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    Gorab golgin, RAB6-interacting [ Mus musculus (house mouse) ]

    Gene ID: 98376, updated on 9-May-2024

    Summary

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    Official Symbol
    Gorabprovided by MGI
    Official Full Name
    golgin, RAB6-interactingprovided by MGI
    Primary source
    MGI:MGI:2138271
    See related
    Ensembl:ENSMUSG00000040124 AllianceGenome:MGI:2138271
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NTKL-BP1; Scyl1bp1; SCYL1-BP1
    Summary
    Acts upstream of or within hair follicle morphogenesis; non-motile cilium assembly; and positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning. Located in cytoplasm. Is expressed in brain. Human ortholog(s) of this gene implicated in geroderma osteodysplasticum. Orthologous to human GORAB (golgin, RAB6 interacting). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in limb E14.5 (RPKM 5.8), CNS E11.5 (RPKM 5.3) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 H2.1; 1 70.67 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (163212472..163231238, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (163384903..163403669, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 51850 Neighboring gene paired related homeobox 1 Neighboring gene STARR-positive B cell enhancer mm9_chr1:165221956-165222257 Neighboring gene predicted gene, 50607 Neighboring gene predicted gene 20471 Neighboring gene predicted gene, 24940 Neighboring gene STARR-seq mESC enhancer starr_02852 Neighboring gene STARR-seq mESC enhancer starr_02853 Neighboring gene predicted gene, 32333 Neighboring gene predicted gene, 39689 Neighboring gene ribosomal protein SA, pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. Lai C, et al. J Neurosci, 2007 Dec 19. PMID 18094236, Free PMC Article
    2. Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL. Di Y, et al. J Hum Genet, 2003. PMID 12783284
    3. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Gauthier LR, et al. Cell, 2004 Jul 9. PMID 15242649
    4. GORAB promotes embryonic lung maturation through antagonizing AKT phosphorylation, versican expression, and mesenchymal cell migration. Liu Y, et al. FASEB J, 2020 Apr. PMID 32067289, Free PMC Article
    5. Gorab Is Required for Dermal Condensate Cells to Respond to Hedgehog Signals during Hair Follicle Morphogenesis. Liu Y, et al. J Invest Dermatol, 2016 Feb. PMID 26967474, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GORAB promotes embryonic lung maturation through antagonizing AKT phosphorylation, versican expression, and mesenchymal cell migration.
      Title: GORAB promotes embryonic lung maturation through antagonizing AKT phosphorylation, versican expression, and mesenchymal cell migration.
    2. Gorab role in the abnormal osteoblast differentiation in the gerodermia osteodysplastica
      Title: Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.
    3. The G59S mutation in p150(glued) protein abrogates the normal function of the protein and accelerates motor neuron degeneration.
      Title: The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (1)  1 citation

    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 MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within hair follicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    RAB6-interacting golgin
    Names
    N-terminal kinase-like-binding protein 1
    NTKL-binding protein 1
    SCY1-like 1 binding protein 1
    SCYL1-binding 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.

    mRNA and Protein(s)

    1. NM_001313738.1 → NP_001300667.1  RAB6-interacting golgin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK039170, AK169151, BB848512, CK626643
      UniProtKB/Swiss-Prot
      Q8BRM2
      Conserved Domains (1) summary
      pfam04949
      Location:2 → 120
      Transcrip_act; Transcriptional activator

    2. NM_178883.6 → NP_849214.2  RAB6-interacting golgin isoform 1

      See identical proteins and their annotated locations for NP_849214.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK169151, BB848512, CK626643
      Consensus CDS
      CCDS15429.1
      UniProtKB/Swiss-Prot
      Q8BRM2, Q8CAA8
      Related
      ENSMUSP00000036253.5, ENSMUST00000045138.6
      Conserved Domains (1) summary
      pfam04949
      Location:154 → 275
      Transcrip_act; Transcriptional activator

    RNA

    1. NR_132627.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate internal splice site and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC113511, AK169151, BB848512, CK626643
      Related
      ENSMUST00000186402.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      163212472..163231238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BRM2.1 GenPept UniProtKB/Swiss-Prot:Q8BRM2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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