SEZ6 - seizure related 6 homolog Gene

Also Known as BSRPC

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 124925

About SEZ6

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,954,905-29,006,440 (from NCBI)

This gene has 9 transcripts (splice variants), 247 orthologues and 39 paralogues. Restricted expression toward brain (RPKM 16.6).

Summary

The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]

SEZ6 Products (3)

mRNA Protein Name
NM_001098635.2 NP_001092105.1 seizure protein 6 homolog isoform 2 precursor
NM_001290202.2 NP_001277131.1 seizure protein 6 homolog isoform 3
NM_178860.5 NP_849191.3 seizure protein 6 homolog isoform 1 precursor

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

SEZ6 Protein Structure

Sushi

Sushi: Sushi repeat (SCR repeat) (357 - 412)

CUB

CUB: CUB domain (416 - 524)

Sushi

Sushi: Sushi repeat (SCR repeat) (532 - 589)

CUB

CUB: CUB domain (593 - 695)

Sushi

Sushi: Sushi repeat (SCR repeat) (710 - 765)

Sushi

Sushi: Sushi repeat (SCR repeat) (771 - 830)

Sushi

Sushi: Sushi repeat (SCR repeat) (851 - 895)

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

seizure protein 6 homolog

SEZ6 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
SEZ6 Q53EL9 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra
SEZ6 Q53EL9 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra
SEZ6 Q53EL9 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SEZ6 Proteins

製品番号 製品名 アクセッション番号 純度
HY-P78036 SEZ6/BSRP-C Protein, Human (HEK293, His) Q53EL9-1 (L20-H925) ≥ 95%, as determined by Bis-Tris PAGE.

関連疾患

Diseases Alias
Childhood-Onset Schizophrenia

  • Childhood Schizophrenia

  • Schizophrenia, Childhood
Febrile Seizures

  • Febrile Seizure

  • Febrile Convulsions

  • Seizures Febrile
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

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
製品番号 製品名 製品効果
純度 Phase
HY-170554 ABBV-706 Inhibitor 99.71% Phase 3

Pre-clinical Phase

Bioactive Molecules (9)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS12753 SEZ6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12754 SEZ6L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12755 SEZ6L2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18260 Sez6 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18545 Sez6l Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19527 Sez6l2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24739 Sez6 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25027 Sez6l Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26022 Sez6l2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
阻害性抗体 (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-P991041 Turmetabart 99.75% Unkown

Orthologs Information

生物種 Symbol 由来 ID
Felis catus SEZ6 VGNC VGNC:65049
Canis familiaris SEZ6 VGNC VGNC:46063
Rattus norvegicus SEZ6 RGD RGD:619780
Bos taurus SEZ6 VGNC VGNC:34502
Macaca mulatta SEZ6 VGNC VGNC:77240
Mus musculus SEZ6 MGD MGI:104745
Others SEZ6 NCBI