NGDN neuroguidin [Homo sapiens (human)] - Gene

Summary

Official Symbol: NGDNprovided by HGNC
Official Full Name: neuroguidinprovided by HGNC
Primary source: HGNC:HGNC:20271
See related: Ensembl:ENSG00000129460 MIM:610777; AllianceGenome:HGNC:20271
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NGD; LCP5; CANu1; lpd-2; C14orf120
Summary: Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 17.4), ovary (RPKM 12.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23469703..23478826)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17670297..17679414)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23938912..23948035)

Chromosome 14 - NC_000014.9 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?

the results of this study in vitro confirmed that NGDN over-expression can increase the sensitivity of human myeloid multidrug-resistant leukemia cells to chemotherapeutic drugs
Title: High expression of neuroguidin increases the sensitivity of acute myeloid leukemia cells to chemotherapeutic drugs.
poly(A) polymerase Gld2, deadenylase PARN, and translation inhibitory factor neuroguidin (Ngd) are components of a dendritic CPEB-associated polyadenylation apparatus
Title: Bidirectional control of mRNA translation and synaptic plasticity by the cytoplasmic polyadenylation complex.
Study isolated a novel human gene, to be called as CANu1, by the large-scale genome-wide association analysis to screen specific Single nucleotide polymorphisms in colon cancer.
Title: CANu1, a novel nucleolar protein, accumulated on centromere in response to DNA damage.

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

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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Markers

D14S1349 (e-PCR)
- UniSTS:56084

SHGC-62927 (e-PCR)
- UniSTS:95351

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of translation at postsynapse	IEA Inferred from Electronic Annotation more info
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perforant pathway to dendrate granule cell synapse	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neuroguidin

Names: EIF4E-binding protein; centromere accumulated nuclear protein 1; eukaryotic initiation factor 4E and CPEB binding protein; neuroguidin, EIF4E binding 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_001042635.2 → NP_001036100.1 neuroguidin isoform 1

See identical proteins and their annotated locations for NP_001036100.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL132855, BC030817

Consensus CDS

CCDS41926.1

UniProtKB/Swiss-Prot

A8K760, Q8NEJ9, Q9Y400

UniProtKB/TrEMBL

H0YJQ1

Related

ENSP00000386134.3, ENST00000408901.8

Conserved Domains (1) summary

pfam04000
Location:18 → 97

Sas10_Utp3; Sas10/Utp3/C1D family
NM_015514.2 → NP_056329.1 neuroguidin isoform 2

See identical proteins and their annotated locations for NP_056329.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) retains an intron, differing in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL132855

Consensus CDS

CCDS32051.1

UniProtKB/TrEMBL

H0YJQ1

Related

ENSP00000380340.3, ENST00000397154.7

Conserved Domains (1) summary

pfam04000
Location:18 → 97

Sas10_Utp3; Sas10/Utp3/C1D family