1. Gene
  2. ATCAY - ATCAY kinesin light chain interacting caytaxin Gene

ATCAY - ATCAY kinesin light chain interacting caytaxin Gene

Homo sapiens

Also known as CLAC; BNIP-H

Gene ID: 85300 | Gene type: protein coding

About ATCAY

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,880,685-3,928,082 (from NCBI)

This gene has 6 transcripts (splice variants), 268 orthologues, 3 paralogues and is associated with 2 phenotypes. Restricted expression toward brain (RPKM 41.1).

Summary

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]

ATCAY Products(1)

mRNA Protein Name
NM_033064.5 NP_149053.1 caytaxin
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables kinesin binding IPI
IPI: Inferred from physical interaction
19861499 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16275660 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of glutamate metabolic process IDA
IDA: Inferred from direct assay
16899818 GOA
involved in regulation of protein localization IDA
IDA: Inferred from direct assay
16899818 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16899818 GOA
NOT colocalizes with mitochondrion IDA
IDA: Inferred from direct assay
16899818 GOA
located in neuron projection IDA
IDA: Inferred from direct assay
16899818 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

ATCAY Protein Structure

BNIP2

BNIP2: Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2 (57 - 187)

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (189 - 326)

  • 0
  • 100
  • 200
  • 300
  • 371 a.a.
Protein Preferred Names Protein Names

caytaxin

ATCAY, caytaxin

Related Diseases

Diseases Alias
Cerebellar Ataxia, Cayman Type

Cayman Type Cerebellar Ataxia

Ataxia, Cerebellar, Cayman Type

ATCAY

Cayman Cerebellar Ataxia

Cayman Ataxia

Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders

Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities

CECBA

Cerebellar Ataxia, Nonprogressive, With Mental Retardation

Canpmr

Nonprogressive Cerebellar Ataxia With Mental Retardation

Non-Progressive Cerebellar Ataxia With Intellectual Disability

Ataxia, Cerebellar, Nonprogressive, With Mental Retardation

Cranio-Facial Dystonia

Craniofacial Dystonia

Spastic Ataxia, Charlevoix-Saguenay Type

Charlevoix-Saguenay Spastic Ataxia

Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay

Arsacs

SACS

Spax6

Spastic Ataxia Charlevoix-Saguenay Type

Spastic Ataxia 6, Autosomal Recessive

Autosomal Recessive Spastic Ataxia Type 6

Spastic Ataxia Of Charlevoix-Saguenay

Atx/Hsp-Sacs

Ataxia, Spastic, Charlevoix-Saguenay Type

Charcot-Marie-Tooth Disease, Recessive Intermediate A

Charcot-Marie-Tooth Disease Recessive Intermediate A

CMTRIA

Ri-Cmta

Charcot-Marie-Tooth Disease, Recessive Intermediate, A

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A

Charcot-Marie-Tooth Neuropathy Recessive Intermediate A

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A

Ri-Cmt Type A

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A

Ataxia With Vitamin E Deficiency

Ataxia With Isolated Vitamin E Deficiency

AVED

Familial Isolated Vitamin E Deficiency

Friedreich-Like Ataxia

Familial Isolated Deficiency Of Vitamin E

Isolated Vitamin E Deficiency

Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency

Vitamin E Deficiency, Familial Isolated

Ved

Friedreich-Like Ataxia With Selective Vitamin E Deficiency

Five

Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency

Vitamin E Familial Isolated, Deficiency Of

Ataxia Friedreich-Like With Selective Vitamin E Deficiency

Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

OMCS

Long Eyelashes-Intellectual Disability Syndrome

Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina

Eyelashes, Long, With Mental Retardation

Eyelashes Long Mental Retardation

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina

Eyelashes, Long With Intellectual Disability

Oliver Mcfarlane Syndrome

Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature

Trichomegaly, Retina Pigmentary Degeneration, Dwarfism

Trichomegaly Retina Pigmentary Degeneration Dwarfism

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Laurence-Moon Syndrome

LNMS

Laurence-Moon-Biedl Syndrome

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

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 ATCAY VGNC VGNC:38205
Rattus norvegicus ATCAY RGD RGD:1309312
Bos taurus ATCAY VGNC VGNC:26237
Felis catus ATCAY VGNC VGNC:68480
Mus musculus ATCAY MGD MGI:2448730
Macaca mulatta ATCAY VGNC VGNC:108471