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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
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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutant mice exhibit retinal degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    18
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
    56
  • Literature Summary
    1
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
Molecular
Reagents
less
  • All nucleic 57
    cDNA 57

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-39570
References
more
  • Summaries
    All 44
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 18
    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
06/20/2017
MGI 6.10 		The Jackson Laboratory