Full text data of EML2
EML2
(EMAP2, EMAPL2)
[Confidence: low (only semi-automatic identification from reviews)]
Echinoderm microtubule-associated protein-like 2; EMAP-2; HuEMAP-2
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Echinoderm microtubule-associated protein-like 2; EMAP-2; HuEMAP-2
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
O95834
ID EMAL2_HUMAN Reviewed; 649 AA.
AC O95834; B7Z3I2; B7Z3Q9; K7ERL7; Q59EN8; Q8N5A2; Q9UG50;
DT 18-OCT-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-1999, sequence version 1.
DT 22-JAN-2014, entry version 119.
DE RecName: Full=Echinoderm microtubule-associated protein-like 2;
DE Short=EMAP-2;
DE Short=HuEMAP-2;
GN Name=EML2; Synonyms=EMAP2, EMAPL2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=10521658; DOI=10.1016/S0378-1119(99)00335-2;
RA Lepley D.M., Palange J.M., Suprenant K.A.;
RT "Sequence and expression patterns of a human EMAP-related protein-2
RT (HuEMAP-2).";
RL Gene 237:343-349(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 33-850 (ISOFORM 3).
RC TISSUE=Substantia nigra, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-427 (ISOFORM 1).
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-649 (ISOFORM 1), AND
RP VARIANT ASP-235.
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] LEU-484.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May modify the assembly dynamics of microtubules, such
CC that microtubules are slightly longer, but more dynamic (By
CC similarity).
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Potential).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O95834-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95834-2; Sequence=VSP_042541;
CC Note=No experimental confirmation available;
CC Name=3;
CC IsoId=O95834-3; Sequence=VSP_047538;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Ubiquitous.
CC -!- SIMILARITY: Belongs to the WD repeat EMAP family.
CC -!- SIMILARITY: Contains 11 WD repeats.
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DR EMBL; AF103939; AAD19904.1; -; mRNA.
DR EMBL; AL096717; CAB46373.2; -; mRNA.
DR EMBL; AK295905; BAH12218.1; -; mRNA.
DR EMBL; AK296258; BAH12295.1; -; mRNA.
DR EMBL; AC006132; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011480; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC098776; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032630; AAH32630.1; -; mRNA.
DR EMBL; AB209773; BAD93010.1; -; mRNA.
DR RefSeq; NP_001180197.1; NM_001193268.1.
DR RefSeq; NP_001180198.1; NM_001193269.1.
DR RefSeq; NP_036287.1; NM_012155.2.
DR UniGene; Hs.24178; -.
DR ProteinModelPortal; O95834; -.
DR SMR; O95834; 306-646.
DR MINT; MINT-4527842; -.
DR PhosphoSite; O95834; -.
DR PaxDb; O95834; -.
DR PRIDE; O95834; -.
DR Ensembl; ENST00000245925; ENSP00000245925; ENSG00000125746.
DR Ensembl; ENST00000536630; ENSP00000442365; ENSG00000125746.
DR Ensembl; ENST00000587152; ENSP00000468312; ENSG00000125746.
DR Ensembl; ENST00000588308; ENSP00000468329; ENSG00000125746.
DR GeneID; 24139; -.
DR KEGG; hsa:24139; -.
DR UCSC; uc010xxm.2; human.
DR CTD; 24139; -.
DR GeneCards; GC19M046112; -.
DR HGNC; HGNC:18035; EML2.
DR HPA; HPA012757; -.
DR neXtProt; NX_O95834; -.
DR PharmGKB; PA27768; -.
DR eggNOG; COG2319; -.
DR HOVERGEN; HBG051470; -.
DR InParanoid; O95834; -.
DR OMA; DANDHIL; -.
DR PhylomeDB; O95834; -.
DR SignaLink; O95834; -.
DR ChiTaRS; EML2; human.
DR GenomeRNAi; 24139; -.
DR NextBio; 46809; -.
DR PRO; PR:O95834; -.
DR ArrayExpress; O95834; -.
DR Bgee; O95834; -.
DR CleanEx; HS_EML2; -.
DR Genevestigator; O95834; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0005875; C:microtubule associated complex; TAS:ProtInc.
DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR005108; HELP.
DR InterPro; IPR011047; Quinonprotein_ADH-like_supfam.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR017986; WD40_repeat_dom.
DR Pfam; PF03451; HELP; 1.
DR Pfam; PF00400; WD40; 5.
DR SMART; SM00320; WD40; 11.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF50998; SSF50998; 3.
DR PROSITE; PS00678; WD_REPEATS_1; FALSE_NEG.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Cytoplasm; Cytoskeleton;
KW Microtubule; Polymorphism; Reference proteome; Repeat; WD repeat.
FT CHAIN 1 649 Echinoderm microtubule-associated
FT protein-like 2.
FT /FTId=PRO_0000050962.
FT REPEAT 103 152 WD 1.
FT REPEAT 157 200 WD 2.
FT REPEAT 203 242 WD 3.
FT REPEAT 250 288 WD 4.
FT REPEAT 292 331 WD 5.
FT REPEAT 375 414 WD 6.
FT REPEAT 416 455 WD 7.
FT REPEAT 458 497 WD 8.
FT REPEAT 504 543 WD 9.
FT REPEAT 571 610 WD 10.
FT REPEAT 616 648 WD 11.
FT VAR_SEQ 1 6 MSSFGA -> MSLDDNLSGTSGMEVDDRVSALEQRLQLQED
FT ELAVLKAALADALRRLRACEEQGAALRARGTPKGRAPPRLG
FT TTASVCQLLKGLPTRTPLNGSGPPRRVGGYATSPSSPKKEA
FT TSGRSSVRRYLSPERLASVRREDPRSRTTSSSSNCSAKKE
FT (in isoform 2).
FT /FTId=VSP_042541.
FT VAR_SEQ 1 6 MSSFGA -> MLERRALLWQREAGPGWGDRARAGTGGAGGG
FT CGGAMAERGPAFCGLYDTSSLLRYCNDDNLSGTSGMEVDDR
FT VSALEQRLQLQEDELAVLKAALADALRRLRACEEQGAALRA
FT RGTPKGRAPPRLGTTASVCQLLKGLPTRTPLNGSGPPRRVG
FT GYATSPSSPKKEATSGRSSVRRYLSPERLASVRREDPRSRT
FT TSSSSNCSAKKE (in isoform 3).
FT /FTId=VSP_047538.
FT VARIANT 33 33 M -> V (in dbSNP:rs12151009).
FT /FTId=VAR_031723.
FT VARIANT 187 187 L -> F (in dbSNP:rs7252175).
FT /FTId=VAR_031724.
FT VARIANT 235 235 E -> D (in dbSNP:rs1545040).
FT /FTId=VAR_024697.
FT VARIANT 357 357 R -> H (in dbSNP:rs3816045).
FT /FTId=VAR_022026.
FT VARIANT 484 484 V -> L (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_035879.
FT CONFLICT 294 294 D -> G (in Ref. 3; CAB46373).
FT CONFLICT 419 427 DPARSAGFH -> MAAAGHGDP (in Ref. 3;
FT AAH32630).
FT CONFLICT 582 582 S -> F (in Ref. 3; CAB46373).
SQ SEQUENCE 649 AA; 70679 MW; F356D3D974D208C9 CRC64;
MSSFGAGKTK EVIFSVEDGS VKMFLRGRPV PMMIPDELAP TYSLDTRSEL PSCRLKLEWV
YGYRGRDCRA NLYLLPTGEI VYFVASVAVL YSVEEQRQRH YLGHNDDIKC LAIHPDMVTI
ATGQVAGTTK EGKPLPPHVR IWDSVSLSTL HVLGLGVFDR AVCCVGFSKS NGGNLLCAVD
ESNDHMLSVW DWAKETKVVD VKCSNEAVLV ATFHPTDPTV LITCGKSHIY FWTLEGGSLS
KRQGLFEKHE KPKYVLCVTF LEGGDVVTGD SGGNLYVWGK GGNRITQAVL GAHDGGVFGL
CALRDGTLVS GGGRDRRVVL WGSDYSKLQE VEVPEDFGPV RTVAEGHGDT LYVGTTRNSI
LQGSVHTGFS LLVQGHVEEL WGLATHPSRA QFVTCGQDKL VHLWSSDSHQ PLWSRIIEDP
ARSAGFHPSG SVLAVGTVTG RWLLLDTETH DLVAIHTDGN EQISVVSFSP DGAYLAVGSH
DNLVYVYTVD QGGRKVSRLG KCSGHSSFIT HLDWAQDSSC FVTNSGDYEI LYWDPATCKQ
ITSADAVRNM EWATATCVLG FGVFGIWSEG ADGTDINAVA RSHDGKLLAS ADDFGKVHLF
SYPCCQPRAL SHKYGGHSSH VTNVAFLWDD SMALTTGGKD TSVLQWRVV
//
ID EMAL2_HUMAN Reviewed; 649 AA.
AC O95834; B7Z3I2; B7Z3Q9; K7ERL7; Q59EN8; Q8N5A2; Q9UG50;
DT 18-OCT-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-1999, sequence version 1.
DT 22-JAN-2014, entry version 119.
DE RecName: Full=Echinoderm microtubule-associated protein-like 2;
DE Short=EMAP-2;
DE Short=HuEMAP-2;
GN Name=EML2; Synonyms=EMAP2, EMAPL2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=10521658; DOI=10.1016/S0378-1119(99)00335-2;
RA Lepley D.M., Palange J.M., Suprenant K.A.;
RT "Sequence and expression patterns of a human EMAP-related protein-2
RT (HuEMAP-2).";
RL Gene 237:343-349(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 33-850 (ISOFORM 3).
RC TISSUE=Substantia nigra, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-427 (ISOFORM 1).
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-649 (ISOFORM 1), AND
RP VARIANT ASP-235.
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] LEU-484.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May modify the assembly dynamics of microtubules, such
CC that microtubules are slightly longer, but more dynamic (By
CC similarity).
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Potential).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O95834-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95834-2; Sequence=VSP_042541;
CC Note=No experimental confirmation available;
CC Name=3;
CC IsoId=O95834-3; Sequence=VSP_047538;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Ubiquitous.
CC -!- SIMILARITY: Belongs to the WD repeat EMAP family.
CC -!- SIMILARITY: Contains 11 WD repeats.
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DR EMBL; AF103939; AAD19904.1; -; mRNA.
DR EMBL; AL096717; CAB46373.2; -; mRNA.
DR EMBL; AK295905; BAH12218.1; -; mRNA.
DR EMBL; AK296258; BAH12295.1; -; mRNA.
DR EMBL; AC006132; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011480; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC098776; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032630; AAH32630.1; -; mRNA.
DR EMBL; AB209773; BAD93010.1; -; mRNA.
DR RefSeq; NP_001180197.1; NM_001193268.1.
DR RefSeq; NP_001180198.1; NM_001193269.1.
DR RefSeq; NP_036287.1; NM_012155.2.
DR UniGene; Hs.24178; -.
DR ProteinModelPortal; O95834; -.
DR SMR; O95834; 306-646.
DR MINT; MINT-4527842; -.
DR PhosphoSite; O95834; -.
DR PaxDb; O95834; -.
DR PRIDE; O95834; -.
DR Ensembl; ENST00000245925; ENSP00000245925; ENSG00000125746.
DR Ensembl; ENST00000536630; ENSP00000442365; ENSG00000125746.
DR Ensembl; ENST00000587152; ENSP00000468312; ENSG00000125746.
DR Ensembl; ENST00000588308; ENSP00000468329; ENSG00000125746.
DR GeneID; 24139; -.
DR KEGG; hsa:24139; -.
DR UCSC; uc010xxm.2; human.
DR CTD; 24139; -.
DR GeneCards; GC19M046112; -.
DR HGNC; HGNC:18035; EML2.
DR HPA; HPA012757; -.
DR neXtProt; NX_O95834; -.
DR PharmGKB; PA27768; -.
DR eggNOG; COG2319; -.
DR HOVERGEN; HBG051470; -.
DR InParanoid; O95834; -.
DR OMA; DANDHIL; -.
DR PhylomeDB; O95834; -.
DR SignaLink; O95834; -.
DR ChiTaRS; EML2; human.
DR GenomeRNAi; 24139; -.
DR NextBio; 46809; -.
DR PRO; PR:O95834; -.
DR ArrayExpress; O95834; -.
DR Bgee; O95834; -.
DR CleanEx; HS_EML2; -.
DR Genevestigator; O95834; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0005875; C:microtubule associated complex; TAS:ProtInc.
DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR005108; HELP.
DR InterPro; IPR011047; Quinonprotein_ADH-like_supfam.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR017986; WD40_repeat_dom.
DR Pfam; PF03451; HELP; 1.
DR Pfam; PF00400; WD40; 5.
DR SMART; SM00320; WD40; 11.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF50998; SSF50998; 3.
DR PROSITE; PS00678; WD_REPEATS_1; FALSE_NEG.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Cytoplasm; Cytoskeleton;
KW Microtubule; Polymorphism; Reference proteome; Repeat; WD repeat.
FT CHAIN 1 649 Echinoderm microtubule-associated
FT protein-like 2.
FT /FTId=PRO_0000050962.
FT REPEAT 103 152 WD 1.
FT REPEAT 157 200 WD 2.
FT REPEAT 203 242 WD 3.
FT REPEAT 250 288 WD 4.
FT REPEAT 292 331 WD 5.
FT REPEAT 375 414 WD 6.
FT REPEAT 416 455 WD 7.
FT REPEAT 458 497 WD 8.
FT REPEAT 504 543 WD 9.
FT REPEAT 571 610 WD 10.
FT REPEAT 616 648 WD 11.
FT VAR_SEQ 1 6 MSSFGA -> MSLDDNLSGTSGMEVDDRVSALEQRLQLQED
FT ELAVLKAALADALRRLRACEEQGAALRARGTPKGRAPPRLG
FT TTASVCQLLKGLPTRTPLNGSGPPRRVGGYATSPSSPKKEA
FT TSGRSSVRRYLSPERLASVRREDPRSRTTSSSSNCSAKKE
FT (in isoform 2).
FT /FTId=VSP_042541.
FT VAR_SEQ 1 6 MSSFGA -> MLERRALLWQREAGPGWGDRARAGTGGAGGG
FT CGGAMAERGPAFCGLYDTSSLLRYCNDDNLSGTSGMEVDDR
FT VSALEQRLQLQEDELAVLKAALADALRRLRACEEQGAALRA
FT RGTPKGRAPPRLGTTASVCQLLKGLPTRTPLNGSGPPRRVG
FT GYATSPSSPKKEATSGRSSVRRYLSPERLASVRREDPRSRT
FT TSSSSNCSAKKE (in isoform 3).
FT /FTId=VSP_047538.
FT VARIANT 33 33 M -> V (in dbSNP:rs12151009).
FT /FTId=VAR_031723.
FT VARIANT 187 187 L -> F (in dbSNP:rs7252175).
FT /FTId=VAR_031724.
FT VARIANT 235 235 E -> D (in dbSNP:rs1545040).
FT /FTId=VAR_024697.
FT VARIANT 357 357 R -> H (in dbSNP:rs3816045).
FT /FTId=VAR_022026.
FT VARIANT 484 484 V -> L (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_035879.
FT CONFLICT 294 294 D -> G (in Ref. 3; CAB46373).
FT CONFLICT 419 427 DPARSAGFH -> MAAAGHGDP (in Ref. 3;
FT AAH32630).
FT CONFLICT 582 582 S -> F (in Ref. 3; CAB46373).
SQ SEQUENCE 649 AA; 70679 MW; F356D3D974D208C9 CRC64;
MSSFGAGKTK EVIFSVEDGS VKMFLRGRPV PMMIPDELAP TYSLDTRSEL PSCRLKLEWV
YGYRGRDCRA NLYLLPTGEI VYFVASVAVL YSVEEQRQRH YLGHNDDIKC LAIHPDMVTI
ATGQVAGTTK EGKPLPPHVR IWDSVSLSTL HVLGLGVFDR AVCCVGFSKS NGGNLLCAVD
ESNDHMLSVW DWAKETKVVD VKCSNEAVLV ATFHPTDPTV LITCGKSHIY FWTLEGGSLS
KRQGLFEKHE KPKYVLCVTF LEGGDVVTGD SGGNLYVWGK GGNRITQAVL GAHDGGVFGL
CALRDGTLVS GGGRDRRVVL WGSDYSKLQE VEVPEDFGPV RTVAEGHGDT LYVGTTRNSI
LQGSVHTGFS LLVQGHVEEL WGLATHPSRA QFVTCGQDKL VHLWSSDSHQ PLWSRIIEDP
ARSAGFHPSG SVLAVGTVTG RWLLLDTETH DLVAIHTDGN EQISVVSFSP DGAYLAVGSH
DNLVYVYTVD QGGRKVSRLG KCSGHSSFIT HLDWAQDSSC FVTNSGDYEI LYWDPATCKQ
ITSADAVRNM EWATATCVLG FGVFGIWSEG ADGTDINAVA RSHDGKLLAS ADDFGKVHLF
SYPCCQPRAL SHKYGGHSSH VTNVAFLWDD SMALTTGGKD TSVLQWRVV
//