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Aliases for CCZ1 Gene

Aliases for CCZ1 Gene

  • CCZ1 Homolog, Vacuolar Protein Trafficking And Biogenesis Associated 2 3 5
  • C7orf28A 3 4
  • CCZ1 Vacuolar Protein Trafficking And Biogenesis Associated Homolog (S. Cerevisiae) 2
  • CCZ1 Vacuolar Protein Trafficking And Biogenesis Associated Homolog 3
  • Vacuolar Fusion Protein CCZ1 Homolog 3
  • Chromosome 7 Open Reading Frame 28A 2
  • H_DJ1163J12.2 3
  • H_NH0577018.2 3
  • CGI-43 3
  • CCZ1A 3

External Ids for CCZ1 Gene

Previous HGNC Symbols for CCZ1 Gene

  • C7orf28A

Previous GeneCards Identifiers for CCZ1 Gene

  • GC07P005938

Summaries for CCZ1 Gene

GeneCards Summary for CCZ1 Gene

CCZ1 (CCZ1 Homolog, Vacuolar Protein Trafficking And Biogenesis Associated) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport. An important paralog of this gene is CCZ1B.

UniProtKB/Swiss-Prot for CCZ1 Gene

  • Acts in concert with MON1A, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCZ1 Gene

Genomics for CCZ1 Gene

Regulatory Elements for CCZ1 Gene

Enhancers for CCZ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F005523 1.6 FANTOM5 ENCODE 18.5 -369.2 -369213 11.1 MLX CREB3L1 FEZF1 DMAP1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D CCZ1 AP5Z1 ANKRD61 USP42 FBXL18 WIPI2 ACTB RBAK GC07M005528 GC07M005529
GH07F005591 1.5 FANTOM5 ENCODE 13 -303.3 -303258 8.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 C7orf26 AP5Z1 RPL22P16 CCZ1 USP42 FSCN1 ACTB FBXL18 AIMP2 RNF216-IT1
GH07F006055 1.7 FANTOM5 Ensembl ENCODE 9 +159.0 158977 4.3 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF207 FOS EIF2AK1 CCZ1 RNU6-218P
GH07F006076 1.2 Ensembl ENCODE 12.2 +179.2 179211 2.3 MLX ARID4B DMAP1 ZNF48 GTF3C2 SLC30A9 FOS JUNB TSHZ1 PPARG ZNF316 C7orf26 PMS2 ANKRD61 CCZ1 USP42 EIF2AK1
GH07F005486 1.3 Ensembl ENCODE 10.4 -411.1 -411113 2.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 KLF13 DEK ZNF263 ANKRD61 CCZ1 ENSG00000230733 USP42 FBXL18 GC07M005483 MIR589
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCZ1 on UCSC Golden Path with GeneCards custom track

Promoters for CCZ1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000621506 190 2201 ELF3 CTCF PKNOX1 SAP130 ETV1 ARID4B ZBTB40 CHAMP1 GATAD1 POLR2A

Genomic Location for CCZ1 Gene

Chromosome:
7
Start:
5,898,710 bp from pter
End:
5,926,550 bp from pter
Size:
27,841 bases
Orientation:
Plus strand

Genomic View for CCZ1 Gene

Genes around CCZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCZ1 Gene

Proteins for CCZ1 Gene

  • Protein details for CCZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P86791-CCZ1_HUMAN
    Recommended name:
    Vacuolar fusion protein CCZ1 homolog
    Protein Accession:
    P86791
    Secondary Accessions:
    • A2RU45
    • O95766
    • Q9UG65
    • Q9Y359

    Protein attributes for CCZ1 Gene

    Size:
    482 amino acids
    Molecular mass:
    55866 Da
    Quaternary structure:
    • Interacts with MON1A (PubMed:23084991).

neXtProt entry for CCZ1 Gene

Post-translational modifications for CCZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCZ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCZ1 Gene

Domains & Families for CCZ1 Gene

Protein Domains for CCZ1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCZ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P86791

UniProtKB/Swiss-Prot:

CCZ1_HUMAN :
  • Belongs to the CCZ1 family.
Family:
  • Belongs to the CCZ1 family.
genes like me logo Genes that share domains with CCZ1: view

No data available for Gene Families for CCZ1 Gene

Function for CCZ1 Gene

Molecular function for CCZ1 Gene

UniProtKB/Swiss-Prot Function:
Acts in concert with MON1A, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991).

Gene Ontology (GO) - Molecular Function for CCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 23084991
GO:0005515 protein binding IPI 23084991
genes like me logo Genes that share ontologies with CCZ1: view

Phenotypes for CCZ1 Gene

genes like me logo Genes that share phenotypes with CCZ1: view

Animal Model Products

miRNA for CCZ1 Gene

miRTarBase miRNAs that target CCZ1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCZ1 Gene

Localization for CCZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCZ1 Gene

Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCZ1 gene
Compartment Confidence
cytosol 5
lysosome 4
nucleus 2
endosome 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0016235 aggresome IDA --
genes like me logo Genes that share ontologies with CCZ1: view

Pathways & Interactions for CCZ1 Gene

genes like me logo Genes that share pathways with CCZ1: view

Pathways by source for CCZ1 Gene

2 Reactome pathways for CCZ1 Gene

Interacting Proteins for CCZ1 Gene

Gene Ontology (GO) - Biological Process for CCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with CCZ1: view

No data available for SIGNOR curated interactions for CCZ1 Gene

Transcripts for CCZ1 Gene

Unigene Clusters for CCZ1 Gene

CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCZ1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1:
SP2: - -

Relevant External Links for CCZ1 Gene

GeneLoc Exon Structure for
CCZ1
ECgene alternative splicing isoforms for
CCZ1

Expression for CCZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCZ1 Gene

Protein differential expression in normal tissues from HIPED for CCZ1 Gene

This gene is overexpressed in Breast (58.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCZ1 Gene



Protein tissue co-expression partners for CCZ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCZ1 Gene:

CCZ1

SOURCE GeneReport for Unigene cluster for CCZ1 Gene:

Hs.530000
genes like me logo Genes that share expression patterns with CCZ1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCZ1 Gene

Orthologs for CCZ1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 100 (a)
ManyToMany
LOC463258 34
  • 99.45 (n)
-- 35
  • 99 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CCZ1 34
  • 91.72 (n)
-- 35
  • 79 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CCZ1 34 35
  • 90.36 (n)
rat
(Rattus norvegicus)
Mammalia Ccz1 34
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Ccz1 34 35
  • 88.87 (n)
chicken
(Gallus gallus)
Aves CCZ1 34 35
  • 83.26 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 89 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ccz1b 34
  • 77.81 (n)
zebrafish
(Danio rerio)
Actinopterygii ccz1 34 35
  • 76.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006687 34
  • 48.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14980 34 35
  • 46.07 (n)
worm
(Caenorhabditis elegans)
Secernentea ccz-1 34 35
  • 44.55 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G80910 34
  • 43.1 (n)
rice
(Oryza sativa)
Liliopsida Os08g0427300 34
  • 39.25 (n)
Species where no ortholog for CCZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CCZ1 Gene

ENSEMBL:
Gene Tree for CCZ1 (if available)
TreeFam:
Gene Tree for CCZ1 (if available)

Paralogs for CCZ1 Gene

Paralogs for CCZ1 Gene

(2) SIMAP similar genes for CCZ1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CCZ1: view

Variants for CCZ1 Gene

Sequence variations from dbSNP and Humsavar for CCZ1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10258609 -- 5,914,252(+) ACATA(C/G)TAAGA intron-variant
rs10270655 -- 5,914,832(+) GCTTA(C/T)GCCAC intron-variant
rs1061428 -- 5,925,657(+) GCAAC(A/G)CAGTT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon
rs10645268 -- 5,909,106(+) TTTTT(-/T)ATCTC intron-variant
rs111250397 -- 5,910,710(+) TTTTA(-/T/TTTTAT)TTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCZ1 Gene

Variant ID Type Subtype PubMed ID
nsv981428 CNV duplication 23825009
nsv970789 CNV duplication 23825009
nsv970788 CNV duplication 23825009
nsv830894 CNV loss 17160897
nsv830892 CNV loss 17160897
nsv436904 CNV insertion 17901297
nsv1153955 CNV duplication 26484159
nsv1034916 CNV gain 25217958
nsv1017061 CNV loss 25217958
esv3571591 CNV loss 25503493
esv3571589 CNV loss 25503493
esv274969 CNV loss 21479260
esv2663734 CNV deletion 23128226
esv2421482 CNV deletion 20811451
dgv6243n100 CNV loss 25217958
dgv6241n100 CNV gain 25217958
dgv1863e212 CNV loss 25503493

Variation tolerance for CCZ1 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCZ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCZ1 Gene

Disorders for CCZ1 Gene

Relevant External Links for CCZ1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCZ1

No disorders were found for CCZ1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCZ1 Gene

Publications for CCZ1 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  2. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. (PMID: 23084991) Gerondopoulos A. … Barr F.A. (Curr. Biol. 2012) 3 4 64
  3. Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells. (PMID: 20305638) Kinchen J.M. … Ravichandran K.S. (Nature 2010) 2 3 64
  4. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PMID: 19413330) Gauci S. … Mohammed S. (Anal. Chem. 2009) 3 4 64
  5. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PMID: 18220336) Cantin G.T. … Yates J.R. III (J. Proteome Res. 2008) 3 4 64

Products for CCZ1 Gene

Sources for CCZ1 Gene

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