NXF5_HUMAN
ID NXF5_HUMAN Reviewed; 397 AA.
AC Q9H1B4; A2RRM0; B1AV82; B1AV83; B1AV84; B1AV85; Q9H1B0; Q9H1B1; Q9H1B2;
AC Q9H1B3;
DT 15-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Nuclear RNA export factor 5;
DE AltName: Full=TAP-like protein 1;
DE Short=TAPL-1;
GN Name=NXF5; Synonyms=TAPL1;
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] (ISOFORMS A; B; C; D AND E), AND CHROMOSOMAL
RP INVERSION.
RC TISSUE=Fetal brain;
RX PubMed=11566096; DOI=10.1016/s0960-9822(01)00419-5;
RA Jun L., Frints S., Duhamel H., Herold A., Abad-Rodrigues J., Dotti C.,
RA Izaurralde E., Marynen P., Froyen G.;
RT "NXF5, a novel member of the nuclear RNA export factor family, is lost in a
RT male patient with a syndromic form of mental retardation.";
RL Curr. Biol. 11:1381-1391(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM F).
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 SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
RX PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
RA Hillman R.T., Green R.E., Brenner S.E.;
RT "An unappreciated role for RNA surveillance.";
RL Genome Biol. 5:R8.1-R8.16(2004).
CC -!- FUNCTION: Could be involved in the export of mRNA from the nucleus to
CC the cytoplasm. Could also have a role in polarized cytoplasmic
CC transport and localization of mRNA in neurons.
CC -!- SUBUNIT: Interacts with NXT1 and NXT2.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly localized in the
CC cytoplasm of cells and more particularly in the cell body and neurites
CC of hippocampal neurons. Although nuclear localization is also observed.
CC Not detected at nuclear rim.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Comment=Additional isoforms seem to exist.;
CC Name=A; Synonyms=TAPL-1a;
CC IsoId=Q9H1B4-1; Sequence=Displayed;
CC Name=B; Synonyms=TAPL-1b;
CC IsoId=Q9H1B4-2; Sequence=VSP_003734, VSP_003737;
CC Name=C; Synonyms=TAPL-1c;
CC IsoId=Q9H1B4-3; Sequence=VSP_003732, VSP_003733;
CC Name=D; Synonyms=TAPL-1d;
CC IsoId=Q9H1B4-4; Sequence=VSP_003731, VSP_003734, VSP_003737;
CC Name=E; Synonyms=TAPL-1e;
CC IsoId=Q9H1B4-5; Sequence=VSP_003731, VSP_003735, VSP_003736;
CC Name=F;
CC IsoId=Q9H1B4-6; Sequence=VSP_043896;
CC -!- DOMAIN: The NTF2 domain heterodimerizes with NXT1 and NXT2.
CC {ECO:0000250}.
CC -!- DOMAIN: The RNA-binding domain is a non-canonical RNP-type domain.
CC -!- DISEASE: Note=A chromosomal aberration involving NXF5 has been observed
CC in one patient with a syndromic form of intellectual disability and
CC short stature. Pericentric inversion inv(X)(p21.1;q22) that interrupts
CC NXF5. {ECO:0000269|PubMed:11566096}.
CC -!- MISCELLANEOUS: [Isoform A]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay.
CC -!- MISCELLANEOUS: [Isoform B]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform C]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform D]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform E]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the NXF family. {ECO:0000305}.
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DR EMBL; AJ277654; CAC20428.1; -; mRNA.
DR EMBL; AJ277655; CAC20429.1; -; mRNA.
DR EMBL; AJ277656; CAC20430.1; -; mRNA.
DR EMBL; AJ277657; CAC20431.1; -; mRNA.
DR EMBL; AJ277658; CAC20432.1; -; mRNA.
DR EMBL; AL672207; CAI42476.1; -; Genomic_DNA.
DR EMBL; Z70228; CAI42476.1; JOINED; Genomic_DNA.
DR EMBL; AL672207; CAI42478.1; -; Genomic_DNA.
DR EMBL; Z70228; CAI42478.1; JOINED; Genomic_DNA.
DR EMBL; AL672207; CAI42475.1; -; Genomic_DNA.
DR EMBL; Z70228; CAI42475.1; JOINED; Genomic_DNA.
DR EMBL; AL672207; CAI42477.1; -; Genomic_DNA.
DR EMBL; Z70228; CAI42477.1; JOINED; Genomic_DNA.
DR EMBL; BC131708; AAI31709.1; -; mRNA.
DR RefSeq; NP_116564.2; NM_032946.2. [Q9H1B4-6]
DR AlphaFoldDB; Q9H1B4; -.
DR SMR; Q9H1B4; -.
DR BioGRID; 121023; 24.
DR ComplexPortal; CPX-2433; mRNA nuclear export factor NXF5-NXT1.
DR ComplexPortal; CPX-2549; mRNA nuclear export factor NXF5-NXT2.
DR IntAct; Q9H1B4; 3.
DR STRING; 9606.ENSP00000426978; -.
DR iPTMnet; Q9H1B4; -.
DR PhosphoSitePlus; Q9H1B4; -.
DR BioMuta; NXF5; -.
DR DMDM; 20978537; -.
DR EPD; Q9H1B4; -.
DR MassIVE; Q9H1B4; -.
DR PaxDb; Q9H1B4; -.
DR PeptideAtlas; Q9H1B4; -.
DR PRIDE; Q9H1B4; -.
DR ProteomicsDB; 80387; -. [Q9H1B4-1]
DR ProteomicsDB; 80388; -. [Q9H1B4-2]
DR ProteomicsDB; 80389; -. [Q9H1B4-3]
DR ProteomicsDB; 80390; -. [Q9H1B4-4]
DR ProteomicsDB; 80391; -. [Q9H1B4-5]
DR ProteomicsDB; 80392; -. [Q9H1B4-6]
DR DNASU; 55998; -.
DR GeneID; 55998; -.
DR UCSC; uc004eih.2; human. [Q9H1B4-1]
DR CTD; 55998; -.
DR DisGeNET; 55998; -.
DR GeneCards; NXF5; -.
DR HGNC; HGNC:8075; NXF5.
DR MIM; 300319; gene.
DR neXtProt; NX_Q9H1B4; -.
DR PharmGKB; PA31862; -.
DR VEuPathDB; HostDB:ENSG00000126952; -.
DR eggNOG; KOG3763; Eukaryota.
DR HOGENOM; CLU_1585916_0_0_1; -.
DR InParanoid; Q9H1B4; -.
DR OMA; DSRNIKM; -.
DR OrthoDB; 1051093at2759; -.
DR PhylomeDB; Q9H1B4; -.
DR TreeFam; TF314566; -.
DR PathwayCommons; Q9H1B4; -.
DR SignaLink; Q9H1B4; -.
DR BioGRID-ORCS; 55998; 7 hits in 672 CRISPR screens.
DR GenomeRNAi; 55998; -.
DR Pharos; Q9H1B4; Tbio.
DR PRO; PR:Q9H1B4; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9H1B4; protein.
DR Genevisible; Q9H1B4; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; IDA:UniProtKB.
DR GO; GO:0006406; P:mRNA export from nucleus; IDA:UniProtKB.
DR GO; GO:0016973; P:poly(A)+ mRNA export from nucleus; IBA:GO_Central.
DR GO; GO:0050658; P:RNA transport; IDA:UniProtKB.
DR Gene3D; 3.30.70.330; -; 1.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR032710; NTF2-like_dom_sf.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR030217; NXF_fam.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR015245; Tap_RNA-bd.
DR PANTHER; PTHR10662; PTHR10662; 1.
DR Pfam; PF09162; Tap-RNA_bind; 1.
DR SUPFAM; SSF54427; SSF54427; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS51450; LRR; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Leucine-rich repeat; mRNA transport;
KW Nucleus; Reference proteome; Repeat; RNA-binding; Transport.
FT CHAIN 1..397
FT /note="Nuclear RNA export factor 5"
FT /id="PRO_0000220535"
FT DOMAIN 13..92
FT /note="RRM"
FT REPEAT 160..185
FT /note="LRR 1"
FT REPEAT 186..209
FT /note="LRR 2"
FT REPEAT 210..237
FT /note="LRR 3"
FT REPEAT 238..265
FT /note="LRR 4"
FT DOMAIN 280..367
FT /note="NTF2; truncated"
FT VAR_SEQ 18..80
FT /note="Missing (in isoform D and isoform E)"
FT /evidence="ECO:0000303|PubMed:11566096"
FT /id="VSP_003731"
FT VAR_SEQ 161..168
FT /note="LLSLNLCN -> RRLPKSRP (in isoform C)"
FT /evidence="ECO:0000303|PubMed:11566096"
FT /id="VSP_003732"
FT VAR_SEQ 169..397
FT /note="Missing (in isoform C)"
FT /evidence="ECO:0000303|PubMed:11566096"
FT /id="VSP_003733"
FT VAR_SEQ 361..397
FT /note="RWWCLLSLKWKDGLRVLILPSCGPSSLPLAAIPVCAS -> SLRPL (in
FT isoform F)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043896"
FT VAR_SEQ 361..368
FT /note="RWWCLLSL -> SGRMVSGF (in isoform B and isoform D)"
FT /evidence="ECO:0000303|PubMed:11566096"
FT /id="VSP_003734"
FT VAR_SEQ 363..365
FT /note="WCL -> VGG (in isoform E)"
FT /evidence="ECO:0000303|PubMed:11566096"
FT /id="VSP_003735"
FT VAR_SEQ 366..397
FT /note="Missing (in isoform E)"
FT /evidence="ECO:0000303|PubMed:11566096"
FT /id="VSP_003736"
FT VAR_SEQ 369..397
FT /note="Missing (in isoform D and isoform B)"
FT /evidence="ECO:0000303|PubMed:11566096"
FT /id="VSP_003737"
SQ SEQUENCE 397 AA; 45628 MW; 0D5E5EDCA850E3A6 CRC64;
MRRNTQDENM RKWFKVTIPY GIKYDKAWLM NSIQSNCSVP FTPVDFHYIR NRACFFVQVA
SAASALKDVS YKIYDDENQK ICIFVSHFTA PYSVKNKLKP GQMEMLKLTM NKRYNVSQQA
LDLQNLRFDP DLMGRDIDII LNRRNCMAAT LKITERNFPE LLSLNLCNNK LYQLDGLSDI
TEKAPKVKTL NLSKNKLESA WELGKVKGLK LEELWLEGNP LCSTFSDQSA YVSAIRDCFP
KLLRLDGREL SAPVIVDIDS SETMKPCKEN FTGSETLKHL VLQFLQQSNL CKYFKDSRNI
KILKDPYLQR KLLKHTKCPR NVDSLSALPE TQHDFTSILV DMWYQTVNTC FLPRAGPESQ
RWWCLLSLKW KDGLRVLILP SCGPSSLPLA AIPVCAS
