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    CCZ1B CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated [ Homo sapiens (human) ]

    Gene ID: 221960, updated on 27-Nov-2024

    Summary

    Official Symbol
    CCZ1Bprovided by HGNC
    Official Full Name
    CCZ1 homolog B, vacuolar protein trafficking and biogenesis associatedprovided by HGNC
    Primary source
    HGNC:HGNC:21717
    See related
    Ensembl:ENSG00000146574 AllianceGenome:HGNC:21717
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCZ1; C7orf28A; C7orf28B; H_NH0577018.2
    Summary
    Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 39.8), urinary bladder (RPKM 33.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CCZ1B in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6798937..6826275, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6918130..6945461, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6838568..6865906, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS2 C-terminal like (pseudogene) Neighboring gene radial spoke head 10 homolog B2 Neighboring gene Sharpr-MPRA regulatory region 9278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6881945-6882446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6882447-6882946 Neighboring gene olfactory receptor family 7 subfamily E member 39 pseudogene Neighboring gene unc-93 homolog B2 (pseudogene)

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (CCZ1B) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ60592, MGC19819, DKFZp586I1023

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of Mon1-Ccz1 complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    vacuolar fusion protein CCZ1 homolog B
    Names
    CCZ1 homolog, vacuolar protein trafficking and biogenesis associated B
    CCZ1 vacuolar protein trafficking and biogenesis associated B
    CCZ1 vacuolar protein trafficking and biogenesis associated homolog B
    H_DJ1163J12.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_198097.5NP_932765.1  vacuolar fusion protein CCZ1 homolog B

      See identical proteins and their annotated locations for NP_932765.1

      Status: VALIDATED

      Source sequence(s)
      AC079882
      Consensus CDS
      CCDS5354.1
      UniProtKB/Swiss-Prot
      A2RU45, O95766, P86790, P86791, Q9UG65, Q9Y359
      UniProtKB/TrEMBL
      Q7L8P3
      Related
      ENSP00000314544.8, ENST00000316731.13
      Conserved Domains (1) summary
      pfam08217
      Location:27479
      DUF1712; Fungal domain of unknown function (DUF1712)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6798937..6826275 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6918130..6945461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357558.1XP_054213533.1  vacuolar fusion protein CCZ1 homolog B isoform X1