MRFL_HUMAN
ID MRFL_HUMAN Reviewed; 910 AA.
AC Q96LU7;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 06-FEB-2013, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Myelin regulatory factor-like protein;
GN Name=MYRFL; Synonyms=C12orf15, C12orf28;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 564-910, AND VARIANT MET-845.
RC TISSUE=Cerebellum;
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] OF 619-910, AND VARIANT MET-845.
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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the MRF family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71571.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC025263; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC078922; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK057785; BAB71571.1; ALT_INIT; mRNA.
DR EMBL; BC101820; AAI01821.2; -; mRNA.
DR CCDS; CCDS76577.1; -.
DR RefSeq; NP_872336.2; NM_182530.2.
DR AlphaFoldDB; Q96LU7; -.
DR SMR; Q96LU7; -.
DR STRING; 9606.ENSP00000440626; -.
DR iPTMnet; Q96LU7; -.
DR PhosphoSitePlus; Q96LU7; -.
DR BioMuta; MYRFL; -.
DR DMDM; 449081266; -.
DR jPOST; Q96LU7; -.
DR MassIVE; Q96LU7; -.
DR PaxDb; Q96LU7; -.
DR PeptideAtlas; Q96LU7; -.
DR PRIDE; Q96LU7; -.
DR ProteomicsDB; 77252; -.
DR Antibodypedia; 62193; 5 antibodies from 5 providers.
DR DNASU; 196446; -.
DR Ensembl; ENST00000552032.7; ENSP00000448753.2; ENSG00000166268.11.
DR GeneID; 196446; -.
DR KEGG; hsa:196446; -.
DR MANE-Select; ENST00000552032.7; ENSP00000448753.2; NM_182530.3; NP_872336.2.
DR UCSC; uc001svu.2; human.
DR CTD; 196446; -.
DR DisGeNET; 196446; -.
DR GeneCards; MYRFL; -.
DR HGNC; HGNC:26316; MYRFL.
DR HPA; ENSG00000166268; Tissue enriched (intestine).
DR neXtProt; NX_Q96LU7; -.
DR OpenTargets; ENSG00000166268; -.
DR VEuPathDB; HostDB:ENSG00000166268; -.
DR eggNOG; KOG3661; Eukaryota.
DR GeneTree; ENSGT00530000063626; -.
DR HOGENOM; CLU_004919_1_0_1; -.
DR InParanoid; Q96LU7; -.
DR OMA; CHNPGAS; -.
DR OrthoDB; 311898at2759; -.
DR PhylomeDB; Q96LU7; -.
DR PathwayCommons; Q96LU7; -.
DR SignaLink; Q96LU7; -.
DR BioGRID-ORCS; 196446; 1 hit in 151 CRISPR screens.
DR ChiTaRS; MYRFL; human.
DR GenomeRNAi; 196446; -.
DR Pharos; Q96LU7; Tdark.
DR PRO; PR:Q96LU7; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96LU7; protein.
DR Bgee; ENSG00000166268; Expressed in jejunal mucosa and 104 other tissues.
DR ExpressionAtlas; Q96LU7; baseline and differential.
DR Genevisible; Q96LU7; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0016540; P:protein autoprocessing; IBA:GO_Central.
DR Gene3D; 2.60.40.1390; -; 1.
DR InterPro; IPR025719; MYRF_C2.
DR InterPro; IPR026932; MYRF_ICA.
DR InterPro; IPR024061; NDT80_DNA-bd_dom.
DR InterPro; IPR037141; NDT80_DNA-bd_dom_sf.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR030392; S74_ICA.
DR Pfam; PF13888; MRF_C2; 1.
DR Pfam; PF13887; MYRF_ICA; 1.
DR Pfam; PF05224; NDT80_PhoG; 1.
DR Pfam; PF13884; Peptidase_S74; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS51688; ICA; 1.
DR PROSITE; PS51517; NDT80; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; DNA-binding; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..910
FT /note="Myelin regulatory factor-like protein"
FT /id="PRO_0000252150"
FT TRANSMEM 628..648
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 451..559
FT /note="Peptidase S74"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01025"
FT DNA_BIND 142..405
FT /note="NDT80"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00850"
FT REGION 189..208
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 661..682
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 543..575
FT /evidence="ECO:0000255"
FT VARIANT 723
FT /note="S -> L (in dbSNP:rs35051828)"
FT /id="VAR_033742"
FT VARIANT 753
FT /note="A -> S (in dbSNP:rs11177991)"
FT /id="VAR_027780"
FT VARIANT 845
FT /note="L -> M (in dbSNP:rs10879065)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_069018"
SQ SEQUENCE 910 AA; 101670 MW; 18444DB071F0B57E CRC64;
MDVVGENEAL QQFFEAQGAN GTLENPALDT SLLEEFLGND FDLGALQRQL PDTPPYSASD
SCSPPQVKGA CYPTLRPTAG RTPAPFLHPT AAPAMPPMHP LQSTSGMGDS CQIHGGFHSC
HSNASHLATP LDQSVSSHLG IGCSYPQQPL CHSPGASLPP TKKRKCTQAL EDSGECRVWA
CHCRPMTSRS RSSEVQDPDS EGQNRMPTDQ CSPALKWQPC HSVPWHSLLN SHYEKLPDVG
YRVVTDKGFN FSPADEAFVC QKKNHFQITI HIQVWGSPKF VETEMGLKPI EMFYLKVFGT
KVEATNQIIA IEQSQADRSK KIFNPVKIDL LADQVTKVTL GRLHFSETTA NNMRKKGKPN
PDQRYFMLVV GLYAANQDQF YLLSAHISER IIVRASNPGQ FENDSDALWQ RGQVPESIVC
HGRVGINTDA PDEALVVCGN MKVMGTIMHP SDSRAKQNIQ EVDTNEQLKR IAQMRIVEYD
YKPEFASAMG INTAHQTGMI AQEVQEILPR AVREVGDVTC GNGETLENFL MVDKDQIFME
NVGAVKQLCK LTNNLEERIE ELEIWNRKLA RLKRLSSWKS SASEASTISK SSRAVSASSP
RRAVHKKNNK VYFSGKRQAC PNWVFQTLVI TLIAVMAFCA LTIVALYILS LKDQDRRVPN
LPPSNITSSQ EPALLPTASS SAPNTSLVTT PASLQVPEIT FCEILPCQET YCCPIRGMKE
VSSSPVQRQS EEKEFHQRRW SEDKSKSVLA RNALSGPDWE SDWIDTTISS IQIMEIQQII
DHQYCIQSLQ CGSGNYNYNI PVNKHTPTNV KFSLEINTTE PLIVFQCKFT LGNICFHSKR
GTKGLESHRE ISQEMTQGYQ HIWSLPVAPF SDSMFHFRVA APDLADCSTD PYFAGIFFTD
YFFYFYRRCA
