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

Gene ID: 7287, updated on 8-Oct-2017
Official Symbol
TULP1provided by HGNC
Official Full Name
tubby like protein 1provided by HGNC
Primary source
HGNC:HGNC:12423
See related
Ensembl:ENSG00000112041 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. 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]
Orthologs
Location:
6p21.31
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

  • 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 Jun 15 11:32:44 2016

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
Products Interactant Other Gene Complex Source Pubs Description

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 non-motile 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
    4933..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
    ENSP00000319414.4, OTTHUMP00000016267, ENST00000322263.8, OTTHUMT00000040308
    Conserved Domains (1) summary
    pfam01167
    Location:245482
    Tub; Tub family
  2. NM_003322.5NP_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
    UniProtKB/TrEMBL
    Q0QD38
    Related
    ENSP00000229771.6, OTTHUMP00000016266, ENST00000229771.10, OTTHUMT00000040307
    Conserved Domains (2) summary
    PHA03282
    Location:382
    PHA03282; envelope glycoprotein E; Provisional
    pfam01167
    Location:298535
    Tub; Tub family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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)
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