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

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: human all
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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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Photoreceptor Compartment-Specific TULP1 Interactomes.
Title: Photoreceptor Compartment-Specific TULP1 Interactomes.
TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.
Title: TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.
Tulp1 is essential to keep endocytotic proteins enriched at the periactive zone in photoreceptor ribbon synapses.
Title: The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses.
Data suggest that photoreceptors-specific protein Tulp1 is involved in the trafficking of proteins from the inner segment (IS) to the outer segment (OS) and the continuous membrane remodeling and vesicle cycling at the synaptic terminal.
Title: A Novel Approach to Identify Photoreceptor Compartment-Specific Tulp1 Binding Partners.
Although MAP1A and MAP1B protein levels are not affected in the tulp1-/- retina, they are no longer localized to the outer segment of photoreceptors.
Title: Interaction of tubby-like protein-1 (Tulp1) and microtubule-associated protein (MAP) 1A and MAP1B in the mouse retina.
Mtap1a, which modifies hearing loss in Tub(tub/tub) mice, also modifies retinal degeneration in Tub and Tulp1 mice; functionally nonredundant members of the TULP family (TUB and TULP1) share a common functional interaction with MTAP1A
Title: An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice.
Outer segment proteins are affected differently in Tulp1-/- mice, providing evidence that Tulp1 functions in selective outer segment pathways.
Title: Tulp1 is involved in specific photoreceptor protein transport pathways.
A new mutation in Tulp1 was identifies in a mouse model of retinal degeneration.
Title: Translational vision research models program.
These data implicate Tulp1 in the transport of selective integral membrane outer segment proteins and their associated proteins, specifically, the opsin and guanylate cyclase carrier pathways.
Title: Immunocytochemical evidence of Tulp1-dependent outer segment protein transport pathways in photoreceptor cells.
Tulp1 is not only critical for photoreceptor function and survival, but is essential for the proper development of the photoreceptor synapse.
Title: Tubby-like protein 1 (Tulp1) is required for normal photoreceptor synaptic development.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Spontaneous (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

NM_021478.2 → NP_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:299 → 536

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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

28570489..28584190 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A3B2W4A1

Conserved Domains (1) summary

pfam01167
Location:317 → 560

Tub; Tub family