MTURN_HUMAN
ID MTURN_HUMAN Reviewed; 131 AA.
AC Q8N3F0; B8ZZW9; Q8N791; Q8N8M4; Q8NEX2;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2004, sequence version 2.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Maturin;
DE AltName: Full=Maturin neural progenitor differentiation regulator protein homolog;
DE AltName: Full=Protein Ells1;
GN Name=MTURN; Synonyms=C7orf41;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RA Ellsworth R.E., Lee Lin S.-Q., Green E.D.;
RT "A high-resolution 5.0-Megabase transcript map of the CMT2D region on human
RT chromosome 7.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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=Amygdala;
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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA 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=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [5]
RP FUNCTION, INDUCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION AT TYR-34, AND
RP MUTAGENESIS OF TYR-34.
RX PubMed=24681962; DOI=10.1038/bcj.2014.18;
RA Sun X., Lu B., Hu B., Xiao W., Li W., Huang Z.;
RT "Novel function of the chromosome 7 open reading frame 41 gene to promote
RT leukemic megakaryocyte differentiation by modulating TPA-induced
RT signaling.";
RL Blood Cancer J. 4:E198-E198(2014).
CC -!- FUNCTION: Promotes megakaryocyte differentiation by enhancing ERK and
CC JNK signaling as well as up-regulating RUNX1 and FLI1 expression
CC (PubMed:24681962). Represses NF-kappa-B transcriptional activity by
CC inhibiting phosphorylation of RELA at 'Ser-536' (PubMed:24681962). May
CC be involved in early neuronal development (By similarity).
CC {ECO:0000250|UniProtKB:Q7ZX36, ECO:0000269|PubMed:24681962}.
CC -!- INTERACTION:
CC Q8N3F0; Q96CW1: AP2M1; NbExp=3; IntAct=EBI-11980301, EBI-297683;
CC Q8N3F0; Q8N5I2: ARRDC1; NbExp=3; IntAct=EBI-11980301, EBI-2339564;
CC Q8N3F0; Q15038: DAZAP2; NbExp=5; IntAct=EBI-11980301, EBI-724310;
CC Q8N3F0; Q9UHC7: MKRN1; NbExp=3; IntAct=EBI-11980301, EBI-373524;
CC Q8N3F0; Q96CS7: PLEKHB2; NbExp=5; IntAct=EBI-11980301, EBI-373552;
CC Q8N3F0; Q04864-2: REL; NbExp=3; IntAct=EBI-11980301, EBI-10829018;
CC Q8N3F0; Q9NWF9: RNF216; NbExp=3; IntAct=EBI-11980301, EBI-723313;
CC Q8N3F0; Q9H4P4: RNF41; NbExp=3; IntAct=EBI-11980301, EBI-2130266;
CC Q8N3F0; P62979: RPS27A; NbExp=3; IntAct=EBI-11980301, EBI-357375;
CC Q8N3F0; Q16384: SSX1; NbExp=3; IntAct=EBI-11980301, EBI-10237585;
CC Q8N3F0; Q92537: SUSD6; NbExp=3; IntAct=EBI-11980301, EBI-2866213;
CC Q8N3F0; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-11980301, EBI-11528917;
CC Q8N3F0; Q9NS68-2: TNFRSF19; NbExp=3; IntAct=EBI-11980301, EBI-12089038;
CC Q8N3F0; Q05BL1: TP53BP2; NbExp=3; IntAct=EBI-11980301, EBI-11952721;
CC Q8N3F0; Q9Y4K3: TRAF6; NbExp=3; IntAct=EBI-11980301, EBI-359276;
CC Q8N3F0; O00635: TRIM38; NbExp=3; IntAct=EBI-11980301, EBI-2130415;
CC Q8N3F0; Q9HCM9-2: TRIM39; NbExp=3; IntAct=EBI-11980301, EBI-11523450;
CC Q8N3F0; Q9C035-3: TRIM5; NbExp=3; IntAct=EBI-11980301, EBI-12840050;
CC Q8N3F0; Q9BZR9: TRIM8; NbExp=7; IntAct=EBI-11980301, EBI-2340370;
CC Q8N3F0; P62987: UBA52; NbExp=3; IntAct=EBI-11980301, EBI-357304;
CC Q8N3F0; P0CG47: UBB; NbExp=3; IntAct=EBI-11980301, EBI-413034;
CC Q8N3F0; P0CG48: UBC; NbExp=3; IntAct=EBI-11980301, EBI-3390054;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24681962}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8N3F0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N3F0-2; Sequence=VSP_026609;
CC Name=3;
CC IsoId=Q8N3F0-3; Sequence=VSP_026608;
CC Name=4;
CC IsoId=Q8N3F0-4; Sequence=VSP_053525;
CC -!- INDUCTION: Up-regulated by NF-kappa-B RELA/p65 (PubMed:24681962). Up-
CC regulated during 12-O-tetradecanoyl phorbol-acetate (TPA)-induced
CC megakaryocytic differentiation of K562 and HEL cells (PubMed:24681962).
CC {ECO:0000269|PubMed:24681962}.
CC -!- PTM: Phosphorylation at Tyr-34 is essential for its ability to promote
CC megakaryocyte differentiation. {ECO:0000269|PubMed:24681962}.
CC -!- SIMILARITY: Belongs to the MTURN family. {ECO:0000305}.
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DR EMBL; AY054121; AAL14866.1; -; mRNA.
DR EMBL; AK096533; BAC04811.1; -; mRNA.
DR EMBL; AK098769; BAC05408.1; -; mRNA.
DR EMBL; AL834391; CAD39053.2; -; mRNA.
DR EMBL; AC007036; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS5425.2; -. [Q8N3F0-1]
DR RefSeq; NP_690006.2; NM_152793.2. [Q8N3F0-1]
DR RefSeq; XP_005249709.1; XM_005249652.3. [Q8N3F0-1]
DR AlphaFoldDB; Q8N3F0; -.
DR BioGRID; 128785; 35.
DR IntAct; Q8N3F0; 22.
DR STRING; 9606.ENSP00000324204; -.
DR GlyGen; Q8N3F0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N3F0; -.
DR PhosphoSitePlus; Q8N3F0; -.
DR BioMuta; MTURN; -.
DR DMDM; 74714835; -.
DR EPD; Q8N3F0; -.
DR MassIVE; Q8N3F0; -.
DR MaxQB; Q8N3F0; -.
DR PaxDb; Q8N3F0; -.
DR PeptideAtlas; Q8N3F0; -.
DR PRIDE; Q8N3F0; -.
DR ProteomicsDB; 71795; -. [Q8N3F0-1]
DR ProteomicsDB; 71796; -. [Q8N3F0-2]
DR ProteomicsDB; 71797; -. [Q8N3F0-3]
DR ProteomicsDB; 7456; -.
DR Antibodypedia; 35235; 8 antibodies from 7 providers.
DR DNASU; 222166; -.
DR Ensembl; ENST00000324453.13; ENSP00000324204.8; ENSG00000180354.16. [Q8N3F0-1]
DR Ensembl; ENST00000324489.5; ENSP00000324755.5; ENSG00000180354.16. [Q8N3F0-3]
DR Ensembl; ENST00000409688.1; ENSP00000386490.1; ENSG00000180354.16. [Q8N3F0-4]
DR GeneID; 222166; -.
DR KEGG; hsa:222166; -.
DR MANE-Select; ENST00000324453.13; ENSP00000324204.8; NM_152793.3; NP_690006.2.
DR UCSC; uc003tar.2; human. [Q8N3F0-1]
DR CTD; 222166; -.
DR DisGeNET; 222166; -.
DR GeneCards; MTURN; -.
DR HGNC; HGNC:25457; MTURN.
DR HPA; ENSG00000180354; Group enriched (brain, choroid plexus).
DR neXtProt; NX_Q8N3F0; -.
DR OpenTargets; ENSG00000180354; -.
DR PharmGKB; PA147358571; -.
DR VEuPathDB; HostDB:ENSG00000180354; -.
DR eggNOG; ENOG502RXQA; Eukaryota.
DR GeneTree; ENSGT00500000045044; -.
DR HOGENOM; CLU_163056_0_0_1; -.
DR InParanoid; Q8N3F0; -.
DR OMA; YEQYHAD; -.
DR OrthoDB; 1571561at2759; -.
DR PhylomeDB; Q8N3F0; -.
DR TreeFam; TF332814; -.
DR PathwayCommons; Q8N3F0; -.
DR SignaLink; Q8N3F0; -.
DR BioGRID-ORCS; 222166; 10 hits in 1072 CRISPR screens.
DR ChiTaRS; MTURN; human.
DR GenomeRNAi; 222166; -.
DR Pharos; Q8N3F0; Tdark.
DR PRO; PR:Q8N3F0; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N3F0; protein.
DR Bgee; ENSG00000180354; Expressed in inferior vagus X ganglion and 180 other tissues.
DR ExpressionAtlas; Q8N3F0; baseline and differential.
DR Genevisible; Q8N3F0; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0032088; P:negative regulation of NF-kappaB transcription factor activity; IMP:UniProtKB.
DR GO; GO:0070374; P:positive regulation of ERK1 and ERK2 cascade; IMP:UniProtKB.
DR GO; GO:0046330; P:positive regulation of JNK cascade; IMP:UniProtKB.
DR GO; GO:0045654; P:positive regulation of megakaryocyte differentiation; IMP:UniProtKB.
DR GO; GO:0023051; P:regulation of signaling; IBA:GO_Central.
DR InterPro; IPR027892; Maturin.
DR PANTHER; PTHR32008; PTHR32008; 1.
DR Pfam; PF15167; DUF4581; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Developmental protein; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..131
FT /note="Maturin"
FT /id="PRO_0000294233"
FT REGION 107..131
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 34
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000269|PubMed:24681962"
FT VAR_SEQ 1..54
FT /note="MDFQQLADVAEKWCSNTPFELIATEETERRMDFYADPGVSFYVLCPDNGCGD
FT NF -> MATHCPLYCVGADLMMNRAGE (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026608"
FT VAR_SEQ 55..95
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_053525"
FT VAR_SEQ 95..131
FT /note="PLLGLPDADDDAFEEYSADVEEEEPEADHPQMGVSQQ -> GLISAVHALPV
FT ETWLFFVLWQTGALEVVYV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026609"
FT MUTAGEN 34
FT /note="Y->F: Loss of abiity to promote megakaryocyte
FT differentiation, enhance ERK and JNK signaling and up-
FT regulate the expression of FLI1."
FT /evidence="ECO:0000269|PubMed:24681962"
FT CONFLICT 82
FT /note="L -> P (in Ref. 2; BAC04811)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 131 AA; 14925 MW; BD60297F085B5C59 CRC64;
MDFQQLADVA EKWCSNTPFE LIATEETERR MDFYADPGVS FYVLCPDNGC GDNFHVWSES
EDCLPFLQLA QDYISSCGKK TLHEVLEKVF KSFRPLLGLP DADDDAFEEY SADVEEEEPE
ADHPQMGVSQ Q
