ERMIN_HUMAN
ID ERMIN_HUMAN Reviewed; 284 AA.
AC Q8TAM6; B4DKA6; Q9ULN1;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Ermin;
DE AltName: Full=Juxtanodin;
DE Short=JN;
GN Name=ERMN; Synonyms=KIAA1189;
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 1).
RC TISSUE=Brain;
RX PubMed=16421295; DOI=10.1523/jneurosci.4317-05.2006;
RA Brockschnieder D., Sabanay H., Riethmacher D., Peles E.;
RT "Ermin, a myelinating oligodendrocyte-specific protein that regulates cell
RT morphology.";
RL J. Neurosci. 26:757-762(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis from
RT size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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., 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Plays a role in cytoskeletal rearrangements during the late
CC wrapping and/or compaction phases of myelinogenesis as well as in
CC maintenance and stability of myelin sheath in the adult. May play an
CC important role in late-stage oligodendroglia maturation, myelin/Ranvier
CC node formation during CNS development, and in the maintenance and
CC plasticity of related structures in the mature CNS (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Binds actin. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8TAM6; Q8WWV3: RTN4IP1; NbExp=3; IntAct=EBI-2681068, EBI-743502;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TAM6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TAM6-2; Sequence=VSP_036982;
CC -!- TISSUE SPECIFICITY: Highly expressed in adult and fetal brain.
CC Expressed at intermediate levels in the lung and liver.
CC {ECO:0000269|PubMed:10574461}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA86503.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; DQ334271; ABC67251.1; -; mRNA.
DR EMBL; AB033015; BAA86503.1; ALT_INIT; mRNA.
DR EMBL; AK296477; BAG59118.1; -; mRNA.
DR EMBL; AC016732; AAY14889.1; -; Genomic_DNA.
DR EMBL; CH471058; EAX11448.1; -; Genomic_DNA.
DR EMBL; BC026345; AAH26345.1; -; mRNA.
DR CCDS; CCDS42764.1; -. [Q8TAM6-2]
DR CCDS; CCDS46431.1; -. [Q8TAM6-1]
DR RefSeq; NP_001009959.1; NM_001009959.2. [Q8TAM6-2]
DR RefSeq; NP_001291273.1; NM_001304344.1. [Q8TAM6-1]
DR RefSeq; NP_001291274.1; NM_001304345.1. [Q8TAM6-1]
DR RefSeq; NP_001291275.1; NM_001304346.1.
DR RefSeq; NP_065762.1; NM_020711.2. [Q8TAM6-1]
DR AlphaFoldDB; Q8TAM6; -.
DR SMR; Q8TAM6; -.
DR BioGRID; 121541; 24.
DR IntAct; Q8TAM6; 2.
DR STRING; 9606.ENSP00000380453; -.
DR iPTMnet; Q8TAM6; -.
DR PhosphoSitePlus; Q8TAM6; -.
DR BioMuta; ERMN; -.
DR DMDM; 74730370; -.
DR EPD; Q8TAM6; -.
DR jPOST; Q8TAM6; -.
DR MassIVE; Q8TAM6; -.
DR PaxDb; Q8TAM6; -.
DR PeptideAtlas; Q8TAM6; -.
DR PRIDE; Q8TAM6; -.
DR ProteomicsDB; 73898; -. [Q8TAM6-1]
DR ProteomicsDB; 73899; -. [Q8TAM6-2]
DR Antibodypedia; 33703; 115 antibodies from 22 providers.
DR DNASU; 57471; -.
DR Ensembl; ENST00000397283.6; ENSP00000380453.2; ENSG00000136541.15. [Q8TAM6-2]
DR Ensembl; ENST00000410096.6; ENSP00000387047.1; ENSG00000136541.15. [Q8TAM6-1]
DR GeneID; 57471; -.
DR KEGG; hsa:57471; -.
DR MANE-Select; ENST00000410096.6; ENSP00000387047.1; NM_020711.3; NP_065762.1.
DR UCSC; uc002tzh.4; human. [Q8TAM6-1]
DR CTD; 57471; -.
DR DisGeNET; 57471; -.
DR GeneCards; ERMN; -.
DR HGNC; HGNC:29208; ERMN.
DR HPA; ENSG00000136541; Group enriched (brain, choroid plexus).
DR MIM; 610072; gene.
DR neXtProt; NX_Q8TAM6; -.
DR OpenTargets; ENSG00000136541; -.
DR PharmGKB; PA162385355; -.
DR VEuPathDB; HostDB:ENSG00000136541; -.
DR eggNOG; KOG2030; Eukaryota.
DR GeneTree; ENSGT00960000186596; -.
DR HOGENOM; CLU_090355_0_0_1; -.
DR InParanoid; Q8TAM6; -.
DR OMA; WDEEINN; -.
DR OrthoDB; 1204148at2759; -.
DR PhylomeDB; Q8TAM6; -.
DR TreeFam; TF337225; -.
DR PathwayCommons; Q8TAM6; -.
DR SignaLink; Q8TAM6; -.
DR BioGRID-ORCS; 57471; 12 hits in 1062 CRISPR screens.
DR ChiTaRS; ERMN; human.
DR GenomeRNAi; 57471; -.
DR Pharos; Q8TAM6; Tbio.
DR PRO; PR:Q8TAM6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8TAM6; protein.
DR Bgee; ENSG00000136541; Expressed in corpus callosum and 115 other tissues.
DR ExpressionAtlas; Q8TAM6; baseline and differential.
DR Genevisible; Q8TAM6; HS.
DR GO; GO:0005938; C:cell cortex; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0030175; C:filopodium; IBA:GO_Central.
DR GO; GO:0097386; C:glial cell projection; IEA:Ensembl.
DR GO; GO:0033269; C:internode region of axon; IDA:UniProtKB.
DR GO; GO:0043209; C:myelin sheath; IBA:GO_Central.
DR GO; GO:0043025; C:neuronal cell body; IBA:GO_Central.
DR GO; GO:0033270; C:paranode region of axon; IDA:UniProtKB.
DR GO; GO:0051015; F:actin filament binding; IBA:GO_Central.
DR GO; GO:0007015; P:actin filament organization; IDA:UniProtKB.
DR GO; GO:0001763; P:morphogenesis of a branching structure; IBA:GO_Central.
DR GO; GO:0031344; P:regulation of cell projection organization; IDA:UniProtKB.
DR GO; GO:0008360; P:regulation of cell shape; IDA:UniProtKB.
DR Gene3D; 6.10.360.10; -; 1.
DR InterPro; IPR045346; Ermin.
DR InterPro; IPR008954; Moesin_tail_sf.
DR PANTHER; PTHR47137; PTHR47137; 1.
DR SUPFAM; SSF48678; SSF48678; 1.
PE 1: Evidence at protein level;
KW Actin-binding; Alternative splicing; Cytoplasm; Cytoskeleton;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..284
FT /note="Ermin"
FT /id="PRO_0000314748"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 110..251
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 265..284
FT /note="Binds actin"
FT /evidence="ECO:0000250"
FT COMPBIAS 126..154
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 182..198
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 199..224
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 225..241
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 73
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5RJL0"
FT MOD_RES 214
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5EBJ4"
FT MOD_RES 226
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5EBJ4"
FT MOD_RES 230
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5EBJ4"
FT MOD_RES 233
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5EBJ4"
FT MOD_RES 237
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q5EBJ4"
FT VAR_SEQ 1
FT /note="M -> MKTLSPDRIQPHIM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036982"
SQ SEQUENCE 284 AA; 32783 MW; 7A0589BED3682BED CRC64;
MTDVPATFTQ AECNGDKPPE NGQQTITKIS EELTDVDSPL PHYRVEPSLE GALTKGSQEE
RRKLQGNMLL NSSMEDKMLK ENPEEKLFIV HKAITDLSLQ ETSADEMTFR EGHQWEKIPL
SGSNQEIRRQ KERITEQPLK EEEDEDRKNK GHQAAEIEWL GFRKPSQADM LHSKHDEEQK
VWDEEIDDDD DDNCNNDEDE VRVIEFKKKH EEVSQFKEEG DASEDSPLSS ASSQAVTPDE
QPTLGKKSDI SRNAYSRYNT ISYRKIRKGN TKQRIDEFES MMHL
