1. Gene
  2. RETREG1 - reticulophagy regulator 1 Gene

RETREG1 - reticulophagy regulator 1 Gene

Homo sapiens

Also known as JK1; JK-1; FAM134B

Gene ID: 54463 | Gene type: protein coding

About RETREG1

Cytogenetic location: 5p15.1 Genomic coordinates (GRCh38): 5:16,473,053-16,616,997 (from NCBI)

This gene has 24 transcripts (splice variants), 123 orthologues and is associated with 4 phenotypes. Broad expression in heart (RPKM 29.0), brain (RPKM 19.9) and 20 other tissues.

Summary

The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

RETREG1 Products(2)

mRNA Protein Name
NM_001034850.3 NP_001030022.1 reticulophagy regulator 1 isoform 1
NM_019000.5 NP_061873.2 reticulophagy regulator 1 isoform 2

RETREG1 Protein Structure

Reticulon

Reticulon: Reticulon (84 - 233)

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  • 497 a.a.
Protein Preferred Names Protein Names

reticulophagy regulator 1

family with sequence similarity 134 member B

Related Diseases

Diseases Alias
Neuropathy, Hereditary Sensory And Autonomic, Type Iib

HSAN2B

Hereditary Sensory And Autonomic Neuropathy Type 2b

Hereditary Sensory And Autonomic Neuropathy Type Iib

Neuropathy, Hereditary Sensory And Autonomic, Type 2b

Neuropathy, Hereditary Sensory And Autonomic, 2b

Neuropathy, Sensory And Autonomic, Hereditary, Type Iib

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Morvan'S Disease

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Autonomic Neuropathy

Diabetic Autonomic Neuropathy

Vascular Dementia

Dementia, Vascular

Multi Infarct Dementia

Multifocal Dementia

Dementia Vascular

Vascular Dementia, Susceptibility To

Dementia, Multi-Infarct

Multi-Infarct Dementia

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8

Hsan Viii

Hereditary Sensory And Autonomic Neuropathy Type 8

Hereditary Sensory And Autonomic Neuropathy Type Viii

Neuropathy, Hereditary Sensory And Autonomic, 8

Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Acroosteolysis

Acro-Osteolysis

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7

HSAN7

Hereditary Sensory And Autonomic Neuropathy Type Vii

Hsan Vii

Cip With Hyperhidrosis And Gastrointestinal Dysfunction

Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction

Hsan With Hyperhidrosis And Gastrointestinal Dysfunction

Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction

Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Hereditary Sensory And Autonomic, 7

Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]

Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly

MRD44

Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome

Autosomal Dominant Non-Syndromic Intellectual Disability 44

Mental Retardation, Autosomal Dominant 44

Autosomal Dominant Intellectual Developmental Disorder 44

Autosomal Dominant Intellectual Developmental Disorder 44 With Microcephaly

Autosomal Dominant Mental Retardation 44

Mental Retardation, Autosomal Dominant, Type 44

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6

HSAN6

Hsan Vi

Hereditary Sensory And Autonomic Neuropathy Type Vi

Familial Dysautonomia With Contractures

Neuropathy, Hereditary Sensory And Autonomic, 6

Hereditary Sensory Neuropathy Type Vi

Hsn Vi

Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5

Hereditary Sensory And Autonomic Neuropathy Type V

Hsan V

Hereditary Sensory And Autonomic Neuropathy Type 5

Congenital Insensitivity To Pain

Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers

Hsan Type V

Insensitivity To Pain, Congenital

Hereditary Sensory And Autonomic Neuropathy, Type 5

Congenital Insensitivity To Pain And Thermal Analgesia

Neuropathy, Hereditary Sensory And Autonomic, 5

Hereditary Sensory Neuropathy Type V

Hsn V

Pain Insensitivity, Congenital

Neuropathy, Sensory And Autonomic, Hereditary, Type V

Hereditary Sensory Autonomic Neuropathy, Type 5

Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Spasticity
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta RETREG1 VGNC VGNC:76832
Felis catus RETREG1 VGNC VGNC:102304
Bos taurus RETREG1 VGNC VGNC:33878
Rattus norvegicus RETREG1 RGD RGD:1565003
Canis familiaris RETREG1 VGNC VGNC:45483
Mus musculus RETREG1 MGD MGI:1913520