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

Gene ID: 388364, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in small intestine (RPKM 67.8) and colon (RPKM 47.6) See more
Orthologs
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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: 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. 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)

Genotypes

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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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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