Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55027
Gene name Gene Name - the full gene name approved by the HGNC.
HEAT repeat containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HEATR3
Synonyms (NCBI Gene) Gene synonyms aliases
DBA21, SYO1, hsSyo1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DBA21
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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]
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0006606 Process Protein import into nucleus IBA 21873635
GO:0042273 Process Ribosomal large subunit biogenesis IBA 21873635
GO:0051082 Function Unfolded protein binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614951 26087 ENSG00000155393
Protein
UniProt ID 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
GLARLVQQRPALPGLARRDAVRRLGPLLLDPSLAVRETAAGALRNL
SACGGFEVCDDMVT
KDIMTPLVALLKECSAGLDSNEMSLQEKKDQNRNSIENIANETVNVLWNICECSSRAVSI
FNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDNPELLKSFSATALNMLESALLSP
VSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINALLKILSEVLGMDAGEMVIQMKEAET
QRLKTAAEAEEILENTNGDDLIEDDEMEGISHKRRVRRKTFVSDLLPPTDKELRETIALL
TAQQTALEIIVNMCCNEDPSDDEWEELSSSDESDAFMENSFSECGGQLFSPLCLSHEVHT
ALTNYLIPKKIFEKTAFPNSIAVDLCSRNPTWKPLIRKMNTIQCRALFCLQSLVSLLDVE
HLGGAAALQTLAQHLSQLLFSQPDFAKHVDFLEAISSALRALLQTMASKNISQCMTPDQL
MTLCKAGIHSSNVGVRVNVVSILGITGSVLAKEDGTLETLKNIGCFLLEVTTKDPSLVVA
GEALDALFDVFADGKEAERASIQIKLLSALKEFQPVFKMKIRKEGRGNYSTDQLCVLDNV
KMNLRRFIAYQETVEKRLTS
Sequence length 680
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 22960999
Esophagus neoplasm Esophageal Neoplasms rs28934578, rs121918714, rs1567556006, rs1575166666 22960999
Glioblastoma Glioblastoma, Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888 28346443
Glioma Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
28346443
Unknown
Disease term Disease name Evidence References Source
Anemia Diamond-Blackfan anemia 21 GenCC
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Uterine Fibroids Uterine Fibroids GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acromelic frontonasal dysplasia Associate 35213692
Anemia Diamond Blackfan Associate 35213692
Bone Marrow Failure Disorders Associate 35213692
Crohn Disease Associate 23615072
Glioblastoma Associate 37085538
Glioma Associate 37085538
Growth Disorders Associate 35213692
Intellectual Disability Associate 35213692