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

Homo sapiens

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

Gene ID: 6396 | Gene type: protein coding

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

SEC13 Protein Structure

WD40

0
100
200
300
322 a.a.

Protein Preferred Names

Protein Names

protein SEC13 homolog

GATOR complex protein SEC13

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12605	SEC13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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