCZ1 exchanges GTP for GDP on RAB7
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-9007101 Rab regulation of trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A2RU45, C7orf28B, CCZ1B_HUMAN, ENST00000316731.1, ENST00000316731.10, ENST00000316731.11, ENST00000316731.12, ENST00000316731.2, ENST00000316731.3, ENST00000316731.4, ENST00000316731.5, ENST00000316731.6, ENST00000316731.7, ENST00000316731.8, ENST00000316731.9, NM_198097, O95766, P86790, Q9UG65, Q9Y359, uc317qbv.1, uc317qbv.2
UCSC ID: ENST00000316731.13_8
RefSeq Accession: NM_198097.5
Protein: P86790 (aka CCZ1B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.