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Protein

DIS3-like exonuclease 2

Gene

DIS3L2

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

Functioni

3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation.UniRule annotation2 Publications

Cofactori

Mg2+1 Publication1 Publication, Mn2+1 Publication1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi383 – 3831MagnesiumUniRule annotation
Sitei391 – 3911Important for catalytic activityUniRule annotation
Metal bindingi392 – 3921MagnesiumUniRule annotation

GO - Molecular functioni

  • 3'-5'-exoribonuclease activity Source: UniProtKB
  • magnesium ion binding Source: UniProtKB
  • poly(U) RNA binding Source: UniProtKB
  • ribonuclease activity Source: UniProtKB

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • miRNA catabolic process Source: UniProtKB
  • mitotic nuclear division Source: UniProtKB
  • mitotic sister chromatid separation Source: UniProtKB
  • negative regulation of cell proliferation Source: UniProtKB
  • nuclear-transcribed mRNA catabolic process, exonucleolytic Source: UniProtKB
  • nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' Source: InterPro
  • polyuridylation-dependent mRNA catabolic process Source: UniProtKB
  • RNA phosphodiester bond hydrolysis Source: GOC
  • RNA phosphodiester bond hydrolysis, exonucleolytic Source: GOC
  • rRNA catabolic process Source: GO_Central
  • rRNA processing Source: GO_Central
  • stem cell population maintenance Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Exonuclease, Hydrolase, Nuclease

Keywords - Biological processi

Cell cycle, Cell division, Mitosis

Keywords - Ligandi

Magnesium, Metal-binding, RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
DIS3-like exonuclease 2UniRule annotation (EC:3.1.13.-UniRule annotation)
Short name:
hDIS3L2
Gene namesi
Name:DIS3L2UniRule annotation
Synonyms:FAM6A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:28648. DIS3L2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytoplasmic mRNA processing body Source: UniProtKB
  • polysome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Perlman syndrome (PRLMNS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor.
See also OMIM:267000
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti489 – 4891C → Y in PRLMNS. 1 Publication
VAR_067578

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi391 – 3911D → N: Loss of exoribonuclease activity. 2 Publications

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

MalaCardsiDIS3L2.
MIMi267000. phenotype.
Orphaneti654. Nephroblastoma.
2849. Perlman syndrome.
PharmGKBiPA162383714.

Polymorphism and mutation databases

BioMutaiDIS3L2.
DMDMi296439471.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 885885DIS3-like exonuclease 2PRO_0000314817Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei31 – 311PhosphoserineCombined sources
Modified residuei173 – 1731PhosphoserineCombined sources
Modified residuei252 – 2521N6-acetyllysineCombined sources
Modified residuei875 – 8751PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8IYB7.
MaxQBiQ8IYB7.
PaxDbiQ8IYB7.
PRIDEiQ8IYB7.

PTM databases

iPTMnetiQ8IYB7.
PhosphoSiteiQ8IYB7.

Expressioni

Gene expression databases

BgeeiQ8IYB7.
CleanExiHS_DIS3L2.
ExpressionAtlasiQ8IYB7. baseline and differential.
GenevisibleiQ8IYB7. HS.

Organism-specific databases

HPAiHPA035796.
HPA035797.

Interactioni

Protein-protein interaction databases

BioGridi126199. 11 interactions.
IntActiQ8IYB7. 6 interactions.
MINTiMINT-1386910.
STRINGi9606.ENSP00000315569.

Structurei

3D structure databases

ProteinModelPortaliQ8IYB7.
SMRiQ8IYB7. Positions 49-124, 182-858.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

Specifically recognizes and binds polyuridylated RNAs via 3 RNA-binding regions (named U-zone 1, U-zone 2 and U-zone 3) that form an open funnel on one face of the catalytic domain, allowing RNA to navigate a path to the active site.UniRule annotation

Sequence similaritiesi

Belongs to the RNR ribonuclease family. DIS3L2 subfamily.UniRule annotation

Phylogenomic databases

eggNOGiKOG2102. Eukaryota.
COG0557. LUCA.
GeneTreeiENSGT00530000063106.
HOVERGENiHBG107810.
InParanoidiQ8IYB7.
KOiK18758.
OMAiSVPFYTH.
OrthoDBiEOG7WDN1X.
PhylomeDBiQ8IYB7.
TreeFamiTF315191.

Family and domain databases

HAMAPiMF_03045. DIS3L2.
InterProiIPR028591. DIS3L2.
IPR012340. NA-bd_OB-fold.
IPR022966. RNase_II/R_CS.
[Graphical view]
SUPFAMiSSF50249. SSF50249. 4 hits.
PROSITEiPS01175. RIBONUCLEASE_II. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IYB7-1) [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
MSHPDYRMNL RPLGTPRGVS AVAGPHDIGA SPGDKKSKNR STRGKKKSIF
60 70 80 90 100
ETYMSKEDVS EGLKRGTLIQ GVLRINPKKF HEAFIPSPDG DRDIFIDGVV
110 120 130 140 150
ARNRALNGDL VVVKLLPEEH WKVVKPESND KETEAAYESD IPEELCGHHL
160 170 180 190 200
PQQSLKSYND SPDVIVEAQF DGSDSEDGHG ITQNVLVDGV KKLSVCVSEK
210 220 230 240 250
GREDGDAPVT KDETTCISQD TRALSEKSLQ RSAKVVYILE KKHSRAATGF
260 270 280 290 300
LKLLADKNSE LFRKYALFSP SDHRVPRIYV PLKDCPQDFV ARPKDYANTL
310 320 330 340 350
FICRIVDWKE DCNFALGQLA KSLGQAGEIE PETEGILTEY GVDFSDFSSE
360 370 380 390 400
VLECLPQGLP WTIPPEEFSK RRDLRKDCIF TIDPSTARDL DDALSCKPLA
410 420 430 440 450
DGNFKVGVHI ADVSYFVPEG SDLDKVAAER ATSVYLVQKV VPMLPRLLCE
460 470 480 490 500
ELCSLNPMSD KLTFSVIWTL TPEGKILDEW FGRTIIRSCT KLSYEHAQSM
510 520 530 540 550
IESPTEKIPA KELPPISPEH SSEEVHQAVL NLHGIAKQLR QQRFVDGALR
560 570 580 590 600
LDQLKLAFTL DHETGLPQGC HIYEYRESNK LVEEFMLLAN MAVAHKIHRA
610 620 630 640 650
FPEQALLRRH PPPQTRMLSD LVEFCDQMGL PVDFSSAGAL NKSLTQTFGD
660 670 680 690 700
DKYSLARKEV LTNMCSRPMQ MALYFCSGLL QDPAQFRHYA LNVPLYTHFT
710 720 730 740 750
SPIRRFADVL VHRLLAAALG YRERLDMAPD TLQKQADHCN DRRMASKRVQ
760 770 780 790 800
ELSTSLFFAV LVKESGPLES EAMVMGILKQ AFDVLVLRYG VQKRIYCNAL
810 820 830 840 850
ALRSHHFQKV GKKPELTLVW EPEDMEQEPA QQVITIFSLV EVVLQAESTA
860 870 880
LKYSAILKRP GTQGHLGPEK EEEESDGEPE DSSTS
Length:885
Mass (Da):99,279
Last modified:May 18, 2010 - v4
Checksum:i0F6757DCD1975412
GO
Isoform 2 (identifier: Q8IYB7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     581-619: LVEEFMLLAN...HPPPQTRMLS → PCCAGTPRPK...SAPQEPSIKA
     620-885: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:619
Mass (Da):69,046
Checksum:i343D7E3F9701AA00
GO
Isoform 3 (identifier: Q8IYB7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     528-603: AVLNLHGIAK...AHKIHRAFPE → QNADKDGAAH...VEEQTTQLQI
     604-885: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:603
Mass (Da):67,255
Checksum:i1402E1BA371A3E59
GO
Isoform 4 (identifier: Q8IYB7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-249: VYILEKKHSRAATG → IAYRFSPRVQMAFT
     250-885: Missing.

Show »
Length:249
Mass (Da):27,459
Checksum:i6255FF7B3A6D6656
GO
Isoform 5 (identifier: Q8IYB7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     201-356: GREDGDAPVT...FSSEVLECLP → DNEIEAQRSS...VKLSLKQKEY
     357-885: Missing.

Note: No experimental confirmation available.
Show »
Length:356
Mass (Da):40,480
Checksum:iB1D4AA448B6A069E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti16 – 161P → H in AAH36113 (PubMed:15489334).Curated
Sequence conflicti16 – 161P → H in AAH26166 (PubMed:15489334).Curated
Sequence conflicti96 – 961I → F in AAP97321 (Ref. 3) Curated

Polymorphismi

Disrupted by a t(2;7)(q37.1;q21.3) chromosomal translocation found in a patient suffering from Marfanoid habitus and skeletal anomalies. However, its absence does not seem to be the cause of the disease.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121P → S.1 Publication
Corresponds to variant rs723044 [ dbSNP | Ensembl ].
VAR_038059
Natural varianti483 – 4831R → G Probable disease-associated mutation found in a patient with Wilms tumor; does not suppress anchorage-independent cell growth. 1 Publication
Corresponds to variant rs186865544 [ dbSNP | Ensembl ].
VAR_067577
Natural varianti489 – 4891C → Y in PRLMNS. 1 Publication
VAR_067578
Natural varianti576 – 5761R → H Probable disease-associated mutation found in a patient with Wilms tumor; does not suppress anchorage-independent cell growth. 1 Publication
VAR_067579

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei201 – 356156GREDG…LECLP → DNEIEAQRSSWAYPVSHRKS EERMVMHRLQKMRPPAFHKT QELYRRNPCKDQQRWFTSWR KNILEQQPASSNSWLIRTAN CLGNTPCFLPQTTECLEFMC LSRTVPRTLWHGLKIMPTHC SSAALWTGRRTAILPWGSWL RVLGRLVKLSLKQKEY in isoform 5. 1 PublicationVSP_030371Add
BLAST
Alternative sequencei236 – 24914VYILE…RAATG → IAYRFSPRVQMAFT in isoform 4. 2 PublicationsVSP_030372Add
BLAST
Alternative sequencei250 – 885636Missing in isoform 4. 2 PublicationsVSP_030373Add
BLAST
Alternative sequencei357 – 885529Missing in isoform 5. 1 PublicationVSP_030374Add
BLAST
Alternative sequencei528 – 60376AVLNL…RAFPE → QNADKDGAAHLQASHSPSAE DAEAQPSTEERLPETRGICD RDPDTRLFFLQQQSRVLEAK PQNTIRVEEQTTQLQI in isoform 3. 1 PublicationVSP_030375Add
BLAST
Alternative sequencei581 – 61939LVEEF…TRMLS → PCCAGTPRPKQGCSVTWWNS ATRWGCPWTSAPQEPSIKA in isoform 2. 1 PublicationVSP_030376Add
BLAST
Alternative sequencei604 – 885282Missing in isoform 3. 1 PublicationVSP_030377Add
BLAST
Alternative sequencei620 – 885266Missing in isoform 2. 1 PublicationVSP_030378Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK094293 mRNA. Translation: BAC04324.1.
AL834174 mRNA. Translation: CAH10694.1.
BX648325 mRNA. Translation: CAH10545.1.
AF443854 mRNA. Translation: AAP97321.1.
AC019130 Genomic DNA. No translation available.
AC068134 Genomic DNA. Translation: AAY24086.1.
AC093374 Genomic DNA. Translation: AAX82031.1.
AC138658 Genomic DNA. No translation available.
BC026166 mRNA. Translation: AAH26166.1.
BC036113 mRNA. Translation: AAH36113.2.
CCDSiCCDS42834.1. [Q8IYB7-1]
CCDS58752.1. [Q8IYB7-3]
CCDS58753.1. [Q8IYB7-4]
RefSeqiNP_001244210.1. NM_001257281.1. [Q8IYB7-3]
NP_001244211.1. NM_001257282.1. [Q8IYB7-4]
NP_689596.4. NM_152383.4. [Q8IYB7-1]
UniGeneiHs.732236.

Genome annotation databases

EnsembliENST00000273009; ENSP00000273009; ENSG00000144535. [Q8IYB7-3]
ENST00000325385; ENSP00000315569; ENSG00000144535. [Q8IYB7-1]
ENST00000390005; ENSP00000374655; ENSG00000144535. [Q8IYB7-2]
ENST00000409307; ENSP00000386799; ENSG00000144535. [Q8IYB7-1]
ENST00000409401; ENSP00000386594; ENSG00000144535. [Q8IYB7-4]
ENST00000433430; ENSP00000391175; ENSG00000144535. [Q8IYB7-5]
ENST00000445090; ENSP00000388999; ENSG00000144535. [Q8IYB7-4]
GeneIDi129563.
KEGGihsa:129563.
UCSCiuc002vso.4. human. [Q8IYB7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK094293 mRNA. Translation: BAC04324.1.
AL834174 mRNA. Translation: CAH10694.1.
BX648325 mRNA. Translation: CAH10545.1.
AF443854 mRNA. Translation: AAP97321.1.
AC019130 Genomic DNA. No translation available.
AC068134 Genomic DNA. Translation: AAY24086.1.
AC093374 Genomic DNA. Translation: AAX82031.1.
AC138658 Genomic DNA. No translation available.
BC026166 mRNA. Translation: AAH26166.1.
BC036113 mRNA. Translation: AAH36113.2.
CCDSiCCDS42834.1. [Q8IYB7-1]
CCDS58752.1. [Q8IYB7-3]
CCDS58753.1. [Q8IYB7-4]
RefSeqiNP_001244210.1. NM_001257281.1. [Q8IYB7-3]
NP_001244211.1. NM_001257282.1. [Q8IYB7-4]
NP_689596.4. NM_152383.4. [Q8IYB7-1]
UniGeneiHs.732236.

3D structure databases

ProteinModelPortaliQ8IYB7.
SMRiQ8IYB7. Positions 49-124, 182-858.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126199. 11 interactions.
IntActiQ8IYB7. 6 interactions.
MINTiMINT-1386910.
STRINGi9606.ENSP00000315569.

PTM databases

iPTMnetiQ8IYB7.
PhosphoSiteiQ8IYB7.

Polymorphism and mutation databases

BioMutaiDIS3L2.
DMDMi296439471.

Proteomic databases

EPDiQ8IYB7.
MaxQBiQ8IYB7.
PaxDbiQ8IYB7.
PRIDEiQ8IYB7.

Protocols and materials databases

DNASUi129563.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273009; ENSP00000273009; ENSG00000144535. [Q8IYB7-3]
ENST00000325385; ENSP00000315569; ENSG00000144535. [Q8IYB7-1]
ENST00000390005; ENSP00000374655; ENSG00000144535. [Q8IYB7-2]
ENST00000409307; ENSP00000386799; ENSG00000144535. [Q8IYB7-1]
ENST00000409401; ENSP00000386594; ENSG00000144535. [Q8IYB7-4]
ENST00000433430; ENSP00000391175; ENSG00000144535. [Q8IYB7-5]
ENST00000445090; ENSP00000388999; ENSG00000144535. [Q8IYB7-4]
GeneIDi129563.
KEGGihsa:129563.
UCSCiuc002vso.4. human. [Q8IYB7-1]

Organism-specific databases

CTDi129563.
GeneCardsiDIS3L2.
H-InvDBHIX0002923.
HGNCiHGNC:28648. DIS3L2.
HPAiHPA035796.
HPA035797.
MalaCardsiDIS3L2.
MIMi267000. phenotype.
614184. gene.
neXtProtiNX_Q8IYB7.
Orphaneti654. Nephroblastoma.
2849. Perlman syndrome.
PharmGKBiPA162383714.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2102. Eukaryota.
COG0557. LUCA.
GeneTreeiENSGT00530000063106.
HOVERGENiHBG107810.
InParanoidiQ8IYB7.
KOiK18758.
OMAiSVPFYTH.
OrthoDBiEOG7WDN1X.
PhylomeDBiQ8IYB7.
TreeFamiTF315191.

Miscellaneous databases

ChiTaRSiDIS3L2. human.
GeneWikiiDIS3L2_(gene).
GenomeRNAii129563.
NextBioi82609.
PROiQ8IYB7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IYB7.
CleanExiHS_DIS3L2.
ExpressionAtlasiQ8IYB7. baseline and differential.
GenevisibleiQ8IYB7. HS.

Family and domain databases

HAMAPiMF_03045. DIS3L2.
InterProiIPR028591. DIS3L2.
IPR012340. NA-bd_OB-fold.
IPR022966. RNase_II/R_CS.
[Graphical view]
SUPFAMiSSF50249. SSF50249. 4 hits.
PROSITEiPS01175. RIBONUCLEASE_II. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORM 3).
    Tissue: Cerebellum.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 71-885 (ISOFORM 5).
    Tissue: Testis and Uterus.
  3. Zan Q., Guo J.H., Li D., Yu L.
    Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] (ISOFORM 2), VARIANT SER-12.
    Tissue: Testis.
  6. "Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1."
    Rump A., Kasper G., Hayes C., Wen G., Starke H., Liehr T., Lehmann R., Lagemann D., Rosenthal A.
    Genomics 73:50-55(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  7. "Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation."
    Bocciardi R., Giorda R., Buttgereit J., Gimelli S., Divizia M.T., Beri S., Garofalo S., Tavella S., Lerone M., Zuffardi O., Bader M., Ravazzolo R., Gimelli G.
    Hum. Mutat. 28:724-731(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION.
  8. "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-252, 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-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. Cited for: SUBCELLULAR LOCATION, VARIANT PRLMNS TYR-489, VARIANTS GLY-483 AND HIS-576, CHARACTERIZATION OF VARIANTS GLY-483 AND HIS-576.
  12. "Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2."
    Morris M.R., Astuti D., Maher E.R.
    Am. J. Med. Genet. C. Semin. Med. Genet. 0:0-0(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PRLMNS.
  13. "Exonuclease hDIS3L2 specifies an exosome-independent 3'-5' degradation pathway of human cytoplasmic mRNA."
    Lubas M., Damgaard C.K., Tomecki R., Cysewski D., Jensen T.H., Dziembowski A.
    EMBO J. 32:1855-1868(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, COFACTOR, SUBCELLULAR LOCATION, MUTAGENESIS OF ASP-391, INTERACTION WITH XRN1.
  14. "Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome."
    Higashimoto K., Maeda T., Okada J., Ohtsuka Y., Sasaki K., Hirose A., Nomiyama M., Takayanagi T., Fukuzawa R., Yatsuki H., Koide K., Nishioka K., Joh K., Watanabe Y., Yoshiura K., Soejima H.
    Eur. J. Hum. Genet. 21:1316-1319(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PRLMNS.
  15. "Mammalian DIS3L2 exoribonuclease targets the uridylated precursors of let-7 miRNAs."
    Ustianenko D., Hrossova D., Potesil D., Chalupnikova K., Hrazdilova K., Pachernik J., Cetkovska K., Uldrijan S., Zdrahal Z., Vanacova S.
    RNA 19:1632-1638(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, COFACTOR, RNA-BINDING, MUTAGENESIS OF ASP-391.
  16. "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-173, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiDI3L2_HUMAN
AccessioniPrimary (citable) accession number: Q8IYB7
Secondary accession number(s): Q53S79
, Q580W6, Q5XKH0, Q69YG5, Q6AW99, Q7Z4T6, Q8N9K9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 115 of the entry and version 4 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

Caution

Although assigned as two separate genes (DIS3L2 and FAM6A), it is quite clear that the gene FAM6A described by PubMed:11352565 is a fragmentary prediction of DIS3L2.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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

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.