1. Gene
  2. REEP1 - receptor accessory protein 1 Gene

REEP1 - receptor accessory protein 1 Gene

Homo sapiens

Also known as DSMA6; HMN5B; SPG31; Yip2a; C2orf23

Gene ID: 65055 | Gene type: protein coding

About REEP1

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,213,993-86,338,083 (from NCBI)

This gene has 22 transcripts (splice variants), 210 orthologues, 5 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 30.1), brain (RPKM 18.8) and 11 other tissues.

Summary

This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

REEP1 Products(8)

mRNA Protein Name
NM_001164730.2 NP_001158202.1 receptor expression-enhancing protein 1 isoform 1
NM_001164731.2 NP_001158203.1 receptor expression-enhancing protein 1 isoform 3
NM_001164732.2 NP_001158204.1 receptor expression-enhancing protein 1 isoform 4
NM_001371279.1 NP_001358208.1 receptor expression-enhancing protein 1 isoform 5
NM_001371280.1 NP_001358209.1 receptor expression-enhancing protein 1 isoform 6
NM_001410855.1 NP_001397784.1 receptor expression-enhancing protein 1 isoform 7
NM_001410856.1 NP_001397785.1 receptor expression-enhancing protein 1 isoform 8
NM_022912.3 NP_075063.1 receptor expression-enhancing protein 1 isoform 2

REEP1 Protein Structure

TB2_DP1_HVA22

TB2_DP1_HVA22: TB2/DP1, HVA22 family (5 - 95)

  • 0
  • 100
  • 201 a.a.
Protein Preferred Names Protein Names

receptor expression-enhancing protein 1

spastic paraplegia 31 protein

Related Diseases

Diseases Alias
Spastic Paraplegia 31, Autosomal Dominant

SPG31

Hereditary Spastic Paraplegia 31

Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia 31

Autosomal Dominant Spastic Paraplegia Type 31

Spastic Paraplegia Type 31

Paraplegia, Spastic, Autosomal Dominant, Type 31

Neuronopathy, Distal Hereditary Motor, Type Vb

HMN5B

Hmn Vb

Dhmn5b

Dhmn Vb

Dsmavb

Neuronopathy, Distal Hereditary Motor, Type 5b

Neuropathy, Distal Hereditary Motor, Type Vb

Spinal Muscular Atrophy, Distal, Type Vb

Distal Hereditary Motor Neuronopathy Type 5b

Distal Hmn Vb

Distal Spinal Muscular Atrophy Type Vb

Neuronopathy, Distal Hereditary Motor, 5b

Distal Hereditary Motor Neuropathy Type Vb

Spinal Muscular Atrophy Distal Type Vb

Neuropathy, Motor, Distal, Hereditary, Type Vb

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6

DSMA6

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

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav

Distal Hereditary Motor Neuropathy Type V

Young Adult-Onset Distal Hereditary Motor Neuropathy

Neuronopathy, Distal Hereditary Motor, Type V

Distal Hereditary Motor Neuronopathy Type 5

Dhmn5

Distal Spinal Muscular Atrophy Type 5

HMN5A

Hmn5

Dhmn5a

Dhmn Va

Dsmava

Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

Distal Hmn V

Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

Dsma5

Young Adult-Onset Dhmn

Dhmn-V

Hmn V

Neuronopathy, Distal Hereditary Motor, Type 5a

Hmn 5a

Neuropathy, Distal Hereditary Motor, Type Va

Spinal Muscular Atrophy, Distal, Type Va

Spinal Muscular Atrophy, Distal, Type V

Distal Spinal Muscular Atrophy Type V

Distal Spinal Muscular Atrophy With Upper Limb Predominance

Distal Hereditary Motor Neuronopathy Type 5a

Distal Hmn Va

Distal Spinal Muscular Atrophy Type Va

Distal Hereditary Motor Neuropathy, Type V

Distal Hereditary Motor Neuronopathy, Type V

Distal Spinal Muscular Atrophy, Type V

Spinal Muscular Atrophy, Distal Type V

Distal Hereditary Motor Neuropathy Type 5

Neuronopathy, Distal Hereditary Motor, 5a

Dhmn V

Distal Hereditary Motor Neuronopathy Type Va

Distal Hereditary Motor Neuropathy Type Va

Dsma-V

Hmn Va

Spinal Muscular Atrophy Distal Type V

Spinal Muscular Atrophy Distal Type Va

Spinal Muscular Atrophy Distal With Upper Limb Predominance

Neuropathy, Distal Hereditary Motor, Type V

Neuropathy, Motor, Distal, Hereditary, Type Va

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Hereditary Spastic Paraplegia 30

Autosomal Spastic Paraplegia Type 30

Spg30

Autosomal Recessive Spastic Paraplegia 30

Spastic Paraplegia 26, Autosomal Recessive

SPG26

Hereditary Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia Type 26

Gm2 Synthase Deficiency

Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia 26

Paraplegia, Spastic, Autosomal Recessive, Type 26

Spastic Paraplegia 18, Autosomal Recessive

SPG18

Idmdc

Hereditary Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction, And Joint Contractures

Autosomal Recessive Spastic Paraplegia Type 18

Autosomal Recessive Spastic Paraplegia 18

Intellectual Disability, Motor Dysfunction And Joint Contractures

Spastic Paraplegia 18

Intellectual Disability Motor Dysfunction And Joint Contractures

Paraplegia, Spastic, Type 18

Spastic Paraplegia 61, Autosomal Recessive

SPG61

Hereditary Spastic Paraplegia 61

Autosomal Recessive Spastic Paraplegia Type 61

Autosomal Recessive Spastic Paraplegia 61

Paraplegia, Spastic, Type 61, Autosomal Recessive

Spastic Paraplegia 42, Autosomal Dominant

SPG42

Hereditary Spastic Paraplegia 42

Autosomal Dominant Spastic Paraplegia Type 42

Autosomal Dominant Spastic Paraplegia 42

Paraplegia, Spastic, Type 42, Autosomal Dominant

Spastic Paraplegia 78, Autosomal Recessive

SPG78

Autosomal Recessive Spastic Paraplegia Type 78

Hereditary Spastic Paraplegia 78

Spastic Paraplegia 78 Autosomal Recessive

Doid:0112348

Masa Syndrome

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

SPG1

Gareis-Mason Syndrome

Spastic Paraplegia 1, X-Linked

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

L1cam Syndrome

Spastic Paraplegia 1

Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

Clasped Thumb And Mental Retardation

Thumb, Congenital Clasped, With Mental Retardation

Adducted Thumb With Mental Retardation

Hereditary Spastic Paraplegia 1

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

X-Linked Corpus Callosum Agenesis

X-Linked Spastic Paraplegia 1

L1 Disease

X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

Adducted Thumb With Intellectual Disability

Clasped Thumb And Intellectual Disability

Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

Thumb Congenital Clasped With Intellectual Disability

X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

Adducted Thumbs-Mental Retardation Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Mental Retardation-Clasped Thumb Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia Type 1, X-Linked

MASA

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Crash

Masa Syndrome

Motor Peripheral Neuropathy

Motor Neuritis

Peripheral Motor Neuropathy

Hereditary Motor And Sensory Neuropathy

Hsmn

Hsmn - Hereditary Sensory And Motor Neuropathy

Neuropathic Muscular Atrophy

Hereditary Sensory And Motor Neuropathy

Hereditary Motor And Sensory Neuropathies

Spastic Paraplegia 57, Autosomal Recessive

SPG57

Hereditary Spastic Paraplegia 57

Autosomal Recessive Spastic Paraplegia Type 57

Autosomal Recessive Spastic Paraplegia 57

Spastic Paraplegia Due To Partial Tfg Deficiency

Paraplegia, Spastic, Type 57, Autosomal Recessive

Spastic Paraplegia 75, Autosomal Recessive

SPG75

Hereditary Spastic Paraplegia 75

Autosomal Recessive Spastic Paraplegia Type 75

Autosomal Recessive Spastic Paraplegia 75

Spastic Paraplegia 13, Autosomal Dominant

SPG13

Hereditary Spastic Paraplegia 13

Autosomal Dominant Spastic Paraplegia 13

Spastic Paraplegia 13

Autosomal Dominant Spastic Paraplegia Type 13

Spastic Paraplegia-13

Paraplegia, Spastic, Type 13

Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10

Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2

Neuropathy, Hereditary Sensory, Type Iic

HSN2C

Hereditary Sensory Neuropathy Type 2c

Hereditary Sensory Neuropathy Type Iic

Neuropathy, Hereditary Sensory, Type 2c

Neuropathy, Hereditary Sensory, 2c

Hsn Iice

Neuropathy, Sensory, Hereditary, Type Iic

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Spastic Paraplegia 73, Autosomal Dominant

SPG73

Hereditary Spastic Paraplegia 73

Autosomal Dominant Spastic Paraplegia Type 73

Autosomal Dominant Spastic Paraplegia 73

Paraplegia, Spastic, Autosomal Dominant, Type 73

Spastic Paraplegia 62, Autosomal Recessive

SPG62

Hereditary Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia Type 62

Spastic Paraplegia 62

Autosomal Recessive Spastic Paraplegia 62

Paraplegia, Spastic, Type 62

Spastic Ataxia 2
Spastic Paraplegia 3, Autosomal Dominant

SPG3A

Strumpell Disease

Hereditary Spastic Paraplegia 3a

SPG3

Fsp1

Autosomal Dominant Spastic Paraplegia Type 3

Familial Spastic Paraplegia, Autosomal Dominant, 1

Spastic Paraplegia 3a, Autosomal Dominant

Autosomal Dominant Familial Spastic Paraplegia 1

Autosomal Dominant Spastic Paraplegia 3

Spastic Paraplegia 3

Familial Spastic Paraplegia Autosomal Dominant 1

Strumpell-Lorrain Syndrome

Paraplegia, Spastic, Autosomal Dominant, Type 3a

Spastic Paraplegia, Hereditary

Spastic Paraplegia 54, Autosomal Recessive

SPG54

Hereditary Spastic Paraplegia 54

Autosomal Recessive Spastic Paraplegia Type 54

Autosomal Recessive Spastic Paraplegia 54

Paraplegia, Spastic, Type 54, Autosomal Recessive

Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a

SPG9A

Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

Ad-Spg9a

Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

Autosomal Dominant Complex Spastic Paraplegia Type 9a

Autosomal Dominant Spastic Paraplegia 9a

Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

Autosomal Dominant Spastic Paraplegia Type 9a

Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

Spastic Paraplegia 9, Autosomal Dominant

Spastic Paraplegia 15, Autosomal Recessive

SPG15

Kjellin Syndrome

Hereditary Spastic Paraplegia 15

Spastic Paraplegia And Retinal Degeneration

Autosomal Recessive Spastic Paraplegia Type 15

Hereditary Spastic Paraparesis Type 15

Spastic Paraplegia-Retinal Degeneration Syndrome

Autosomal Recessive Spastic Paraplegia 15

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35

Spg35

Autosomal Recessive Spastic Paraplegia 35

Fahn

Fatty Acid Hydroxylase-Associated Neurodegeneration

Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia 4, Autosomal Dominant

SPG4

Hereditary Spastic Paraplegia 4

Fsp2

Autosomal Dominant Spastic Paraplegia Type 4

Familial Spastic Paraplegia, Autosomal Dominant, 2

Autosomal Dominant Spastic Paraplegia 4

Familial Spastic Paraplegia Autosomal Dominant 2

Paraplegia, Spastic, Autosomal Dominant, Type 4

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy

Autosomal Dominant Dhmn

Autosomal Dominant Distal Spinal Muscular Atrophy

Spastic Paraplegia 12, Autosomal Dominant

SPG12

Hereditary Spastic Paraplegia 12

Autosomal Dominant Spastic Paraplegia Type 12

Autosomal Dominant Spastic Paraplegia 12

Spastic Paraplegia 12

Spastic Paraplegia-12

Paraplegia, Spastic, Autosomal Dominant, Type 12

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1

DSMA1

Sianrf

Dhmn6

Spinal Muscular Atrophy With Respiratory Distress 1

HMN6

Severe Infantile Axonal Neuropathy With Respiratory Failure

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Diaphragmatic Spinal Muscular Atrophy

Spinal Muscular Atrophy With Respiratory Distress Type 1

Neuronopathy, Distal Hereditary Motor, Type Vi

Hmn Vi

Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

Distal Spinal Muscular Atrophy 1

Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

Distal Hereditary Motor Neuropathy Type 6

Distal-Hmn Type 6

Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

Spinal Muscular Atrophy, Diaphragmatic

Distal Hereditary Motor Neuronopathy Type Vi

Distal Spinal Muscular Atrophy Type 1

Hmnvi

Spinal Muscular Atrophy With Respiratory Distress

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

Neuronopathy, Distal Hereditary Motor, 6

Dhmn Vi

Distal Hereditary Motor Neuropathy Type Vi

Severe Infantile Axonal Neuronopathy With Respiratory Failure

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Atrophy, Muscular, Spinal, Distal, Type 1

Spastic Paraplegia 19, Autosomal Dominant

SPG19

Hereditary Spastic Paraplegia 19

Autosomal Dominant Spastic Paraplegia Type 19

Autosomal Dominant Spastic Paraplegia 19

Spastic Paraplegia 19

Spastic Paraplegia-19

Nescav Syndrome

NESCAVS

Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment

Mrd9

Intellectual Disability, Autosomal Dominant 9

Mental Retardation, Autosomal Dominant 9, Formerly

Mrd9, Formerly

Autosomal Dominant Intellectual Disability 9

Autosomal Dominant Non-Syndromic Intellectual Disability 9

Mental Retardation, Autosomal Dominant 9

Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome

SPG20

Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

Spastic Paraplegia, Autosomal Recessive, Troyer Type

Autosomal Recessive Spastic Paraplegia Type 20

Autosomal Recessive Hereditary Spastic Paraplegia

Spastic Paraplegia 20

Cross-Mckusick Syndrome

Autosomal Recessive Spastic Paraplegia 20

Autosomal Recessive Spastic Paraplegia Troyer Type

Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

Hereditary Spastic Paraplegia 20

Spastic Paraplegia Type 20

Hereditary Spastic Paraplegia

Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

Spastic Paraplegia Autosomal Recessive Troyer Type

Trs

Spastic Paraplegia Hereditary Autosomal Recessive

Spastic Paraplegia, Hereditary

Distal Hereditary Motor Neuronopathy Type 7

Dhmn7

Dhmnvpy

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Arthrogryposis, Distal, Type 10

DA10

Distal Arthrogryposis Type 10

Short Achilles Tendon

Plantar Flexion Contracture

Short Tendo Calcaneus

Congenital Plantar Contractures

Tendo Calcaneus, Short

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type

Spastic Ataxia

Spax

Ataxia, Spastic

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

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
Felis catus REEP1 VGNC VGNC:64562
Rattus norvegicus REEP1 RGD RGD:1305230
Macaca mulatta REEP1 VGNC VGNC:106207
Bos taurus REEP1 VGNC VGNC:33851
Mus musculus REEP1 MGD MGI:1098827
Canis familiaris REEP1 VGNC VGNC:45460