Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10189
Gene name	Aly/REF export factor
Gene symbol	ALYREF
Synonyms (NCBI Gene)	ALYALY/REFBEFREFTHOC4
Chromosome	17
Chromosome location	17q25.3
Summary	The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSe

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miRTarBase ID	miRNA	Experiments	Reference
MIRT045564	hsa-miR-149-5p	CLASH	23622248
MIRT041026	hsa-miR-505-3p	CLASH	23622248
MIRT040160	hsa-miR-615-3p	CLASH	23622248
MIRT563857	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT346145	hsa-miR-548ac	HITS-CLIP	23824327
MIRT346152	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT346138	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT346140	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT346144	hsa-miR-548z	HITS-CLIP	23824327
MIRT563857	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT563853	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT619961	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT563857	hsa-miR-605-5p	PAR-CLIP	20371350
MIRT563856	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT563855	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT563854	hsa-miR-4803	PAR-CLIP	20371350
MIRT563853	hsa-miR-4666a-5p	PAR-CLIP	20371350
MIRT513075	hsa-miR-3186-3p	PAR-CLIP	23446348
MIRT251990	hsa-miR-1266-3p	PAR-CLIP	23446348
MIRT563857	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT346145	hsa-miR-548ac	HITS-CLIP	23824327
MIRT346152	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT346138	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT346140	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT346144	hsa-miR-548z	HITS-CLIP	23824327
MIRT563857	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT563853	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT619961	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT563857	hsa-miR-605-5p	PAR-CLIP	20371350
MIRT563856	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT563855	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT563854	hsa-miR-4803	PAR-CLIP	20371350
MIRT563853	hsa-miR-4666a-5p	PAR-CLIP	20371350
MIRT513075	hsa-miR-3186-3p	PAR-CLIP	23446348
MIRT251990	hsa-miR-1266-3p	PAR-CLIP	23446348

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000346	Component	Transcription export complex	IDA	15833825, 15998806
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	11546874, 11979277, 14667819, 15047853, 17190602, 17234882, 18562279, 19165146, 19262567, 19850040, 21814512, 23299939, 29128334, 32960270, 35271311, 37020021
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28418038
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IDA	28418038
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0006405	Process	RNA export from nucleus	IDA	28418038
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006406	Process	MRNA export from nucleus	IMP	17190602, 25662211
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	16210410
GO:0016607	Component	Nuclear speck	IEA
GO:0035145	Component	Exon-exon junction complex	IDA	16314458
GO:0051028	Process	MRNA transport	IEA
GO:0062153	Function	C5-methylcytidine-containing RNA reader activity	IDA	28418038
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
604171	19071	ENSG00000183684

Q86V81

Protein name

THO complex subunit 4 (Tho4) (Ally of AML-1 and LEF-1) (Aly/REF export factor) (Transcriptional coactivator Aly/REF) (bZIP-enhancing factor BEF)

Protein function

Functions as an mRNA export adapter; component of the transcription/export (TREX) complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA

PDB

3ULH , 7ZNJ , 7ZNK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	108 → 177	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF13865	FoP_duplication	187 → 257	C-terminal duplication domain of Friend of PRMT1	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in a wide variety of cancer types. {ECO:0000269|PubMed:25662211}.

Sequence

MADKMDMSLDDIIKLNRSQRGGRGGGRGRGRAGSQGGRGGGAQAAARVNRGGGPIRNRPA
IARGAAGGGGRNRPAPYSRPKQLPDKWQHDLFDSGFGGGAGVETGGKLLVSNLDFGVSDA
DIQELFAEFGTLKKAAVHYDRSGRSLGTADVHFERKADALKAMKQYNGVPLDGRPMNIQL
VTSQIDAQRRPAQSVNRGGMTRNRGAGGFGGGGGTRRGTRGGARGRGRGAGRNSKQQLSA
EELDAQLDAYNARMDTS

Sequence length

257

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis Herpes simplex virus 1 infection		Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALYREF-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	24866055	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Associate	34856760	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Stimulate	38164181	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	28498803	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	34856760	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Non Hodgkin	Associate	33400376	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Associate	34504491	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	21329510	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	38164181	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Associate	26932277	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	36545327	★★★★★ ★☆☆☆☆ Found in Text Mining only

ALYREF (Aly/REF export factor)