NANP8_HUMAN
ID NANP8_HUMAN Reviewed; 305 AA.
AC Q6NSW7; J7H3Y9; J7H3Z5; J7H408; J7H412; J7H416; J7H738; J7H745; J7H749;
AC J7H9S6; J7H9T4; J7HAW9; J7HAX1; J7HAX8;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Homeobox protein NANOGP8;
GN Name=NANOGP8;
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], VARIANT ALA-16, FUNCTION, AND SUBCELLULAR
RP LOCATION.
RC TISSUE=Urinary bladder carcinoma;
RX PubMed=16623708; DOI=10.1111/j.1742-4658.2006.05186.x;
RA Zhang J., Wang X., Li M., Han J., Chen B., Wang B., Dai J.;
RT "NANOGP8 is a retrogene expressed in cancers.";
RL FEBS J. 273:1723-1730(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-13; ALA-16; PRO-37;
RP TYR-64; TYR-68; ARG-96; PRO-107; GLY-127; ARG-146; GLY-207; SER-208;
RP ILE-210; SER-218; GLY-262 AND ARG-301.
RX PubMed=23173096; DOI=10.1534/g3.112.004366;
RA Fairbanks D.J., Fairbanks A.D., Ogden T.H., Parker G.J., Maughan P.J.;
RT "NANOGP8: evolution of a human-specific retro-oncogene.";
RL G3 (Bethesda) 2:1447-1457(2012).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [6]
RP GENE FAMILY.
RX PubMed=15233988; DOI=10.1016/j.ygeno.2004.02.014;
RA Booth H.A., Holland P.W.;
RT "Eleven daughters of NANOG.";
RL Genomics 84:229-238(2004).
RN [7]
RP GENE FAMILY.
RX PubMed=16469101; DOI=10.1186/1471-2148-6-12;
RA Fairbanks D.J., Maughan P.J.;
RT "Evolution of the NANOG pseudogene family in the human and chimpanzee
RT genomes.";
RL BMC Evol. Biol. 6:12-12(2006).
CC -!- FUNCTION: May act as a transcription regulator (By similarity). When
CC overexpressed, promotes entry of cells into S phase and cell
CC proliferation. {ECO:0000250, ECO:0000269|PubMed:16623708}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
CC ECO:0000269|PubMed:16623708}.
CC -!- SIMILARITY: Belongs to the Nanog homeobox family. {ECO:0000305}.
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DR EMBL; JX104830; AFP90859.1; -; Genomic_DNA.
DR EMBL; JX104831; AFP90860.1; -; Genomic_DNA.
DR EMBL; JX104832; AFP90861.1; -; Genomic_DNA.
DR EMBL; JX104833; AFP90862.1; -; Genomic_DNA.
DR EMBL; JX104834; AFP90863.1; -; Genomic_DNA.
DR EMBL; JX104835; AFP90864.1; -; Genomic_DNA.
DR EMBL; JX104836; AFP90865.1; -; Genomic_DNA.
DR EMBL; JX104837; AFP90866.1; -; Genomic_DNA.
DR EMBL; JX104838; AFP90867.1; -; Genomic_DNA.
DR EMBL; JX104839; AFP90868.1; -; Genomic_DNA.
DR EMBL; JX104840; AFP90869.1; -; Genomic_DNA.
DR EMBL; JX104841; AFP90870.1; -; Genomic_DNA.
DR EMBL; JX104842; AFP90871.1; -; Genomic_DNA.
DR EMBL; JX104843; AFP90872.1; -; Genomic_DNA.
DR EMBL; JX104844; AFP90873.1; -; Genomic_DNA.
DR EMBL; JX104845; AFP90874.1; -; Genomic_DNA.
DR EMBL; JX104846; AFP90875.1; -; Genomic_DNA.
DR EMBL; JX104847; AFP90876.1; -; Genomic_DNA.
DR EMBL; JX104848; AFP90877.1; -; Genomic_DNA.
DR EMBL; AC021231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471125; EAW92325.1; -; Genomic_DNA.
DR EMBL; CH471125; EAW92326.1; -; Genomic_DNA.
DR EMBL; BC069807; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC098275; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC099704; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS86444.1; -.
DR AlphaFoldDB; Q6NSW7; -.
DR BMRB; Q6NSW7; -.
DR SMR; Q6NSW7; -.
DR IntAct; Q6NSW7; 1.
DR BioMuta; NANOGP8; -.
DR DMDM; 74762336; -.
DR jPOST; Q6NSW7; -.
DR PeptideAtlas; Q6NSW7; -.
DR PRIDE; Q6NSW7; -.
DR ProteomicsDB; 66643; -.
DR Antibodypedia; 78278; 20 antibodies from 7 providers.
DR Ensembl; ENST00000528386.4; ENSP00000487073.2; ENSG00000255192.6.
DR MANE-Select; ENST00000528386.4; ENSP00000487073.2; NM_001355281.2; NP_001342210.1.
DR UCSC; uc032bzh.2; human.
DR GeneCards; NANOGP8; -.
DR HGNC; HGNC:23106; NANOGP8.
DR HPA; ENSG00000255192; Tissue enriched (brain).
DR neXtProt; NX_Q6NSW7; -.
DR OpenTargets; ENSG00000255192; -.
DR VEuPathDB; HostDB:ENSG00000255192; -.
DR GeneTree; ENSGT00670000098076; -.
DR InParanoid; Q6NSW7; -.
DR OMA; QECLVNT; -.
DR PhylomeDB; Q6NSW7; -.
DR PathwayCommons; Q6NSW7; -.
DR SignaLink; Q6NSW7; -.
DR SIGNOR; Q6NSW7; -.
DR Pharos; Q6NSW7; Tdark.
DR PRO; PR:Q6NSW7; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q6NSW7; protein.
DR Bgee; ENSG00000255192; Expressed in sural nerve and 57 other tissues.
DR ExpressionAtlas; Q6NSW7; baseline and differential.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1902808; P:positive regulation of cell cycle G1/S phase transition; IDA:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IDA:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW DNA-binding; Homeobox; Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation.
FT CHAIN 1..305
FT /note="Homeobox protein NANOGP8"
FT /id="PRO_0000261424"
FT REPEAT 196..200
FT /note="1"
FT REPEAT 201..205
FT /note="2"
FT REPEAT 206..210
FT /note="3"
FT REPEAT 216..220
FT /note="4"
FT REPEAT 221..225
FT /note="5"
FT REPEAT 226..230
FT /note="6"
FT REPEAT 231..235
FT /note="7"
FT REPEAT 236..240
FT /note="8"
FT DNA_BIND 95..154
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..96
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 196..240
FT /note="8 X repeats starting with a Trp in each unit"
FT REGION 196..240
FT /note="Sufficient for transactivation activity"
FT /evidence="ECO:0000250"
FT REGION 241..305
FT /note="Sufficient for strong transactivation activity"
FT /evidence="ECO:0000250"
FT COMPBIAS 35..81
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 82..96
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 13
FT /note="C -> R"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080142"
FT VARIANT 16
FT /note="E -> A (found in ethnically diverse individuals;
FT dbSNP:rs2004079)"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080143"
FT VARIANT 37
FT /note="S -> P"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080144"
FT VARIANT 64
FT /note="D -> Y (in dbSNP:rs2257251)"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080145"
FT VARIANT 68
FT /note="S -> Y (in dbSNP:rs146363687)"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080146"
FT VARIANT 96
FT /note="Q -> R"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080147"
FT VARIANT 107
FT /note="L -> P (in dbSNP:rs1012377776)"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080148"
FT VARIANT 127
FT /note="E -> G"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080149"
FT VARIANT 146
FT /note="Q -> R"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080150"
FT VARIANT 207
FT /note="S -> G"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080151"
FT VARIANT 208
FT /note="N -> S"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080152"
FT VARIANT 210
FT /note="T -> I (in dbSNP:rs9944179)"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080153"
FT VARIANT 218
FT /note="N -> S"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080154"
FT VARIANT 262
FT /note="D -> G (in dbSNP:rs1326719179)"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080155"
FT VARIANT 301
FT /note="Q -> R"
FT /evidence="ECO:0000269|PubMed:23173096"
FT /id="VAR_080156"
SQ SEQUENCE 305 AA; 34673 MW; C59ECF476A600EB0 CRC64;
MSVDPACPQS LPCFEESDCK ESSPMPVICG PEENYPSLQM SSAEMPHTET VSPLPSSMDL
LIQDSPDSST SPKGKQPTSA ENSVAKKEDK VPVKKQKTRT VFSSTQLCVL NDRFQRQKYL
SLQQMQELSN ILNLSYKQVK TWFQNQRMKS KRWQKNNWPK NSNGVTQKAS APTYPSLYSS
YHQGCLVNPT GNLPMWSNQT WNNSTWSNQT QNIQSWSNHS WNTQTWCTQS WNNQAWNSPF
YNCGEESLQS CMHFQPNSPA SDLEAALEAA GEGLNVIQQT TRYFSTPQTM DLFLNYSMNM
QPEDV