SLX4I_HUMAN
ID SLX4I_HUMAN Reviewed; 408 AA.
AC Q5VYV7; Q05CG2; Q05CT9;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Protein SLX4IP;
DE AltName: Full=SLX4-interacting protein;
GN Name=SLX4IP; Synonyms=C20orf94;
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=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Prostate;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [4]
RP INTERACTION WITH SLX4.
RX PubMed=19596235; DOI=10.1016/j.cell.2009.06.030;
RA Svendsen J.M., Smogorzewska A., Sowa M.E., O'Connell B.C., Gygi S.P.,
RA Elledge S.J., Harper J.W.;
RT "Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is
RT required for DNA repair.";
RL Cell 138:63-77(2009).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-130; SER-213 AND THR-392, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP CHROMOSOMAL REARRANGEMENT.
RX PubMed=24045615; DOI=10.1093/hmg/ddt447;
RA Meissner B., Bartram T., Eckert C., Trka J., Panzer-Gruemayer R.,
RA Hermanova I., Ellinghaus E., Franke A., Moericke A., Schrauder A.,
RA Teigler-Schlegel A., Doerge P., von Stackelberg A., Basso G., Bartram C.R.,
RA Kirschner-Schwabe R., Bornhaeuser B., Bourquin J.P., Cazzaniga G.,
RA Hauer J., Attarbaschi A., Izraeli S., Zaliova M., Cario G., Zimmermann M.,
RA Avigad S., Sokalska-Duhme M., Metzler M., Schrappe M., Koehler R.,
RA Te Kronnie G., Stanulla M.;
RT "Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated
RT recombination in childhood acute lymphoblastic leukemia.";
RL Hum. Mol. Genet. 23:590-601(2014).
RN [7]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-79; LYS-239; LYS-347 AND LYS-356,
RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25755297; DOI=10.1074/mcp.o114.044792;
RA Xiao Z., Chang J.G., Hendriks I.A., Sigurdsson J.O., Olsen J.V.,
RA Vertegaal A.C.;
RT "System-wide analysis of SUMOylation dynamics in response to replication
RT stress reveals novel small ubiquitin-like modified target proteins and
RT acceptor lysines relevant for genome stability.";
RL Mol. Cell. Proteomics 14:1419-1434(2015).
RN [8]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-61; LYS-79; LYS-167; LYS-176;
RP LYS-239; LYS-242; LYS-256; LYS-291; LYS-347; LYS-356; LYS-372 AND LYS-399,
RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- SUBUNIT: Interacts with SLX4/BTBD12; subunit of different structure-
CC specific endonucleases. {ECO:0000269|PubMed:19596235}.
CC -!- INTERACTION:
CC Q5VYV7; Q8IY92: SLX4; NbExp=4; IntAct=EBI-2370881, EBI-2370740;
CC -!- DISEASE: Note=Chromosomal aberrations involving SLX4IP are found in
CC acute lymphoblastic leukemia. A site-specific deletion within the 5'
CC region of SLX4IP is found in 30% of childhood acute lymphoblastic
CC leukemia in general and more than 60% of ETV6/RUNX1-rearranged acute
CC lymphoblastic leukemia. Breakpoints within SLX4IP reveal junctions with
CC typical characteristics of illegitimate V(D)J mediated recombination.
CC SLX4IP deletions are significantly associated with male gender and
CC ETV6/RUNX1-rearranged acute lymphoblastic leukemia.
CC {ECO:0000269|PubMed:24045615}.
CC -!- SIMILARITY: Belongs to the SLX4IP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH20787.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAH26094.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AL133340; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353599; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL035456; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC020787; AAH20787.1; ALT_SEQ; mRNA.
DR EMBL; BC026094; AAH26094.1; ALT_SEQ; mRNA.
DR CCDS; CCDS33439.1; -.
DR RefSeq; NP_001009608.1; NM_001009608.2.
DR AlphaFoldDB; Q5VYV7; -.
DR BioGRID; 126147; 50.
DR IntAct; Q5VYV7; 30.
DR STRING; 9606.ENSP00000335557; -.
DR iPTMnet; Q5VYV7; -.
DR PhosphoSitePlus; Q5VYV7; -.
DR BioMuta; SLX4IP; -.
DR DMDM; 74747720; -.
DR EPD; Q5VYV7; -.
DR jPOST; Q5VYV7; -.
DR MassIVE; Q5VYV7; -.
DR MaxQB; Q5VYV7; -.
DR PaxDb; Q5VYV7; -.
DR PeptideAtlas; Q5VYV7; -.
DR PRIDE; Q5VYV7; -.
DR ProteomicsDB; 65652; -.
DR Antibodypedia; 62780; 27 antibodies from 7 providers.
DR DNASU; 128710; -.
DR Ensembl; ENST00000334534.10; ENSP00000335557.5; ENSG00000149346.15.
DR GeneID; 128710; -.
DR KEGG; hsa:128710; -.
DR MANE-Select; ENST00000334534.10; ENSP00000335557.5; NM_001009608.3; NP_001009608.1.
DR UCSC; uc010zre.3; human.
DR CTD; 128710; -.
DR DisGeNET; 128710; -.
DR GeneCards; SLX4IP; -.
DR HGNC; HGNC:16225; SLX4IP.
DR HPA; ENSG00000149346; Low tissue specificity.
DR MIM; 615958; gene.
DR neXtProt; NX_Q5VYV7; -.
DR OpenTargets; ENSG00000149346; -.
DR PharmGKB; PA25801; -.
DR VEuPathDB; HostDB:ENSG00000149346; -.
DR eggNOG; ENOG502QQHZ; Eukaryota.
DR GeneTree; ENSGT00390000016400; -.
DR HOGENOM; CLU_039900_0_0_1; -.
DR InParanoid; Q5VYV7; -.
DR OMA; GIHLRCI; -.
DR OrthoDB; 575561at2759; -.
DR PhylomeDB; Q5VYV7; -.
DR TreeFam; TF330769; -.
DR PathwayCommons; Q5VYV7; -.
DR SignaLink; Q5VYV7; -.
DR BioGRID-ORCS; 128710; 11 hits in 1076 CRISPR screens.
DR ChiTaRS; SLX4IP; human.
DR GenomeRNAi; 128710; -.
DR Pharos; Q5VYV7; Tbio.
DR PRO; PR:Q5VYV7; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q5VYV7; protein.
DR Bgee; ENSG00000149346; Expressed in epithelial cell of pancreas and 187 other tissues.
DR ExpressionAtlas; Q5VYV7; baseline and differential.
DR Genevisible; Q5VYV7; HS.
DR InterPro; IPR031479; SLX4IP.
DR PANTHER; PTHR28557; PTHR28557; 1.
DR Pfam; PF15744; UPF0492; 1.
PE 1: Evidence at protein level;
KW Isopeptide bond; Phosphoprotein; Reference proteome; Ubl conjugation.
FT CHAIN 1..408
FT /note="Protein SLX4IP"
FT /id="PRO_0000306119"
FT REGION 173..226
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 243..313
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 365..408
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 176..196
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 206..220
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 271..296
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 297..313
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 367..394
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 130
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 213
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 392
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CROSSLNK 61
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 79
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:25755297,
FT ECO:0007744|PubMed:28112733"
FT CROSSLNK 167
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 176
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 239
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:25755297,
FT ECO:0007744|PubMed:28112733"
FT CROSSLNK 242
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 256
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 291
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 347
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:25755297,
FT ECO:0007744|PubMed:28112733"
FT CROSSLNK 356
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:25755297,
FT ECO:0007744|PubMed:28112733"
FT CROSSLNK 372
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 399
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VARIANT 317
FT /note="R -> Q (in dbSNP:rs6077853)"
FT /id="VAR_035277"
SQ SEQUENCE 408 AA; 45552 MW; 4CBC9DF90E3B14E9 CRC64;
MASKKFAVKC GNFAVLVDLH ILPQGSNKDT SWFSEQKKEE VCLLLKETID SRVQEYLEVR
KQHRPSNAEF TRSNPLSLKG YGFQITAYFL KRGIRLRCIR STQNAELCVF PDRFVVCVSQ
LAFSRDLLAS QNEDLTERVL HGVSDYFAEC AESSLPPSAK LRRNALKEIV KRTETKSSVT
SKSQTRRDTV ETSSDSVIAE IARRRNDGQA SSSPPSESMG QAKDSIKAAE SHWGLPVQKL
EKVNQTQPED TSGQQKPHPG ERLKTGLLSR SPVCSCESAS PCPKQSPRVA KTQQKRRNCS
SAEDFDHHGR VSLGSDRLVP REIIVEKSKA VRVLPASELS DPGLLLKQDL AKTTSKEELH
VLESLSSRHL MKNNPGQAQQ TGLATNTERL STIQNSPTKK RKKYERGH
