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

Gene ID: 51030, updated on 11-Apr-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 integral component of membrane. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
17p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18781183..18806714)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18727332..18752867)
105.20220307 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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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

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
  
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 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_2023_10

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

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

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

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