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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55027
Gene name	HEAT repeat containing 3
Gene symbol	HEATR3
Synonyms (NCBI Gene)	DBA21SYO1hsSyo1
Chromosome	16
Chromosome location	16q12.1
Summary	The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]

115

Show/Hide all (115)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051302	hsa-miR-16-5p	CLASH	23622248
MIRT041524	hsa-miR-193b-3p	CLASH	23622248
MIRT459848	hsa-miR-3614-5p	PAR-CLIP	23592263
MIRT459847	hsa-miR-6500-3p	PAR-CLIP	23592263
MIRT459846	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT459845	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459844	hsa-miR-769-5p	PAR-CLIP	23592263
MIRT459843	hsa-miR-3672	PAR-CLIP	23592263
MIRT459842	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT459848	hsa-miR-3614-5p	PAR-CLIP	23592263
MIRT459847	hsa-miR-6500-3p	PAR-CLIP	23592263
MIRT459846	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT459845	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459844	hsa-miR-769-5p	PAR-CLIP	23592263
MIRT459843	hsa-miR-3672	PAR-CLIP	23592263
MIRT459842	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT1043179	hsa-miR-1227	CLIP-seq
MIRT1043180	hsa-miR-1245	CLIP-seq
MIRT1043181	hsa-miR-1275	CLIP-seq
MIRT1043182	hsa-miR-150	CLIP-seq
MIRT1043183	hsa-miR-181a	CLIP-seq
MIRT1043184	hsa-miR-181b	CLIP-seq
MIRT1043185	hsa-miR-181c	CLIP-seq
MIRT1043186	hsa-miR-181d	CLIP-seq
MIRT1043187	hsa-miR-18a	CLIP-seq
MIRT1043188	hsa-miR-18b	CLIP-seq
MIRT1043189	hsa-miR-4260	CLIP-seq
MIRT1043190	hsa-miR-4262	CLIP-seq
MIRT1043191	hsa-miR-4271	CLIP-seq
MIRT1043192	hsa-miR-4511	CLIP-seq
MIRT1043193	hsa-miR-4525	CLIP-seq
MIRT1043194	hsa-miR-455-5p	CLIP-seq
MIRT1043195	hsa-miR-4665-5p	CLIP-seq
MIRT1043196	hsa-miR-4713-5p	CLIP-seq
MIRT1043197	hsa-miR-4715-3p	CLIP-seq
MIRT1043198	hsa-miR-4723-5p	CLIP-seq
MIRT1043199	hsa-miR-4725-3p	CLIP-seq
MIRT1043200	hsa-miR-4735-3p	CLIP-seq
MIRT1043201	hsa-miR-4761-5p	CLIP-seq
MIRT1043202	hsa-miR-491-3p	CLIP-seq
MIRT1043203	hsa-miR-513a-5p	CLIP-seq
MIRT1043204	hsa-miR-532-3p	CLIP-seq
MIRT1043205	hsa-miR-582-3p	CLIP-seq
MIRT1043206	hsa-miR-586	CLIP-seq
MIRT1043207	hsa-miR-625	CLIP-seq
MIRT1043208	hsa-miR-640	CLIP-seq
MIRT1043182	hsa-miR-150	CLIP-seq
MIRT1043187	hsa-miR-18a	CLIP-seq
MIRT1043188	hsa-miR-18b	CLIP-seq
MIRT1549473	hsa-miR-197	CLIP-seq
MIRT1043196	hsa-miR-4713-5p	CLIP-seq
MIRT1043200	hsa-miR-4735-3p	CLIP-seq
MIRT1043201	hsa-miR-4761-5p	CLIP-seq
MIRT1043202	hsa-miR-491-3p	CLIP-seq
MIRT1549474	hsa-miR-5096	CLIP-seq
MIRT1043204	hsa-miR-532-3p	CLIP-seq
MIRT1043206	hsa-miR-586	CLIP-seq
MIRT2009224	hsa-miR-1182	CLIP-seq
MIRT2009225	hsa-miR-122	CLIP-seq
MIRT1043182	hsa-miR-150	CLIP-seq
MIRT1043187	hsa-miR-18a	CLIP-seq
MIRT1043188	hsa-miR-18b	CLIP-seq
MIRT2009226	hsa-miR-3135b	CLIP-seq
MIRT2009227	hsa-miR-3652	CLIP-seq
MIRT2009228	hsa-miR-4287	CLIP-seq
MIRT2009229	hsa-miR-4430	CLIP-seq
MIRT2009230	hsa-miR-4469	CLIP-seq
MIRT2009231	hsa-miR-450b-3p	CLIP-seq
MIRT2009232	hsa-miR-4685-3p	CLIP-seq
MIRT2009233	hsa-miR-4695-3p	CLIP-seq
MIRT2009234	hsa-miR-4713-3p	CLIP-seq
MIRT1043196	hsa-miR-4713-5p	CLIP-seq
MIRT2009235	hsa-miR-4731-5p	CLIP-seq
MIRT1043200	hsa-miR-4735-3p	CLIP-seq
MIRT2009236	hsa-miR-4740-3p	CLIP-seq
MIRT1043201	hsa-miR-4761-5p	CLIP-seq
MIRT1043203	hsa-miR-513a-5p	CLIP-seq
MIRT1043204	hsa-miR-532-3p	CLIP-seq
MIRT2009237	hsa-miR-638	CLIP-seq
MIRT2009238	hsa-miR-642a	CLIP-seq
MIRT2009239	hsa-miR-769-3p	CLIP-seq
MIRT2009225	hsa-miR-122	CLIP-seq
MIRT2241611	hsa-miR-1254	CLIP-seq
MIRT2241612	hsa-miR-3116	CLIP-seq
MIRT2009226	hsa-miR-3135b	CLIP-seq
MIRT2241613	hsa-miR-3186-5p	CLIP-seq
MIRT2009227	hsa-miR-3652	CLIP-seq
MIRT2009229	hsa-miR-4430	CLIP-seq
MIRT2241614	hsa-miR-4435	CLIP-seq
MIRT2009233	hsa-miR-4695-3p	CLIP-seq
MIRT2241615	hsa-miR-4772-3p	CLIP-seq
MIRT2241616	hsa-miR-661	CLIP-seq
MIRT2009224	hsa-miR-1182	CLIP-seq
MIRT2009227	hsa-miR-3652	CLIP-seq
MIRT2009228	hsa-miR-4287	CLIP-seq
MIRT2009229	hsa-miR-4430	CLIP-seq
MIRT2009230	hsa-miR-4469	CLIP-seq
MIRT2009232	hsa-miR-4685-3p	CLIP-seq
MIRT2009238	hsa-miR-642a	CLIP-seq
MIRT2009225	hsa-miR-122	CLIP-seq
MIRT1043179	hsa-miR-1227	CLIP-seq
MIRT2009226	hsa-miR-3135b	CLIP-seq
MIRT2009227	hsa-miR-3652	CLIP-seq
MIRT2009229	hsa-miR-4430	CLIP-seq
MIRT2009231	hsa-miR-450b-3p	CLIP-seq
MIRT1043194	hsa-miR-455-5p	CLIP-seq
MIRT2009233	hsa-miR-4695-3p	CLIP-seq
MIRT2009234	hsa-miR-4713-3p	CLIP-seq
MIRT1043197	hsa-miR-4715-3p	CLIP-seq
MIRT1043203	hsa-miR-513a-5p	CLIP-seq
MIRT2009237	hsa-miR-638	CLIP-seq
MIRT2009239	hsa-miR-769-3p	CLIP-seq
MIRT2682244	hsa-miR-4279	CLIP-seq
MIRT2009230	hsa-miR-4469	CLIP-seq
MIRT2009236	hsa-miR-4740-3p	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IMP	35213692
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042273	Process	Ribosomal large subunit biogenesis	IBA
GO:0042273	Process	Ribosomal large subunit biogenesis	IMP	35213692
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0043249	Process	Erythrocyte maturation	IMP	35213692
GO:0051082	Function	Unfolded protein binding	IBA

MIM	HGNC	e!Ensembl
614951	26087	ENSG00000155393

Q7Z4Q2

Protein name

HEAT repeat-containing protein 3 (Symportin Syo1) (hsSyo1)

Protein function

Plays a role in ribosome biogenesis and in nuclear import of the 60S ribosomal protein L5/large ribosomal subunit protein uL18 (RPL5) (PubMed:35213692). Required for proper erythrocyte maturation (PubMed:35213692).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13513	HEAT_EZ	41 → 106		Repeat

Sequence

MGKSRTKRFKRPQFSPTGDCQAEAAAAANGTGGEEDDGPAAELLEKLQHPSAEVRECACA
GLARLVQQRPALPGLARRDAVRRLGPLLLDPSLAVRETAAGALRNLSACGGFEVCDDMVT
KDIMTPLVALLKECSAGLDSNEMSLQEKKDQNRNSIENIANETVNVLWNICECSSRAVSI
FNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDNPELLKSFSATALNMLESALLSP
VSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINALLKILSEVLGMDAGEMVIQMKEAET
QRLKTAAEAEEILENTNGDDLIEDDEMEGISHKRRVRRKTFVSDLLPPTDKELRETIALL
TAQQTALEIIVNMCCNEDPSDDEWEELSSSDESDAFMENSFSECGGQLFSPLCLSHEVHT
ALTNYLIPKKIFEKTAFPNSIAVDLCSRNPTWKPLIRKMNTIQCRALFCLQSLVSLLDVE
HLGGAAALQTLAQHLSQLLFSQPDFAKHVDFLEAISSALRALLQTMASKNISQCMTPDQL
MTLCKAGIHSSNVGVRVNVVSILGITGSVLAKEDGTLETLKNIGCFLLEVTTKDPSLVVA
GEALDALFDVFADGKEAERASIQIKLLSALKEFQPVFKMKIRKEGRGNYSTDQLCVLDNV
KMNLRRFIAYQETVEKRLTS

Sequence length

680

Interactions

View interactions

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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diamond-Blackfan anemia	Likely pathogenic; Pathogenic	rs917466219, rs2150610519	RCV001774816 RCV002225143	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia 1	Pathogenic	rs1184398890, rs2150594383, rs2150600578	RCV002221164 RCV001809317 RCV001809318	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia 21	Pathogenic; Likely pathogenic	rs1184398890, rs917466219, rs2150610519, rs2150594383, rs2150600578	RCV002291225 RCV002291226 RCV002291227 RCV002291228 RCV002291229	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERTEBRAL COLUMN DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	30416685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	35213692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	28346443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23615072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23615072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASCAT_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	30416685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	27909727, 28045549, 31808966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	GWASCAT_DG	28346443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37085538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	GWASCAT_DG	28346443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASCAT_DG	28346443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	37085538	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	35213692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	27909727, 28045549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35213692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	28045549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	28045549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23580575, 31808966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28668282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	22960999		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	27909727, 28045549		★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	28045549, 30416685, 30431073, 31808966		★★★★★ ★☆☆☆☆ Found in Text Mining only

HEATR3 (HEAT repeat containing 3)