EXOC4 - exocyst complex component 4 Gene

Also Known as SEC8; Sec8p; SEC8L1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 60412

About EXOC4

Cytogenetic location: 7q33 Genomic coordinates (GRCh38): 7:133,253,078-134,100,951 (from NCBI)

This gene has 24 transcripts (splice variants) and 212 orthologues. Ubiquitous expression in thyroid (RPKM 6.6), brain (RPKM 6.1) and 25 other tissues.

Summary

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

EXOC4 Products (2)

mRNA Protein Name
NM_001037126.2 NP_001032203.1 exocyst complex component 4 isoform b
NM_021807.4 NP_068579.3 exocyst complex component 4 isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17043677 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
26638075 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

EXOC4 Protein Structure

Sec8_exocyst

Sec8_exocyst: Sec8 exocyst complex component specific domain (34 - 144)

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

exocyst complex component 4

  • SEC8-like 1

EXOC4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EXOC4 Q96A65 SPAG9 Homo sapiens O60271
IF
25244576
Intra
EXOC4 Q96A65 EXOC1 Homo sapiens Q9NV70
TAP
27173435
Intra
EXOC4 Q96A65 EXOC1 Homo sapiens Q9NV70
Y2H
17043677
Intra
EXOC4 Q96A65 BIRC6 Homo sapiens Q9NR09 18329369
Intra
EXOC4 Q96A65 MTM1 Homo sapiens Q13496 26760201
Intra
EXOC4 Q96A65 EGFR Homo sapiens P00533 25594178
Intra
EXOC4 Q96A65 EXOC8 Homo sapiens Q8IYI6
TAP
27173435
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Meckel Syndrome, Type 1
  • Meckel-Gruber Syndrome

  • Meckel Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Bardet-Biedl Syndrome 17
  • BBS17

  • Bardet-Biedl Syndrome, Type 17

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

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

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 EXOC4 VGNC VGNC:40514
Felis catus EXOC4 VGNC VGNC:80029
Macaca mulatta EXOC4 VGNC VGNC:81310
Mus musculus EXOC4 MGD MGI:1096376
Bos taurus EXOC4 VGNC VGNC:28648
Rattus norvegicus EXOC4 RGD RGD:621791
Others EXOC4 NCBI