1. Gene
  2. SEC24A - SEC24 homolog A, COPII coat complex component Gene

SEC24A - SEC24 homolog A, COPII coat complex component Gene

Homo sapiens
Gene ID: 10802 | Gene type: protein coding

About SEC24A

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:134,648,382-134,727,909 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues and 2 paralogues. Ubiquitous expression in small intestine (RPKM 10.1), duodenum (RPKM 10.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SEC24A Products(2)

mRNA Protein Name
NM_001252231.2 NP_001239160.1 protein transport protein Sec24A isoform 2
NM_021982.3 NP_068817.1 protein transport protein Sec24A isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17499046 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
18843296 GOA
Biological Process GO Annotation Evidence Reference Source
involved in COPII-coated vesicle cargo loading IDA
IDA: Inferred from direct assay
17499046 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: Inferred from mutant phenotype
20427317 GOA
Cellular Component GO Annotation Evidence Reference Source
part of COPII vesicle coat IDA
IDA: Inferred from direct assay
17499046 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

SEC24A Protein Structure

zf-Sec23_Sec24

zf-Sec23_Sec24: Sec23/Sec24 zinc finger (428 - 465)

Sec23_trunk

Sec23_trunk: Sec23/Sec24 trunk domain (501 - 739)

Sec23_BS

Sec23_BS: Sec23/Sec24 beta-sandwich domain (744 - 828)

Sec23_helical

Sec23_helical: Sec23/Sec24 helical domain (841 - 940)

Gelsolin

Gelsolin: Gelsolin repeat (966 - 1038)

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  • 1000
  • 1093 a.a.
Protein Preferred Names Protein Names

protein transport protein Sec24A

SEC24 family, member A

Related Diseases

Diseases Alias
Ceroid Lipofuscinosis, Neuronal, 8

Neuronal Ceroid Lipofuscinosis 8

CLN8

Cln8 Disease

Epilepsy Mental Deterioration Finnish Type

Northern Epilepsy

Cln8 Disease, Epmr

Cln8 Disease, Northern Epilepsy Variant

Cln8 Disease, Late Infantile

Ceroid Lipofuscinosis Neuronal 8

Ncl, Northern Epilepsy Variant

Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Progressive Epilepsy - Intellectual Disability, Finnish Type

Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

Turkish Variant Late Infantile Ncl

Ceroid Lipofuscinosis, Neuronal 8

Lipofuscinosis, Ceroid, Neuronal, Type 8

Northern Epilepsy Syndrome

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

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 SEC24A MGD MGI:1924621
Bos taurus SEC24A VGNC VGNC:34413
Rattus norvegicus SEC24A RGD RGD:1309451
Felis catus SEC24A VGNC VGNC:64967
Macaca mulatta SEC24A VGNC VGNC:77152
Canis familiaris SEC24A VGNC VGNC:45972
Others SEC24A NCBI