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Tulp1 Gene Detail
Summary
  • Symbol
    Tulp1
  • Name
    tubby like protein 1
  • Synonyms
    Tulp1l
  • Feature Type
    protein coding gene
  • IDs
    MGI:109571
    NCBI Gene: 22157
  • Gene Overview
    MyGene.info: TULP1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr17:28351515-28365182 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      13668 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 14.66 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    TULP1, tubby like protein 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TULP1, tubby like protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LCA15, RP14, TUBL1
  • Links
    NCBI Gene ID: 7287
    neXtProt AC: NX_O00294
    UniProt: O00294

  • Chr Location
    6p21.31; chr6:35497874-35512902 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Tulp1 mouse models; 2 with human TULP1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 2 genetic backgrounds
    4 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutant mice exhibit retinal degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    17
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    12
  • Tissues
    12
  • cDNA Data
    57
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000024252 VEGA Gene Model | MGI Sequence Detail 13668 C57BL/6J ±  kb
    transcript OTTMUST00000059359 VEGA | MGI Sequence Detail 2017 Not Applicable  
    polypeptide OTTMUSP00000028868 VEGA | MGI Sequence Detail 543 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      31 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • InterPro Domains
      IPR000007 Tubby, C-terminal
      IPR018066 Tubby, C-terminal, conserved site
      IPR025659 Tubby-like, C-terminal
    Molecular
    Reagents
    less
    • All nucleic 58
      cDNA 58

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-39570
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 17
      Phenotypes 19
    • Earliest
      J:39282 North MA, et al., Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3128-33
    • Latest
      J:231600 Wahl S, et al., The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses. J Neurosci. 2016 Feb 24;36(8):2473-93
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    07/31/2018
    MGI 6.12     		The Jackson Laboratory