GORAB golgin, RAB6-interacting [Homo sapiens] - Gene

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Summary

Official Symbol: GORABprovided by HGNC
Official Full Name: golgin, RAB6-interactingprovided by HGNC
Primary source: HGNC:25676
See related: Ensembl:ENSG00000120370; HPRD:12144; MIM:607983; Vega:OTTHUMG00000035228
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: GO; NTKLBP1; SCYL1BP1; FLJ11752; MGC51263; MGC70512
Summary: This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

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Genomic context

Location :: 1q24.2

Sequence :: Chromosome: 1; NC_000001.10 (170501263..170522974)

See GORAB in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data suggest that SCYL1-BP1 is a novel regulator of the MDM2-p53 feedback loop and that it may be a potential tumor suppressor.
Title: Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination.
The chemotaxis signal pathway induced by chemokines CKbeta8 and CKbeta8-1 is mediated via the Gi/Go protein, phospholipase C (PLC) and protein kinase C delta (PKC delta).
Title: CK beta 8/CCL23 induces cell migration via the Gi/Go protein/PLC/PKC delta/NF-kappa B and is involved in inflammatory responses.
study supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of geroderma osteodysplastica
Title: A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.
Study demonstrates that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.
Title: Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
assessment of interaction with hPirh2
Title: A new human gene hNTKL-BP1 interacts with hPirh2.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
NP_689494.1	NP_056251.2	RCHY1	BIND	PubMed	NTKL-BP1 interacts with RCHY1 (Pirh2).
Q5T7V8	Q96PM5	RCHY1	HPRD	PubMed
Q5T7V8	Q96KG9	SCYL1	HPRD	PubMed
BioGRID:124937	BioGRID:110358	MDM2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:124937	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: RAB6-interacting golgin

Names: RAB6-interacting golgin; SCYL1-BP1; hNTKL-BP1; NTKL-binding protein 1; SCYL1-binding protein 1; SCY1-like 1 binding protein 1; SCY1-like 1-binding protein 1; N-terminal kinase-like-binding protein 1

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NCBI Reference Sequences (RefSeq)

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

NG_012237.1 RefSeqGene

Range

5001..26712

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001146039.1 → NP_001139511.1 RAB6-interacting golgin isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) is shorter than isoform 1.

Source sequence(s)

AK021814, AK308339, BC064945

Consensus CDS

CCDS53428.1

UniProtKB/Swiss-Prot

Q5T7V8

Related

ENSP00000356736, OTTHUMP00000033165, ENST00000367762, OTTHUMT00000085227
NM_152281.2 → NP_689494.2 RAB6-interacting golgin isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AF143889, AK021814, AK057661, AK308339, AL162399

Consensus CDS

CCDS1289.1

UniProtKB/TrEMBL

B3KQ87

UniProtKB/Swiss-Prot

Q5T7V8

Related

ENSP00000356737, OTTHUMP00000033164, ENST00000367763, OTTHUMT00000085226

Conserved Domains (1) summary

pfam04949
Location:202 – 300
Blast Score: 90

Transcrip_act; Transcriptional activator

RNA

NR_027397.1 RNA Sequence

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF143889, AK057661, AK308339, AL162399

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

170501263..170522974

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

141724791..141746499

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL162399.12	CAI15420.1
		CAI15421.1
genomic	CH471067.1	EAW90878.1
		EAW90879.1
		EAW90880.1
mRNA	AF143889.1	AAD32702.1
mRNA	AK021814.1	BAB13903.1
mRNA	AK057661.1	BAG51949.1
mRNA	AK308339.1	None
mRNA	BC035999.1	None
mRNA	BC047476.1	AAH47476.1
mRNA	BC064945.1	AAH64945.1