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    TULP3 TUB like protein 3 [ Homo sapiens (human) ]

    Gene ID: 7289, updated on 17-Jun-2024

    Summary

    Official Symbol
    TULP3provided by HGNC
    Official Full Name
    TUB like protein 3provided by HGNC
    Primary source
    HGNC:HGNC:12425
    See related
    Ensembl:ENSG00000078246 MIM:604730; AllianceGenome:HGNC:12425
    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
    HRCDF; TUBL3
    Summary
    This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
    Expression
    Ubiquitous expression in ovary (RPKM 20.1), endometrium (RPKM 13.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TULP3 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (2890891..2941138)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (2896833..2947229)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (3000057..3050304)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene integrin alpha FG-GAP repeat containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:2988229-2989182 Neighboring gene forkhead box M1 Neighboring gene uncharacterized LOC124902860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4136 Neighboring gene RAD9-HUS1-RAD1 interacting nuclear orphan 1 Neighboring gene Sharpr-MPRA regulatory region 7040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:3032139-3032645 Neighboring gene U7 small nuclear RNA Neighboring gene uncharacterized LOC124902859 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:3068733-3069468 Neighboring gene RNA, U6 small nuclear 1315, pseudogene Neighboring gene TEA domain transcription factor 4

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with tubby like protein 3 (TULP3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC45295

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bronchus morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic neurocranium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ganglion development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein localization to cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to cilium IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within regulation of G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axoneme IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    tubby-related protein 3
    Names
    tubby like protein 3

    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.

    mRNA and Protein(s)

    1. NM_001160408.2NP_001153880.1  tubby-related protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC005911, AK024246, BP392987
      Consensus CDS
      CCDS53737.1
      UniProtKB/Swiss-Prot
      O75386
      Related
      ENSP00000380321.2, ENST00000397132.6
      Conserved Domains (2) summary
      pfam01167
      Location:195435
      Tub; Tub family
      pfam16322
      Location:31169
      Tub_N; Tubby N-terminal
    2. NM_003324.5NP_003315.2  tubby-related protein 3 isoform 1

      See identical proteins and their annotated locations for NP_003315.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).
      Source sequence(s)
      AK024246, AK293285, BC032587
      Consensus CDS
      CCDS8519.1
      UniProtKB/Swiss-Prot
      B3KNB7, B7Z6A2, D3DUQ4, F8WBZ9, O75386, Q8N5B0
      Related
      ENSP00000410051.2, ENST00000448120.7
      Conserved Domains (2) summary
      pfam01167
      Location:195435
      Tub; Tub family
      pfam16322
      Location:31169
      Tub_N; Tubby N-terminal

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      2890891..2941138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      2896833..2947229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)