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SEH1L SEH1 like nucleoporin [ Homo sapiens (human) ]

Gene ID: 81929, updated on 6-Nov-2022

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
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Genomic context

See SEH1L in Genome Data Viewer
Location:
18p11.21
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12948011..12987536)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (13110691..13150271)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12948010..12987535)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4A2 pseudogene 1 Neighboring gene serine/threonine kinase 25 pseudogene 1 Neighboring gene centrosomal protein 192 Neighboring gene Sharpr-MPRA regulatory region 6122

Genomic regions, transcripts, and products

Expression

  • Project title: 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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
involved_in cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
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 plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of TORC1 signaling IC
Inferred by Curator
more info
PubMed 
involved_in nuclear pore organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleocytoplasmic transport IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of TORC1 signaling IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
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 IC
Inferred by Curator
more info
PubMed 
part_of GATOR2 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Seh1-associated complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IC
Inferred by Curator
more info
PubMed 
part_of nuclear pore outer ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
nucleoporin SEH1
Names
GATOR 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)

  1. NM_001013437.2NP_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:11330
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1555
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:11306
    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 ...
  2. NM_031216.4NP_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
    Q96EE3, Q9C069
    Related
    ENSP00000262124.10, ENST00000262124.15
    Conserved Domains (2) summary
    sd00039
    Location:1555
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:11306
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    12948011..12987536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525744.2XP_011524046.1  nucleoporin SEH1 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:11328
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1555
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:11326
    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 ...
  2. XM_017026025.2XP_016881514.1  nucleoporin SEH1 isoform X5

  3. XM_011525742.4XP_011524044.1  nucleoporin SEH1 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:11328
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1555
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:11326
    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 ...
  4. XM_011525743.3XP_011524045.1  nucleoporin SEH1 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:6279
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1555
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:11299
    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 ...
  5. XM_005258152.5XP_005258209.1  nucleoporin SEH1 isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:6259
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1555
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:11279
    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 ...

RNA

  1. XR_007066232.1 RNA Sequence

  2. XR_007066233.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    13110691..13150271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)