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    TMIGD1 transmembrane and immunoglobulin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 388364, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMIGD1provided by HGNC
    Official Full Name
    transmembrane and immunoglobulin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:32431
    See related
    Ensembl:ENSG00000182271 AllianceGenome:HGNC:32431
    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
    TMIGD; UNQ9372
    Summary
    Predicted to enable cell-cell adhesion mediator activity and protein homodimerization activity. Involved in several processes, including negative regulation of apoptotic process; regulation of cell migration; and regulation of membrane permeability. Located in cytosol; mitochondrion; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in small intestine (RPKM 67.8) and colon (RPKM 47.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See TMIGD1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30316333..30334057, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31260907..31278667, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (28643351..28661075, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903971 Neighboring gene uncharacterized LOC105371721 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:28667189-28667899 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:28667900-28668609 Neighboring gene Sharpr-MPRA regulatory region 7119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:28672567-28673066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11994 Neighboring gene RNA, U6 small nuclear 990, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11997 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28705846-28706773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28715045-28715730 Neighboring gene Sharpr-MPRA regulatory region 2970 Neighboring gene carboxypeptidase D Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:28732022-28732693

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The Role of TMIGD1 as a Tumor Suppressor in Colorectal Cancer. Mu L, et al. Genet Test Mol Biomarkers, 2022 Apr. PMID 35481970
    2. Transcriptomic identification of TMIGD1 and its relationship with the ileal epithelial cell differentiation in Crohn's disease. Zabana Y, et al. Am J Physiol Gastrointest Liver Physiol, 2020 Aug 1. PMID 32508154
    3. The mitochondrial outer membrane protein SYNJ2BP interacts with the cell adhesion molecule TMIGD1 and can recruit it to mitochondria. Hartmann C, et al. BMC Mol Cell Biol, 2020 Apr 17. PMID 32303178, Free PMC Article
    4. TMIGD1 is a novel adhesion molecule that protects epithelial cells from oxidative cell injury. Arafa E, et al. Am J Pathol, 2015 Oct. PMID 26342724, Free PMC Article
    5. Decreased TMIGD1 aggravates colitis and intestinal barrier dysfunction via the BANF1-NF-κB pathway in Crohn's disease. Zhou L, et al. BMC Med, 2023 Aug 4. PMID 37542259, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Role of TMIGD1 as a Tumor Suppressor in Colorectal Cancer.
      Title: The Role of TMIGD1 as a Tumor Suppressor in Colorectal Cancer.
    2. Transmembrane and Immunoglobulin Domain Containing 1, a Putative Tumor Suppressor, Induces G2/M Cell Cycle Checkpoint Arrest in Colon Cancer Cells.
      Title: Transmembrane and Immunoglobulin Domain Containing 1, a Putative Tumor Suppressor, Induces G2/M Cell Cycle Checkpoint Arrest in Colon Cancer Cells.
    3. The mitochondrial outer membrane protein SYNJ2BP interacts with the cell adhesion molecule TMIGD1 and can recruit it to mitochondria.
      Title: The mitochondrial outer membrane protein SYNJ2BP interacts with the cell adhesion molecule TMIGD1 and can recruit it to mitochondria.
    4. Transcriptomic identification of TMIGD1 and its relationship with the ileal epithelial cell differentiation in Crohn's disease.
      Title: Transcriptomic identification of TMIGD1 and its relationship with the ileal epithelial cell differentiation in Crohn's disease.
    5. identified TMIGD1 as a novel cell adhesion molecule expressed in kidney epithelial cells that protects kidney epithelial cells from oxidative cell injury to promote cell survival
      Title: TMIGD1 is a novel adhesion molecule that protects epithelial cells from oxidative cell injury.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cell-cell adhesion mediator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in brush border assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell aggregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell junction organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intestinal epithelial cell maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of membrane permeability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane and immunoglobulin domain-containing protein 1
    Names
    AWKS9372

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001319942.2 → NP_001306871.1  transmembrane and immunoglobulin domain-containing protein 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC087644, AK172838
      Consensus CDS
      CCDS82099.1
      UniProtKB/Swiss-Prot
      Q6UXZ0
      Related
      ENSP00000446118.2, ENST00000538566.6
      Conserved Domains (2) summary
      cd00096
      Location:139 → 209
      Ig; Immunoglobulin domain
      smart00410
      Location:131 → 212
      IG_like; Immunoglobulin like

    2. NM_206832.3 → NP_996663.1  transmembrane and immunoglobulin domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_996663.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC087644
      Consensus CDS
      CCDS32605.1
      UniProtKB/Swiss-Prot
      A8K2K1, Q6UXZ0, Q6ZMC6
      Related
      ENSP00000332404.4, ENST00000328886.5
      Conserved Domains (1) summary
      smart00409
      Location:131 → 212
      IG; Immunoglobulin

    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
      30316333..30334057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524787.2 → XP_011523089.1  transmembrane and immunoglobulin domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011523089.1

      UniProtKB/Swiss-Prot
      A8K2K1, Q6UXZ0, Q6ZMC6
      Conserved Domains (1) summary
      smart00409
      Location:131 → 212
      IG; Immunoglobulin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      31260907..31278667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316036.1 → XP_054172011.1  transmembrane and immunoglobulin domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K2K1, Q6UXZ0, Q6ZMC6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXZ0.1 GenPept UniProtKB/Swiss-Prot:Q6UXZ0

    Gene LinkOut

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

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