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

    Gene ID: 7287, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TULP1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001289395.2NP_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:245482
      Tub; Tub family
    2. NM_003322.6NP_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:382
      PHA03282; envelope glycoprotein E; Provisional
      pfam01167
      Location:298535
      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)