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Tulp1 TUB like protein 1 [ Mus musculus (house mouse) ]

Gene ID: 22157, updated on 18-Apr-2024

Summary

Official Symbol
Tulp1provided by MGI
Official Full Name
TUB like protein 1provided by MGI
Primary source
MGI:MGI:109571
See related
Ensembl:ENSMUSG00000037446 AllianceGenome:MGI:109571
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tulp1l
Summary
Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in dendrite development; eye photoreceptor cell development; and photoreceptor cell maintenance. Acts upstream of or within phagocytosis, recognition; protein localization to photoreceptor outer segment; and retina development in camera-type eye. Located in several cellular components, including axon terminus; photoreceptor inner segment; and photoreceptor outer segment. Used to study retinitis pigmentosa 14. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 15; retinitis pigmentosa; and retinitis pigmentosa 14. Orthologous to human TULP1 (TUB like protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in placenta adult (RPKM 2.3), lung adult (RPKM 1.4) and 10 other tissues See more
Orthologs
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Genomic context

Location:
17 A3.3; 17 14.66 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (28570489..28584190, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (28351515..28365216, complement)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10A Neighboring gene TEA domain family member 3 Neighboring gene STARR-seq mESC enhancer starr_42209 Neighboring gene STARR-seq mESC enhancer starr_42210 Neighboring gene FK506 binding protein 5 Neighboring gene predicted gene, 22146 Neighboring gene RIKEN cDNA E230001N04 gene Neighboring gene STARR-positive B cell enhancer ABC_E10942

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Chemically induced (ENU) (1)  1 citation
  • Spontaneous (1) 
  • Targeted (1)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables actin filament binding ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidylinositol-4,5-bisphosphate binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in dendrite development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in detection of light stimulus involved in visual perception ISO
Inferred from Sequence Orthology
more info
 
involved_in eye photoreceptor cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phagocytosis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within phagocytosis, recognition IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within phagocytosis, recognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of phagocytosis ISO
Inferred from Sequence Orthology
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 photoreceptor outer segment IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retina homeostasis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in axon terminus IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection ISO
Inferred from Sequence Orthology
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tubby-related protein 1
Names
tubby like protein 1 like
tubby-like protein 1

NCBI Reference Sequences (RefSeq)

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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_021478.2NP_067453.1  tubby-related protein 1

    See identical proteins and their annotated locations for NP_067453.1

    Status: VALIDATED

    Source sequence(s)
    AC154912, CT025652
    Consensus CDS
    CCDS28578.1
    UniProtKB/Swiss-Prot
    Q9Z273
    UniProtKB/TrEMBL
    A0A3B2W4A1
    Related
    ENSMUSP00000049070.7, ENSMUST00000041819.14
    Conserved Domains (1) summary
    pfam01167
    Location:299536
    Tub; Tub family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    28570489..28584190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017317394.1XP_017172883.1  tubby-related protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A3B2W4A1
    Conserved Domains (1) summary
    pfam01167
    Location:317560
    Tub; Tub family