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

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of TMIGD1 as a Tumor Suppressor in Colorectal Cancer.
Title: The Role of TMIGD1 as a Tumor Suppressor in Colorectal Cancer.
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.
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.
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.
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.

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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

G17979 (e-PCR)
- UniSTS:45870

RH92740 (e-PCR)
- UniSTS:90562

G63633 (e-PCR)
- UniSTS:140744

AFMA184ZD9 (e-PCR)
- UniSTS:28631

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)

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
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