Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	92344
Gene name	Golgin, RAB6 interacting
Gene symbol	GORAB
Synonyms (NCBI Gene)	GONTKLBP1SCYL1BP1
Chromosome	1
Chromosome location	1q24.2
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

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119455951	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs119455952	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs183596463	G>A,C,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs749490786	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1085307068	GA>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1330106644	G>C,T	Pathogenic	3 prime UTR variant, intron variant
rs1558006532	A>T	Pathogenic	Splice acceptor variant
rs1571243797	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant

Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT646106	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT646105	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646104	hsa-miR-7852-3p	HITS-CLIP	23824327
MIRT646103	hsa-miR-4703-3p	HITS-CLIP	23824327
MIRT646102	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT646101	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT646100	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT646099	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT646106	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT646105	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646104	hsa-miR-7852-3p	HITS-CLIP	23824327
MIRT646103	hsa-miR-4703-3p	HITS-CLIP	23824327
MIRT646102	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT646101	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT646100	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT646099	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT1027402	hsa-miR-1207-3p	CLIP-seq
MIRT1027403	hsa-miR-1272	CLIP-seq
MIRT1027404	hsa-miR-3128	CLIP-seq
MIRT1027405	hsa-miR-331-3p	CLIP-seq
MIRT1027406	hsa-miR-3611	CLIP-seq
MIRT1027407	hsa-miR-3682-3p	CLIP-seq
MIRT1027408	hsa-miR-3908	CLIP-seq
MIRT1027409	hsa-miR-409-3p	CLIP-seq
MIRT1027410	hsa-miR-4308	CLIP-seq
MIRT1027411	hsa-miR-4422	CLIP-seq
MIRT1027412	hsa-miR-4446-3p	CLIP-seq
MIRT1027413	hsa-miR-4656	CLIP-seq
MIRT1027414	hsa-miR-4780	CLIP-seq
MIRT1027415	hsa-miR-487a	CLIP-seq
MIRT1027416	hsa-miR-488	CLIP-seq
MIRT1027417	hsa-miR-570	CLIP-seq
MIRT1027418	hsa-miR-623	CLIP-seq
MIRT1027419	hsa-miR-653	CLIP-seq
MIRT1027420	hsa-miR-1290	CLIP-seq
MIRT1027421	hsa-miR-3167	CLIP-seq
MIRT1027422	hsa-miR-3202	CLIP-seq
MIRT1027423	hsa-miR-34b	CLIP-seq
MIRT1027424	hsa-miR-377	CLIP-seq
MIRT1027425	hsa-miR-4533	CLIP-seq
MIRT1027426	hsa-miR-4668-3p	CLIP-seq
MIRT1027427	hsa-miR-4753-3p	CLIP-seq
MIRT1027428	hsa-miR-4768-5p	CLIP-seq
MIRT1027429	hsa-miR-4775	CLIP-seq
MIRT1027415	hsa-miR-487a	CLIP-seq
MIRT1027430	hsa-miR-582-5p	CLIP-seq
MIRT1027431	hsa-miR-590-3p	CLIP-seq
MIRT1027432	hsa-miR-595	CLIP-seq
MIRT1027433	hsa-miR-876-5p	CLIP-seq
MIRT2541345	hsa-miR-145	CLIP-seq
MIRT2541346	hsa-miR-150	CLIP-seq
MIRT2541347	hsa-miR-1915	CLIP-seq
MIRT2541348	hsa-miR-203	CLIP-seq
MIRT2541349	hsa-miR-3117-3p	CLIP-seq
MIRT2541350	hsa-miR-3163	CLIP-seq
MIRT2541351	hsa-miR-3169	CLIP-seq
MIRT2541352	hsa-miR-3200-5p	CLIP-seq
MIRT2541353	hsa-miR-331-5p	CLIP-seq
MIRT2541354	hsa-miR-374c	CLIP-seq
MIRT2541355	hsa-miR-3920	CLIP-seq
MIRT2541356	hsa-miR-4434	CLIP-seq
MIRT2541357	hsa-miR-4461	CLIP-seq
MIRT2541358	hsa-miR-4516	CLIP-seq
MIRT2541359	hsa-miR-4678	CLIP-seq
MIRT2541360	hsa-miR-4713-5p	CLIP-seq
MIRT2541361	hsa-miR-4726-3p	CLIP-seq
MIRT2541362	hsa-miR-4759	CLIP-seq
MIRT2541363	hsa-miR-4768-3p	CLIP-seq
MIRT2541364	hsa-miR-496	CLIP-seq
MIRT2541365	hsa-miR-532-3p	CLIP-seq
MIRT2541366	hsa-miR-587	CLIP-seq
MIRT2541367	hsa-miR-617	CLIP-seq
MIRT2541368	hsa-miR-655	CLIP-seq
MIRT2541369	hsa-miR-665	CLIP-seq
MIRT2541345	hsa-miR-145	CLIP-seq
MIRT2541346	hsa-miR-150	CLIP-seq
MIRT2541347	hsa-miR-1915	CLIP-seq
MIRT2541348	hsa-miR-203	CLIP-seq
MIRT2541349	hsa-miR-3117-3p	CLIP-seq
MIRT2541350	hsa-miR-3163	CLIP-seq
MIRT2541351	hsa-miR-3169	CLIP-seq
MIRT2541353	hsa-miR-331-5p	CLIP-seq
MIRT2541354	hsa-miR-374c	CLIP-seq
MIRT2541355	hsa-miR-3920	CLIP-seq
MIRT2541356	hsa-miR-4434	CLIP-seq
MIRT2541357	hsa-miR-4461	CLIP-seq
MIRT2541358	hsa-miR-4516	CLIP-seq
MIRT2541359	hsa-miR-4678	CLIP-seq
MIRT2541360	hsa-miR-4713-5p	CLIP-seq
MIRT2541361	hsa-miR-4726-3p	CLIP-seq
MIRT2541362	hsa-miR-4759	CLIP-seq
MIRT2541363	hsa-miR-4768-3p	CLIP-seq
MIRT2541364	hsa-miR-496	CLIP-seq
MIRT2541365	hsa-miR-532-3p	CLIP-seq
MIRT2541366	hsa-miR-587	CLIP-seq
MIRT2541367	hsa-miR-617	CLIP-seq
MIRT2541368	hsa-miR-655	CLIP-seq
MIRT2541369	hsa-miR-665	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15781263, 20598683, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
607983	25676	ENSG00000120370

Q5T7V8

Protein name

RAB6-interacting golgin (N-terminal kinase-like-binding protein 1) (NTKL-BP1) (NTKL-binding protein 1) (hNTKL-BP1) (SCY1-like 1-binding protein 1) (SCYL1-BP1) (SCYL1-binding protein 1)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04949	Transcrip_act	154 → 301	Transcriptional activator	Family

Sequence

MSWAAVLAVAAARFGHFWGCRWPGPMAQGWAGFSEEELRRLKQTKDPFEPQRRLPAKKSR
QQLQREKALVEQSQKLGLQDGSTSLLPEQLLSAPKQRVNVQKPPFSSPTLPSHFTLTSPV
GDGQPQGIESQPKELGLENSHDGHNNVEILPPKPDCKLEKKKVELQEKSRWEVLQQEQRL
MEEKNKRKKALLAKAIAERSKRTQAETMKLKRIQKELQALDDMVSADIGILRNRIDQASL
DYSYARKRFDRAEAEYIAAKLDIQRKTEIKEQLTEHLCTIIQQNELRKAKKLEELMQQLD
VEADEETLELEVEVERLLHEQEVESRRPVVRLERPFQPAEESVTLEFAKENRKCQEQAVS
PKVDDQCGNSSSIPFLSPNCPNQEGNDISAALAT

Sequence length

394

Interactions

View interactions

	KEGG
	p53 signaling pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Geroderma osteodysplastica	Pathogenic; Likely pathogenic	rs1461050152, rs752751787, rs119455951, rs119455952, rs1330106644, rs2525929880, rs183596463, rs1085307068, rs747376663, rs1557999318, rs369967804, rs1571243797	RCV003139006 RCV003348836 RCV000002769 RCV000002771 RCV000002772 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GORAB-related disorder	Pathogenic	rs119455951	RCV003894787	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF SKIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ABNORMALITIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	29146897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	29146897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	29146897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	29146897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	29146897	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	30631079	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	27604556	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25819896	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	25819896	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Geroderma osteodysplastica	Geroderma Osteodysplastica	BEFREE	18997784, 19681135, 21204221, 26000619, 28807865, 29108851, 30631079	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Geroderma osteodysplastica	Geroderma Osteodysplastica	ORPHANET_DG	18997784	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Geroderma osteodysplastica	Geroderma Osteodysplastica	CLINVAR_DG	18997784	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Geroderma osteodysplastica	Geroderma Osteodysplastica	CTD_human_DG	18997784	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Geroderma osteodysplastica	Geroderma Osteodysplastica	GENOMICS_ENGLAND_DG	18997784, 19681135, 26000619	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Geroderma osteodysplastica	Geroderma Osteodysplastica	Orphanet		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Developmental Delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22570270	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22570270	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	21204221	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18997784	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	29108851	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18997784	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18997784	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18997784	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only

GORAB (golgin, RAB6 interacting)