NUP37 nucleoporin 37 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUP37provided by HGNC
Official Full Name: nucleoporin 37provided by HGNC
Primary source: HGNC:HGNC:29929
See related: Ensembl:ENSG00000075188 MIM:609264
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: mouse all

Genomic context

Location:: 12q23.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (102073103..102120131, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (102467967..102514025, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Identification of 15 loci influencing height in a Korean population.

Submit: New GeneRIF Correction

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

Associated conditions

Description	Tests
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE MedGen: C4748555 OMIM: 618179 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the NUP37 gene: The NUP37 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 320 organisms have orthologs with human gene NUP37
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell cycle	IEA Inferred from Electronic Annotation more info
cell division	IEA Inferred from Electronic Annotation more info
chromosome segregation	IEA Inferred from Electronic Annotation more info
intracellular transport of virus	TAS Traceable Author Statement more info
mRNA export from nucleus	TAS Traceable Author Statement more info
protein sumoylation	TAS Traceable Author Statement more info
regulation of cellular response to heat	TAS Traceable Author Statement more info
regulation of gene silencing by miRNA	TAS Traceable Author Statement more info
regulation of glycolytic process	TAS Traceable Author Statement more info
tRNA export from nucleus	TAS Traceable Author Statement more info
viral process	TAS Traceable Author Statement more info
viral transcription	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
condensed chromosome kinetochore	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
host cell	IEA Inferred from Electronic Annotation more info
colocalizes_with kinetochore	IDA Inferred from Direct Assay more info	PubMed
nuclear envelope	TAS Traceable Author Statement more info
nuclear pore outer ring	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nuclear pore outer ring	IDA Inferred from Direct Assay more info	PubMed
nuclear pore outer ring	NAS Non-traceable Author Statement more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	HDA more info	PubMed

General protein information

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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)

NM_024057.4 → NP_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

Related

ENSP00000448054.1, ENST00000552283.6

Conserved Domains (2) summary

sd00039
Location:22 → 70

7WD40; WD40 repeat [structural motif]

cl25539
Location:64 → 194

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 ...