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

Gene ID: 98376, updated on 2-Nov-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. 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, Nov 2024]
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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See Gorab in Genome Data Viewer
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 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. Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab(Prx1) mice tibiae: A mouse model of premature aging. Yang H, et al. J Biomech, 2017 Dec 8. PMID 29108851, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. 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

See all (22) 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 IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
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

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