NDC1 - NDC1 transmembrane nucleoporin Gene

Homo sapiens

Also known as NET3; TMEM48

Gene ID: 55706 | Gene type: protein coding

About NDC1

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:53,765,478-53,838,296 (from NCBI)

This gene has 2 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in lymph node (RPKM 8.4), colon (RPKM 6.8) and 25 other tissues.

Summary

A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and nuclear pore localization. Located in actin cytoskeleton; nuclear membrane; and plasma membrane. Part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022]

NDC1 Products(2)

mRNA	Protein	Name
NM_001168551.2	NP_001162023.1	nucleoporin NDC1 isoform 2
NM_018087.5	NP_060557.3	nucleoporin NDC1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables structural constituent of nuclear pore	IMP IMP: Inferred from mutant phenotype	16600873	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in nuclear pore complex assembly	IMP IMP: Inferred from mutant phenotype	16600873	GOA
involved in nuclear pore localization	IMP IMP: Inferred from mutant phenotype	16600873	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	16600873	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

NDC1 Protein Structure

Ndc1_Nup

0
200
400
600
674 a.a.

Protein Preferred Names

Protein Names

nucleoporin NDC1

nuclear division cycle 1 homolog

Related Diseases

Diseases

Alias

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome	Triple-A Syndrome
Achalasia-Addisonianism-Alacrimia Syndrome	Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
Triple A Syndrome	Aaa Syndrome
AAAS	Glucocorticoid Deficiency With Achalasia
Glucocorticoid Deficiency And Achalasia	Addisonian-Achalasia Syndrome
Hypoadrenalism With Achalasia	Alacrima-Achalasia-Addisonianism
Aaa	Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima
Achalasia Addisonianism Alacrimia Syndrome	Achalasia Alacrima Syndrome
Addisonian Achalasia Syndrome	Achalasia-Addisonian Syndrome
Achalasia-Alacrima Syndrome	2a Syndrome
3a Syndrome	4a Syndrome
Adrenal Insufficiency-Achalasia-Alacrima Syndrome	Double A Syndrome
Quaternary A Syndrome	Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima
Allgrove'S Syndrome	Adrenal Gland Hypofunction
Adrenal Cortical Hypofunction

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-RS09104	NDC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NDC1	VGNC	VGNC:43669
Felis catus	NDC1	VGNC	VGNC:63746
Mus musculus	NDC1	MGD	MGI:1920037
Rattus norvegicus	NDC1	RGD	RGD:1560173
Bos taurus	NDC1	VGNC	VGNC:31930
Others	NDC1	NCBI

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