MTCL1 - microtubule crosslinking factor 1 Gene

Also Known as SOGA2; CCDC165; KIAA0802

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23255

About MTCL1

Cytogenetic location: 18p11.22 Genomic coordinates (GRCh38): 18:8,705,556-8,832,778 (from NCBI)

This gene has 17 transcripts (splice variants), 216 orthologues and 2 paralogues. Broad expression in testis (RPKM 4.1), gall bladder (RPKM 3.9) and 22 other tissues.

Summary

Enables microtubule binding activity. Predicted to be involved in establishment or maintenance of epithelial cell apical/basal polarity; microtubule bundle formation; and positive regulation of protein targeting to membrane. Located in midbody and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]

MTCL1 Products (6)

mRNA Protein Name
NM_001378205.1 NP_001365134.1 microtubule cross-linking factor 1 isoform 1
NM_001378206.1 NP_001365135.1 microtubule cross-linking factor 1 isoform 2
NM_001378207.1 NP_001365136.1 microtubule cross-linking factor 1 isoform 3
NM_001395220.1 NP_001382149.1 microtubule cross-linking factor 1 isoform 5
NM_001395333.1 NP_001382262.1 microtubule cross-linking factor 1 isoform 6
NM_015210.4 NP_056025.2 microtubule cross-linking factor 1 isoform 4
Molecular Function GO Annotation Evidence References Source
enables microtubule binding IDA
IDA: Inferred from direct assay
23902687 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23902687 GOA
Biological Process GO Annotation Evidence References Source
involved in chromosome segregation IMP
IMP: Inferred from mutant phenotype
33587225 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoskeleton IDA
IDA: Inferred from direct assay
23902687 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
33587225 GOA
located in midbody IDA
IDA: Inferred from direct assay
23902687 GOA
located in spindle microtubule IDA
IDA: Inferred from direct assay
33587225 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
23902687 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

MTCL1 Protein Structure

SOGA

SOGA: Protein SOGA (500 - 595)

SOGA

SOGA: Protein SOGA (629 - 722)

DUF4482

DUF4482: Domain of unknown function (DUF4482) (1228 - 1366)

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  • 1905 a.a.
Protein Preferred Names Protein Names

microtubule cross-linking factor 1

  • PAR-1-interacting protein

Related Diseases

Diseases Alias
Cerebellar Ataxia Type 47
  • Sca47

Developmental And Epileptic Encephalopathy 28
  • DEE28

  • Epileptic Encephalopathy, Early Infantile, 28

  • Eiee28

  • Developmental And Epileptic Encephalopathy, 28

  • Early Infantile Epileptic Encephalopathy 28

  • Encephalopathy, Epileptic, Early Infantile, Type 28

Spinocerebellar Ataxia, Autosomal Recessive 12
  • Autosomal Recessive Spinocerebellar Ataxia 12

  • SCAR12

  • Spinocerebellar Ataxia With Mental Retardation And Epilepsy

  • Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

  • Autosomal Recessive Spinocerebellar Ataxia Type 12

  • Spinocerebellar Ataxia, Autosomal Recessive, 12

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Niemann-Pick Disease, Type C1
  • Niemann-Pick Disease, Type C

  • NPC1

  • Niemann-Pick Disease, Type D

  • Niemann-Pick Disease Type C1

  • Niemann-Pick Disease With Cholesterol Esterification Block

  • Niemann-Pick Disease, Subacute Juvenile Form

  • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

  • Npc

  • Niemann-Pick Disease, Chronic Neuronopathic Form

  • Niemann-Pick Disease Without Sphingomyelinase Deficiency

  • Niemann-Pick Disease Type C

  • Niemann-Pick Disease Type D

  • Niemann-Pick C1 Disease

  • Niemann-Pick Disease C1

  • Niemann-Pick Disease Chronic Neuronopathic Form

  • Niemann-Pick Disease Nova Scotian Type

  • Niemann-Pick Disease Subacute Juvenile Form

  • Niemann-Pick Disease Type Ii

  • Niemann-Picks Disease Type C

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
Rattus norvegicus MTCL1 RGD RGD:1308319
Mus musculus MTCL1 MGD MGI:1915867
Felis catus MTCL1 VGNC VGNC:63642
Canis familiaris MTCL1 VGNC VGNC:43460
Macaca mulatta MTCL1 VGNC VGNC:74852
Bos taurus MTCL1 VGNC VGNC:31718