Aliases for CCZ1B Gene

Aliases for CCZ1B Gene

  • CCZ1 Homolog B, Vacuolar Protein Trafficking And Biogenesis Associated 2 3 5
  • CCZ1 Homolog, Vacuolar Protein Trafficking And Biogenesis Associated B 2 3
  • Vacuolar Fusion Protein CCZ1 Homolog B 3 4
  • H_NH0577018.2 2 3
  • C7orf28B 3 4
  • CCZ1 Vacuolar Protein Trafficking And Biogenesis Associated Homolog B (S. Cerevisiae) 2
  • CCZ1 Vacuolar Protein Trafficking And Biogenesis Associated Homolog B 3
  • CCZ1 Vacuolar Protein Trafficking And Biogenesis Associated B 3
  • Vacuolar Fusion Protein CCZ1 Homolog-Like 4
  • Chromosome 7 Open Reading Frame 28B 2
  • Similar To CGI-43 Protein 2
  • H_DJ1163J12.2 3
  • DKFZP586I1023 2
  • C7orf28A 3
  • MGC19819 2
  • CCZ1B 5
  • CCZ1 3

External Ids for CCZ1B Gene

Previous HGNC Symbols for CCZ1B Gene

  • C7orf28B

Previous GeneCards Identifiers for CCZ1B Gene

  • GC07M006836

Summaries for CCZ1B Gene

GeneCards Summary for CCZ1B Gene

CCZ1B (CCZ1 Homolog B, Vacuolar Protein Trafficking And Biogenesis Associated) is a Protein Coding gene. Diseases associated with CCZ1B 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 CCZ1.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCZ1B Gene

Genomics for CCZ1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCZ1B 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 CCZ1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCZ1B

Genomic Locations for CCZ1B Gene

Latest Assembly
32,637 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
27,339 bases
Minus strand

(GRCh37/hg19 by Ensembl)
32,637 bases
Minus strand

Genomic View for CCZ1B Gene

Genes around CCZ1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCZ1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCZ1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCZ1B Gene

Proteins for CCZ1B Gene

  • Protein details for CCZ1B Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for CCZ1B Gene

    482 amino acids
    Molecular mass:
    55866 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCZ1B Gene

Post-translational modifications for CCZ1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCZ1B Gene

No data available for DME Specific Peptides for CCZ1B Gene

Domains & Families for CCZ1B Gene

Gene Families for CCZ1B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCZ1B Gene

Suggested Antigen Peptide Sequences for CCZ1B Gene

GenScript: Design optimal peptide antigens:
  • Vacuolar fusion protein CCZ1 homolog-like (CCZ1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CCZ1 family.
  • Belongs to the CCZ1 family.
genes like me logo Genes that share domains with CCZ1B: view

Function for CCZ1B Gene

Phenotypes From GWAS Catalog for CCZ1B Gene

genes like me logo Genes that share phenotypes with CCZ1B: view

miRNA for CCZ1B Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCZ1B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCZ1B Gene

Localization for CCZ1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCZ1B Gene

Lysosome membrane.

Subcellular locations from

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 CCZ1B gene
Compartment Confidence
lysosome 4
endosome 3
cytosol 3
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 CCZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0035658 Mon1-Ccz1 complex IEA --
GO:0043231 intracellular membrane-bounded organelle IBA,IDA --
genes like me logo Genes that share ontologies with CCZ1B: view

Pathways & Interactions for CCZ1B Gene

genes like me logo Genes that share pathways with CCZ1B: view

Pathways by source for CCZ1B Gene

Interacting Proteins for CCZ1B Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 16)
STRING Interaction Network
Selected Interacting proteins: ENSP00000314544 P86790-CCZ1B_HUMAN for CCZ1B Gene via STRING IID

Gene Ontology (GO) - Biological Process for CCZ1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport IEA,IBA 21873635
genes like me logo Genes that share ontologies with CCZ1B: view

No data available for SIGNOR curated interactions for CCZ1B Gene

Drugs & Compounds for CCZ1B Gene

No Compound Related Data Available

Transcripts for CCZ1B Gene

mRNA/cDNA for CCZ1B Gene

8 NCBI additional mRNA sequence :
15 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 CCZ1B

Alternative Splicing Database (ASD) splice patterns (SP) for CCZ1B Gene

No ASD Table

Relevant External Links for CCZ1B Gene

GeneLoc Exon Structure for

Expression for CCZ1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCZ1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCZ1B

SOURCE GeneReport for Unigene cluster for CCZ1B Gene:


Evidence on tissue expression from TISSUES for CCZ1B Gene

  • Skin(4.5)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with CCZ1B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCZ1B Gene

Orthologs for CCZ1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCZ1B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia -- 30
  • 100 (a)
LOC463258 29
  • 99.45 (n)
-- 30
  • 99 (a)
(Monodelphis domestica)
Mammalia -- 30
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 92 (a)
(Canis familiaris)
Mammalia CCZ1 29
  • 91.72 (n)
-- 30
  • 79 (a)
(Bos Taurus)
Mammalia CCZ1 29 30
  • 90.36 (n)
(Rattus norvegicus)
Mammalia Ccz1 29
  • 89.43 (n)
(Mus musculus)
Mammalia Ccz1 29 16 30
  • 89.01 (n)
(Gallus gallus)
Aves CCZ1 29 30
  • 83.33 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 89 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccz1b 29
  • 77.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68831 29
(Danio rerio)
Actinopterygii ccz1 29 30
  • 76.09 (n)
zgc55344 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7054 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006687 29
  • 48.65 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14980 29 30
  • 46 (n)
(Caenorhabditis elegans)
Secernentea ccz-1 29 30
  • 44.47 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G80910 29
  • 43.1 (n)
(Oryza sativa)
Liliopsida Os08g0427300 29
  • 39.17 (n)
Species where no ortholog for CCZ1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 CCZ1B Gene

Gene Tree for CCZ1B (if available)
Gene Tree for CCZ1B (if available)
Evolutionary constrained regions (ECRs) for CCZ1B: view image
Alliance of Genome Resources:
Additional Orthologs for CCZ1B

Paralogs for CCZ1B Gene

Paralogs for CCZ1B Gene

(2) SIMAP similar genes for CCZ1B Gene using alignment to 3 proteins:

  • F5H553_HUMAN
  • F8WD66_HUMAN Pseudogenes for CCZ1B Gene

genes like me logo Genes that share paralogs with CCZ1B: view

Variants for CCZ1B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCZ1B 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 CCZ1B Gene

Variant ID Type Subtype PubMed ID
dgv1864e212 CNV loss 25503493
dgv1865e212 CNV loss 25503493
dgv1866e212 CNV loss 25503493
dgv1867e212 CNV loss 25503493
dgv6244n100 CNV loss 25217958
dgv6245n100 CNV gain 25217958
esv2752174 CNV gain 17911159
esv2759504 CNV loss 17122850
esv2762647 CNV gain 21179565
esv33385 CNV gain 17666407
esv3571605 CNV loss 25503493
esv3576287 CNV gain 25503493
esv3576288 CNV gain 25503493
esv3891033 CNV gain 25118596
nsv1017971 CNV gain 25217958
nsv1023133 CNV gain 25217958
nsv1023478 CNV loss 25217958
nsv1126775 CNV deletion 24896259
nsv1161493 OTHER complex 26073780
nsv441808 CNV gain+loss 18776908
nsv7392 OTHER inversion 18451855
nsv966756 CNV duplication 23825009
nsv966757 CNV duplication 23825009
nsv981430 CNV duplication 23825009

Variation tolerance for CCZ1B Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.83; 86.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCZ1B Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCZ1B Gene

Disorders for CCZ1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCZ1B Gene - From: COP

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 CCZ1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CCZ1B

genes like me logo Genes that share disorders with CCZ1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCZ1B Gene

Publications for CCZ1B Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4

Products for CCZ1B Gene

Sources for CCZ1B Gene