Aliases for CCZ1 Gene

Aliases for CCZ1 Gene

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

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. Diseases associated with CCZ1 include Hermansky-Pudlak Syndrome 4 and Hermansky-Pudlak Syndrome. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. An important paralog of this gene is CCZ1B.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCZ1 Gene

Genomics for CCZ1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCZ1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCZ1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCZ1

Genomic Locations for CCZ1 Gene

Latest Assembly
chr7:5,898,725-5,926,550
(GRCh38/hg38)
Size:
27,826 bases
Orientation:
Plus strand

Previous Assembly
chr7:5,938,364-5,966,181
(GRCh37/hg19 by Entrez Gene)
Size:
27,818 bases
Orientation:
Plus strand

chr7:5,938,356-5,965,605
(GRCh37/hg19 by Ensembl)
Size:
27,250 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). Found in a complex with RMC1, CCZ1, MON1A and MON1B (PubMed:29038162).

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

Gene Families for CCZ1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CCZ1 Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar fusion protein CCZ1 homolog (CCZ1_HUMAN)

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

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).

Phenotypes From GWAS Catalog for CCZ1 Gene

Gene Ontology (GO) - Molecular Function for CCZ1 Gene

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

miRNA for CCZ1 Gene

miRTarBase miRNAs that target CCZ1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCZ1

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
endosome 5
cytosol 5
lysosome 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0035658 Mon1-Ccz1 complex IEA,IDA 29038162
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

Gene Ontology (GO) - Biological Process for CCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport IEA,IBA 21873635
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with CCZ1: view

No data available for SIGNOR curated interactions for CCZ1 Gene

Drugs & Compounds for CCZ1 Gene

No Compound Related Data Available

Transcripts for CCZ1 Gene

mRNA/cDNA for CCZ1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCZ1

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCZ1

SOURCE GeneReport for Unigene cluster for CCZ1 Gene:

Hs.530000

Evidence on tissue expression from TISSUES for CCZ1 Gene

  • Nervous system(4.7)
  • Skin(4.4)
  • Lung(2.4)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 -- 30
  • 100 (a)
ManyToMany
LOC463258 29
  • 99.45 (n)
-- 30
  • 99 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 96 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 92 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia CCZ1 29
  • 91.72 (n)
-- 30
  • 79 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CCZ1 29 30
  • 90.36 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ccz1 29
  • 89.31 (n)
Mouse
(Mus musculus)
Mammalia Ccz1 29 30
  • 88.87 (n)
OneToMany
Chicken
(Gallus gallus)
Aves CCZ1 29 30
  • 83.26 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 89 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccz1b 29
  • 77.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccz1 29 30
  • 76.02 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006687 29
  • 48.65 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14980 29 30
  • 46.07 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ccz-1 29 30
  • 44.55 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G80910 29
  • 43.1 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0427300 29
  • 39.25 (n)
Species where no ortholog for CCZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CCZ1: view image
Alliance of Genome Resources:
Additional Orthologs for CCZ1

Paralogs for CCZ1 Gene

Paralogs for CCZ1 Gene

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

  • CCZ1_HUMAN
genes like me logo Genes that share paralogs with CCZ1: view

Variants for CCZ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCZ1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs200812052 Benign: not provided 5,919,854(+) G/A
NM_015622.6(CCZ1):c.994G>A (p.Val332Ile)
MISSENSE
rs201118476 Benign: not provided 5,925,627(+) T/C
NM_015622.6(CCZ1):c.1394-5T>C
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCZ1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for CCZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCZ1
Leiden Open Variation Database (LOVD)
CCZ1

SNP Genotyping and Copy Number Assays for research

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

Disorders for CCZ1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCZ1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 4
  • hps4
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards
Search CCZ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CCZ1

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

No data available for 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 CH … Lin W (Genome research 2000) 2 3 4
  2. Systematic Analysis of Human Cells Lacking ATG8 Proteins Uncovers Roles for GABARAPs and the CCZ1/MON1 Regulator C18orf8/RMC1 in Macroautophagic and Selective Autophagic Flux. (PMID: 29038162) Vaites LP … Harper JW (Molecular and cellular biology 2018) 3 4
  3. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. (PMID: 23084991) Gerondopoulos A … Barr FA (Current biology : CB 2012) 3 4
  4. Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells. (PMID: 20305638) Kinchen JM … Ravichandran KS (Nature 2010) 2 3
  5. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PMID: 19413330) Gauci S … Mohammed S (Analytical chemistry 2009) 3 4

Products for CCZ1 Gene

Sources for CCZ1 Gene