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

Gene ID: 780776, updated on 17-May-2023

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
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (10757318..10818794, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (10796831..10854673, complement)
105.20220307 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 NUBP iron-sulfur cluster assembly factor 1, cytosolic Neighboring gene NANOG hESC enhancer GRCh37_chr16:10883659-10884197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:10932437-10932956 Neighboring gene Rho GTPase activating protein 21 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. 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)

Genotypes

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
 PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
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, 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 precursor

    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
    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_2023_03

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
    B7ZW18

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

    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, 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
    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
    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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