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TBC1D28 TBC1 domain family member 28 [ Homo sapiens (human) ]

Gene ID: 254272, updated on 28-Oct-2024

Summary

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Official Symbol
TBC1D28provided by HGNC
Official Full Name
TBC1 domain family member 28provided by HGNC
Primary source
HGNC:HGNC:26858
See related
Ensembl:ENSG00000189375 AllianceGenome:HGNC:26858
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
Expression
Restricted expression toward testis (RPKM 3.9) See more
Orthologs
all
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Genomic context

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See TBC1D28 in Genome Data Viewer
Location:
17p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18634247..18644391, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18581077..18591222, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18537560..18547704, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 144B, pseudogene Neighboring gene ribosomal protein S28 pseudogene 9 Neighboring gene uncharacterized LOC107985051 Neighboring gene Sharpr-MPRA regulatory region 6133 Neighboring gene uncharacterized LOC124903945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18548171-18548672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18553597-18554097 Neighboring gene PAIP1 pseudogene 2 Neighboring gene zinc finger protein 286B (pseudogene) Neighboring gene forkhead box O3B Neighboring gene ubiquitin conjugating enzyme E2 S pseudogene 2

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 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. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) 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

Clone Names

  • FLJ40244, MGC138217, MGC138221

General protein information

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Preferred Names
TBC1 domain family member 28

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_001039397.3 → NP_001034486.2  TBC1 domain family member 28

    See identical proteins and their annotated locations for NP_001034486.2

    Status: VALIDATED

    Source sequence(s)
    AC026271
    Consensus CDS
    CCDS42273.1
    UniProtKB/Swiss-Prot
    Q2M2D7, Q2M2E1
    Related
    ENSP00000385821.1, ENST00000405044.7
    Conserved Domains (1) summary
    cl02495
    Location:102 → 182
    RabGAP-TBC; Rab-GTPase-TBC domain

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
    18634247..18644391 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024419.3 → XP_016879908.1  TBC1 domain family member 28 isoform X1

  2. XM_017024423.2 → XP_016879912.1  TBC1 domain family member 28 isoform X4

  3. XM_017024416.3 → XP_016879905.1  TBC1 domain family member 28 isoform X1

  4. XM_017024421.3 → XP_016879910.1  TBC1 domain family member 28 isoform X1

  5. XM_017024417.3 → XP_016879906.1  TBC1 domain family member 28 isoform X1

  6. XM_017024420.2 → XP_016879909.1  TBC1 domain family member 28 isoform X1

  7. XM_017024418.3 → XP_016879907.1  TBC1 domain family member 28 isoform X1

  8. XM_047435718.1 → XP_047291674.1  TBC1 domain family member 28 isoform X3

  9. XM_017024422.2 → XP_016879911.1  TBC1 domain family member 28 isoform X2

  10. XM_011523783.4 → XP_011522085.1  TBC1 domain family member 28 isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:143 → 223
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    18581077..18591222 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315647.1 → XP_054171622.1  TBC1 domain family member 28 isoform X1

  2. XM_054315652.1 → XP_054171627.1  TBC1 domain family member 28 isoform X4

  3. XM_054315650.1 → XP_054171625.1  TBC1 domain family member 28 isoform X2

  4. XM_054315644.1 → XP_054171619.1  TBC1 domain family member 28 isoform X1

  5. XM_054315649.1 → XP_054171624.1  TBC1 domain family member 28 isoform X1

  6. XM_054315646.1 → XP_054171621.1  TBC1 domain family member 28 isoform X1

  7. XM_054315648.1 → XP_054171623.1  TBC1 domain family member 28 isoform X1

  8. XM_054315645.1 → XP_054171620.1  TBC1 domain family member 28 isoform X1

  9. XM_054315651.1 → XP_054171626.1  TBC1 domain family member 28 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2M2D7.1 GenPept UniProtKB/Swiss-Prot:Q2M2D7

Gene LinkOut

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