Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55027 |
Gene nameGene Name - the full gene name approved by the HGNC.
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HEAT repeat containing 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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HEATR3 |
SynonymsGene synonyms aliases
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DBA21, SYO1, hsSyo1 |
ChromosomeChromosome number
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16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16q12.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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] |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Repeat |
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Sequence |
MGKSRTKRFKRPQFSPTGDCQAEAAAAANGTGGEEDDGPAAELLEKLQHPSAEVRECACA GLARLVQQRPALPGLARRDAVRRLGPLLLDPSLAVRETAAGALRNLSACGGFEVCDDMVT KDIMTPLVALLKECSAGLDSNEMSLQEKKDQNRNSIENIANETVNVLWNICECSSRAVSI FNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDNPELLKSFSATALNMLESALLSP VSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINALLKILSEVLGMDAGEMVIQMKEAET QRLKTAAEAEEILENTNGDDLIEDDEMEGISHKRRVRRKTFVSDLLPPTDKELRETIALL TAQQTALEIIVNMCCNEDPSDDEWEELSSSDESDAFMENSFSECGGQLFSPLCLSHEVHT ALTNYLIPKKIFEKTAFPNSIAVDLCSRNPTWKPLIRKMNTIQCRALFCLQSLVSLLDVE HLGGAAALQTLAQHLSQLLFSQPDFAKHVDFLEAISSALRALLQTMASKNISQCMTPDQL MTLCKAGIHSSNVGVRVNVVSILGITGSVLAKEDGTLETLKNIGCFLLEVTTKDPSLVVA GEALDALFDVFADGKEAERASIQIKLLSALKEFQPVFKMKIRKEGRGNYSTDQLCVLDNV KMNLRRFIAYQETVEKRLTS
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Sequence length |
680 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
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, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701 |
28346443 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Central nervous system neoplasms |
Central Nervous System Neoplasms |
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28346443 |
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