HRURF

Summary

HRURF (HR upstream open reading frame, HGNC:55085) is a protein-coding gene on chromosome 8p21.3, encoding Protein HRURF (P0DUH7). May function as an inhibitory translational control element that can negatively regulate protein translation of HR gene.

Predicted to be involved in regulation of translation. Implicated in hypotrichosis 4.

Source: NCBI Gene 120766137 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypotrichosis 4 (Moderate, GenCC)
• Clinical variants (ClinVar): 8 total
• Phenotypes (HPO): 8
• MANE Select transcript: NM_001394132

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55085
Approved symbol	HRURF
Name	HR upstream open reading frame
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	U2HR
Ensembl gene	ENSG00000288677
Ensembl biotype	protein_coding
OMIM	619257
Entrez	120766137

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000518377

RefSeq mRNA: 1 — MANE Select: NM_001394132 NM_001394132

CCDS: CCDS94263

Canonical transcript exons

ENST00000518377 — 1 exons

Exon	Start	End
ENSE00003978149	22130458	22131010

Expression profiles

Top tissues by expression

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

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Protein HRURF — P0DUH7 (reviewed: P0DUH7)

Alternative names: HR upstream open reading frame protein

All UniProt accessions (2): P0DUH7, A0A7P0T8H1

UniProt curated annotations — full annotation on UniProt →

Function. May function as an inhibitory translational control element that can negatively regulate protein translation of HR gene.

Disease relevance. Hypotrichosis 4 (HYPT4) [MIM:146550] An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_001381061* (*=MANE)

Domains & families (InterPro)

UniProt features (7 total): sequence variant 6, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DUH7-F1	75.96	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 22 (showing top): GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, chr8p21, GOBP_REGULATION_OF_TRANSLATION, GOBP_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, HP_ABNORMAL_EYELASH_MORPHOLOGY, HP_ABNORMAL_EYEBROW_MORPHOLOGY, HP_SPARSE_EYELASHES, HP_ALOPECIA, HP_ABNORMAL_SCALP_MORPHOLOGY, HP_SPARSE_SCALP_HAIR, HP_SPARSE_BODY_HAIR, HP_CONGENITAL_ONSET, HP_SPARSE_HAIR, HP_ABNORMALITY_OF_HAIR_TEXTURE

GO Biological Process (1): regulation of translation (GO:0006417)

GO Molecular Function (0):

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1D8PTI7, A0A1U8QGE6, A0A5Q0QMX6, A0A6A6H2E0, A5J1W9, C5C0I7, O83202, P03850, P09003, P0DTP8, P0DTP9, P0DUH7, P19279, P22281, P24550, P27269, P37509, P39351, P43942, P43966, P44047, P50581, P55457, P55461, P61511, P61512, P64936, P68958, P68959, P76611, P83944, P85086, P9WIH6, P9WIH7, P9WLJ8, P9WLJ9, Q03286, Q04977, Q13670, Q1RA65

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

8 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3 predictions. Top by Δscore:

Variant	Effect	Δscore
8:22130871:G:A	donor_gain	0.6000
8:22130667:C:CA	acceptor_gain	0.2000
8:22131008:A:C	donor_gain	0.2000

AlphaMissense

205 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000054480 (8:22131275 C>A,G,T), RS1000104685 (8:22130966 G>A), RS1000832928 (8:22132946 T>G), RS1001058916 (8:22132323 C>A,G,T), RS1001280146 (8:22131594 C>G,T), RS1001626743 (8:22131796 C>G), RS1002334184 (8:22132378 C>T), RS1002688569 (8:22132656 C>T), RS1004211351 (8:22132178 C>G,T), RS1004327163 (8:22132400 T>TG), RS1005574644 (8:22130586 C>T), RS1006033807 (8:22130442 C>A,T), RS1007413393 (8:22130948 T>C,G), RS1007876434 (8:22130670 C>T), RS1007889779 (8:22131098 G>T)

Disease associations

OMIM: gene MIM:619257 | disease phenotypes: MIM:203655, MIM:209500

GenCC curated gene-disease

Disease	Classification	Inheritance
hypotrichosis 4	Moderate	Autosomal dominant

Mondo (3): alopecia universalis congenita (MONDO:0008757), atrichia with papular lesions (MONDO:0008847), hypotrichosis 4 (MONDO:0100522)

Orphanet (2): Alopecia universalis (Orphanet:701), Atrichia with papular lesions (Orphanet:86819)

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000653	Sparse eyelashes
HP:0001596	Alopecia
HP:0002209	Sparse scalp hair
HP:0002231	Sparse body hair
HP:0003577	Congenital onset
HP:0030056	Uncombable hair
HP:0045075	Sparse eyebrow

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C537055	Alopecia universalis (supp.)
C565924	Atrichia with Papular Lesions (supp.)
C567718	Marie Unna Hereditary Hypotrichosis 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

4 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02020161	PHASE4	UNKNOWN	Clinical Guidelines for APL Treatment
NCT07296445	PHASE3	NOT_YET_RECRUITING	A Trial to Investigate Whether Oral Arsenic Trioxide Is Similar to Intravenous Arsenic Trioxide in Pharmacokinetics, Safety, and Efficacy (LATITUDE/SDKARS-301)
NCT07503730	PHASE3	RECRUITING	Early Use of Realgar-Indigo Naturalis Formula (RIF) Combined With All-trans Retinoic Acid (ATRA) for Treating Acute Promyelocytic Leukemia (APL).
NCT05881265	PHASE2	RECRUITING	Treatment of Chidamide and Venetoclax for Retinoic Acid and Arsenic Resistant Acute Promyelocytic Leukemia