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SEH1L - SEH1 like nucleoporin Gene

Also Known as Seh1; SEH1A; SEH1B; SEC13L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81929

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24315095	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in attachment of mitotic spindle microtubules to kinetochore	IMP IMP: Inferred from mutant phenotype	17363900	GOA
involved in cellular response to amino acid starvation	IMP IMP: Inferred from mutant phenotype	23723238	GOA
involved in cellular response to nutrient levels	IDA IDA: Inferred from direct assay	35831510	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	17363900	GOA
involved in nuclear pore organization	IMP IMP: Inferred from mutant phenotype	15146057	GOA
involved in positive regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	35831510	GOA
involved in positive regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	25457612	GOA
involved in protein-containing complex localization	IMP IMP: Inferred from mutant phenotype	23723238	GOA

Cellular Component GO Annotation	Evidence	References	Source
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	24315095	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

SEH1L Protein Structure

WD40

0
100
200
300
360 a.a.

Protein Preferred Names	Protein Names
nucleoporin SEH1	GATOR complex protein SEH1

SEH1L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SEH1L	Q96EE3	SEC13	Homo sapiens	P55735	Anti Tag CoIP	26496610
Intra	SEH1L	Q96EE3	SEC13	Homo sapiens	P55735	BiFC	27194810
Intra	SEH1L	Q96EE3	NUP85	Homo sapiens	Q9BW27	Anti Tag CoIP	26496610

Cross: Cross-species interaction Intra: Intraspecies interaction

SEH1L Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82174	SEH1L Antibody (YA1919)	WB, IP	Human, Mouse, Rat
HY-P82174A	SEH1L Antibody (YA1919)(PBS only)	WB, IP	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12629	SEH1L Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SEH1L	NCBI