HUS1B_HUMAN
ID HUS1B_HUMAN Reviewed; 278 AA.
AC Q8NHY5; Q5T4Z2;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Checkpoint protein HUS1B;
DE Short=hHUS1B;
GN Name=HUS1B;
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], INTERACTION WITH RAD1, TISSUE SPECIFICITY, AND
RP VARIANT TYR-268.
RX PubMed=11944979; DOI=10.1006/geno.2002.6737;
RA Hang H., Zhang Y., Dunbrack R.L. Jr., Wang C., Lieberman H.B.;
RT "Identification and characterization of a paralog of human cell cycle
RT checkpoint gene HUS1.";
RL Genomics 79:487-492(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT TYR-268.
RC TISSUE=Liver;
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 INTERACTION WITH RAD9B.
RX PubMed=14500360;
RA Hopkins K.M., Wang X., Berlin A., Hang H., Thaker H.M., Lieberman H.B.;
RT "Expression of mammalian paralogues of HRAD9 and Mrad9 checkpoint control
RT genes in normal and cancerous testicular tissue.";
RL Cancer Res. 63:5291-5298(2003).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- SUBUNIT: Interacts with RAD1 and RAD9B. {ECO:0000269|PubMed:11944979,
CC ECO:0000269|PubMed:14500360}.
CC -!- TISSUE SPECIFICITY: Expressed strongly in testis, less in spleen,
CC thymus, prostate, colon and leukocytes. {ECO:0000269|PubMed:11944979}.
CC -!- SIMILARITY: Belongs to the HUS1 family. {ECO:0000305}.
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DR EMBL; AF508547; AAM28904.1; -; mRNA.
DR EMBL; AL357054; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101697; AAI01698.1; -; mRNA.
DR EMBL; BC101699; AAI01700.1; -; mRNA.
DR CCDS; CCDS4470.1; -.
DR RefSeq; NP_683762.2; NM_148959.3.
DR AlphaFoldDB; Q8NHY5; -.
DR SMR; Q8NHY5; -.
DR BioGRID; 126430; 23.
DR CORUM; Q8NHY5; -.
DR IntAct; Q8NHY5; 15.
DR STRING; 9606.ENSP00000370293; -.
DR iPTMnet; Q8NHY5; -.
DR PhosphoSitePlus; Q8NHY5; -.
DR BioMuta; HUS1B; -.
DR DMDM; 311033394; -.
DR jPOST; Q8NHY5; -.
DR MassIVE; Q8NHY5; -.
DR PaxDb; Q8NHY5; -.
DR PeptideAtlas; Q8NHY5; -.
DR PRIDE; Q8NHY5; -.
DR ProteomicsDB; 73790; -.
DR Antibodypedia; 24237; 126 antibodies from 28 providers.
DR DNASU; 135458; -.
DR Ensembl; ENST00000380907.3; ENSP00000370293.2; ENSG00000188996.5.
DR GeneID; 135458; -.
DR KEGG; hsa:135458; -.
DR MANE-Select; ENST00000380907.3; ENSP00000370293.2; NM_148959.4; NP_683762.2.
DR UCSC; uc003mtg.4; human.
DR CTD; 135458; -.
DR DisGeNET; 135458; -.
DR GeneCards; HUS1B; -.
DR HGNC; HGNC:16485; HUS1B.
DR HPA; ENSG00000188996; Tissue enhanced (testis).
DR MIM; 609713; gene.
DR neXtProt; NX_Q8NHY5; -.
DR OpenTargets; ENSG00000188996; -.
DR PharmGKB; PA134939889; -.
DR VEuPathDB; HostDB:ENSG00000188996; -.
DR eggNOG; KOG3999; Eukaryota.
DR GeneTree; ENSGT00390000000706; -.
DR HOGENOM; CLU_035754_1_0_1; -.
DR InParanoid; Q8NHY5; -.
DR OMA; IIPASDW; -.
DR OrthoDB; 1053181at2759; -.
DR PhylomeDB; Q8NHY5; -.
DR TreeFam; TF314491; -.
DR PathwayCommons; Q8NHY5; -.
DR SignaLink; Q8NHY5; -.
DR BioGRID-ORCS; 135458; 6 hits in 1074 CRISPR screens.
DR GenomeRNAi; 135458; -.
DR Pharos; Q8NHY5; Tdark.
DR PRO; PR:Q8NHY5; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8NHY5; protein.
DR Bgee; ENSG00000188996; Expressed in secondary oocyte and 114 other tissues.
DR Genevisible; Q8NHY5; HS.
DR GO; GO:0030896; C:checkpoint clamp complex; IBA:GO_Central.
DR GO; GO:0005730; C:nucleolus; IEA:InterPro.
DR GO; GO:0035861; C:site of double-strand break; IBA:GO_Central.
DR GO; GO:0000724; P:double-strand break repair via homologous recombination; IBA:GO_Central.
DR GO; GO:0044778; P:meiotic DNA integrity checkpoint signaling; IBA:GO_Central.
DR GO; GO:0033314; P:mitotic DNA replication checkpoint signaling; IBA:GO_Central.
DR GO; GO:0031573; P:mitotic intra-S DNA damage checkpoint signaling; IBA:GO_Central.
DR GO; GO:0006289; P:nucleotide-excision repair; IBA:GO_Central.
DR GO; GO:0000723; P:telomere maintenance; IBA:GO_Central.
DR InterPro; IPR016580; Cell_cycle_HUS1.
DR InterPro; IPR007150; Hus1/Mec3.
DR Pfam; PF04005; Hus1; 1.
DR PIRSF; PIRSF011312; Cell_cycle_HUS1; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..278
FT /note="Checkpoint protein HUS1B"
FT /id="PRO_0000226245"
FT VARIANT 130
FT /note="H -> Q (in dbSNP:rs1766848)"
FT /id="VAR_031206"
FT VARIANT 201
FT /note="Q -> R (in dbSNP:rs17136239)"
FT /id="VAR_031207"
FT VARIANT 268
FT /note="D -> Y (in dbSNP:rs1211554)"
FT /evidence="ECO:0000269|PubMed:11944979,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_025497"
SQ SEQUENCE 278 AA; 30982 MW; 156F1ECAB50B2B54 CRC64;
MKFRAKITGK GCLELFIHVS GTVARLAKVC VLRVRPDSLC FGPAGSGGLH EARLWCEVRQ
GAFQQFRMEG VSEDLDEIHL ELTAEHLSRA ARSAAGASSL KLQLTHKRRP SLTVAVELVS
SLGRARSVVH DLPVRVLPRR VWRDCLPPSL RASDASIRLP RWRTLRSIVE RMANVGSHVL
VEANLSGRMT LSIETEVVSI QSYFKNLGNP PQSAVGVPEN RDLESMVQVR VDNRKLLQFL
EGQQIHPTTA LCNIWDNTLL QLVLVQEDVS LQYFIPAL