SEH1L - SEH1 like nucleoporin Gene

Homo sapiens

Also known as Seh1; SEH1A; SEH1B; SEC13L

Gene ID: 81929 | Gene type: protein coding

About SEH1L

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,948,011-12,987,536 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 9.1), lymph node (RPKM 7.7) and 25 other tissues.

Summary

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEH1L Products(2)

mRNA	Protein	Name
NM_001013437.2	NP_001013455.1	nucleoporin SEH1 isoform 1
NM_031216.4	NP_112493.2	nucleoporin SEH1 isoform 2

SEH1L Protein Structure

WD40

0
100
200
300
360 a.a.

Protein Preferred Names

Protein Names

nucleoporin SEH1

GATOR complex protein SEH1

Related Diseases

Diseases

Alias

Nail Disorder, Nonsyndromic Congenital, 4

Anonychia Congenita	Anonychia
Hyponychia Congenita	NDNC4
Anonychia/Hyponychia Congenita	Nonsyndromic Congenital Nail Disorder 4
Isolated Congenital Anonychia	Anonychia Congenita Totalis
Anonychia Totalis	Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4
Congenital Anonychia	Nonsyndromic Congenital Nail Disorder, 4
Absent Nails	Aplastic Nails
Congenital Absence Of Nails	Isolated Anonychia
Nail Disorder, Non-Syndromic Congenital, 4	Nail Disorder, Nonsyndromic, Congenital, Type 4

Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital

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-RS12629	SEH1L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SEH1L	RGD	RGD:6490353
Felis catus	SEH1L	VGNC	VGNC:64977
Bos taurus	SEH1L	VGNC	VGNC:34420
Mus musculus	SEH1L	MGD	MGI:1919374

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