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Protein

tRNA pseudouridine synthase A, mitochondrial

Gene

PUS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).By similarity

Catalytic activityi

tRNA uridine(38-40) = tRNA pseudouridine(38-40).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei146 – 1461NucleophileBy similarity
Binding sitei201 – 2011SubstrateBy similarity

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • pseudouridine synthase activity Source: UniProtKB-EC
  • pseudouridylate synthase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Keywords - Biological processi

tRNA processing

Enzyme and pathway databases

BRENDAi5.4.99.B22. 2681.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.
R-HSA-6787450. tRNA modification in the mitochondrion.

Names & Taxonomyi

Protein namesi
Recommended name:
tRNA pseudouridine synthase A, mitochondrial (EC:5.4.99.12)
Alternative name(s):
tRNA pseudouridine(38-40) synthase
tRNA pseudouridylate synthase I
tRNA-uridine isomerase I
Gene namesi
Name:PUS1
ORF Names:PP8985
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:15508. PUS1.

Subcellular locationi

Isoform 1 :
Isoform 2 :

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth.
See also OMIM:600462
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti144 – 1441R → W in MLASA1. 2 Publications
VAR_021788

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiPUS1.
MIMi600462. phenotype.
Orphaneti2598. Mitochondrial myopathy and sideroblastic anemia.
PharmGKBiPA34047.

Polymorphism and mutation databases

BioMutaiPUS1.
DMDMi114152895.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 427tRNA pseudouridine synthase A, mitochondrialPRO_0000057517
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei415 – 4151PhosphoserineCombined sources
Modified residuei420 – 4201PhosphoserineCombined sources
Modified residuei426 – 4261PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y606.
MaxQBiQ9Y606.
PaxDbiQ9Y606.
PRIDEiQ9Y606.

PTM databases

iPTMnetiQ9Y606.
PhosphoSiteiQ9Y606.
SwissPalmiQ9Y606.

Expressioni

Tissue specificityi

Widely expressed. High levels of expression found in brain and skeletal muscle.1 Publication

Gene expression databases

BgeeiQ9Y606.
CleanExiHS_PUS1.
ExpressionAtlasiQ9Y606. baseline and differential.
GenevisibleiQ9Y606. HS.

Organism-specific databases

HPAiHPA051636.
HPA057593.

Interactioni

Subunit structurei

Forms a complex with RARG and the SRA1 RNA in the nucleus.By similarity

Protein-protein interaction databases

BioGridi123236. 48 interactions.
IntActiQ9Y606. 4 interactions.
MINTiMINT-2823994.
STRINGi9606.ENSP00000365837.

Structurei

Secondary structure

1
427
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi83 – 9210Combined sources
Beta strandi99 – 1013Combined sources
Helixi112 – 12211Combined sources
Helixi128 – 1325Combined sources
Helixi134 – 1374Combined sources
Beta strandi140 – 1423Combined sources
Beta strandi150 – 16112Combined sources
Helixi166 – 1727Combined sources
Beta strandi178 – 1869Combined sources
Helixi192 – 1954Combined sources
Beta strandi198 – 2069Combined sources
Helixi207 – 2104Combined sources
Turni213 – 2153Combined sources
Helixi226 – 23813Combined sources
Beta strandi241 – 2444Combined sources
Helixi246 – 2483Combined sources
Beta strandi249 – 2513Combined sources
Beta strandi252 – 2543Combined sources
Helixi257 – 2593Combined sources
Beta strandi260 – 2689Combined sources
Beta strandi272 – 2743Combined sources
Beta strandi277 – 28812Combined sources
Helixi293 – 30513Combined sources
Helixi313 – 3175Combined sources
Beta strandi319 – 3213Combined sources
Beta strandi333 – 3386Combined sources
Helixi341 – 3444Combined sources
Helixi359 – 3613Combined sources
Helixi362 – 37110Combined sources
Helixi373 – 38412Combined sources
Helixi386 – 3916Combined sources
Helixi392 – 3965Combined sources
Helixi401 – 4044Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4IQMX-ray1.80A79-408[»]
4ITSX-ray1.85A79-408[»]
4J37X-ray1.75A79-408[»]
4NZ6X-ray2.00A/B83-394[»]
4NZ7X-ray2.70A83-394[»]
ProteinModelPortaliQ9Y606.
SMRiQ9Y606. Positions 83-394.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2553. Eukaryota.
COG0101. LUCA.
GeneTreeiENSGT00510000047706.
HOGENOMiHOG000031229.
HOVERGENiHBG000489.
InParanoidiQ9Y606.
KOiK06173.
OMAiRTKFELI.
OrthoDBiEOG79KPFG.
PhylomeDBiQ9Y606.
TreeFamiTF314367.

Family and domain databases

Gene3Di3.30.70.580. 1 hit.
3.30.70.660. 1 hit.
InterProiIPR020103. PsdUridine_synth_cat_dom.
IPR001406. PsdUridine_synth_TruA.
IPR020097. PsdUridine_synth_TruA_a/b_dom.
IPR020095. PsdUridine_synth_TruA_C.
IPR020094. PsdUridine_synth_TruA_N.
[Graphical view]
PANTHERiPTHR11142. PTHR11142. 1 hit.
PfamiPF01416. PseudoU_synth_1. 1 hit.
[Graphical view]
SUPFAMiSSF55120. SSF55120. 1 hit.
TIGRFAMsiTIGR00071. hisT_truA. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y606-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGLQLRALLG AFGRWTLRLG PRPSCSPRMA GNAEPPPAGA ACPQDRRSCS
60 70 80 90 100
GRAGGDRVWE DGEHPAKKLK SGGDEERREK PPKRKIVLLM AYSGKGYHGM
110 120 130 140 150
QRNVGSSQFK TIEDDLVSAL VRSGCIPENH GEDMRKMSFQ RCARTDKGVS
160 170 180 190 200
AAGQVVSLKV WLIDDILEKI NSHLPSHIRI LGLKRVTGGF NSKNRCDART
210 220 230 240 250
YCYLLPTFAF AHKDRDVQDE TYRLSAETLQ QVNRLLACYK GTHNFHNFTS
260 270 280 290 300
QKGPQDPSAC RYILEMYCEE PFVREGLEFA VIRVKGQSFM MHQIRKMVGL
310 320 330 340 350
VVAIVKGYAP ESVLERSWGT EKVDVPKAPG LGLVLERVHF EKYNQRFGND
360 370 380 390 400
GLHEPLDWAQ EEGKVAAFKE EHIYPTIIGT ERDERSMAQW LSTLPIHNFS
410 420
ATALTAGGTG AKVPSPLEGS EGDGDTD
Length:427
Mass (Da):47,470
Last modified:September 5, 2006 - v3
Checksum:iACE9FA6AE0F178BA
GO
Isoform 2 (identifier: Q9Y606-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:399
Mass (Da):44,377
Checksum:i56F36851979AFE3B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701K → R in AAD21042 (PubMed:10094309).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331D → N in a breast cancer sample; somatic mutation. 1 Publication
VAR_036447
Natural varianti144 – 1441R → W in MLASA1. 2 Publications
VAR_021788

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2828Missing in isoform 2. 2 PublicationsVSP_020116Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF318369 mRNA. Translation: AAL55876.1.
AK074659 mRNA. Translation: BAG51983.1.
AK292242 mRNA. Translation: BAF84931.1.
BC002901 mRNA. Translation: AAH02901.1.
BC009505 mRNA. Translation: AAH09505.2.
BC019320 mRNA. Translation: AAH19320.2.
AF116238 mRNA. Translation: AAD21042.1.
CCDSiCCDS31928.1. [Q9Y606-2]
CCDS9275.2. [Q9Y606-1]
RefSeqiNP_001002019.1. NM_001002019.2. [Q9Y606-2]
NP_001002020.1. NM_001002020.2. [Q9Y606-2]
NP_079491.2. NM_025215.5. [Q9Y606-1]
UniGeneiHs.592004.

Genome annotation databases

EnsembliENST00000376649; ENSP00000365837; ENSG00000177192. [Q9Y606-1]
ENST00000443358; ENSP00000392451; ENSG00000177192. [Q9Y606-2]
GeneIDi80324.
KEGGihsa:80324.
UCSCiuc001ujf.4. human. [Q9Y606-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF318369 mRNA. Translation: AAL55876.1.
AK074659 mRNA. Translation: BAG51983.1.
AK292242 mRNA. Translation: BAF84931.1.
BC002901 mRNA. Translation: AAH02901.1.
BC009505 mRNA. Translation: AAH09505.2.
BC019320 mRNA. Translation: AAH19320.2.
AF116238 mRNA. Translation: AAD21042.1.
CCDSiCCDS31928.1. [Q9Y606-2]
CCDS9275.2. [Q9Y606-1]
RefSeqiNP_001002019.1. NM_001002019.2. [Q9Y606-2]
NP_001002020.1. NM_001002020.2. [Q9Y606-2]
NP_079491.2. NM_025215.5. [Q9Y606-1]
UniGeneiHs.592004.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4IQMX-ray1.80A79-408[»]
4ITSX-ray1.85A79-408[»]
4J37X-ray1.75A79-408[»]
4NZ6X-ray2.00A/B83-394[»]
4NZ7X-ray2.70A83-394[»]
ProteinModelPortaliQ9Y606.
SMRiQ9Y606. Positions 83-394.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123236. 48 interactions.
IntActiQ9Y606. 4 interactions.
MINTiMINT-2823994.
STRINGi9606.ENSP00000365837.

PTM databases

iPTMnetiQ9Y606.
PhosphoSiteiQ9Y606.
SwissPalmiQ9Y606.

Polymorphism and mutation databases

BioMutaiPUS1.
DMDMi114152895.

Proteomic databases

EPDiQ9Y606.
MaxQBiQ9Y606.
PaxDbiQ9Y606.
PRIDEiQ9Y606.

Protocols and materials databases

DNASUi80324.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376649; ENSP00000365837; ENSG00000177192. [Q9Y606-1]
ENST00000443358; ENSP00000392451; ENSG00000177192. [Q9Y606-2]
GeneIDi80324.
KEGGihsa:80324.
UCSCiuc001ujf.4. human. [Q9Y606-1]

Organism-specific databases

CTDi80324.
GeneCardsiPUS1.
HGNCiHGNC:15508. PUS1.
HPAiHPA051636.
HPA057593.
MalaCardsiPUS1.
MIMi600462. phenotype.
608109. gene.
neXtProtiNX_Q9Y606.
Orphaneti2598. Mitochondrial myopathy and sideroblastic anemia.
PharmGKBiPA34047.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2553. Eukaryota.
COG0101. LUCA.
GeneTreeiENSGT00510000047706.
HOGENOMiHOG000031229.
HOVERGENiHBG000489.
InParanoidiQ9Y606.
KOiK06173.
OMAiRTKFELI.
OrthoDBiEOG79KPFG.
PhylomeDBiQ9Y606.
TreeFamiTF314367.

Enzyme and pathway databases

BRENDAi5.4.99.B22. 2681.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.
R-HSA-6787450. tRNA modification in the mitochondrion.

Miscellaneous databases

ChiTaRSiPUS1. human.
GeneWikiiPUS1.
GenomeRNAii80324.
NextBioi70847.
PROiQ9Y606.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y606.
CleanExiHS_PUS1.
ExpressionAtlasiQ9Y606. baseline and differential.
GenevisibleiQ9Y606. HS.

Family and domain databases

Gene3Di3.30.70.580. 1 hit.
3.30.70.660. 1 hit.
InterProiIPR020103. PsdUridine_synth_cat_dom.
IPR001406. PsdUridine_synth_TruA.
IPR020097. PsdUridine_synth_TruA_a/b_dom.
IPR020095. PsdUridine_synth_TruA_C.
IPR020094. PsdUridine_synth_TruA_N.
[Graphical view]
PANTHERiPTHR11142. PTHR11142. 1 hit.
PfamiPF01416. PseudoU_synth_1. 1 hit.
[Graphical view]
SUPFAMiSSF55120. SSF55120. 1 hit.
TIGRFAMsiTIGR00071. hisT_truA. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Mammary gland and Testis.
  3. "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] (ISOFORMS 1 AND 2).
    Tissue: Lung.
  4. "Cloning and characterization of a mammalian pseudouridine synthase."
    Chen J., Patton J.R.
    RNA 5:409-419(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 63-427.
    Tissue: Cervix carcinoma.
  5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420 AND THR-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)."
    Fernandez-Vizarra E., Berardinelli A., Valente L., Tiranti V., Zeviani M.
    J. Med. Genet. 44:173-180(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION (ISOFORMS 1 AND 2).
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420 AND THR-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-415; SER-420 AND THR-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420 AND THR-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-420 AND THR-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)."
    Bykhovskaya Y., Casas K., Mengesha E., Inbal A., Fischel-Ghodsian N.
    Am. J. Hum. Genet. 74:1303-1308(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MLASA1 TRP-144, TISSUE SPECIFICITY.
  16. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-133.
  17. "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations."
    Bergmann A.K., Campagna D.R., McLoughlin E.M., Agarwal S., Fleming M.D., Bottomley S.S., Neufeld E.J.
    Pediatr. Blood Cancer 54:273-278(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MLASA1 TRP-144.

Entry informationi

Entry nameiTRUA_HUMAN
AccessioniPrimary (citable) accession number: Q9Y606
Secondary accession number(s): A8K877
, B3KQC1, Q8WYT2, Q9BU44
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 5, 2006
Last modified: May 11, 2016
This is version 150 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.