NENF neudesin neurotrophic factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: NENFprovided by HGNC
Official Full Name: neudesin neurotrophic factorprovided by HGNC
Primary source: HGNC:HGNC:30384
See related: Ensembl:ENSG00000117691 MIM:611874; AllianceGenome:HGNC:30384
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: CIR2; SPUF; SCIRP10
Summary: This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in ovary (RPKM 25.5), prostate (RPKM 23.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (212432920..212446379)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (211677617..211691093)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (212606262..212619721)

Chromosome 1 - NC_000001.11 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?

The level of the neudesin in type-2 diabetic patients and the relationship between the metabolic parameters and carotid intima-media thickness.
Title: The level of the neudesin in type-2 diabetic patients and the relationship between the metabolic parameters and carotid intima-media thickness.
Neudesin: a neuropeptide hormone decreased in subjects with polycystic ovary syndrome.
Title: Neudesin: a neuropeptide hormone decreased in subjects with polycystic ovary syndrome.
In astrocytic brain tumor patients neudesin concentrations within the cerebrospinal fluid are higher compared with non-tumoral individuals. Serum neudesin concentration strongly correlates with its CSF level. In primary brain tumor patients serum neudesin concentration is clearly gender-dependent.
Title: Serum and cerebrospinal fluid Neudesin concentration and Neudesin Quotient as potential circulating biomarkers of a primary brain tumor.
High NENF expression is associated with liver cancer.
Title: Genome-wide study of hypomethylated and induced genes in patients with liver cancer unravels novel anticancer targets.
Describes the predicted heme-binding domains in the human neudesin protein sequence.
Title: Neurotrophic activity of neudesin, a novel extracellular heme-binding protein, is dependent on the binding of heme to its cytochrome b5-like heme/steroid-binding domain.
Human neudesin of 172 amino acids with high similarity ( approximately 91% identity) to mouse neudesin was identified; the human neudesin gene was mapped to chromosome 1p33.
Title: Neudesin, a novel secreted protein with a unique primary structure and neurotrophic activity.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76309 (e-PCR)
- UniSTS:82947

G54024 (e-PCR)
- UniSTS:109406

SHGC-1592 (e-PCR)
- UniSTS:20588

SHGC-150586 (e-PCR)
- UniSTS:173487

D1S505 (e-PCR), detects polymorphism
- UniSTS:51398

STS-H56163 (e-PCR)
- UniSTS:31472

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of appetite	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neudesin

Names: SCIRP10-related protein; Spinal cord injury related protein 10; cell growth-inhibiting protein 47; cell immortalization-related protein 2; neuron-derived neurotrophic factor; secreted protein of unknown function

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_013349.5 → NP_037481.1 neudesin precursor

See identical proteins and their annotated locations for NP_037481.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AF173937, BC008823, DB574171

Consensus CDS

CCDS1505.1

UniProtKB/Swiss-Prot

A1KYQ8, Q53FZ6, Q5TM90, Q9UMX5

Related

ENSP00000355955.3, ENST00000366988.5

Conserved Domains (1) summary

pfam00173
Location:48 → 109

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

RNA

NR_026598.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC008823, DB502983, DB574171

Related

ENST00000479589.5