1. Gene
  2. TRAK1 - trafficking kinesin protein 1 Gene

TRAK1 - trafficking kinesin protein 1 Gene

Homo sapiens

Also known as DEE68; MILT1; EIEE68; OIP106

Gene ID: 22906 | Gene type: protein coding

About TRAK1

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:42,013,093-42,225,890 (from NCBI)

This gene has 12 transcripts (splice variants), 216 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 17.5), stomach (RPKM 12.1) and 24 other tissues.

Summary

Predicted to enable GABA Receptor binding activity and Myosin binding activity. Involved in endosome to lysosome transport. Located in early endosome and mitochondrion. Implicated in developmental and epileptic encephalopathy 68. [provided by Alliance of Genome Resources, Apr 2022]

TRAK1 Products(11)

mRNA Protein Name
NM_001042646.3 NP_001036111.1 trafficking kinesin-binding protein 1 isoform 1
NM_001265608.2 NP_001252537.1 trafficking kinesin-binding protein 1 isoform 3
NM_001265609.2 NP_001252538.1 trafficking kinesin-binding protein 1 isoform 4
NM_001265610.1 NP_001252539.1 trafficking kinesin-binding protein 1 isoform 5
NM_001349245.1 NP_001336174.1 trafficking kinesin-binding protein 1 isoform 6
NM_001349246.2 NP_001336175.1 trafficking kinesin-binding protein 1 isoform 7
NM_001349247.2 NP_001336176.1 trafficking kinesin-binding protein 1 isoform 8
NM_001349248.1 NP_001336177.1 trafficking kinesin-binding protein 1 isoform 9
NM_001349249.1 NP_001336178.1 trafficking kinesin-binding protein 1 isoform 10
NM_001410741.1 NP_001397670.1 trafficking kinesin-binding protein 1 isoform 11
NM_014965.5 NP_055780.2 trafficking kinesin-binding protein 1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15644324 GOA
Biological Process GO Annotation Evidence Reference Source
involved in endosome to lysosome transport IDA
IDA: Inferred from direct assay
18675823 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
19528298 GOA
located in early endosome IDA
IDA: Inferred from direct assay
18675823 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
15644324 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

TRAK1 Protein Structure

HAP1_N

HAP1_N: HAP1 N-terminal conserved region (48 - 354)

Milton

Milton: Kinesin associated protein (412 - 583)

Milton

Milton: Kinesin associated protein (723 - 855)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 953 a.a.
Protein Preferred Names Protein Names

trafficking kinesin-binding protein 1

106 kDa O-GlcNAc transferase-interacting protein

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 68

DEE68

Epileptic Encephalopathy, Early Infantile, 68

Eiee68

Developmental And Epileptic Encephalopathy, 68

Early Infantile Epileptic Encephalopathy 68

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Status Epilepticus

Grand Mal Status Epilepticus

Grand Mal Status

Gcse

Generalized Convulsive Status Epilepticus

Se

Epilepsy With Status Epilepticus

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Hypertonia
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

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

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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
Mus musculus TRAK1 MGD MGI:1914345
Bos taurus TRAK1 VGNC VGNC:97320
Macaca mulatta TRAK1 VGNC VGNC:79830
Rattus norvegicus TRAK1 RGD RGD:1307844
Felis catus TRAK1 VGNC VGNC:66505
Canis familiaris TRAK1 VGNC VGNC:47773