MB3L1_HUMAN
ID MB3L1_HUMAN Reviewed; 194 AA.
AC Q8WWY6; B5BUM6; Q2M291;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Methyl-CpG-binding domain protein 3-like 1;
DE Short=MBD3-like protein 1;
GN Name=MBD3L1; Synonyms=MBD3L;
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], FUNCTION, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND VARIANT CYS-190.
RX PubMed=12504854; DOI=10.1006/geno.2002.7001;
RA Jiang C.-L., Jin S.-G., Lee D.-H., Lan Z.-J., Xu X., O'Connor T.R.,
RA Szabo P.E., Mann J.R., Cooney A.J., Pfeifer G.P.;
RT "MBD3L1 and MBD3L2, two new proteins homologous to the methyl-CpG-binding
RT proteins MBD2 and MBD3: characterization of MBD3L1 as a testis-specific
RT transcriptional repressor.";
RL Genomics 80:621-629(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT CYS-190.
RX PubMed=19054851; DOI=10.1038/nmeth.1273;
RA Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R.,
RA Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y.,
RA Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B.,
RA Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H., Maruyama Y.,
RA Matsuo K., Minami K., Mitsubori M., Mori M., Morishita R., Murase A.,
RA Nishikawa A., Nishikawa S., Okamoto T., Sakagami N., Sakamoto Y.,
RA Sasaki Y., Seki T., Sono S., Sugiyama A., Sumiya T., Takayama T.,
RA Takayama Y., Takeda H., Togashi T., Yahata K., Yamada H., Yanagisawa Y.,
RA Endo Y., Imamoto F., Kisu Y., Tanaka S., Isogai T., Imai J., Watanabe S.,
RA Nomura N.;
RT "Human protein factory for converting the transcriptome into an in vitro-
RT expressed proteome.";
RL Nat. Methods 5:1011-1017(2008).
RN [3]
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., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT CYS-190.
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: Transcriptional repressor. {ECO:0000269|PubMed:12504854}.
CC -!- INTERACTION:
CC Q8WWY6; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-12516603, EBI-11954519;
CC Q8WWY6; A0A087WZT3: BOLA2B; NbExp=3; IntAct=EBI-12516603, EBI-12006120;
CC Q8WWY6; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-12516603, EBI-8643161;
CC Q8WWY6; Q96LT6: C1orf74; NbExp=3; IntAct=EBI-12516603, EBI-12049899;
CC Q8WWY6; P51800-3: CLCNKA; NbExp=3; IntAct=EBI-12516603, EBI-11980535;
CC Q8WWY6; O95833: CLIC3; NbExp=3; IntAct=EBI-12516603, EBI-10192241;
CC Q8WWY6; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-12516603, EBI-11962928;
CC Q8WWY6; Q86UW9: DTX2; NbExp=3; IntAct=EBI-12516603, EBI-740376;
CC Q8WWY6; Q5JVL4: EFHC1; NbExp=3; IntAct=EBI-12516603, EBI-743105;
CC Q8WWY6; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-12516603, EBI-742102;
CC Q8WWY6; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-12516603, EBI-11986315;
CC Q8WWY6; Q14192: FHL2; NbExp=3; IntAct=EBI-12516603, EBI-701903;
CC Q8WWY6; Q53EP0-3: FNDC3B; NbExp=3; IntAct=EBI-12516603, EBI-10242151;
CC Q8WWY6; O43559: FRS3; NbExp=3; IntAct=EBI-12516603, EBI-725515;
CC Q8WWY6; Q86YP4: GATAD2A; NbExp=3; IntAct=EBI-12516603, EBI-726224;
CC Q8WWY6; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-12516603, EBI-347538;
CC Q8WWY6; Q9UHL9: GTF2IRD1; NbExp=3; IntAct=EBI-12516603, EBI-372530;
CC Q8WWY6; Q969Y2: GTPBP3; NbExp=3; IntAct=EBI-12516603, EBI-740290;
CC Q8WWY6; Q14005-2: IL16; NbExp=3; IntAct=EBI-12516603, EBI-17178971;
CC Q8WWY6; Q7L273: KCTD9; NbExp=3; IntAct=EBI-12516603, EBI-4397613;
CC Q8WWY6; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-12516603, EBI-14069005;
CC Q8WWY6; P25800: LMO1; NbExp=3; IntAct=EBI-12516603, EBI-8639312;
CC Q8WWY6; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-12516603, EBI-11742507;
CC Q8WWY6; Q9UI95: MAD2L2; NbExp=3; IntAct=EBI-12516603, EBI-77889;
CC Q8WWY6; P40692: MLH1; NbExp=3; IntAct=EBI-12516603, EBI-744248;
CC Q8WWY6; Q15777: MPPED2; NbExp=3; IntAct=EBI-12516603, EBI-2350461;
CC Q8WWY6; Q9BU61: NDUFAF3; NbExp=3; IntAct=EBI-12516603, EBI-2114801;
CC Q8WWY6; Q9HC98-4: NEK6; NbExp=5; IntAct=EBI-12516603, EBI-11750983;
CC Q8WWY6; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-12516603, EBI-398874;
CC Q8WWY6; Q9H788: SH2D4A; NbExp=3; IntAct=EBI-12516603, EBI-747035;
CC Q8WWY6; O75971-2: SNAPC5; NbExp=3; IntAct=EBI-12516603, EBI-12004298;
CC Q8WWY6; P14678-2: SNRPB; NbExp=3; IntAct=EBI-12516603, EBI-372475;
CC Q8WWY6; O75558: STX11; NbExp=3; IntAct=EBI-12516603, EBI-714135;
CC Q8WWY6; P51687: SUOX; NbExp=3; IntAct=EBI-12516603, EBI-3921347;
CC Q8WWY6; P0DI81-3: TRAPPC2; NbExp=3; IntAct=EBI-12516603, EBI-11961968;
CC Q8WWY6; Q9BZW7: TSGA10; NbExp=3; IntAct=EBI-12516603, EBI-744794;
CC Q8WWY6; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-12516603, EBI-10241197;
CC Q8WWY6; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-12516603, EBI-3918381;
CC Q8WWY6; Q9BZL1: UBL5; NbExp=3; IntAct=EBI-12516603, EBI-607755;
CC Q8WWY6; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-12516603, EBI-14096082;
CC Q8WWY6; P36508: ZNF76; NbExp=3; IntAct=EBI-12516603, EBI-7254550;
CC Q8WWY6; Q15935: ZNF77; NbExp=3; IntAct=EBI-12516603, EBI-12840750;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12504854}.
CC Note=Nuclear, in large foci.
CC -!- TISSUE SPECIFICITY: Highly expressed in testis. Detected at low levels
CC in pancreas. Not detected in the other tissues tested.
CC {ECO:0000269|PubMed:12504854}.
CC -!- DOMAIN: The N-terminal half of the protein mediates transcription
CC repression.
CC -!- MISCELLANEOUS: Does not bind methylated DNA.
CC -!- MISCELLANEOUS: The MBD3L proteins are encoded by strongly repeated
CC regions of the 19p13 chromosome. The exact number of functional copies
CC is unclear, and some of them may represent pseudogenes.
CC -!- SIMILARITY: Belongs to the MBD3L family. {ECO:0000305}.
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DR EMBL; AY038022; AAK72591.1; -; mRNA.
DR EMBL; AB451462; BAG70276.1; -; mRNA.
DR EMBL; AC008734; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC112064; AAI12065.1; -; mRNA.
DR EMBL; BC112058; AAI12059.1; -; mRNA.
DR CCDS; CCDS12209.1; -.
DR RefSeq; NP_660209.2; NM_145208.2.
DR AlphaFoldDB; Q8WWY6; -.
DR SMR; Q8WWY6; -.
DR BioGRID; 124569; 69.
DR IntAct; Q8WWY6; 60.
DR STRING; 9606.ENSP00000471575; -.
DR iPTMnet; Q8WWY6; -.
DR PhosphoSitePlus; Q8WWY6; -.
DR BioMuta; MBD3L1; -.
DR DMDM; 296436435; -.
DR MassIVE; Q8WWY6; -.
DR PaxDb; Q8WWY6; -.
DR PeptideAtlas; Q8WWY6; -.
DR PRIDE; Q8WWY6; -.
DR Antibodypedia; 24961; 117 antibodies from 18 providers.
DR DNASU; 85509; -.
DR Ensembl; ENST00000305625.2; ENSP00000304198.2; ENSG00000170948.4.
DR Ensembl; ENST00000595891.2; ENSP00000471575.1; ENSG00000170948.4.
DR GeneID; 85509; -.
DR KEGG; hsa:85509; -.
DR MANE-Select; ENST00000595891.2; ENSP00000471575.1; NM_001393532.1; NP_001380461.1.
DR UCSC; uc002mko.2; human.
DR CTD; 85509; -.
DR DisGeNET; 85509; -.
DR GeneCards; MBD3L1; -.
DR HGNC; HGNC:15774; MBD3L1.
DR HPA; ENSG00000170948; Tissue enriched (testis).
DR MIM; 607963; gene.
DR neXtProt; NX_Q8WWY6; -.
DR OpenTargets; ENSG00000170948; -.
DR PharmGKB; PA30662; -.
DR VEuPathDB; HostDB:ENSG00000170948; -.
DR eggNOG; KOG4161; Eukaryota.
DR GeneTree; ENSGT00950000183005; -.
DR HOGENOM; CLU_069710_1_0_1; -.
DR InParanoid; Q8WWY6; -.
DR OMA; QQVCWQK; -.
DR OrthoDB; 1431783at2759; -.
DR PhylomeDB; Q8WWY6; -.
DR TreeFam; TF325032; -.
DR PathwayCommons; Q8WWY6; -.
DR SignaLink; Q8WWY6; -.
DR BioGRID-ORCS; 85509; 13 hits in 1075 CRISPR screens.
DR GenomeRNAi; 85509; -.
DR Pharos; Q8WWY6; Tbio.
DR PRO; PR:Q8WWY6; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8WWY6; protein.
DR Bgee; ENSG00000170948; Expressed in left testis and 36 other tissues.
DR Genevisible; Q8WWY6; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR032343; MBD2/MBD3_p55-bd.
DR InterPro; IPR025884; MeCpG-bd_2/3_C_dom.
DR Pfam; PF14048; MBD_C; 1.
DR Pfam; PF16564; MBDa; 1.
PE 1: Evidence at protein level;
KW Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..194
FT /note="Methyl-CpG-binding domain protein 3-like 1"
FT /id="PRO_0000096251"
FT REGION 1..104
FT /note="Transcription repressor"
FT VARIANT 190
FT /note="R -> C (in dbSNP:rs2972588)"
FT /evidence="ECO:0000269|PubMed:12504854,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19054851"
FT /id="VAR_051155"
SQ SEQUENCE 194 AA; 21616 MW; F9EC132573A45DC9 CRC64;
MAKSSQRKQR DCVNQCKSKP GLSTSIPLRM SSYTFKRPVT RITPHPGNEV RYHQWEESLE
KPQQVCWQRR LQGLQAYSSA GELSSTLDLA NTLQKLVPSY TGGSLLEDLA SGLEHSCPMP
HLACSSDAVE IIPAEGVGIS QLLCKQFLVT EEDIRKQEGK VKTVRERLAI ALIADGLANE
AEKVRDQEGR PEKR
