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NUP37 nucleoporin 37 [ Homo sapiens (human) ]

Gene ID: 79023, updated on 2-Nov-2024

Summary

Official Symbol
NUP37provided by HGNC
Official Full Name
nucleoporin 37provided by HGNC
Primary source
HGNC:HGNC:29929
See related
Ensembl:ENSG00000075188 MIM:609264; AllianceGenome:HGNC:29929
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
p37; MCPH24
Summary
Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in lymph node (RPKM 10.3), testis (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

See NUP37 in Genome Data Viewer
Location:
12q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (102073103..102120114, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (102034236..102081246, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102466881..102513892, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984548 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22809 Neighboring gene neudesin neurotrophic factor pseudogene 2 Neighboring gene WASH complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:102514807-102515364 Neighboring gene PARP1 binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102546739-102547240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6880 Neighboring gene uncharacterized LOC124902998 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22888 Neighboring gene pro-melanin concentrating hormone

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Microcephaly 24, primary, autosomal recessive
MedGen: C4748555 OMIM: 618179 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Identification of 15 loci influencing height in a Korean population.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC5585, FLJ22618

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in chromosome segregation IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA transport IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
colocalizes_with kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
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 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus HDA PubMed 

General protein information

Preferred Names
nucleoporin Nup37
Names
nucleoporin 37kDa
nup107-160 subcomplex subunit Nup37

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_024057.4NP_076962.2  nucleoporin Nup37

    See identical proteins and their annotated locations for NP_076962.2

    Status: REVIEWED

    Source sequence(s)
    AC079907, BC000861, BM995521, DC420994
    Consensus CDS
    CCDS9089.1
    UniProtKB/Swiss-Prot
    Q8NFH4, Q9H644
    Related
    ENSP00000448054.1, ENST00000552283.6
    Conserved Domains (2) summary
    sd00039
    Location:2270
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:64194
    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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    102073103..102120114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429530.1XP_047285486.1  nucleoporin Nup37 isoform X1

    UniProtKB/TrEMBL
    B4DKV8
    Related
    ENST00000543021.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    102034236..102081246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373197.1XP_054229172.1  nucleoporin Nup37 isoform X1

    UniProtKB/TrEMBL
    B4DKV8