GORAB - golgin, RAB6 interacting Gene

Homo sapiens

Also known as GO; NTKLBP1; SCYL1BP1

Gene ID: 92344 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

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

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