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TMUB1 transmembrane and ubiquitin like domain containing 1 [ Homo sapiens (human) ]

Gene ID: 83590, updated on 27-Nov-2024

Summary

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Official Symbol
TMUB1provided by HGNC
Official Full Name
transmembrane and ubiquitin like domain containing 1provided by HGNC
Primary source
HGNC:HGNC:21709
See related
Ensembl:ENSG00000164897 MIM:614792; AllianceGenome:HGNC:21709
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
DULP; HOPS; SB144; C7orf21
Summary
Involved in ERAD pathway. Predicted to be located in several cellular components, including centrosome; postsynaptic membrane; and recycling endosome. Predicted to be active in postsynaptic recycling endosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in colon (RPKM 10.6), kidney (RPKM 10.4) and 25 other tissues See more
Orthologs
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Genomic context

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See TMUB1 in Genome Data Viewer
Location:
7q36.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151081085..151083493, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152254203..152256611, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150778172..150780580, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128092247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150762350-150763332 Neighboring gene solute carrier family 4 member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150766873-150767373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150772333-150773310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150773311-150774286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150774287-150775262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150776239-150777215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150777216-150778191 Neighboring gene Sharpr-MPRA regulatory region 12172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18799 Neighboring gene Fas activated serine/threonine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26851 Neighboring gene uncharacterized LOC124901778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150786615-150787125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150787126-150787635 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150787761-150788266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150788267-150788772 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150800613-150801520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150805265-150805927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150828941-150829442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150829443-150829942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150833002-150833976 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:150834950-150835923 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:150835924-150836896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150840191-150841150 Neighboring gene gastrulation brain homeobox 1

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. Inhibition of TMUB1 blocks apoptosis and NF-κB pathway-mediated inflammation in recurrent spontaneous abortion. Zhang X, et al. Immun Inflamm Dis, 2023 May. PMID 37249279, Free PMC Article
  2. Cloning and characterization of DULP, a novel ubiquitin-like molecule from human dendritic cells. Liu GY, et al. Cell Mol Immunol, 2009 Feb. PMID 19254477, Free PMC Article
  3. TMUB1 expression is associated with the prognosis of colon cancer and immune cell infiltration. Lu Y, et al. PeerJ, 2023. PMID 38025742, Free PMC Article
  4. TMUB1 Correlated with Immune Infiltration Is a Prognostic Marker for Colorectal Cancer. Hao T, et al. Dis Markers, 2022. PMID 35928927, Free PMC Article
  5. Transmembrane and Ubiquitin-Like Domain Containing 1 Protein (TMUB1) Negatively Regulates Hepatocellular Carcinoma Proliferation via Regulating Signal Transducer and Activator of Transcription 1 (STAT1). Chen Y, et al. Med Sci Monit, 2019 Dec 12. PMID 31827061, Free PMC Article

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TMUB1 expression is associated with the prognosis of colon cancer and immune cell infiltration.
    Title: TMUB1 expression is associated with the prognosis of colon cancer and immune cell infiltration.
  2. Inhibition of TMUB1 blocks apoptosis and NF-kappaB pathway-mediated inflammation in recurrent spontaneous abortion.
    Title: Inhibition of TMUB1 blocks apoptosis and NF-κB pathway-mediated inflammation in recurrent spontaneous abortion.
  3. Promoting anti-tumor immunity by targeting TMUB1 to modulate PD-L1 polyubiquitination and glycosylation.
    Title: Promoting anti-tumor immunity by targeting TMUB1 to modulate PD-L1 polyubiquitination and glycosylation.
  4. TMUB1 Correlated with Immune Infiltration Is a Prognostic Marker for Colorectal Cancer.
    Title: TMUB1 Correlated with Immune Infiltration Is a Prognostic Marker for Colorectal Cancer.
  5. The Ins and Outs of HOPS/TMUB1 in biology and pathology.
    Title: The Ins and Outs of HOPS/TMUB1 in biology and pathology.
  6. TMUB1 promoted the expression of STAT1, and suppressed the expression of CCND1 in HCC cells. TMUB1 negatively regulates hepatocellular carcinoma proliferation via regulating STAT1.
    Title: Transmembrane and Ubiquitin-Like Domain Containing 1 Protein (TMUB1) Negatively Regulates Hepatocellular Carcinoma Proliferation via Regulating Signal Transducer and Activator of Transcription 1 (STAT1).
  7. a novel ubiquitin-like molecule DULP from human dendritic cells was identified.
    Title: Cloning and characterization of DULP, a novel ubiquitin-like molecule from human dendritic cells.
Submit: New GeneRIF Correction

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

  • MGC5442

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 ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in recycling endosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane and ubiquitin-like domain-containing protein 1
Names
dendritic cell-derived ubiquitin-like protein
hepatocyte odd protein shuttling protein
ubiquitin-like protein DULP
ubiquitin-like protein SB144

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_001136044.2 → NP_001129516.1  transmembrane and ubiquitin-like domain-containing protein 1

    See identical proteins and their annotated locations for NP_001129516.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC000936
    Consensus CDS
    CCDS5920.1
    UniProtKB/Swiss-Prot
    D3DX06, Q53AQ2, Q9BVT8
    UniProtKB/TrEMBL
    A0A090N8Q3
    Related
    ENSP00000297533.4, ENST00000297533.9
    Conserved Domains (1) summary
    cd17131
    Location:102 → 172
    Ubl_TMUB1; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 1 (TMUB1)

  2. NM_031434.4 → NP_113622.1  transmembrane and ubiquitin-like domain-containing protein 1

    See identical proteins and their annotated locations for NP_113622.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC000936, BC033182, DA355717
    Consensus CDS
    CCDS5920.1
    UniProtKB/Swiss-Prot
    D3DX06, Q53AQ2, Q9BVT8
    UniProtKB/TrEMBL
    A0A090N8Q3
    Related
    ENSP00000376565.3, ENST00000392818.7
    Conserved Domains (1) summary
    cd17131
    Location:102 → 172
    Ubl_TMUB1; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 1 (TMUB1)

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    151081085..151083493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    152254203..152256611 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVT8.1 GenPept UniProtKB/Swiss-Prot:Q9BVT8

Gene LinkOut

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