NKAPL_HUMAN
ID NKAPL_HUMAN Reviewed; 402 AA.
AC Q5M9Q1; Q3MIV1; Q9H4Q7;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=NKAP-like protein;
GN Name=NKAPL; Synonyms=C6orf194;
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=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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS CYS-96 AND GLY-398.
RC TISSUE=Brain cortex, and Lung;
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).
CC -!- FUNCTION: Transcriptional repressor of Notch-mediated signaling.
CC Required for spermatogenesis. {ECO:0000250|UniProtKB:Q5SZT7}.
CC -!- SUBUNIT: Interacts with RBPJ, CIR1 and HDAC3.
CC {ECO:0000250|UniProtKB:Q5SZT7}.
CC -!- INTERACTION:
CC Q5M9Q1; A0A0C4DG62: ARL6IP4; NbExp=3; IntAct=EBI-11423380, EBI-12248874;
CC Q5M9Q1; P49761: CLK3; NbExp=3; IntAct=EBI-11423380, EBI-745579;
CC Q5M9Q1; Q9UJV9: DDX41; NbExp=5; IntAct=EBI-11423380, EBI-1046350;
CC Q5M9Q1; Q6ZUT1: NKAPD1; NbExp=3; IntAct=EBI-11423380, EBI-3920396;
CC Q5M9Q1; Q8N9Q2: SREK1IP1; NbExp=3; IntAct=EBI-11423380, EBI-10268630;
CC Q5M9Q1; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-11423380, EBI-740727;
CC Q5M9Q1; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-11423380, EBI-6427977;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5SZT7}.
CC -!- SIMILARITY: Belongs to the NKAP family. {ECO:0000305}.
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DR EMBL; AL390721; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC038240; AAH38240.1; -; mRNA.
DR EMBL; BC101681; AAI01682.1; -; mRNA.
DR EMBL; BC101685; AAI01686.1; -; mRNA.
DR CCDS; CCDS34353.1; -.
DR RefSeq; NP_001007532.1; NM_001007531.2.
DR AlphaFoldDB; Q5M9Q1; -.
DR SMR; Q5M9Q1; -.
DR BioGRID; 128814; 17.
DR IntAct; Q5M9Q1; 11.
DR MINT; Q5M9Q1; -.
DR STRING; 9606.ENSP00000345716; -.
DR iPTMnet; Q5M9Q1; -.
DR PhosphoSitePlus; Q5M9Q1; -.
DR BioMuta; NKAPL; -.
DR DMDM; 313104209; -.
DR jPOST; Q5M9Q1; -.
DR MassIVE; Q5M9Q1; -.
DR MaxQB; Q5M9Q1; -.
DR PaxDb; Q5M9Q1; -.
DR PeptideAtlas; Q5M9Q1; -.
DR PRIDE; Q5M9Q1; -.
DR Antibodypedia; 44746; 81 antibodies from 14 providers.
DR DNASU; 222698; -.
DR Ensembl; ENST00000343684.4; ENSP00000345716.3; ENSG00000189134.4.
DR GeneID; 222698; -.
DR KEGG; hsa:222698; -.
DR MANE-Select; ENST00000343684.4; ENSP00000345716.3; NM_001007531.3; NP_001007532.1.
DR UCSC; uc003nkt.5; human.
DR CTD; 222698; -.
DR DisGeNET; 222698; -.
DR GeneCards; NKAPL; -.
DR HGNC; HGNC:21584; NKAPL.
DR HPA; ENSG00000189134; Tissue enhanced (retina, testis).
DR neXtProt; NX_Q5M9Q1; -.
DR OpenTargets; ENSG00000189134; -.
DR PharmGKB; PA162397607; -.
DR VEuPathDB; HostDB:ENSG00000189134; -.
DR eggNOG; KOG2812; Eukaryota.
DR GeneTree; ENSGT00940000163102; -.
DR HOGENOM; CLU_032439_1_0_1; -.
DR InParanoid; Q5M9Q1; -.
DR OMA; GGYRYHH; -.
DR OrthoDB; 1561377at2759; -.
DR PhylomeDB; Q5M9Q1; -.
DR TreeFam; TF315333; -.
DR PathwayCommons; Q5M9Q1; -.
DR SignaLink; Q5M9Q1; -.
DR BioGRID-ORCS; 222698; 14 hits in 1064 CRISPR screens.
DR GenomeRNAi; 222698; -.
DR Pharos; Q5M9Q1; Tbio.
DR PRO; PR:Q5M9Q1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5M9Q1; protein.
DR Bgee; ENSG00000189134; Expressed in buccal mucosa cell and 142 other tissues.
DR Genevisible; Q5M9Q1; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IEA:InterPro.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR040466; NKAP.
DR InterPro; IPR009269; NKAP_C.
DR PANTHER; PTHR13087; PTHR13087; 1.
DR Pfam; PF06047; Nkap_C; 1.
PE 1: Evidence at protein level;
KW Differentiation; Nucleus; Phosphoprotein; Reference proteome;
KW Spermatogenesis; Transcription; Transcription regulation.
FT CHAIN 1..402
FT /note="NKAP-like protein"
FT /id="PRO_0000260078"
FT REGION 1..56
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 105..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 20..41
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 105..131
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 155..178
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 179..197
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..244
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 245..261
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 23
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5SZT7"
FT MOD_RES 148
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5SZT7"
FT VARIANT 96
FT /note="Y -> C (in dbSNP:rs12000)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_028999"
FT VARIANT 152
FT /note="T -> N (in dbSNP:rs1635)"
FT /id="VAR_029000"
FT VARIANT 162
FT /note="H -> Y (in dbSNP:rs9461446)"
FT /id="VAR_029001"
FT VARIANT 398
FT /note="E -> G (in dbSNP:rs1679709)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029002"
SQ SEQUENCE 402 AA; 46312 MW; 071997D7635E219B CRC64;
MPPVSRSSYS EDIVGSRRRR RSSSGSPPSP QSRCSSWDGC SRSHSRGREG LRPPWSELDV
GALYPFSRSG SRGRLPRFRN YAFASSWSTS YSGYRYHRHC YAEERQSAED YEKEESHRQR
RLKERERIGE LGAPEVWGPS PKFPQLDSDE HTPVEDEEEV THQKSSSSDS NSEEHRKKKT
SRSRNKKKRK NKSSKRKHRK YSDSDSNSES DTNSDSDDDK KRVKAKKKKK KKKHKTKKKK
NKKTKKESSD SSCKDSEEDL SEATWMEQPN VADTMDLIGP EAPIIHTSQD EKPLKYGHAL
LPGEGAAMAE YVKAGKRIPR RGEIGLTSEE IGSFECSGYV MSGSRHRRME AVRLRKENQI
YSADEKRALA SFNQEERRKR ESKILASFRE MVHKKTKEKD DK
