ATCAY - ATCAY kinesin light chain interacting caytaxin Gene

Also Known as CLAC; BNIP-H

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 85300

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

ATCAY Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATCAY Q86WG3 STUB1 Homo sapiens Q9UNE7 16275660
Intra
ATCAY Q86WG3 STUB1 Homo sapiens Q9UNE7
Y2H
16275660
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others ATCAY NCBI