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

Gene ID: 98376, updated on 26-Sep-2022

Summary

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
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Genomic context

See Gorab in Genome Data Viewer
Location:
1; 1 H2.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 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 predicted gene, 50607 Neighboring gene predicted gene 20471 Neighboring gene predicted gene, 24940 Neighboring gene predicted gene, 32333 Neighboring gene predicted gene, 39689 Neighboring gene ribosomal protein SA, pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
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

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_001313738.1NP_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:2120
    Transcrip_act; Transcriptional activator
  2. NM_178883.6NP_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:154275
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)