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

    Gene ID: 7287, updated on 14-Jun-2016
    Official Symbol
    TULP1provided by HGNC
    Official Full Name
    tubby like protein 1provided by HGNC
    Primary source
    HGNC:HGNC:12423
    See related
    Ensembl:ENSG00000112041 HPRD:03788; MIM:602280; Vega:OTTHUMG00000014575
    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 and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with juvenile retinitis pigmentosa and Leber congenital amaurosis-15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Orthologs
    Location:
    6p21.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (35497874..35512902, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35465651..35480715, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 7111 Neighboring gene ribosomal protein L10a Neighboring gene TEA domain transcription factor 3 Neighboring gene uncharacterized LOC101929309 Neighboring gene ribosomal protein S15a pseudogene 19 Neighboring gene FK506 binding protein 5 Neighboring gene ribosomal protein L36 pseudogene 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    eye photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phagocytosis, recognition IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phagocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    receptor localization to nonmotile primary cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    retina homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    axon terminus IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    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
      4969..19997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001289395.1NP_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/Swiss-Prot
      O00294
      UniProtKB/TrEMBL
      F1T0I9
      Related
      ENSP00000319414, OTTHUMP00000016267, ENST00000322263, OTTHUMT00000040308
      Conserved Domains (1) summary
      pfam01167
      Location:245483
      Tub; Tub family
    2. NM_003322.4NP_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)
      AB593123, BC001761, BC032714, BC065261, CN355966, U82468
      Consensus CDS
      CCDS4807.1
      UniProtKB/Swiss-Prot
      O00294
      UniProtKB/TrEMBL
      F1T0I9
      Related
      ENSP00000229771, OTTHUMP00000016266, ENST00000229771, OTTHUMT00000040307
      Conserved Domains (2) summary
      PHA03282
      Location:382
      PHA03282; envelope glycoprotein E; Provisional
      pfam01167
      Location:298536
      Tub; Tub family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      35497874..35512902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      35467671..35482699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)