SYNGR1 - synaptogyrin 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9145

About SYNGR1

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:39,349,991-39,385,575 (from NCBI)

This gene has 7 transcripts (splice variants), 242 orthologues and 3 paralogues. Biased expression in brain (RPKM 53.1), ovary (RPKM 17.1) and 11 other tissues.

Summary

This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]

SYNGR1 Products (3)

mRNA Protein Name
NM_004711.5 NP_004702.2 synaptogyrin-1 isoform 1a
NM_145731.4 NP_663783.1 synaptogyrin-1 isoform 1b
NM_145738.3 NP_663791.1 synaptogyrin-1 isoform 1c
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

SYNGR1 Protein Structure

MARVEL

MARVEL: Membrane-associating domain (21 - 167)

  • 0
  • 100
  • 200
  • 233 a.a.
Protein Preferred Names Protein Names

synaptogyrin-1

SYNGR1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SYNGR1 O43759 FATE1 Homo sapiens Q969F0 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Microcephaly, Seizures, And Developmental Delay
  • MCSZ

  • Developmental And Epileptic Encephalopathy 10

  • Epileptic Encephalopathy, Early Infantile, 10

  • Eiee10

  • Dee10

  • Early Infantile Epileptic Encephalopathy 10

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

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 SYNGR1 MGD MGI:1328323
Bos taurus SYNGR1 VGNC VGNC:35524
Rattus norvegicus SYNGR1 RGD RGD:3801
Macaca mulatta SYNGR1 VGNC VGNC:78068
Others SYNGR1 NCBI