U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 7050, updated on 5-May-2024

    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; AllianceGenome:HGNC:11776
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TGIF1 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3412009..3459978)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3571386..3619443)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3412007..3459976)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr18:3394905-3395126 Neighboring gene uncharacterized LOC124904374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3425706-3426206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3426207-3426707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:3433772-3434272 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:3434707-3434917 Neighboring gene immunoglobulin lambda joining-constant/OR18 (pseudogene) Neighboring gene uncharacterized LOC124904237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9254 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3448381-3449002 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3449003-3449622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3452109-3452730 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3451487-3452108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9256 Neighboring gene ribosomal protein L21 pseudogene 127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9255 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:3452731-3453350 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:3455215-3455834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3457616-3458176 Neighboring gene uncharacterized LOC105371965 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:3466751-3467438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:3469136-3469926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13048 Neighboring gene biorientation of chromosomes in cell division 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 485 Neighboring gene gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:3554877-3555427 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
    Holoprosencephaly 4
    MedGen: C1840528 OMIM: 142946 GeneReviews: Holoprosencephaly Overview
    Compare labs

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC5066, FLJ97178, MGC39747

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of 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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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)

    NEW Try the new Transcript table

    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
      43099..52905
      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/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      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
      Consensus CDS
      CCDS11835.1
      UniProtKB/TrEMBL
      F8VVS9
      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
      Consensus CDS
      CCDS11835.1
      UniProtKB/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      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
      CCDS11835.1
      UniProtKB/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      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/TrEMBL
      F8VVS9
      Related
      ENSP00000385206.1, ENST00000401449.5
      Conserved Domains (1) summary
      pfam05920
      Location:3372
      Homeobox_KN; Homeobox KN domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      3571386..3619443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)