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    TVP23A trans-golgi network vesicle protein 23 homolog A [ Homo sapiens (human) ]

    Gene ID: 780776, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TVP23Aprovided by HGNC
    Official Full Name
    trans-golgi network vesicle protein 23 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:20398
    See related
    Ensembl:ENSG00000166676 AllianceGenome:HGNC:20398
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM18A; YDR084C
    Summary
    This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in brain (RPKM 1.6), lymph node (RPKM 1.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TVP23A in Genome Data Viewer
    Location:
    16p13.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (10757318..10818794, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (10796831..10854673, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (10854769..10912651, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MT-ATP6 pseudogene 24 Neighboring gene MT-CO3 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10386 Neighboring gene NUBP iron-sulfur cluster assembly factor 1, cytosolic Neighboring gene NANOG hESC enhancer GRCh37_chr16:10883659-10884197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:10932437-10932956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10391 Neighboring gene Rho GTPase activating protein 21 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:10964767-10965966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10398 Neighboring gene class II major histocompatibility complex transactivator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7195 Neighboring gene Dexi homolog

    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. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
    2. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article
    3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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

    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 A
    Names
    family with sequence similarity 18, member A
    protein FAM18A

    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_001079512.4 → NP_001072980.1  Golgi apparatus membrane protein TVP23 homolog A isoform 1

      See identical proteins and their annotated locations for NP_001072980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC074136, AK294418, AL833564, DA248626
      Consensus CDS
      CCDS45408.1
      UniProtKB/Swiss-Prot
      A6NH52, B2RUV4, B7ZW18
      Related
      ENSP00000299866.8, ENST00000299866.13
      Conserved Domains (1) summary
      pfam05832
      Location:30 → 171
      DUF846; Eukaryotic protein of unknown function (DUF846)

    2. NM_001318873.2 → NP_001305802.1  Golgi apparatus membrane protein TVP23 homolog A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC074136, AK124106, AL833564, DA248626
      UniProtKB/TrEMBL
      I3L3Y3
      Conserved Domains (1) summary
      pfam05832
      Location:1 → 107
      DUF846; Eukaryotic protein of unknown function (DUF846)

    RNA

    1. NR_134901.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' region and has an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC074136, BC050569, BC171819, DA248626

    2. NR_134902.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC074136, BC050569, BC146886, DA248626

    3. NR_134903.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an internal exon, contains a alternate internal exon and uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC074136, BC050569, BC171816, DA248626
      Related
      ENST00000572980.5

    4. NR_134904.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an internal exon, contains an additional alternate internal exon and uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC074136, BC050569, BC171807, BC171817, DA248626

    5. NR_134905.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an internal exon and uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC074136, BC050569, BC171816, DA248626

    6. NR_134906.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an internal exon and contains an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC074136, BC050569, BC171807, DA248626

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      10757318..10818794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434604.1 → XP_047290560.1  Golgi apparatus membrane protein TVP23 homolog A isoform X1

      UniProtKB/Swiss-Prot
      A6NH52, B2RUV4, B7ZW18

    2. XM_017023651.3 → XP_016879140.1  Golgi apparatus membrane protein TVP23 homolog A isoform X2

      UniProtKB/TrEMBL
      I3L3Y3
      Related
      ENSP00000460822.1, ENST00000572428.5
      Conserved Domains (1) summary
      pfam05832
      Location:1 → 107
      DUF846; Eukaryotic protein of unknown function (DUF846)

    3. XM_011522654.4 → XP_011520956.1  Golgi apparatus membrane protein TVP23 homolog A isoform X1

      See identical proteins and their annotated locations for XP_011520956.1

      UniProtKB/Swiss-Prot
      A6NH52, B2RUV4, B7ZW18
      Related
      ENSP00000460567.1, ENST00000575135.5
      Conserved Domains (1) summary
      pfam05832
      Location:30 → 171
      DUF846; Eukaryotic protein of unknown function (DUF846)

    RNA

    1. XR_001751978.2 RNA Sequence

    2. XR_007064910.1 RNA Sequence

    3. XR_007064909.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      10796831..10854673 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313876.1 → XP_054169851.1  Golgi apparatus membrane protein TVP23 homolog A isoform X1

      UniProtKB/Swiss-Prot
      A6NH52, B2RUV4, B7ZW18

    2. XM_054313878.1 → XP_054169853.1  Golgi apparatus membrane protein TVP23 homolog A isoform X2

    3. XM_054313881.1 → XP_054169856.1  Golgi apparatus membrane protein TVP23 homolog A isoform X2

    4. XM_054313877.1 → XP_054169852.1  Golgi apparatus membrane protein TVP23 homolog A isoform X2

    5. XM_054313879.1 → XP_054169854.1  Golgi apparatus membrane protein TVP23 homolog A isoform X2

    6. XM_054313880.1 → XP_054169855.1  Golgi apparatus membrane protein TVP23 homolog A isoform X2

    7. XM_054313875.1 → XP_054169850.1  Golgi apparatus membrane protein TVP23 homolog A isoform X1

      UniProtKB/Swiss-Prot
      A6NH52, B2RUV4, B7ZW18

    RNA

    1. XR_008484735.1 RNA Sequence

    2. XR_008484734.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NH52.3 GenPept UniProtKB/Swiss-Prot:A6NH52

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