RMXL2_HUMAN
ID RMXL2_HUMAN Reviewed; 392 AA.
AC O75526; Q6PEZ2; Q9NQU0;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 3.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=RNA-binding motif protein, X-linked-like-2;
DE AltName: Full=Testis-specific heterogeneous nuclear ribonucleoprotein G-T;
DE Short=hnRNP G-T;
GN Name=RBMXL2; Synonyms=HNRNPGT;
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], AND VARIANT ALA-134.
RC TISSUE=Testis;
RA Newton C.S., Venables J.P., Eperon I.C.;
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PHE-15; ALA-134 AND
RP CYS-308.
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 7-392, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND VARIANTS VAL-66 AND ALA-134.
RX PubMed=10958650; DOI=10.1093/hmg/9.14.2117;
RA Elliott D.J., Venables J.P., Newton C.S., Lawson D., Boyle S., Eperon I.C.,
RA Cooke H.J.;
RT "An evolutionarily conserved germ cell-specific hnRNP is encoded by a
RT retrotransposed gene.";
RL Hum. Mol. Genet. 9:2117-2124(2000).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10958650}.
CC -!- TISSUE SPECIFICITY: Expressed predominantly in spermatocytes and less
CC in round spermatids (at protein level). Expressed in germ cells.
CC {ECO:0000269|PubMed:10958650}.
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DR EMBL; AF069682; AAC24858.2; -; mRNA.
DR EMBL; AC100875; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC057796; AAH57796.1; -; mRNA.
DR EMBL; AF279289; AAF82129.1; -; Genomic_DNA.
DR CCDS; CCDS7777.1; -.
DR RefSeq; NP_055284.3; NM_014469.4.
DR AlphaFoldDB; O75526; -.
DR SMR; O75526; -.
DR BioGRID; 118112; 47.
DR IntAct; O75526; 26.
DR MINT; O75526; -.
DR STRING; 9606.ENSP00000304139; -.
DR iPTMnet; O75526; -.
DR MetOSite; O75526; -.
DR PhosphoSitePlus; O75526; -.
DR BioMuta; RBMXL2; -.
DR EPD; O75526; -.
DR jPOST; O75526; -.
DR MassIVE; O75526; -.
DR MaxQB; O75526; -.
DR PaxDb; O75526; -.
DR PeptideAtlas; O75526; -.
DR PRIDE; O75526; -.
DR ProteomicsDB; 50063; -.
DR Antibodypedia; 23993; 67 antibodies from 18 providers.
DR DNASU; 27288; -.
DR Ensembl; ENST00000306904.7; ENSP00000304139.5; ENSG00000170748.7.
DR GeneID; 27288; -.
DR KEGG; hsa:27288; -.
DR MANE-Select; ENST00000306904.7; ENSP00000304139.5; NM_014469.5; NP_055284.3.
DR UCSC; uc001mfc.3; human.
DR CTD; 27288; -.
DR DisGeNET; 27288; -.
DR GeneCards; RBMXL2; -.
DR HGNC; HGNC:17886; RBMXL2.
DR HPA; ENSG00000170748; Tissue enriched (testis).
DR MIM; 605444; gene.
DR neXtProt; NX_O75526; -.
DR OpenTargets; ENSG00000170748; -.
DR PharmGKB; PA162400840; -.
DR VEuPathDB; HostDB:ENSG00000170748; -.
DR eggNOG; ENOG502SBHG; Eukaryota.
DR GeneTree; ENSGT00940000162929; -.
DR HOGENOM; CLU_042286_0_0_1; -.
DR InParanoid; O75526; -.
DR OMA; SARDECP; -.
DR OrthoDB; 1248417at2759; -.
DR PhylomeDB; O75526; -.
DR TreeFam; TF331833; -.
DR PathwayCommons; O75526; -.
DR SignaLink; O75526; -.
DR BioGRID-ORCS; 27288; 11 hits in 1065 CRISPR screens.
DR GenomeRNAi; 27288; -.
DR Pharos; O75526; Tbio.
DR PRO; PR:O75526; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; O75526; protein.
DR Bgee; ENSG00000170748; Expressed in sperm and 24 other tissues.
DR Genevisible; O75526; HS.
DR GO; GO:0005689; C:U12-type spliceosomal complex; IBA:GO_Central.
DR GO; GO:0003729; F:mRNA binding; IBA:GO_Central.
DR GO; GO:0017069; F:snRNA binding; IBA:GO_Central.
DR GO; GO:0000398; P:mRNA splicing, via spliceosome; IBA:GO_Central.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR012604; RBM1CTR.
DR InterPro; IPR000504; RRM_dom.
DR InterPro; IPR003954; RRM_dom_euk.
DR Pfam; PF08081; RBM1CTR; 1.
DR Pfam; PF00076; RRM_1; 1.
DR SMART; SM00360; RRM; 1.
DR SMART; SM00361; RRM_1; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW Nucleus; Reference proteome; Ribonucleoprotein; RNA-binding.
FT CHAIN 1..392
FT /note="RNA-binding motif protein, X-linked-like-2"
FT /id="PRO_0000281737"
FT DOMAIN 8..86
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 67..392
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 146..166
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 197..225
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 242..286
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 334..349
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 15
FT /note="L -> F (in dbSNP:rs17857474)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_055334"
FT VARIANT 66
FT /note="A -> V (in dbSNP:rs11041170)"
FT /evidence="ECO:0000269|PubMed:10958650"
FT /id="VAR_061833"
FT VARIANT 134
FT /note="T -> A (in dbSNP:rs11041171)"
FT /evidence="ECO:0000269|PubMed:10958650,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_055335"
FT VARIANT 308
FT /note="Y -> C (in dbSNP:rs17854944)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_055336"
SQ SEQUENCE 392 AA; 42814 MW; CE7B79EF3C64197B CRC64;
MVEADRPGKL FIGGLNLETD EKALEAEFGK YGRIVEVLLM KDRETNKSRG FAFVTFESPA
DAKAAARDMN GKSLDGKAIK VAQATKPAFE SSRRGPPPPR SRGRPRFLRG TRGGGGGPRR
SPSRGGPDDD GGYTADFDLR PSRAPMPMKR GPPPRRVGPP PKRAAPSGPA RSSGGGMRGR
ALAVRGRDGY SGPPRREPLP PRRDPYLGPR DEGYSSRDGY SSRDYREPRG FAPSPGEYTH
RDYGHSSVRD DCPLRGYSDR DGYGGRDRDY GDHLSRGSHR EPFESYGELR GAAPGRGTPP
SYGGGGRYEE YRGYSPDAYS GGRDSYSSSY GRSDRYSRGR HRVGRPDRGL SLSMERGCPP
QRDSYSRSGC RVPRGGGRLG GRLERGGGRS RY
