SEH1L SEH1 like nucleoporin [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEH1Lprovided by HGNC
Official Full Name: SEH1 like nucleoporinprovided by HGNC
Primary source: HGNC:HGNC:30379
See related: Ensembl:ENSG00000085415 MIM:609263; AllianceGenome:HGNC:30379
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Seh1; SEH1A; SEH1B; SEC13L
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]
Expression: Ubiquitous expression in brain (RPKM 9.1), lymph node (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.21

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (12948011..12987536)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (13110691..13150271)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (12948010..12987535)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis reveals a role for Seh1 at human centromeres, where it is required for efficient localisation of the chromosomal passenger complex (CPC).
Title: Seh1 targets GATOR2 and Nup153 to mitotic chromosomes.
The assembly of soluble Nup107-160 complexes into higher order structures occurs only at sites on the chromatin surface that are already covered with the nuclear envelope.
Title: Formation of the postmitotic nuclear envelope from extended ER cisternae precedes nuclear pore assembly.
Sec13 stably interacts with Nup96 at the NPC during interphase and the shuttling of Sec13 between the nucleus and the cytoplasm may couple and regulate functions between these two compartments
Title: Sec13 shuttles between the nucleus and the cytoplasm and stably interacts with Nup96 at the nuclear pore complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with SEH1-like (SEH1L) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with SEH1-like (SEH1L) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH42021 (e-PCR)
- UniSTS:88604

D8S2279 (e-PCR)
- UniSTS:473907

RH47087 (e-PCR)
- UniSTS:78413

D18S1328 (e-PCR)
- UniSTS:83540

L18426 (e-PCR)
- UniSTS:34648

G20806 (e-PCR)
- UniSTS:22879

A006H17 (e-PCR)
- UniSTS:22880

G33182 (e-PCR)
- UniSTS:6647

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in attachment of mitotic spindle microtubules to kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to amino acid starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of TORC1 signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in nuclear pore organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of TORC1 signaling	NAS Non-traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of GATOR2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of GATOR2 complex	NAS Non-traceable Author Statement more info	PubMed
part_of Seh1-associated complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	TAS Traceable Author Statement more info
part_of nuclear pore	NAS Non-traceable Author Statement more info	PubMed
part_of nuclear pore outer ring	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear pore outer ring	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear pore outer ring	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: nucleoporin SEH1

Names: GATOR complex protein SEH1; GATOR2 complex protein SEH1; SEC13-like protein; nup107-160 subcomplex subunit SEH1; sec13 like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001013437.2 → NP_001013455.1 nucleoporin SEH1 isoform 1

See identical proteins and their annotated locations for NP_001013455.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).

Source sequence(s)

AF136976, AK056940, BC012430, CB990796

Consensus CDS

CCDS32791.1

UniProtKB/Swiss-Prot

Q96EE3

Related

ENSP00000382779.1, ENST00000399892.7

Conserved Domains (3) summary

COG2319
Location:11 → 330

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl02567
Location:11 → 306

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_031216.4 → NP_112493.2 nucleoporin SEH1 isoform 2

See identical proteins and their annotated locations for NP_112493.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additonal segment in the 3' coding region, as compared to variant 1. The encoded isoform 2 has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

AF136976, BC012430, CB990796

Consensus CDS

CCDS45832.1

UniProtKB/Swiss-Prot

A8K5B1, Q8NFU6, Q96EE3, Q96MH3, Q9C069

Related

ENSP00000262124.10, ENST00000262124.15

Conserved Domains (2) summary

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl29593
Location:11 → 306

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

12948011..12987536

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525744.2 → XP_011524046.1 nucleoporin SEH1 isoform X3

Conserved Domains (3) summary

COG2319
Location:11 → 328

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl02567
Location:11 → 326

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_017026025.2 → XP_016881514.1 nucleoporin SEH1 isoform X5
XM_011525742.4 → XP_011524044.1 nucleoporin SEH1 isoform X1

Conserved Domains (3) summary

COG2319
Location:11 → 328

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl02567
Location:11 → 326

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_011525743.3 → XP_011524045.1 nucleoporin SEH1 isoform X2

Conserved Domains (3) summary

COG2319
Location:6 → 279

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl02567
Location:11 → 299

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_005258152.5 → XP_005258209.1 nucleoporin SEH1 isoform X4

Conserved Domains (3) summary

COG2319
Location:6 → 259

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl02567
Location:11 → 279

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...