TULP1 TUB like protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TULP1provided by HGNC
Official Full Name: TUB like protein 1provided by HGNC
Primary source: HGNC:HGNC:12423
See related: Ensembl:ENSG00000112041 MIM:602280; AllianceGenome:HGNC:12423
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: RP14; LCA15; TUBL1
Summary: This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (35497874..35512896, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (35320953..35335977, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (35465651..35480673, complement)

Chromosome 6 - NC_000006.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
Title: Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.
Title: TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.
A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
Title: A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
Pathogenic mutations in TULP1 are responsible for the retinitis pigmentosa phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families.
Title: Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
photoreceptor degeneration caused by missense mutations via endoplasmic reticulum unfolded protein response
Title: Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.
This study highlights the value of the broad sequencing strategy of exome sequencing for disease gene identification in Leber congenital amaurosis, over other existing methods.
Title: Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Data suggest that mutant tubby like protein 1 (TULP1) proteins are misfolded and accumulate within the endoplasmic reticulum (ER) leading to induction of the unfolded protein response (UPR) stress response complex.
Title: TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR).
The TULP1 allele p.Gln301* represents a founder mutation on the Arabian Peninsula and is associated with a recognisable congenital recessive rod-cone dystrophy phenotype in the homozygous state.
Title: A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
Retinal degeneration with TULP1 mutations leads to a small central island of residual foveal cones at early ages which are less sensitive than expected from the residual structure.
Title: TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
Tubby and Tulp1 mediated phagocytosis through MerTK-dependent signaling with non-muscle myosin II redistribution leading to colocalization of phagocytosed vesicles with rearranged NMMIIA.
Title: Synergistic interaction of tubby and tubby-like protein 1 (Tulp1).

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber congenital amaurosis 15 MedGen: C3151206 OMIM: 613843 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	not available
Retinitis pigmentosa 14 MedGen: C1838603 OMIM: 600132 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye photoreceptor cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in phagocytosis, recognition	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in retina homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: tubby-related protein 1

Names: 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.

Genomic

NG_009077.1 RefSeqGene

Range

4975..19997

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001289395.2 → NP_001276324.1 tubby-related protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter than isoform 1.

Source sequence(s)

AB593123, BC032714, BC065261, CN355966

Consensus CDS

CCDS75436.1

UniProtKB/TrEMBL

A0A087WT25

Related

ENSP00000319414.4, ENST00000322263.8

Conserved Domains (1) summary

pfam01167
Location:245 → 482

Tub; Tub family
NM_003322.6 → NP_003313.3 tubby-related protein 1 isoform 1

See identical proteins and their annotated locations for NP_003313.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL033519, BC065261, DQ426893, U82468

Consensus CDS

CCDS4807.1

UniProtKB/Swiss-Prot

O00294, O43536, Q5TGM5, Q8N571

UniProtKB/TrEMBL

A0A087WT25

Related

ENSP00000229771.6, ENST00000229771.11

Conserved Domains (2) summary

PHA03282
Location:3 → 82

PHA03282; envelope glycoprotein E; Provisional

pfam01167
Location:298 → 535

Tub; Tub family