SEC13 - SEC13 homolog, nuclear pore and COPII coat complex component Gene

Also Known as SEC13R; npp-20; SEC13L1; D3S1231E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6396

About SEC13

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,300,931-10,321,112 (from NCBI)

This gene has 19 transcripts (splice variants), 220 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 31.7), small intestine (RPKM 28.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]

SEC13 Products (5)

mRNA Protein Name
NM_001136026.3 NP_001129498.1 protein SEC13 homolog isoform 3
NM_001136232.3 NP_001129704.1 protein SEC13 homolog isoform 2
NM_001278946.2 NP_001265875.1 protein SEC13 homolog isoform 5
NM_030673.4 NP_109598.2 protein SEC13 homolog isoform 4
NM_183352.3 NP_899195.1 protein SEC13 homolog isoform 1
Molecular Function GO Annotation Evidence Références Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
18160040 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15146057 GOA
Biological Process GO Annotation Evidence Références Source
involved in COPII-coated vesicle cargo loading IDA
IDA: Inferred from direct assay
17499046 GOA
involved in cellular response to nutrient levels IDA
IDA: Inferred from direct assay
35831510 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: Inferred from direct assay
35831510 GOA
Cellular Component GO Annotation Evidence Références Source
part of COPII vesicle coat IDA
IDA: Inferred from direct assay
17499046 GOA
part of GATOR2 complex IDA
IDA: Inferred from direct assay
35831510 GOA
colocalizes with kinetochore IDA
IDA: Inferred from direct assay
15146057 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
28199306 GOA
located in nuclear envelope IDA
IDA: Inferred from direct assay
15146057 GOA
part of nuclear pore outer ring IDA
IDA: Inferred from direct assay
17360435 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

SEC13 Protein Structure

WD40

WD40: WD domain, G-beta repeat (5 - 41)

WD40

WD40: WD domain, G-beta repeat (51 - 86)

WD40

WD40: WD domain, G-beta repeat (93 - 130)

WD40

WD40: WD domain, G-beta repeat (140 - 195)

WD40

WD40: WD domain, G-beta repeat (202 - 243)

WD40

WD40: WD domain, G-beta repeat (263 - 290)

  • 0
  • 100
  • 200
  • 300
  • 322 a.a.
Protein Preferred Names Protein Names

protein SEC13 homolog

  • GATOR complex protein SEC13

SEC13 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
SEC13 P55735 SEC16B Homo sapiens Q96JE7-2 25416956
Intra
SEC13 P55735 SEC16B Homo sapiens Q96JE7-2 25416956
Intra
SEC13 P55735 MIOS Homo sapiens Q9NXC5 33961781
Intra
SEC13 P55735 NUP37 Homo sapiens Q8NFH4 27194810
Intra
SEC13 P55735 MIOS Homo sapiens Q9NXC5 28514442
Intra
SEC13 P55735 NUP37 Homo sapiens Q8NFH4 28514442
Intra
SEC13 P55735 NUP37 Homo sapiens Q8NFH4 33961781
Intra
SEC13 P55735 SEH1L Homo sapiens Q96EE3 35271311
Intra
SEC13 P55735 MIOS Homo sapiens Q9NXC5 35271311
Intra
SEC13 P55735 NUP37 Homo sapiens Q8NFH4 35271311
Intra
SEC13 P55735 SEH1L Homo sapiens Q96EE3 33961781
Intra
SEC13 P55735 SEH1L Homo sapiens Q96EE3 27194810
Cross
SEC13 P55735 NUP145 Saccharomyces cerevisiae P49687 18160040
Cross
SEC13 P55735 NUP145 Saccharomyces cerevisiae P49687
GMS
18160040
Cross
SEC13 P55735 NUP145 Saccharomyces cerevisiae P49687 27194810
Intra
SEC13 P55735 SEC31A Homo sapiens O94979 35271311
Intra
SEC13 P55735 SEC31A Homo sapiens O94979 33961781
Intra
SEC13 P55735 TRAF5 Homo sapiens O00463 25416956
Intra
SEC13 P55735 TRAF5 Homo sapiens O00463 25416956
Intra
SEC13 P55735 SEC16B Homo sapiens Q96JE7 16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Craniolenticulosutural Dysplasia
  • Boyadjiev-Jabs Syndrome

  • CLSD

  • Cranio-Lenticulo-Sutural Dysplasia

  • Cranio-Lenticulo-Sutural Dysplasia, Clsd

Anemia, Congenital Dyserythropoietic, Type Ii
  • Congenital Dyserythropoietic Anemia Type Ii

  • CDAN2

  • Cda Ii

  • Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test

  • Cda Type Ii

  • Congenital Dyserythropoietic Anemia Type 2

  • Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test

  • Sec23b-Cdg

  • Congenital Dyserythropoietic Anemia, Type Ii

  • Dyserythropoietic Anemia, Hempas Type

  • Hempas

  • Cda Type 2

  • Dyserythropoietic Anemia, Congenital, Type Ii

  • Cda, Type Ii

  • Congenital Dyserythropoietic Anaemia Type 2

  • Congenital Dyserythropoietic Anaemia Type Ii

  • Anemia, Dyserythropoietic, Congenital Type 2

  • Hempas Anemia

  • Dyserythropoietic Anemia, Congenital Type 2

  • Anemia, Congenital Dyserythropoietic, 2

  • Dyserythropoietic Anemia Hempas Type

  • Anemia, Dyserythropoietic Congenital, Type Ii

  • Anemia, Dyserythropoietic, Congenital, Type Ii

Chylomicron Retention Disease
  • CMRD

  • Anderson Disease

  • Lipid Transport Defect Of Intestine

  • Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

  • Andd

  • Anderson Syndrome

  • Crd

  • Andersons Disease

  • Malabsorption 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
Macaca mulatta SEC13 VGNC VGNC:77149
Felis catus SEC13 VGNC VGNC:64960
Bos taurus SEC13 VGNC VGNC:34403
Rattus norvegicus SEC13 RGD RGD:1359555
Canis familiaris SEC13 VGNC VGNC:45962
Mus musculus SEC13 MGD MGI:99832
Others SEC13 NCBI