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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCZ1B Gene

protein-coding   GIFtS: 38
GCID: GC07M006836

CCZ1 vacuolar protein trafficking and biogenesis associated...

(Previous name: chromosome 7 open reading frame 28B )
(Previous symbol: C7orf28B)
  Search for CCZ1B
in our new
 Human Malady Compendium 
Biological research products
for CCZ1B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CCZ1 Vacuolar Protein Trafficking And Biogenesis Associated Homolog B (S.
Cerevisiae)1 2
     Chromosome 7 Open Reading Frame 28B1
C7orf28B1 2 3     H_DJ1163J12.22
H_NH0577018.21 2     Vacuolar Fusion Protein CCZ1 Homolog B2
DKFZP586I10231     Vacuolar Fusion Protein CCZ1 Homolog-Like3
MGC198191     

External Ids:    HGNC: 217171   Entrez Gene: 2219602   Ensembl: ENSG000001465747   UniProtKB: P867903   

Export aliases for CCZ1B gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CCZ1B
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCZ1B promoter sequence
   Search SABiosciences Chromatin IP Primers for CCZ1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCZ1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22.1   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22.2

CCZ1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCZ1B gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M006836:  view genomic region     (about GC identifiers)

Start:
6,836,440 bp from pter      End:
6,866,401 bp from pter
Size:
29,962 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 6,885,604-6,912,964     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CCZ1B_HUMAN, P86790 (See protein sequence)
Recommended Name: Vacuolar fusion protein CCZ1 homolog B  
Size: 482 amino acids; 55866 Da
Subcellular location: Lysosome membrane
Secondary accessions: A2RU45 O95766 Q9UG65 Q9Y359

Explore the universe of human proteins at neXtProt for CCZ1B: NX_P86790

CCZ1B Protein expression data from MOPED and PaxDb:    About this image 
CCZ1B Protein Expression

REFSEQ proteins: NP_932765.1  
ENSEMBL proteins: 
 ENSP00000314544   ENSP00000390078   ENSP00000444720  

Human Recombinant Protein Products for CCZ1B: 
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Uscn Proteins for CCZ1B

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005765lysosomal membrane IEA--

CCZ1B for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CCZ1B for domains           About GeneDecksing

1 InterPro domain/family:
 IPR013176 DUF1712_fun

Graphical View of Domain Structure for InterPro Entry P86790

ProtoNet protein and cluster: P86790

UniProtKB/Swiss-Prot: CCZ1B_HUMAN, P86790
Similarity: Belongs to the CCZ1 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Phenotypes:
     1 GenomeRNAi human phenotype for CCZ1B:
 Increased cell number in G2M,  

Animal Models:
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CCZ1B 

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCZ1B


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCZ1B

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5 Interacting proteins for CCZ1B (P867903 ENSP000003145444) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
FYCO1Q9BQS83, ENSP000002961374I2D: score=2 STRING: ENSP00000296137
DEDDO756183I2D: score=1 
MON1AQ86VX93I2D: score=1 
CDC5LENSP000003605324STRING: ENSP00000360532
UBCENSP000003448184STRING: ENSP00000344818
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CCZ1B
Search CenterWatch for drugs/clinical trials and news about CCZ1B 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CCZ1B gene: 
NM_198097.3  

Unigene Cluster for CCZ1B:

CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)
Hs.567779  [show with all ESTs]
Unigene Representative Sequence: BC108302
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000481830 ENST00000472464 ENST00000316731(uc003sqx.2 uc011jxd.2)
ENST00000467004 ENST00000468078 ENST00000462378 ENST00000485620 ENST00000411858
ENST00000490178 ENST00000496187 ENST00000464543(uc003sqy.2) ENST00000486840
ENST00000538180

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Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
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Browse OriGene siRNA
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Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCZ1B (see all 2)
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCZ1B
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Additional cDNA sequence: 

AK000993.1 AK292326.1 AK296026.1 AL050215.1 BC010130.2 BC108302.1 

12 DOTS entries:

DT.100890363  DT.97856263  DT.92072227  DT.75159455  DT.95258711  DT.121095986  DT.121096001  DT.121128033 
DT.121128037  DT.121128051  DT.92072238  DT.95258690 

24/300 AceView cDNA sequences (see all 300):

AI208759 AI309982 AA379841 BQ889481 BQ028327 AL554597 CR590431 BG113949 
BQ938093 CR595861 BU684846 BM992989 AA835425 AA811971 BQ063050 BE874607 
BM761646 BG177605 BP341272 CR597206 BM826046 AJ713879 BE294404 AW189559 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CCZ1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
CCZ1B Expression
About this image
See CCZ1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCZ1B

SOURCE GeneReport for Unigene cluster: Hs.567779
    SABiosciences Custom PCR Arrays for CCZ1B

Primer
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCZ1B
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCZ1B
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCZ1B
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCZ1B

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCZ1B gene from 8/25 species (see all 25)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves CCZ11 CCZ1 vacuolar protein trafficking and biogenesis associated more 83.3(n)
93.87(a)
  416433  NM_001006158.1  NP_001006158.1 
lizard
(Anolis carolinensis)
Reptilia --
--
89(a)
1 → many
GL343507.1(304239-323921)
African clawed frog
(Xenopus laevis)
Amphibia MGC688312 hypothetical protein MGC68831 78.07(n)    BC055965.1 
zebrafish
(Danio rerio)
Actinopterygii zgc553442 hypothetical protein MGC55344 77.98(n)   393103  BC044374.1 
fruit fly
(Drosophila melanogaster)
Insecta CG149801 CG14980 46.18(n)
31.4(a)
  38455  NM_139578.3  NP_647835.1 
worm
(Caenorhabditis elegans)
Secernentea ccz-11 Protein CCZ-1 43.85(n)
29.78(a)
  186547  NM_073986.2  NP_506387.1 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G809101 hypothetical protein 42.96(n)
26.1(a)
  844431  NM_106739.3  NP_178206.1 
rice
(Oryza sativa)
Liliopsida Os08g04273001 hypothetical protein 39.79(n)
25.61(a)
  4345617  NM_001068377.1  NP_001061842.1 


ENSEMBL Gene Tree for CCZ1B (if available)
TreeFam Gene Tree for CCZ1B (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CCZ1B gene
CCZ11 2  
2 SIMAP similar genes for CCZ1B using alignment to 3 protein entries:     CCZ1B_HUMAN (see all proteins):
CCZ1    DKFZp586I1023

CCZ1B for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for CCZ1B
PGOHUM00000245992 PGOHUM00000232926


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/461 NCBI SNPs in CCZ1B are shown (see all 461    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2008158771,2
--6838810(+) AAATGG/TTTGCA 2 -- ds5001 ut310--------
rs1998125171,2
C--6838839(+) CTCTCG/AGTGAG 2 -- ds5001 ut311Minor allele frequency- A:0.00EU 787
rs1388548861,2
C,F--6838871(+) AGAAGA/TTGTTG 3 N I mis1 ds50012Minor allele frequency- T:0.00NA EU 4509
rs2014574851,2
--6838885(+) AACTGC/TGTTGC 3 T syn1 ds50010--------
rs2013699251,2
C,F--6838915(+) TCTGCA/GACAAG 1 -- int11Minor allele frequency- G:0.01EU 841
rs1855813521,2
--6839970(+) CAAAAC/GATATG 1 -- int10--------
rs1434877511,2
--6840375(+) CTTTCG/TGCCAT 1 -- int10--------
rs2015835521,2
F--6840748(+) TCATAC/TGGCCA 1 -- int11Minor allele frequency- T:0.00EU 1159
rs1998415951,2
--6840968(+) GGGACA/GCCTGA 1 -- int10--------
rs2021394821,2
--6841566(+) ATGTG-/CTGT  
        
CTGTC
1 -- int10--------

HapMap Linkage Disequilibrium report for CCZ1B (6836440 - 6866401 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for CCZ1B: --

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCZ1B
DNA2.0 Custom Variant and Variant Library Synthesis for CCZ1B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CCZ1B gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with CCZ1B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  2. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
  5. NOTCH1 nuclear interactome reveals key regulators of i ts transcriptional activity and oncogenic function. (PubMed id 23022380)1 Yatim A....Benkirane M. (2012)
  6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  7. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
  8. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)2 Schroeder B.... Hasilik A. (2007)
  9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 221960 HGNC: 21717 AceView: C7orf28A Ensembl:ENSG00000146574 euGenes: HUgn221960
ECgene: CCZ1B H-InvDB: CCZ1B

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CCZ1B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CCZ1B gene:
Search GeneIP for patents involving CCZ1B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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VWF
(GIFTS: 73)
von Willebrand factor
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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