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    TVP23B trans-golgi network vesicle protein 23 homolog B [ Homo sapiens (human) ]

    Gene ID: 51030, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TVP23Bprovided by HGNC
    Official Full Name
    trans-golgi network vesicle protein 23 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:20399
    See related
    Ensembl:ENSG00000171928 AllianceGenome:HGNC:20399
    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
    FAM18B; NPD008; CGI-148; FAM18B1; YDR084C
    Summary
    Predicted to be involved in protein secretion and vesicle-mediated transport. Predicted to be located in membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 19.1), adrenal (RPKM 15.3) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See TVP23B in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18781183..18806714)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18727332..18752867)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18684496..18710027)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18601479-18602036 Neighboring gene tripartite motif containing 16 like (pseudogene) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:18621593-18622463 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:18622464-18623334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18624898-18625462 Neighboring gene Sharpr-MPRA regulatory region 2370 Neighboring gene F-box and WD repeat domain containing 10 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:18673855-18674355 Neighboring gene NANOG hESC enhancer GRCh37_chr17:18706781-18707432 Neighboring gene coiled-coil domain-containing protein 144A-like Neighboring gene RNA, 7SL, cytoplasmic 627, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18759295-18759795 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18761223-18761795 Neighboring gene phosphoribosyl pyrophosphate synthetase associated protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11843 Neighboring gene RAN binding protein 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Role of FAM18B in diabetic retinopathy. Wang AL, et al. Mol Vis, 2014. PMID 25221423, Free PMC Article
    2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article
    3. Protein interactome mining defines melatonin MT1 receptors as integral component of presynaptic protein complexes of neurons. Benleulmi-Chaachoua A, et al. J Pineal Res, 2016 Jan. PMID 26514267
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. ER-export and ARFRP1/AP-1-dependent delivery of SARS-CoV-2 Envelope to lysosomes controls late stages of viral replication. Pearson GJ, et al. Sci Adv, 2024 Apr 5. PMID 38569033, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46240

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    Golgi apparatus membrane protein TVP23 homolog B
    Names
    family with sequence similarity 18, member B
    family with sequence similarity 18, member B1
    protein FAM18B1

    NCBI Reference Sequences (RefSeq)

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    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_001316919.1 → NP_001303848.1  Golgi apparatus membrane protein TVP23 homolog B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AC107982, BC008430, BX648167
      Consensus CDS
      CCDS82084.1
      UniProtKB/TrEMBL
      J3QL47, J3QL63
      Related
      ENSP00000463400.2, ENST00000476139.5
      Conserved Domains (1) summary
      pfam05832
      Location:1 → 110
      DUF846; Eukaryotic protein of unknown function (DUF846)

    2. NM_001316920.1 → NP_001303849.1  Golgi apparatus membrane protein TVP23 homolog B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      BC008430, DA067248
      Consensus CDS
      CCDS82084.1
      UniProtKB/TrEMBL
      J3QL47, J3QL63
      Related
      ENSP00000465872.1, ENST00000581733.1
      Conserved Domains (1) summary
      pfam05832
      Location:1 → 110
      DUF846; Eukaryotic protein of unknown function (DUF846)

    3. NM_001316921.2 → NP_001303850.1  Golgi apparatus membrane protein TVP23 homolog B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AC107982, BC008430, CN390782, DB143840
      Consensus CDS
      CCDS82084.1
      UniProtKB/TrEMBL
      J3QL47, J3QL63
      Related
      ENSP00000467001.1, ENST00000575261.5
      Conserved Domains (1) summary
      pfam05832
      Location:1 → 110
      DUF846; Eukaryotic protein of unknown function (DUF846)

    4. NM_001316922.2 → NP_001303851.1  Golgi apparatus membrane protein TVP23 homolog B isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 5 and 6 both encode the same isoform (c).
      Source sequence(s)
      AC107982, BC008430, BQ433266, DB143840
      UniProtKB/TrEMBL
      J3QL47
      Conserved Domains (1) summary
      pfam05832
      Location:1 → 88
      DUF846; Eukaryotic protein of unknown function (DUF846)

    5. NM_001316923.2 → NP_001303852.1  Golgi apparatus membrane protein TVP23 homolog B isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 5 and 6 both encode the same isoform (c).
      Source sequence(s)
      AC107982, BC008430, DA773045, DB143840
      UniProtKB/TrEMBL
      J3QL47
      Conserved Domains (1) summary
      pfam05832
      Location:1 → 88
      DUF846; Eukaryotic protein of unknown function (DUF846)

    6. NM_001316924.2 → NP_001303853.1  Golgi apparatus membrane protein TVP23 homolog B isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an exon in place of the last two exons compared to variant 1. The resulting isoform (d) is shorter at the C-terminus compared to isoform a.
      Source sequence(s)
      AC107982, DA551966, DB143840
      UniProtKB/Swiss-Prot
      Q9NYZ1
      Conserved Domains (1) summary
      pfam05832
      Location:32 → 154
      DUF846; Eukaryotic protein of unknown function (DUF846)

    7. NM_016078.6 → NP_057162.4  Golgi apparatus membrane protein TVP23 homolog B isoform a

      See identical proteins and their annotated locations for NP_057162.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC107982, BC008430, DB143840
      Consensus CDS
      CCDS42274.1
      UniProtKB/Swiss-Prot
      A8K448, Q96HK5, Q9NYZ1, Q9Y3E6
      UniProtKB/TrEMBL
      C9JYS5
      Related
      ENSP00000305654.8, ENST00000307767.13
      Conserved Domains (1) summary
      pfam05832
      Location:32 → 174
      DUF846; Eukaryotic protein of unknown function (DUF846)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18781183..18806714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436194.1 → XP_047292150.1  Golgi apparatus membrane protein TVP23 homolog B isoform X1

      UniProtKB/TrEMBL
      J3QL47

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18727332..18752867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316340.1 → XP_054172315.1  Golgi apparatus membrane protein TVP23 homolog B isoform X1

      UniProtKB/TrEMBL
      J3QL47
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYZ1.2 GenPept UniProtKB/Swiss-Prot:Q9NYZ1

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