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

Gene ID: 388364, updated on 21-Dec-2019

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
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
Expression
Biased expression in small intestine (RPKM 67.8) and colon (RPKM 47.6) See more
Orthologs

Genomic context

See TMIGD1 in Genome Data Viewer
Location:
17q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (30316329..30334076, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (28643351..28661065, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene bleomycin hydrolase Neighboring gene RNA, U6 small nuclear 1267, pseudogene 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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of membrane permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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
    Related
    ENSP00000332404.4, ENST00000328886.5
    Conserved Domains (1) summary
    smart00409
    Location:131212
    IG; Immunoglobulin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    30316329..30334076 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524787.1XP_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
    Conserved Domains (1) summary
    smart00409
    Location:131212
    IG; Immunoglobulin
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