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

Gene ID: 7289, updated on 17-Jun-2019

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
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
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

Genomic context

See TULP3 in Genome Data Viewer
Location:
12p13.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (2890891..2941138)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (3000033..3050306)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene integrin alpha FG-GAP repeat containing 2 Neighboring gene testis expressed 52 Neighboring gene forkhead box M1 Neighboring gene RAD9-HUS1-RAD1 interacting nuclear orphan 1 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 FunctionsWhat'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 BioSystems

  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45295

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
intraciliary transport particle A binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
bone development IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
bronchus morphogenesis IEA
Inferred from Electronic Annotation
more info
 
central nervous system neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
embryonic camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic neurocranium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ganglion development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smoothened signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
protein localization to cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to cilium IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of G protein-coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
9+0 non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
axoneme IEA
Inferred from Electronic Annotation
more info
 
ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cilium TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    O75386
    UniProtKB/TrEMBL
    B7Z1E7
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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