GORAB golgin, RAB6 interacting [Homo sapiens (human)] - Gene

Summary

Official Symbol: GORABprovided by HGNC
Official Full Name: golgin, RAB6 interactingprovided by HGNC
Primary source: HGNC:HGNC:25676
See related: Ensembl:ENSG00000120370 MIM:607983; AllianceGenome:HGNC:25676
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
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]
Expression: Ubiquitous expression in testis (RPKM 3.9), lymph node (RPKM 3.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (170532166..170553834)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (169888121..169909783)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (170501307..170522975)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of RAB6-interacting golgin (GORAB) causes impairment of coat protein complex I (COPI)-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins.
Title: GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.
Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient.
Title: Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
in the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability
Title: A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
SCYL1- BP1 affects the cell cycle through increasing steady state levels of Cyclin F and RRM2 proteins, thus constituting a dual regulatory circuit
Title: SCYL1-BP1 affects cell cycle arrest in human hepatocellular carcinoma cells via Cyclin F and RRM2.
rs17684886 (ZNRF1) and rs599019 (COLEC12) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes
Title: Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes.
SCYL1-BP1 plays a critical role in the regulation of EEA1, BMPR2 and BRCA2 expression.
Title: Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells.
SCYL1BP1 can promote the degradation of MDM2 protein and further inhibit the G1/S transition of lung SCC lines. Reintroduction of SCYL1BP1 into lung SCC lines significantly inhibited cell proliferation, migration, invasion and tumor formation.
Title: SCYL1BP1 has tumor-suppressive functions in human lung squamous carcinoma cells by regulating degradation of MDM2.
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.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Geroderma osteodysplastica MedGen: C0432255 OMIM: 231070 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ha3092 (e-PCR)
- UniSTS:515643

SHGC-75882 (e-PCR)
- UniSTS:72860

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay 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.

Genomic

NG_012237.2 RefSeqGene

Range

5002..26670

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001146039.2 → NP_001139511.2 RAB6-interacting golgin isoform b

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)

AL162399, BC047476, BC064945

Consensus CDS

CCDS53428.2

Related

ENSP00000356736.2, ENST00000367762.2
NM_001320252.2 → NP_001307181.1 RAB6-interacting golgin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream in-frame start codon, compared to variant 1. It encodes isoform c, which is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AL162399

UniProtKB/TrEMBL

B3KQ87

Conserved Domains (1) summary

pfam04949
Location:2 → 120

Transcrip_act; Transcriptional activator
NM_001410894.1 → NP_001397823.1 RAB6-interacting golgin isoform d

Status: REVIEWED

Source sequence(s)

AL162399

Consensus CDS

CCDS91103.1

UniProtKB/TrEMBL

A0A8I5KW31

Related

ENSP00000510426.1, ENST00000688688.1
NM_152281.3 → NP_689494.3 RAB6-interacting golgin isoform a

Status: REVIEWED

Description

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

Source sequence(s)

AK021814, AK057661, AL162399, BC047476

Consensus CDS

CCDS1289.2

UniProtKB/Swiss-Prot

Q49A22, Q5T7V8, Q6P1P9, Q9HAE6, Q9Y350

Related

ENSP00000356737.4, ENST00000367763.8

Conserved Domains (1) summary

pfam04949
Location:157 → 275

Transcrip_act; Transcriptional activator

RNA

NR_027397.2 RNA Sequence

Status: REVIEWED

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)

AL162399

Related

ENST00000692875.1