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TGIF1 TGFB induced factor homeobox 1 [ Homo sapiens (human) ]

Gene ID: 7050, updated on 22-Aug-2021

Summary

Official Symbol
TGIF1provided by HGNC
Official Full Name
TGFB induced factor homeobox 1provided by HGNC
Primary source
HGNC:HGNC:11776
See related
Ensembl:ENSG00000177426 MIM:602630
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPE4; TGIF
Summary
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in urinary bladder (RPKM 9.0), gall bladder (RPKM 8.7) and 25 other tissues See more
Orthologs
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Genomic context

See TGIF1 in Genome Data Viewer
Location:
18p11.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (3412009..3459978)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3412007..3459976)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda joining-constant/OR18 (pseudogene) Neighboring gene ribosomal protein L21 pseudogene 127 Neighboring gene uncharacterized LOC105371965 Neighboring gene biorientation of chromosomes in cell division 1 pseudogene 1 Neighboring gene gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA Neighboring gene DLG associated protein 1 Neighboring gene RNA, 7SL, cytoplasmic 39, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available
Holoprosencephaly 4
MedGen: C1840528 OMIM: 142946 GeneReviews: Holoprosencephaly Overview
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-05-10)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5066, FLJ97178, MGC39747

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
homeobox protein TGIF1
Names
5'-TG-3'-interacting factor 1
TALE homeobox TG-interacting factor
transforming growth factor-beta-induced factor

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.

Genomic

  1. NG_007447.2 RefSeqGene

    Range
    44520..52907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278682.2NP_001265611.1  homeobox protein TGIF1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AP001025
    UniProtKB/Swiss-Prot
    Q15583
    Conserved Domains (1) summary
    pfam05920
    Location:5695
    Homeobox_KN; Homeobox KN domain
  2. NM_001278684.2NP_001265613.1  homeobox protein TGIF1 isoform c

    See identical proteins and their annotated locations for NP_001265613.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11833.1
    UniProtKB/Swiss-Prot
    Q15583
    Conserved Domains (1) summary
    pfam05920
    Location:5392
    Homeobox_KN; Homeobox KN domain
  3. NM_001278686.3NP_001265615.1  homeobox protein TGIF1 isoform d

    See identical proteins and their annotated locations for NP_001265615.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11835.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000447747.2, ENST00000548489.6
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain
  4. NM_001374396.1NP_001361325.1  homeobox protein TGIF1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Related
    ENSP00000448121.1, ENST00000549780.5
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain
  5. NM_001374397.1NP_001361326.1  homeobox protein TGIF1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Related
    ENSP00000343969.5, ENST00000345133.9
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain
  6. NM_003244.4NP_003235.1  homeobox protein TGIF1 isoform c

    See identical proteins and their annotated locations for NP_003235.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11833.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000339631.6, ENST00000343820.10
    Conserved Domains (1) summary
    pfam05920
    Location:5392
    Homeobox_KN; Homeobox KN domain
  7. NM_170695.5NP_733796.3  homeobox protein TGIF1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11834.1
    Related
    ENSP00000327959.6, ENST00000330513.10
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain
  8. NM_173207.4NP_775299.1  homeobox protein TGIF1 isoform b

    See identical proteins and their annotated locations for NP_775299.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11832.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000483499.1, ENST00000618001.4
    Conserved Domains (1) summary
    pfam05920
    Location:67106
    Homeobox_KN; Homeobox KN domain
  9. NM_173208.3NP_775300.1  homeobox protein TGIF1 isoform c

    See identical proteins and their annotated locations for NP_775300.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11833.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000384133.2, ENST00000407501.6
    Conserved Domains (1) summary
    pfam05920
    Location:5392
    Homeobox_KN; Homeobox KN domain
  10. NM_173209.3NP_775301.1  homeobox protein TGIF1 isoform d

    See identical proteins and their annotated locations for NP_775301.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11835.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000384970.2, ENST00000405385.7
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain
  11. NM_173210.4NP_775302.1  homeobox protein TGIF1 isoform d

    See identical proteins and their annotated locations for NP_775302.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11835.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000450025.1, ENST00000551541.5
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain
  12. NM_173211.2NP_775303.1  homeobox protein TGIF1 isoform d

    See identical proteins and their annotated locations for NP_775303.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11835.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000383031.2, ENST00000400167.6
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain
  13. NM_174886.3NP_777480.1  homeobox protein TGIF1 isoform d

    See identical proteins and their annotated locations for NP_777480.1

    Status: REVIEWED

    Source sequence(s)
    AP001025
    Consensus CDS
    CCDS11835.1
    UniProtKB/Swiss-Prot
    Q15583
    Related
    ENSP00000385206.1, ENST00000401449.5
    Conserved Domains (1) summary
    pfam05920
    Location:3372
    Homeobox_KN; Homeobox KN domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    3412009..3459978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025958.1XP_016881447.1  homeobox protein TGIF1 isoform X1

    UniProtKB/Swiss-Prot
    Q15583
    Conserved Domains (1) summary
    pfam05920
    Location:5392
    Homeobox_KN; Homeobox KN domain
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