ATL1 - atlastin GTPase 1 Gene

Also Known as FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51062

About ATL1

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:50,533,082-50,633,068 (from NCBI)

This gene has 23 transcripts (splice variants), 214 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 34.8), endometrium (RPKM 5.1) and 15 other tissues.

Summary

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATL1 Products (3)

mRNA Protein Name
NM_001127713.1 NP_001121185.1 atlastin-1 isoform b
NM_015915.5 NP_056999.2 atlastin-1 isoform a
NM_181598.4 NP_853629.2 atlastin-1 isoform b
Molecular Function GO Annotation Evidence References Source
enables GTPase activity IDA
IDA: Inferred from direct assay
14506257 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
14506257 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21220294 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16815977 GOA
Biological Process GO Annotation Evidence References Source
involved in endoplasmic reticulum organization IDA
IDA: Inferred from direct assay
19665976 GOA
involved in endoplasmic reticulum tubular network membrane organization IMP
IMP: Inferred from mutant phenotype
27619977 GOA
involved in protein homooligomerization IDA
IDA: Inferred from direct assay
14506257 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
19665976 GOA
located in endoplasmic reticulum tubular network membrane IDA
IDA: Inferred from direct assay
27619977 GOA
located in membrane IDA
IDA: Inferred from direct assay
14506257 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

ATL1 Protein Structure

GBP

GBP: Guanylate-binding protein, N-terminal domain (43 - 312)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 558 a.a.
Protein Preferred Names Protein Names

atlastin-1

  • GBP-3

ATL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATL1 Q8WXF7 NF2 Homo sapiens P35240 32814053
Intra
ATL1 Q8WXF7 NF2 Homo sapiens P35240 32814053
Intra
ATL1 Q8WXF7 NF2 Homo sapiens P35240 32814053
Intra
ATL1 Q8WXF7 CISD2 Homo sapiens Q8N5K1 32814053
Intra
ATL1 Q8WXF7 CISD2 Homo sapiens Q8N5K1 32814053
Intra
ATL1 Q8WXF7 CISD2 Homo sapiens Q8N5K1 32814053
Intra
ATL1 Q8WXF7 YARS1 Homo sapiens P54577 32814053
Intra
ATL1 Q8WXF7 YARS1 Homo sapiens P54577 32814053
Intra
ATL1 Q8WXF7 YARS1 Homo sapiens P54577 32814053
Intra
ATL1 Q8WXF7 JPH3 Homo sapiens Q8WXH2 32814053
Intra
ATL1 Q8WXF7 JPH3 Homo sapiens Q8WXH2 32814053
Intra
ATL1 Q8WXF7 JPH3 Homo sapiens Q8WXH2 32814053
Intra
ATL1 Q8WXF7 RAB7A Homo sapiens P51149 32814053
Intra
ATL1 Q8WXF7 RAB7A Homo sapiens P51149 32814053
Intra
ATL1 Q8WXF7 RAB7A Homo sapiens P51149 32814053
Intra
ATL1 Q8WXF7 DNM2 Homo sapiens P50570-2 32814053
Intra
ATL1 Q8WXF7 DNM2 Homo sapiens P50570-2 32814053
Intra
ATL1 Q8WXF7 DNM2 Homo sapiens P50570-2 32814053
Intra
ATL1 Q8WXF7 PPT1 Homo sapiens P50897 32814053
Intra
ATL1 Q8WXF7 PPT1 Homo sapiens P50897 32814053
Intra
ATL1 Q8WXF7 PPT1 Homo sapiens P50897 32814053
Intra
ATL1 Q8WXF7 ehd27213144 Homo sapiens EBI-25865403 32814053
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7 21368113
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7 23334294
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7 21368113
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7 23334294
Intra
ATL1 Q8WXF7 ccsb_9919 Homo sapiens EBI-25847655 32814053
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7
GMS
23334294
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7
GMS
21368113
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7
SLS
21220294
Intra
ATL1 Q8WXF7 ehd27213144 Homo sapiens EBI-25865403 32814053
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7 21220294
Intra
ATL1 Q8WXF7 ccsb_9919 Homo sapiens EBI-25847655 32814053
Intra
ATL1 Q8WXF7 ehd27213144 Homo sapiens EBI-25865403 32814053
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7
GMS
21220294
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7 21220294
Intra
ATL1 Q8WXF7 ccsb_9919 Homo sapiens EBI-25847655 32814053
Intra
ATL1 Q8WXF7 ATL1 Homo sapiens Q8WXF7 21368113
Intra
ATL1 Q8WXF7 PEX7 Homo sapiens O00628-2 32814053
Intra
ATL1 Q8WXF7 PEX7 Homo sapiens O00628-2 32814053
Intra
ATL1 Q8WXF7 PEX7 Homo sapiens O00628-2 32814053
Intra
ATL1 Q8WXF7 PANK2 Homo sapiens Q9BZ23-2 32814053
Intra
ATL1 Q8WXF7 PANK2 Homo sapiens Q9BZ23-2 32814053
Intra
ATL1 Q8WXF7 PANK2 Homo sapiens Q9BZ23-2 32814053
Intra
ATL1 Q8WXF7 ZFYVE27 Homo sapiens Q5T4F4 23969831
Intra
ATL1 Q8WXF7 SMN1 Homo sapiens Q16637 32814053
Intra
ATL1 Q8WXF7 SMN1 Homo sapiens Q16637 32814053
Intra
ATL1 Q8WXF7 SMN1 Homo sapiens Q16637 32814053
Intra
ATL1 Q8WXF7 HTT Homo sapiens P42858 32814053
Intra
ATL1 Q8WXF7 SPRED1 Homo sapiens Q7Z699 32814053
Intra
ATL1 Q8WXF7 SPRED1 Homo sapiens Q7Z699 32814053
Intra
ATL1 Q8WXF7 SPRED1 Homo sapiens Q7Z699 32814053
Intra
ATL1 Q8WXF7 NDUFV2 Homo sapiens P19404 32814053
Intra
ATL1 Q8WXF7 NDUFV2 Homo sapiens P19404 32814053
Intra
ATL1 Q8WXF7 NDUFV2 Homo sapiens P19404 32814053
Intra
ATL1 Q8WXF7 OPTN Homo sapiens Q96CV9 32814053
Intra
ATL1 Q8WXF7 OPTN Homo sapiens Q96CV9 32814053
Intra
ATL1 Q8WXF7 OPTN Homo sapiens Q96CV9 32814053
Intra
ATL1 Q8WXF7 PRPH Homo sapiens P41219 32814053
Intra
ATL1 Q8WXF7 PRPH Homo sapiens P41219 32814053
Intra
ATL1 Q8WXF7 PRPH Homo sapiens P41219 32814053
Intra
ATL1 Q8WXF7 PRNP Homo sapiens P04156 32814053
Intra
ATL1 Q8WXF7 PRNP Homo sapiens P04156 32814053
Intra
ATL1 Q8WXF7 PRNP Homo sapiens P04156 32814053
Cross
ATL1 Q8WXF7 Rtn4 Rattus norvegicus Q9JK11-3 19665976
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ATL1 Proteins

Cat. No. Product Name Accession Purity
HY-P77214 SPG3A/ATL1 Protein, Human (sf9, His) Q8WXF7-1 (M1-T447) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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

Neuropathy, Hereditary Sensory, Type Id
  • HSN1D

  • Hereditary Sensory Neuropathy Type 1d

  • Neuropathy, Hereditary Sensory, Type 1d

  • Neuropathy, Hereditary Sensory, 1d

  • Hereditary Sensory Neuropathy Type Id

  • Neuropathy, Sensory, Hereditary, Type Id

Spastic Paraplegia 3a
  • Spg3a

  • Atl1-Hsp

  • Spastic Paraplegia Type 3a

  • Spastic Paraplegia 3

  • Spastic Paraplegia 3, Autosomal Dominant

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

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]

Paraplegia
  • Paraplegia, Lower

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

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

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

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

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

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

Spastic Paraplegia 6, Autosomal Dominant
  • SPG6

  • Fsp3

  • Hereditary Spastic Paraplegia 6

  • Autosomal Dominant Spastic Paraplegia Type 6

  • Spastic Paraplegia 6

  • Familial Spastic Paraplegia Autosomal Dominant 3

  • Familial Spastic Paraplegia, Autosomal Dominant, 3

  • Autosomal Dominant Familial Spastic Paraplegia Type 3

  • Autosomal Dominant Spastic Paraplegia 6

  • Spastic Paraplegia-6

  • Paraplegia, Spastic, Type 6

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Spastic Paraplegia 14, Autosomal Recessive
  • SPG14

  • Hereditary Spastic Paraplegia 14

  • Autosomal Recessive Spastic Paraplegia Type 14

  • Autosomal Recessive Spastic Paraplegia 14

  • Spastic Paraplegia 14

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 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

Spastic Paraplegia 43, Autosomal Recessive
  • SPG43

  • Hereditary Spastic Paraplegia 43

  • Autosomal Recessive Spastic Paraplegia Type 43

  • Autosomal Recessive Spastic Paraplegia 43

  • Paraplegia, Spastic, Type 43, Autosomal Recessive

Retinitis Pigmentosa 3
  • RP3

  • Retinitis Pigmentosa 15

  • Rp15

  • Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women

  • Cone-Rod Degeneration, X-Linked

  • Retinitis Pigmentosa Type 15

  • X-Linked Cone-Rod Degeneration

  • X-Linked Retinitis Pigmentosa 3

  • Xlrp3

  • Xlrp-3

  • Retinitis Pigmentosa-3

  • Retinitis Pigmentosa, Type 3

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Hereditary Spastic Paraplegia 30
  • Autosomal Spastic Paraplegia Type 30

  • Spg30

  • Autosomal Recessive Spastic Paraplegia 30

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

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 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

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 36, Autosomal Dominant
  • SPG36

  • Hereditary Spastic Paraplegia 36

  • Autosomal Dominant Spastic Paraplegia Type 36

  • Autosomal Dominant Spastic Paraplegia 36

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

Hereditary Spastic Paraplegia 49
  • Autosomal Recessive Spastic Paraplegia Type 49

  • Autosomal Recessive Spastic Paraplegia 49

  • Spg49

  • Paraplegia, Spastic, Type 49, Autosomal Recessive

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]

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 24, Autosomal Recessive
  • SPG24

  • Spastic Paraplegia 24

  • Hereditary Spastic Paraplegia 24

  • Autosomal Recessive Spastic Paraplegia Type 24

  • Autosomal Recessive Spastic Paraplegia 24

Spastic Paraplegia 53, Autosomal Recessive
  • SPG53

  • Hereditary Spastic Paraplegia 53

  • Autosomal Recessive Spastic Paraplegia Type 53

  • Autosomal Recessive Spastic Paraplegia 53

  • Paraplegia, Spastic, Type 53, Autosomal Recessive

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

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

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

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, Optic Atrophy, And Neuropathy
  • Spoan Syndrome

  • SPOAN

  • Spastic Paraplegia, Optic Atropy, And Neuropathy

  • Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome

  • Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome

Spastic Paraplegia 8, Autosomal Dominant
  • SPG8

  • Hereditary Spastic Paraplegia 8

  • Autosomal Dominant Spastic Paraplegia Type 8

  • Autosomal Dominant Spastic Paraplegia 8

  • Paraplegia, Spastic, Autosomal Dominant, Type 8

Spastic Paraplegia 34, X-Linked
  • SPG34

  • Hereditary Spastic Paraplegia 34

  • X-Linked Spastic Paraplegia Type 34

  • X-Linked Spastic Paraplegia 34

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

Friedreich Ataxia
  • Friedreich Ataxia 1

  • FRDA

  • Friedreich Ataxia With Retained Reflexes

  • Frda1

  • Fa

  • Friedreich'S Ataxia

  • Hereditary Spinal Ataxia

  • Fa1

  • Friedreich'S Tabes

  • Hereditary Spinal Sclerosis

  • Spinocerebellar Ataxia, Friedreich

  • Friedreich Spinocerebellar Ataxia

  • Friedrich'S Ataxia

Spastic Cerebral Palsy
  • Palsy, Cerebral, Spastic

  • Infantile Hemiplegia Nos

  • Postnatal Infantile Hemiplegia Nos

  • Congenital Spastic Hemiplegia

  • Spastic Hemiplegic Cerebral Palsy

  • Congenital Hemiplegia Nos

  • Hemiplegic Cerebral Palsy

  • Hemiplegic Infantile Cerebral Palsy

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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

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
Canis familiaris ATL1 VGNC VGNC:38230
Macaca mulatta ATL1 VGNC VGNC:70049
Felis catus ATL1 VGNC VGNC:60008
Rattus norvegicus ATL1 RGD RGD:1359232
Bos taurus ATL1 VGNC VGNC:26265
Mus musculus ATL1 MGD MGI:1921241
Others ATL1 NCBI