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Protein

Protein SLX4IP

Gene

SLX4IP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SLX4IP
Alternative name(s):
SLX4-interacting protein
Gene namesi
Name:SLX4IP
Synonyms:C20orf94
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16225. SLX4IP.

Pathology & Biotechi

Involvement in diseasei

Chromosomal aberrations involving SLX4IP are found in acute lymphoblastic leukemia. A site-specific deletion within the 5' region of SLX4IP is found in 30% of childhood acute lymphoblastic leukemia in general and more than 60% of ETV6/RUNX1-rearranged acute lymphoblastic leukemia. Breakpoints within SLX4IP reveal junctions with typical characteristics of illegitimate V(D)J mediated recombination. SLX4IP deletions are significantly associated with male gender and ETV6/RUNX1-rearranged acute lymphoblastic leukemia.

Organism-specific databases

PharmGKBiPA25801.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 408408Protein SLX4IPPRO_0000306119Add
BLAST

Proteomic databases

MaxQBiQ5VYV7.
PaxDbiQ5VYV7.
PRIDEiQ5VYV7.

PTM databases

PhosphoSiteiQ5VYV7.

Expressioni

Gene expression databases

BgeeiQ5VYV7.
CleanExiHS_C20orf94.
GenevestigatoriQ5VYV7.

Organism-specific databases

HPAiHPA046372.

Interactioni

Subunit structurei

Interacts with SLX4/BTBD12; subunit of different structure-specific endonucleases.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SLX4Q8IY924EBI-2370881,EBI-2370740

Protein-protein interaction databases

BioGridi126147. 20 interactions.
IntActiQ5VYV7. 19 interactions.
STRINGi9606.ENSP00000335557.

Structurei

3D structure databases

ProteinModelPortaliQ5VYV7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SLX4IP family.Curated

Phylogenomic databases

eggNOGiNOG40225.
GeneTreeiENSGT00390000016400.
HOGENOMiHOG000112024.
HOVERGENiHBG094893.
InParanoidiQ5VYV7.
OMAiPGPKQSP.
OrthoDBiEOG7B31MT.
PhylomeDBiQ5VYV7.
TreeFamiTF330769.

Sequencei

Sequence statusi: Complete.

Q5VYV7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASKKFAVKC GNFAVLVDLH ILPQGSNKDT SWFSEQKKEE VCLLLKETID
60 70 80 90 100
SRVQEYLEVR KQHRPSNAEF TRSNPLSLKG YGFQITAYFL KRGIRLRCIR
110 120 130 140 150
STQNAELCVF PDRFVVCVSQ LAFSRDLLAS QNEDLTERVL HGVSDYFAEC
160 170 180 190 200
AESSLPPSAK LRRNALKEIV KRTETKSSVT SKSQTRRDTV ETSSDSVIAE
210 220 230 240 250
IARRRNDGQA SSSPPSESMG QAKDSIKAAE SHWGLPVQKL EKVNQTQPED
260 270 280 290 300
TSGQQKPHPG ERLKTGLLSR SPVCSCESAS PCPKQSPRVA KTQQKRRNCS
310 320 330 340 350
SAEDFDHHGR VSLGSDRLVP REIIVEKSKA VRVLPASELS DPGLLLKQDL
360 370 380 390 400
AKTTSKEELH VLESLSSRHL MKNNPGQAQQ TGLATNTERL STIQNSPTKK

RKKYERGH
Length:408
Mass (Da):45,552
Last modified:December 7, 2004 - v1
Checksum:i4CBC9DF90E3B14E9
GO

Sequence cautioni

The sequence AAH20787.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH26094.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti317 – 3171R → Q.
Corresponds to variant rs6077853 [ dbSNP | Ensembl ].
VAR_035277

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL133340, AL035456, AL353599 Genomic DNA. Translation: CAH71244.1.
AL353599, AL035456, AL133340 Genomic DNA. Translation: CAH71745.1.
AL035456, AL133340, AL353599 Genomic DNA. Translation: CAI42184.1.
BC020787 mRNA. Translation: AAH20787.1. Sequence problems.
BC026094 mRNA. Translation: AAH26094.1. Sequence problems.
CCDSiCCDS33439.1.
RefSeqiNP_001009608.1. NM_001009608.1.
UniGeneiHs.668782.

Genome annotation databases

EnsembliENST00000334534; ENSP00000335557; ENSG00000149346.
GeneIDi128710.
KEGGihsa:128710.
UCSCiuc010zre.2. human.

Polymorphism databases

DMDMi74747720.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL133340, AL035456, AL353599 Genomic DNA. Translation: CAH71244.1.
AL353599, AL035456, AL133340 Genomic DNA. Translation: CAH71745.1.
AL035456, AL133340, AL353599 Genomic DNA. Translation: CAI42184.1.
BC020787 mRNA. Translation: AAH20787.1. Sequence problems.
BC026094 mRNA. Translation: AAH26094.1. Sequence problems.
CCDSiCCDS33439.1.
RefSeqiNP_001009608.1. NM_001009608.1.
UniGeneiHs.668782.

3D structure databases

ProteinModelPortaliQ5VYV7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126147. 20 interactions.
IntActiQ5VYV7. 19 interactions.
STRINGi9606.ENSP00000335557.

PTM databases

PhosphoSiteiQ5VYV7.

Polymorphism databases

DMDMi74747720.

Proteomic databases

MaxQBiQ5VYV7.
PaxDbiQ5VYV7.
PRIDEiQ5VYV7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334534; ENSP00000335557; ENSG00000149346.
GeneIDi128710.
KEGGihsa:128710.
UCSCiuc010zre.2. human.

Organism-specific databases

CTDi128710.
GeneCardsiGC20P010415.
H-InvDBHIX0027687.
HGNCiHGNC:16225. SLX4IP.
HPAiHPA046372.
MIMi615958. gene.
neXtProtiNX_Q5VYV7.
PharmGKBiPA25801.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG40225.
GeneTreeiENSGT00390000016400.
HOGENOMiHOG000112024.
HOVERGENiHBG094893.
InParanoidiQ5VYV7.
OMAiPGPKQSP.
OrthoDBiEOG7B31MT.
PhylomeDBiQ5VYV7.
TreeFamiTF330769.

Miscellaneous databases

GenomeRNAii128710.
NextBioi82430.
SOURCEiSearch...

Gene expression databases

BgeeiQ5VYV7.
CleanExiHS_C20orf94.
GenevestigatoriQ5VYV7.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Prostate.
  3. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. "Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair."
    Svendsen J.M., Smogorzewska A., Sowa M.E., O'Connell B.C., Gygi S.P., Elledge S.J., Harper J.W.
    Cell 138:63-77(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SLX4.
  5. Cited for: CHROMOSOMAL REARRANGEMENT.

Entry informationi

Entry nameiSLX4I_HUMAN
AccessioniPrimary (citable) accession number: Q5VYV7
Secondary accession number(s): Q05CG2, Q05CT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: December 7, 2004
Last modified: January 7, 2015
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.