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

    Gene ID: 83590, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in colon (RPKM 10.6), kidney (RPKM 10.4) and 25 other tissues See more
    Orthologs
    mouse all
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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. 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
    2. 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
    3. TMUB1 Correlated with Immune Infiltration Is a Prognostic Marker for Colorectal Cancer. Hao T, et al. Dis Markers, 2022. PMID 35928927, Free PMC Article
    4. 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
    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 (48) 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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