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

Gene ID: 388364, updated on 22-Sep-2022

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
Involved in several processes, including negative regulation of apoptotic process; regulation of cell migration; and regulation of membrane permeability. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in small intestine (RPKM 67.8) and colon (RPKM 47.6) See more
Orthologs
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Genomic context

See TMIGD1 in Genome Data Viewer
Location:
17q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30316333..30334057, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31260907..31278667, complement)
105.20220307 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 RNA, U6 small nuclear 990, pseudogene Neighboring gene carboxypeptidase D

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001319942.2NP_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:139209
    Ig; Immunoglobulin domain
    smart00410
    Location:131212
    IG_like; Immunoglobulin like
  2. NM_206832.3NP_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
    Q6UXZ0, Q6ZMC6
    Related
    ENSP00000332404.4, ENST00000328886.5
    Conserved Domains (1) summary
    smart00409
    Location:131212
    IG; Immunoglobulin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011524787.2XP_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
    Q6UXZ0, Q6ZMC6
    Conserved Domains (1) summary
    smart00409
    Location:131212
    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)