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O14802

- RPC1_HUMAN

UniProt

O14802 - RPC1_HUMAN

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Protein
DNA-directed RNA polymerase III subunit RPC1
Gene
POLR3A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition By similarity. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway.2 Publications

Catalytic activityi

Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi69 – 691Zinc 1 By similarity
Metal bindingi72 – 721Zinc 1 By similarity
Metal bindingi79 – 791Zinc 1 By similarity
Metal bindingi82 – 821Zinc 1 By similarity
Metal bindingi109 – 1091Zinc 2 By similarity
Metal bindingi112 – 1121Zinc 2 By similarity
Metal bindingi156 – 1561Zinc 2 By similarity
Metal bindingi499 – 4991Magnesium; catalytic By similarity
Metal bindingi501 – 5011Magnesium; catalytic By similarity
Metal bindingi503 – 5031Magnesium; catalytic By similarity

GO - Molecular functioni

  1. DNA binding Source: InterPro
  2. DNA-directed RNA polymerase activity Source: UniProtKB
  3. chromatin binding Source: Ensembl
  4. ribonucleoside binding Source: InterPro
  5. zinc ion binding Source: InterPro

GO - Biological processi

  1. defense response to virus Source: UniProtKB-KW
  2. gene expression Source: Reactome
  3. innate immune response Source: UniProtKB
  4. positive regulation of interferon-beta production Source: UniProtKB
  5. positive regulation of type I interferon production Source: Reactome
  6. termination of RNA polymerase III transcription Source: Reactome
  7. transcription elongation from RNA polymerase III promoter Source: Reactome
  8. transcription from RNA polymerase III promoter Source: Reactome
  9. transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Keywords - Biological processi

Antiviral defense, Immunity, Innate immunity, Transcription

Keywords - Ligandi

Magnesium, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_1036. RNA Polymerase III Transcription Initiation From Type 2 Promoter.
REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
REACT_347. RNA Polymerase III Transcription Initiation From Type 1 Promoter.
REACT_571. RNA Polymerase III Transcription Initiation From Type 3 Promoter.
REACT_63. RNA Polymerase III Transcription Termination.
REACT_756. RNA Polymerase III Chain Elongation.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-directed RNA polymerase III subunit RPC1 (EC:2.7.7.6)
Short name:
RNA polymerase III subunit C1
Alternative name(s):
DNA-directed RNA polymerase III largest subunit
DNA-directed RNA polymerase III subunit A
RNA polymerase III 155 kDa subunit
Short name:
RPC155
RNA polymerase III subunit C160
Gene namesi
Name:POLR3A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:30074. POLR3A.

Subcellular locationi

GO - Cellular componenti

  1. DNA-directed RNA polymerase III complex Source: MGI
  2. cytosol Source: Reactome
  3. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

DNA-directed RNA polymerase, Nucleus

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]: An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti372 – 3721D → N in HLD7. 1 Publication
VAR_066516
Natural varianti558 – 5581F → L in HLD7. 1 Publication
VAR_066517
Natural varianti636 – 6361S → Y in HLD7. 1 Publication
VAR_066518
Natural varianti672 – 6721G → E in HLD7. 1 Publication
VAR_066519
Natural varianti724 – 7241C → Y in HLD7. 1 Publication
VAR_066520
Natural varianti775 – 7751N → I in HLD7. 1 Publication
VAR_066521
Natural varianti852 – 8521M → V in HLD7. 1 Publication
VAR_066522
Natural varianti897 – 8971I → N in HLD7. 1 Publication
VAR_067004
Natural varianti1005 – 10051R → C in HLD7. 1 Publication
VAR_066523
Natural varianti1247 – 12471T → TT in HLD7. 1 Publication
VAR_066524

Keywords - Diseasei

Leukodystrophy

Organism-specific databases

MIMi607694. phenotype.
Orphaneti88637. Hypomyelination - hypogonadotropic hypogonadism - hypodontia.
77295. Odontoleukodystrophy.
PharmGKBiPA134900426.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13901390DNA-directed RNA polymerase III subunit RPC1
PRO_0000073947Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei445 – 4451N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO14802.
PaxDbiO14802.
PRIDEiO14802.

PTM databases

PhosphoSiteiO14802.

Expressioni

Tissue specificityi

Expressed in the brain, in the cortex and the white matter (at protein level).1 Publication

Gene expression databases

ArrayExpressiO14802.
BgeeiO14802.
CleanExiHS_POLR3A.
GenevestigatoriO14802.

Organism-specific databases

HPAiHPA037926.
HPA037927.

Interactioni

Subunit structurei

Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits By similarity.1 Publication

Protein-protein interaction databases

BioGridi116301. 26 interactions.
IntActiO14802. 3 interactions.
STRINGi9606.ENSP00000361446.

Structurei

3D structure databases

ProteinModelPortaliO14802.
SMRiO14802. Positions 13-1363.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni844 – 85613Bridging helix By similarity
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0086.
HOGENOMiHOG000222974.
HOVERGENiHBG004339.
InParanoidiO14802.
KOiK03018.
OMAiHKADRDP.
OrthoDBiEOG761BSV.
PhylomeDBiO14802.
TreeFamiTF103054.

Family and domain databases

InterProiIPR000722. RNA_pol_asu.
IPR006592. RNA_pol_N.
IPR007080. RNA_pol_Rpb1_1.
IPR007066. RNA_pol_Rpb1_3.
IPR007083. RNA_pol_Rpb1_4.
IPR007081. RNA_pol_Rpb1_5.
IPR015700. RPC1.
[Graphical view]
PANTHERiPTHR19376:SF31. PTHR19376:SF31. 1 hit.
PfamiPF04997. RNA_pol_Rpb1_1. 1 hit.
PF00623. RNA_pol_Rpb1_2. 1 hit.
PF04983. RNA_pol_Rpb1_3. 1 hit.
PF05000. RNA_pol_Rpb1_4. 1 hit.
PF04998. RNA_pol_Rpb1_5. 1 hit.
[Graphical view]
SMARTiSM00663. RPOLA_N. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O14802-1 [UniParc]FASTAAdd to Basket

« Hide

MVKEQFRETD VAKKISHICF GMKSPEEMRQ QAHIQVVSKN LYSQDNQHAP     50
LLYGVLDHRM GTSEKDRPCE TCGKNLADCL GHYGYIDLEL PCFHVGYFRA 100
VIGILQMICK TCCHIMLSQE EKKQFLDYLK RPGLTYLQKR GLKKKISDKC 150
RKKNICHHCG AFNGTVKKCG LLKIIHEKYK TNKKVVDPIV SNFLQSFETA 200
IEHNKEVEPL LGRAQENLNP LVVLNLFKRI PAEDVPLLLM NPEAGKPSDL 250
ILTRLLVPPL CIRPSVVSDL KSGTNEDDLT MKLTEIIFLN DVIKKHRISG 300
AKTQMIMEDW DFLQLQCALY INSELSGIPL NMAPKKWTRG FVQRLKGKQG 350
RFRGNLSGKR VDFSGRTVIS PDPNLRIDEV AVPVHVAKIL TFPEKVNKAN 400
INFLRKLVQN GPEVHPGANF IQQRHTQMKR FLKYGNREKM AQELKYGDIV 450
ERHLIDGDVV LFNRQPSLHK LSIMAHLARV KPHRTFRFNE CVCTPYNADF 500
DGDEMNLHLP QTEEAKAEAL VLMGTKANLV TPRNGEPLIA AIQDFLTGAY 550
LLTLKDTFFD RAKACQIIAS ILVGKDEKIK VRLPPPTILK PVTLWTGKQI 600
FSVILRPSDD NPVRANLRTK GKQYCGKGED LCANDSYVTI QNSELMSGSM 650
DKGTLGSGSK NNIFYILLRD WGQNEAADAM SRLARLAPVY LSNRGFSIGI 700
GDVTPGQGLL KAKYELLNAG YKKCDEYIEA LNTGKLQQQP GCTAEETLEA 750
LILKELSVIR DHAGSACLRE LDKSNSPLTM ALCGSKGSFI NISQMIACVG 800
QQAISGSRVP DGFENRSLPH FEKHSKLPAA KGFVANSFYS GLTPTEFFFH 850
TMAGREGLVD TAVKTAETGY MQRRLVKSLE DLCSQYDLTV RSSTGDIIQF 900
IYGGDGLDPA AMEGKDEPLE FKRVLDNIKA VFPCPSEPAL SKNELILTTE 950
SIMKKSEFLC CQDSFLQEIK KFIKGVSEKI KKTRDKYGIN DNGTTEPRVL 1000
YQLDRITPTQ VEKFLETCRD KYMRAQMEPG SAVGALCAQS IGEPGTQMTL 1050
KTFHFAGVAS MNITLGVPRI KEIINASKAI STPIITAQLD KDDDADYARL 1100
VKGRIEKTLL GEISEYIEEV FLPDDCFILV KLSLERIRLL RLEVNAETVR 1150
YSICTSKLRV KPGDVAVHGE AVVCVTPREN SKSSMYYVLQ FLKEDLPKVV 1200
VQGIPEVSRA VIHIDEQSGK EKYKLLVEGD NLRAVMATHG VKGTRTTSNN 1250
TYEVEKTLGI EAARTTIINE IQYTMVNHGM SIDRRHVMLL SDLMTYKGEV 1300
LGITRFGLAK MKESVLMLAS FEKTADHLFD AAYFGQKDSV CGVSECIIMG 1350
IPMNIGTGLF KLLHKADRDP NPPKRPLIFD TNEFHIPLVT 1390
Length:1,390
Mass (Da):155,641
Last modified:September 23, 2008 - v2
Checksum:i56F30900848E3DB9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti372 – 3721D → N in HLD7. 1 Publication
VAR_066516
Natural varianti558 – 5581F → L in HLD7. 1 Publication
VAR_066517
Natural varianti582 – 5821R → L.
Corresponds to variant rs34588967 [ dbSNP | Ensembl ].
VAR_051873
Natural varianti636 – 6361S → Y in HLD7. 1 Publication
VAR_066518
Natural varianti672 – 6721G → E in HLD7. 1 Publication
VAR_066519
Natural varianti713 – 7131K → N.
Corresponds to variant rs35354908 [ dbSNP | Ensembl ].
VAR_051874
Natural varianti724 – 7241C → Y in HLD7. 1 Publication
VAR_066520
Natural varianti775 – 7751N → I in HLD7. 1 Publication
VAR_066521
Natural varianti852 – 8521M → V in HLD7. 1 Publication
VAR_066522
Natural varianti897 – 8971I → N in HLD7. 1 Publication
VAR_067004
Natural varianti1005 – 10051R → C in HLD7. 1 Publication
VAR_066523
Natural varianti1247 – 12471T → TT in HLD7. 1 Publication
VAR_066524

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151I → T in AAB86536. 1 Publication
Sequence conflicti262 – 2621I → F in AAB86536. 1 Publication
Sequence conflicti283 – 2831L → P in AAM12029. 1 Publication
Sequence conflicti1056 – 10561A → G in AAB86536. 1 Publication
Sequence conflicti1275 – 12751M → MV in AAB86536. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF021351 mRNA. Translation: AAB86536.1.
AL512628 Genomic DNA. Translation: CAI16466.1.
CH471083 Genomic DNA. Translation: EAW54617.1.
BC041089 mRNA. Translation: AAH41089.1.
AY091459 mRNA. Translation: AAM12029.1.
CCDSiCCDS7354.1.
RefSeqiNP_008986.2. NM_007055.3.
UniGeneiHs.436896.

Genome annotation databases

EnsembliENST00000372371; ENSP00000361446; ENSG00000148606.
GeneIDi11128.
KEGGihsa:11128.
UCSCiuc001jzn.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF021351 mRNA. Translation: AAB86536.1 .
AL512628 Genomic DNA. Translation: CAI16466.1 .
CH471083 Genomic DNA. Translation: EAW54617.1 .
BC041089 mRNA. Translation: AAH41089.1 .
AY091459 mRNA. Translation: AAM12029.1 .
CCDSi CCDS7354.1.
RefSeqi NP_008986.2. NM_007055.3.
UniGenei Hs.436896.

3D structure databases

ProteinModelPortali O14802.
SMRi O14802. Positions 13-1363.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116301. 26 interactions.
IntActi O14802. 3 interactions.
STRINGi 9606.ENSP00000361446.

PTM databases

PhosphoSitei O14802.

Proteomic databases

MaxQBi O14802.
PaxDbi O14802.
PRIDEi O14802.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372371 ; ENSP00000361446 ; ENSG00000148606 .
GeneIDi 11128.
KEGGi hsa:11128.
UCSCi uc001jzn.3. human.

Organism-specific databases

CTDi 11128.
GeneCardsi GC10M079729.
GeneReviewsi POLR3A.
HGNCi HGNC:30074. POLR3A.
HPAi HPA037926.
HPA037927.
MIMi 607694. phenotype.
614258. gene.
neXtProti NX_O14802.
Orphaneti 88637. Hypomyelination - hypogonadotropic hypogonadism - hypodontia.
77295. Odontoleukodystrophy.
PharmGKBi PA134900426.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0086.
HOGENOMi HOG000222974.
HOVERGENi HBG004339.
InParanoidi O14802.
KOi K03018.
OMAi HKADRDP.
OrthoDBi EOG761BSV.
PhylomeDBi O14802.
TreeFami TF103054.

Enzyme and pathway databases

Reactomei REACT_1036. RNA Polymerase III Transcription Initiation From Type 2 Promoter.
REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
REACT_347. RNA Polymerase III Transcription Initiation From Type 1 Promoter.
REACT_571. RNA Polymerase III Transcription Initiation From Type 3 Promoter.
REACT_63. RNA Polymerase III Transcription Termination.
REACT_756. RNA Polymerase III Chain Elongation.

Miscellaneous databases

ChiTaRSi POLR3A. human.
GenomeRNAii 11128.
NextBioi 42292.
PROi O14802.
SOURCEi Search...

Gene expression databases

ArrayExpressi O14802.
Bgeei O14802.
CleanExi HS_POLR3A.
Genevestigatori O14802.

Family and domain databases

InterProi IPR000722. RNA_pol_asu.
IPR006592. RNA_pol_N.
IPR007080. RNA_pol_Rpb1_1.
IPR007066. RNA_pol_Rpb1_3.
IPR007083. RNA_pol_Rpb1_4.
IPR007081. RNA_pol_Rpb1_5.
IPR015700. RPC1.
[Graphical view ]
PANTHERi PTHR19376:SF31. PTHR19376:SF31. 1 hit.
Pfami PF04997. RNA_pol_Rpb1_1. 1 hit.
PF00623. RNA_pol_Rpb1_2. 1 hit.
PF04983. RNA_pol_Rpb1_3. 1 hit.
PF05000. RNA_pol_Rpb1_4. 1 hit.
PF04998. RNA_pol_Rpb1_5. 1 hit.
[Graphical view ]
SMARTi SM00663. RPOLA_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III."
    Sepehri S., Hernandez N.
    Genome Res. 7:1006-1019(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  5. "Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assay."
    Kuwana M., Kimura K., Kawakami Y.
    Arthritis Rheum. 46:2742-2747(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-374.
  6. "Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits."
    Hu P., Wu S., Sun Y., Yuan C.-C., Kobayashi R., Myers M.P., Hernandez N.
    Mol. Cell. Biol. 22:8044-8055(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE RNA POL III COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  7. "RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway."
    Chiu Y.-H., Macmillan J.B., Chen Z.J.
    Cell 138:576-591(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate."
    Ablasser A., Bauernfeind F., Hartmann G., Latz E., Fitzgerald K.A., Hornung V.
    Nat. Immunol. 10:1065-1072(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-445, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. Cited for: VARIANTS HLD7 ASN-372; LEU-558; TYR-636; GLU-672; TYR-724; ILE-775; VAL-852 AND THR-1247 INS, TISSUE SPECIFICITY.
  12. "Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy."
    Saitsu H., Osaka H., Sasaki M., Takanashi J., Hamada K., Yamashita A., Shibayama H., Shiina M., Kondo Y., Nishiyama K., Tsurusaki Y., Miyake N., Doi H., Ogata K., Inoue K., Matsumoto N.
    Am. J. Hum. Genet. 89:644-651(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HLD7 ASN-897 AND CYS-1005.

Entry informationi

Entry nameiRPC1_HUMAN
AccessioniPrimary (citable) accession number: O14802
Secondary accession number(s): Q8IW34, Q8TCW5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: September 23, 2008
Last modified: September 3, 2014
This is version 132 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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