NXF5

Summary

NXF5 (nuclear RNA export factor 5, HGNC:8075) is a unprocessed pseudogene on chromosome Xq22.1. Could be involved in the export of mRNA from the nucleus to the cytoplasm.

This gene is one member of a family of nuclear RNA export factor genes. Most transcript variants are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo.

Source: NCBI Gene 55998 — RefSeq curated summary.

At a glance

• Gene type: non-coding (transcribed_unprocessed_pseudogene) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8075
Approved symbol	NXF5
Name	nuclear RNA export factor 5
Location	Xq22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000126952
Ensembl biotype	transcribed_unprocessed_pseudogene
OMIM	300319
Entrez	55998

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 transcribed_unprocessed_pseudogene

ENST00000537026

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000537026 — 17 exons

Exon	Start	End
ENSE00001758081	101832537	101832597
ENSE00002087859	101843122	101843278
ENSE00003470937	101838790	101838826
ENSE00003474470	101836020	101836201
ENSE00003496991	101836734	101836806
ENSE00003503579	101837492	101837654
ENSE00003510670	101840499	101840608
ENSE00003551194	101838342	101838410
ENSE00003578682	101838200	101838255
ENSE00003619556	101837782	101837840
ENSE00003890143	101841261	101841330
ENSE00003892355	101842742	101842895
ENSE00003893221	101841674	101841778
ENSE00003894009	101841016	101841104
ENSE00003895255	101840788	101840895
ENSE00003895263	101841890	101841973
ENSE00003896088	101841478	101841558

Expression profiles

Bgee: expression breadth broad, 63 present calls, max score 72.87.

Top tissues by expression

190 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.87	silver quality
sperm	CL:0000019	72.33	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	61.24	gold quality
myocardium	UBERON:0002349	60.90	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	60.56	gold quality
tendon of biceps brachii	UBERON:0008188	57.97	gold quality
gingival epithelium	UBERON:0001949	57.90	gold quality
superficial temporal artery	UBERON:0001614	57.73	gold quality
gingiva	UBERON:0001828	56.82	gold quality
cartilage tissue	UBERON:0002418	56.31	gold quality
oviduct epithelium	UBERON:0004804	54.29	gold quality
nasal cavity epithelium	UBERON:0005384	53.88	gold quality
mucosa of sigmoid colon	UBERON:0004993	53.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	51.52	gold quality
cerebellar cortex	UBERON:0002129	50.79	gold quality
cerebellar hemisphere	UBERON:0002245	50.78	gold quality
colonic mucosa	UBERON:0000317	50.47	gold quality
cerebellum	UBERON:0002037	50.12	gold quality
metanephros cortex	UBERON:0010533	50.03	gold quality
vastus lateralis	UBERON:0001379	49.41	gold quality
quadriceps femoris	UBERON:0001377	49.20	gold quality
buccal mucosa cell	CL:0002336	48.42	gold quality
right adrenal gland cortex	UBERON:0035827	48.10	gold quality
right lobe of liver	UBERON:0001114	47.96	silver quality
biceps brachii	UBERON:0001507	47.93	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	47.11	gold quality
metanephros	UBERON:0000081	47.10	gold quality
Brodmann (1909) area 46	UBERON:0006483	46.92	gold quality
spinal cord	UBERON:0002240	46.45	gold quality
amniotic fluid	UBERON:0000173	45.72	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.46

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 2)

• Mutations of the NXF5 gene is associated with X-linked mental retardation (PMID:12784308)
• study of an Australian pedigree in which focal segmental glomerulosclerosis co-segregates with progressive heart block; study found 2 mutations NXF5-R113W and ALG13-T141L segregated with disease phenotype; predicted the NXF5 R113W mutation to be deleterious; cellular studies support a role in the stability and localization of the protein suggesting a causative role (PMID:23686279)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.