POLR1D - RNA polymerase I and III subunit D Gene

Also Known as AC19; RPA9; TCS2; RPA16; RPAC2; RPC16; POLR1C; RPO1-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51082

About POLR1D

Cytogenetic location: 13q12.2 Genomic coordinates (GRCh38): 13:27,620,743-27,667,411 (from NCBI)

This gene has 25 transcripts (splice variants), 186 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 19.3), adrenal (RPKM 13.6) and 25 other tissues.

Summary

The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

POLR1D Products (4)

mRNA	Protein	Name
NM_001206559.2	NP_001193488.1	DNA-directed RNA polymerases I and III subunit RPAC2 isoform 3
NM_001374407.1	NP_001361336.1	DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1
NM_015972.4	NP_057056.1	DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1
NM_152705.3	NP_689918.1	Protein POLR1D isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of RNA polymerase I complex	IDA IDA: Inferred from direct assay	34671025	GOA
part of RNA polymerase III complex	IDA IDA: Inferred from direct assay	33335104	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLR1D Protein Structure

RNA_pol_L_2

0
100
133 a.a.

Protein Preferred Names	Protein Names
DNA-directed RNA polymerases I and III subunit RPAC2 Protein POLR1D	DNA-directed RNA polymerase I subunit D

Protein Preferred Names

Protein Names

DNA-directed RNA polymerases I and III subunit RPAC2

Protein POLR1D

DNA-directed RNA polymerase I subunit D

POLR1D Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POLR1D	P0DPB6	POLR1C	Homo sapiens	O15160	Y2H Array	25416956
Intra	POLR1D	P0DPB6	POLR1C	Homo sapiens	O15160	Y2H Prey Pooling	25416956
Intra	POLR1D	P0DPB6	POLR1C	Homo sapiens	O15160	Validated Y2H	25416956
Intra	POLR1D	P0DPB6	POLR1C	Homo sapiens	O15160	Anti Tag CoIP	35271311
Intra	POLR1D	P0DPB6	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
Intra	POLR1D	P0DPB6	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
Intra	POLR1D	P0DPB6	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
Intra	POLR1D	P0DPB6	q9y649_human	Homo sapiens	Q9Y649	Validated Y2H	32814053
Intra	POLR1D	P0DPB6	q9y649_human	Homo sapiens	Q9Y649	Y2H Array	32814053
Intra	POLR1D	P0DPB6	q9y649_human	Homo sapiens	Q9Y649	Y2H Pooling	32814053
Intra	POLR1D	P0DPB6	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	POLR1D	P0DPB6	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	POLR1D	P0DPB6	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	POLR1D	P0DPB6	CASP6	Homo sapiens	P55212	Validated Y2H	32814053
Intra	POLR1D	P0DPB6	CASP6	Homo sapiens	P55212	Y2H Pooling	32814053
Intra	POLR1D	P0DPB6	CASP6	Homo sapiens	P55212	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Treacher Collins Syndrome 2	TCS2
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Bicipital Tenosynovitis
Acrofacial Dysostosis, Cincinnati Type	Acrofacial Dysostosis Cincinnati Type AFDCIN Dysostosis, Acrofacial, Cincinnati Type
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Cerebrooculofacioskeletal Syndrome 2	COFS2 Cerebro-Oculo-Facio-Skeletal Syndrome 2 Cofs Syndrome
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	HH5 Kallmann Syndrome 5 Kal5 Hypogonadotropic Hypogonadism 5 Without Anosmia Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Craniofacial Microsomia	Goldenhar Syndrome Hemifacial Microsomia Oculoauriculovertebral Spectrum Oavs Oculo-Auriculo-Vertebral Spectrum CFM Oav Dysplasia Facioauriculovertebral Sequence Fav Sequence First And Second Branchial Arch Syndrome Otomandibular Dysostosis Hfm Oculoauriculovertebral Dysplasia Facio-Auriculo-Vertebral Spectrum Facioauriculovertebral Dysplasia Oculo-Auriculo-Vertebral Dysplasia First Arch Syndrome Oav Dysplasia Goldenhar Disease Expanded Spectrum Hemifacial Microsomia Expanded Spectrum Of Hemifacial Microsomia Oculoauriculovertebral Syndrome Oavd Asymmetric Hypoplasia Of Facial Structures Auriculobranchiogenic Dysplasia Fav First And Second Pharyngeal Arch Syndromes Goldenhar-Gorlin Syndrome Lateral Facial Dysplasia Oav Complex Oral-Mandibular-Auricular Syndrome Unilateral Intrauterine Facial Necrosis Unilateral Mandibulofacial Dysostosis Oav Spectrum Oculoauricular Vertebral Dysplasia Microsomia, Hemifacial Goldenhar Syndrome With Ipsilateral Radial Defect
Acrofacial Dysostosis
Treacher Collins Syndrome 3	TCS3 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive
Bowen-Conradi Syndrome	BWCNS Bowen Hutterite Syndrome Bowen-Conradi Hutterite Syndrome Bowen Syndrome, Hutterite Type Bowen Hutterite Syndrome, Formerly Hutterite Syndrome Bowen Syndrome Hutterite Type Fetal Growth Retardation
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Dystonia 11, Myoclonic	Myoclonic Dystonia Myoclonus-Dystonia Syndrome DYT11 Myoclonic Dystonia 11 Alcohol-Responsive Dystonia Myoclonus, Hereditary Essential Dystonia-11, Myoclonic Myoclonus-Dystonia Dystonia 11 Hereditary Essential Myoclonus Dystonia, Alcohol-Responsive Dyt-Sgce Dystonia, Alcohol Responsive Dystonia-11 Dystonia, Myoclonic Dystonia, Myoclonic, Type 11
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Orofacial Cleft	Cleft, Orofacial
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10840	POLR1D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	POLR1D	MGD	MGI:108403
Canis familiaris	POLR1D	VGNC	VGNC:59102
Rattus norvegicus	POLR1D	RGD	RGD:1564358
Others	POLR1D	NCBI