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

Gene ID: 7287, updated on 5-Mar-2024

Summary

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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
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Genomic context

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Location:
6p21.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35497874..35512896, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35320953..35335977, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35465651..35480673, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24408 Neighboring gene ribosomal protein L10a Neighboring gene microRNA 7111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35447729-35448229 Neighboring gene TEA domain transcription factor 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35453191-35453766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35454343-35454918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35456069-35456644 Neighboring gene VISTA enhancer hs1887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35463100-35463885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35464832-35465762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35465763-35466692 Neighboring gene uncharacterized LOC124901309 Neighboring gene MPRA-validated peak5766 silencer Neighboring gene uncharacterized LOC101929309 Neighboring gene ribosomal protein S15a pseudogene 19

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. Majander A, et al. Acta Ophthalmol, 2023 Mar. PMID 36128853
  2. TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. Al-Hindi H, et al. Ophthalmic Genet, 2022 Apr. PMID 34865612
  3. A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa. Woodard DR, et al. Mol Vis, 2021. PMID 33907372, Free PMC Article
  4. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Ullah I, et al. Mol Vis, 2016. PMID 27440997, Free PMC Article
  5. Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration. Lobo GP, et al. PLoS One, 2016. PMID 26987071, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. photoreceptor degeneration caused by missense mutations via endoplasmic reticulum unfolded protein response
    Title: Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.
  6. 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.
  7. 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).
  8. 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.
  9. 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.
  10. 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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_009077.1 RefSeqGene

    Range
    4975..19997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    35497874..35512896 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    35320953..35335977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00294.3 GenPept UniProtKB/Swiss-Prot:O00294

Gene LinkOut

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