GORAB - golgin, RAB6 interacting Gene

Also Known as GO; NTKLBP1; SCYL1BP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92344

About GORAB

Cytogenetic location: 1q24.2 Genomic coordinates (GRCh38): 1:170,532,166-170,553,834 (from NCBI)

This gene has 28 transcripts (splice variants), 195 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.9), lymph node (RPKM 3.7) and 25 other tissues.

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]

GORAB Products (4)

mRNA	Protein	Name
NM_001146039.2	NP_001139511.2	RAB6-interacting golgin isoform b
NM_001320252.2	NP_001307181.1	RAB6-interacting golgin isoform c
NM_001410894.1	NP_001397823.1	RAB6-interacting golgin isoform d
NM_152281.3	NP_689494.3	RAB6-interacting golgin isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15781263	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
RAB6-interacting golgin	N-terminal kinase-like-binding protein 1

GORAB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GORAB	Q5T7V8	NRM	Homo sapiens	Q8IXM6	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	VKORC1L1	Homo sapiens	Q8N0U8	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	PLPP6	Homo sapiens	Q8IY26	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	TMEM86A	Homo sapiens	Q8N2M4	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	LPAR3	Homo sapiens	Q9UBY5	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	TSPAN33	Homo sapiens	Q86UF1	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	TMEM229B	Homo sapiens	Q8NBD8	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	CLDN19	Homo sapiens	Q8N6F1-2	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	CNIH2	Homo sapiens	Q6PI25	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	TMEM14C	Homo sapiens	Q9P0S9	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	STX12	Homo sapiens	Q86Y82	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	CMTM7	Homo sapiens	Q96FZ5	Y2H Prey Pooling	32296183
Intra	GORAB	Q5T7V8	CMTM7	Homo sapiens	Q96FZ5	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	CMTM7	Homo sapiens	Q96FZ5	Y2H Array	32296183
Intra	GORAB	Q5T7V8	LRP10	Homo sapiens	Q7Z4F1	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	LRP10	Homo sapiens	Q7Z4F1	Y2H Array	32296183
Intra	GORAB	Q5T7V8	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	MDM2	Homo sapiens	Q00987	Anti Bait CoIP	20598683
Intra	GORAB	Q5T7V8	MDM2	Homo sapiens	Q00987	Anti Tag CoIP	20598683
Intra	GORAB	Q5T7V8	CLN6	Homo sapiens	Q9NWW5	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	GIMAP5	Homo sapiens	Q96F15	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	VKORC1	Homo sapiens	Q9BQB6	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	BCL2L2	Homo sapiens	Q92843	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	STX8	Homo sapiens	Q9UNK0	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	TMEM19	Homo sapiens	Q96HH6	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	TRAF3IP3	Homo sapiens	Q9Y228	Validated Y2H	32296183
Intra	GORAB	Q5T7V8	SELENOK	Homo sapiens	Q9Y6D0	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Cutis Laxa, Autosomal Recessive, Type Iia	ARCL2A Cutis Laxa With Joint Laxity And Retarded Development Cutis Laxa With Growth And Developmental Delay Cutis Laxa, Debre Type Cutis Laxa With Bone Dystrophy Arcl2 Cutis Laxa With Congenital Disorder Of Glycosylation Autosomal Recessive Cutis Laxa Type Iia Cutis Laxa, Autosomal Recessive Type 2a Cutis Laxa, Autosomal Recessive, 2a Cl Type Iia Cutis Laxa Autosomal Recessive Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib	ARCL2B Cutis Laxa With Progeroid Features Autosomal Recessive Cutis Laxa Type 2b Autosomal Recessive Cutis Laxa Type Iib Arcl2, Progeroid Type Cutis Laxa, Autosomal Recessive Type 2b Autosomal Recessive Cutis Laxa Type 2, Progeroid Type Cutis Laxa, Autosomal Recessive, 2b Cl Type Iib Cutis Laxa Autosomal Recessive Type Iib Cutis Laxa, Autosomal Recessive, Type 2b
Cutis Laxa, Autosomal Recessive, Type Iiia	ARCL3A De Barsy Syndrome A Aldh18a1-Related De Barsy Syndrome Progeroid Syndrome Of De Barsy Autosomal Recessive Cutis Laxa Type Iiia P5cs Deficiency De Barsy Syndrome Cutis Laxa, Corneal Clouding, And Mental Retardation Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency Neurocutaneous Syndrome, Bicknell Type Cutis Laxa Corneal Clouding Mental Retardation Progeroid Syndrome De Barsy Type Cutis Laxa, Autosomal Recessive, 3a Cutis Laxa Autosomal Recessive Type Iiia Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin Neurocutaneous Syndrome Bicknell Type Corneal Clouding Cutis Laxa Mental Retardation
Autosomal Recessive Cutis Laxa Type Iii	De Barsy Syndrome Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome Progeroid Syndrome, De Barsy Type Corneal Clouding, Cutis Laxa And Intellectual Disability Cutis Laxa Growth Deficiency Syndrome Progeroid Syndrome Of De Barsy
Cutis Laxa, Autosomal Recessive, Type Iiib	ARCL3B De Barsy Syndrome B Pycr1-Related De Barsy Syndrome Autosomal Recessive Cutis Laxa Type Iiib Pycr1 Deficiency Pyrroline-5-Carboxylate Reductase 1 Deficiency Cutis Laxa, Autosomal Recessive, 3b Cutis Laxa Autosomal Recessive Type Iiib Cutis Laxa, Autosomal Recessive, Type 3b
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Wrinkly Skin Syndrome	WSS Wrinkled Skin Syndrome
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Cutis Laxa, Autosomal Recessive, Type Ic	Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities ARCL1C Urban-Rifkin-Davis Syndrome Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies URDS Autosomal Recessive Cutis Laxa Type Ic Autosomal Recessive Cutis Laxa Type 1c Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
Autosomal Recessive Cutis Laxa Type I	Autosomal Recessive Cutis Laxa Type 1 Cutis Laxa, Type 1 Cutis Laxa, Autosomal Recessive, Type I Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive Arcl1 Autosomal Recessive Cutis Laxa With Severe Systemic Involvement Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Cutis Laxa, Autosomal Recessive, Type Iid	ARCL2D Autosomal Recessive Cutis Laxa Type Iid Autosomal Recessive Cutis Laxa Type 2d Cutis Laxa, Autosomal Recessive, 2d
Cutis Laxa, Autosomal Recessive, Type Ib	ARCL1B Cutis Laxa, Autosomal Recessive, Type 1b Autosomal Recessive Cutis Laxa Type Ib Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency Cutis Laxa, Autosomal Recessive, 1b Cutis Laxa Autosomal Recessive Type Ib
Achondrogenesis	Achondrogenesis Syndrome
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Tarda SEDT Sed Tarda, X-Linked Spondyloepiphyseal Dysplasia, Late Spondyloepiphyseal Dysplasia Tarda X-Linked Sed X Linked Spondyloepiphyseal Dysplasia Tarda X-Linked Spondyloepiphyseal Dysplasia Late Onset Spondyloepiphyseal Dysplasia Sed Tarda X-Linked Sed X-Linked Sedt Dysplasia, Spondyloepiphyseal, Tarda Spondyloepiphyseal Dysplasia
Occipital Horn Syndrome	OHS Eds Ix Cutis Laxa X-Linked Cutis Laxa, X-Linked Cutis Laxa, X-Linked, Formerly Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly Eds Ix, Formerly Eds9, Formerly Ehlers-Danlos Syndrome Type 9 Ehlers-Danlos Syndrome Type Ix X-Linked Cutis Laxa Ehlers-Danlos Syndrome, Occipital Horn Type Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05600	GORAB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GORAB	VGNC	VGNC:29497
Mus musculus	GORAB	MGD	MGI:2138271
Macaca mulatta	GORAB	VGNC	VGNC:73012
Rattus norvegicus	GORAB	RGD	RGD:1564990
Felis catus	GORAB	VGNC	VGNC:62646
Canis familiaris	GORAB	VGNC	VGNC:41350
Others	GORAB	NCBI