GRB1L_DANRE
ID GRB1L_DANRE Reviewed; 1942 AA.
AC B8JKP6; F1QLH8;
DT 31-JAN-2018, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 2.
DT 03-AUG-2022, entry version 77.
DE RecName: Full=GREB1-like protein;
GN Name=greb1l;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=29100090; DOI=10.1016/j.ajhg.2017.09.018;
RA Sanna-Cherchi S., Khan K., Westland R., Krithivasan P., Fievet L.,
RA Rasouly H.M., Ionita-Laza I., Capone V.P., Fasel D.A., Kiryluk K.,
RA Kamalakaran S., Bodria M., Otto E.A., Sampson M.G., Gillies C.E.,
RA Vega-Warner V., Vukojevic K., Pediaditakis I., Makar G.S., Mitrotti A.,
RA Verbitsky M., Martino J., Liu Q., Na Y.J., Goj V., Ardissino G.,
RA Gigante M., Gesualdo L., Janezcko M., Zaniew M., Mendelsohn C.L., Shril S.,
RA Hildebrandt F., van Wijk J.A.E., Arapovic A., Saraga M., Allegri L.,
RA Izzi C., Scolari F., Tasic V., Ghiggeri G.M., Latos-Bielenska A.,
RA Materna-Kiryluk A., Mane S., Goldstein D.B., Lifton R.P., Katsanis N.,
RA Davis E.E., Gharavi A.G.;
RT "Exome-wide association study identifies GREB1L mutations in congenital
RT kidney malformations.";
RL Am. J. Hum. Genet. 101:789-802(2017).
RN [3]
RP FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=28739660; DOI=10.1534/genetics.117.1125;
RA Brophy P.D., Rasmussen M., Parida M., Bonde G., Darbro B.W., Hong X.,
RA Clarke J.C., Peterson K.A., Denegre J., Schneider M., Sussman C.R.,
RA Sunde L., Lildballe D.L., Hertz J.M., Cornell R.A., Murray S.A.,
RA Manak J.R.;
RT "A gene implicated in activation of retinoic acid receptor targets is a
RT novel renal agenesis gene in humans.";
RL Genetics 207:215-228(2017).
RN [4]
RP MUTAGENESIS OF 408-GLN--ILE-1942.
RX PubMed=29955957; DOI=10.1007/s00439-018-1898-8;
RA Schrauwen I., Kari E., Mattox J., Llaci L., Smeeton J., Naymik M.,
RA Raible D.W., Knowles J.A., Crump J.G., Huentelman M.J., Friedman R.A.;
RT "De novo variants in GREB1L are associated with non-syndromic inner ear
RT malformations and deafness.";
RL Hum. Genet. 137:459-470(2018).
CC -!- FUNCTION: Plays a major role in early metanephros development.
CC {ECO:0000269|PubMed:28739660, ECO:0000269|PubMed:29100090}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
CC protein {ECO:0000255}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the mesoderm, including the
CC intermediate mesoderm, the origin of the pronephros, at 90% epiboly
CC (8.5 hpf) and early somitogenesis stages (11.5 hpf).
CC {ECO:0000269|PubMed:28739660}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein causes
CC abnormal morphology of the proximal kidney.
CC {ECO:0000269|PubMed:28739660, ECO:0000269|PubMed:29100090}.
CC -!- SIMILARITY: Belongs to the GREB1 family. {ECO:0000305}.
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DR EMBL; CT573467; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU138514; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU682364; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_001344452.4; XM_001344416.7.
DR RefSeq; XP_009296315.1; XM_009298040.1.
DR AlphaFoldDB; B8JKP6; -.
DR STRING; 7955.ENSDARP00000122959; -.
DR PaxDb; B8JKP6; -.
DR PeptideAtlas; B8JKP6; -.
DR Ensembl; ENSDART00000057268; ENSDARP00000057267; ENSDARG00000039196.
DR Ensembl; ENSDART00000138562; ENSDARP00000122959; ENSDARG00000039196.
DR GeneID; 100005373; -.
DR CTD; 80000; -.
DR ZFIN; ZDB-GENE-030131-4022; greb1l.
DR eggNOG; ENOG502QQXD; Eukaryota.
DR GeneTree; ENSGT00390000008041; -.
DR HOGENOM; CLU_237163_0_0_1; -.
DR OMA; LCTEQID; -.
DR OrthoDB; 70299at2759; -.
DR PhylomeDB; B8JKP6; -.
DR TreeFam; TF329531; -.
DR PRO; PR:B8JKP6; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 2.
DR Bgee; ENSDARG00000039196; Expressed in spleen and 23 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0001822; P:kidney development; IMP:UniProtKB.
DR GO; GO:0048793; P:pronephros development; IMP:ZFIN.
DR InterPro; IPR028422; GREB1.
DR InterPro; IPR024840; GREB1-like.
DR PANTHER; PTHR15720; PTHR15720; 1.
DR PANTHER; PTHR15720:SF12; PTHR15720:SF12; 1.
DR Pfam; PF15782; GREB1; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..1942
FT /note="GREB1-like protein"
FT /id="PRO_0000443101"
FT TRANSMEM 1861..1881
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 76..101
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 235..306
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 325..373
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1123..1256
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 235..286
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 325..362
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1123..1153
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1159..1256
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 408..1942
FT /note="Missing: Homozygous mutant embryos show abnormal
FT innervation of the sensory epithelia."
FT /evidence="ECO:0000269|PubMed:29955957"
SQ SEQUENCE 1942 AA; 214830 MW; 9AC758124795D4E0 CRC64;
MGNSYAGQLK SARFEEALHN SIEASLRSSG GDPQPVFTQL YLEPDQYSGH VEDIKPKMDL
SLRSDPSTHV LVKCHSSNSV EDMDDEDDSD TSSPPLPYLQ GPPPDGCCTV DGFCQAGKDL
RLVSMATESI EVPAGFELVG AKSPSIPEHI LVCAVDKRFL PDENGKNALL GFSGNCVGCG
EKGFRYFTEF SNHINLKLST QPKKQKHLKY YLVKNSQGAL CKGALICWKD CKTRPFSNSA
SSSKPSSSSS LSSKENGDTN GHSPSPFPLS DSPPARMQSG SSSGIFGPQE LGFLKPLNTP
THGTKTLPIV PTALRVNGLT NGLSMDGRST LLSPPRTNPL STPSHGYRTT ETGDSPASTA
MSTGPPKKRH RSWHPTTLVP IPATAVPVPA IRPLTCSSGP LLSLSNQQPA SVSGVIQPQP
ITAGETVIIP DNLLNSYGVR PVLLIGQGTL PYFFGNVGDL VVSPLLVSCY KGRELNEKTL
ASLGMSANQL LTTETMILLT LQYLARLGTE QIPLREEFEQ IMLKAMLCGP TGPPVSPAQL
PWLARMEASV SGGSVQVLVT HGSLGEGISE SLRSLSETSP QQQQCLPNYV LIICTSKSGA
NEFCVLVLGK YQSRALAESM LSTNEFLKEI SYELITGKVS VLASHFQSTS LGDNMDKQLV
RYQRKRKDRV VQPFQGHLTE YIHSQEAATM IPESGPDLLS DDFQIHPPQL SVARSLLSQV
CAIADSGSQS LDLGRFCKVD FLILVPPSHV LVHQTVQRIR QSGVLIDLGI EDVSLAMQKS
DKYVVRLDTE VHTKMEAFMR KVKQNPYTLF VLIHDNSHVD LTSALSGSVC HGELQGLADR
VVNCPEVLEA INLLVLQVSC FPFTLQSRQS RISTQNEVHW PDTENQQGEA SPKDLIYFGL
KDYSKSLQWG VASPILRCDD AFERMVKTLL ERHPHLHSMV IRSYLLIQQY TEALMALTAA
PSLRDHVTPQ TLAMVEDLLS VPGRSKHGCG HMLLVRVPSL QLARLAQERL EEARDKLGLQ
YRFAVLLGSP AAEISLPVHF CARLRAWRGC KNEEWVPHTY EDLEGLPCIV ILTGKDPLGE
TFPRSLKYCD LRLIDSSYLT RTALEQEVGL ACSYVTRRVI PKTKTATSRE ERPREGERSS
GETAEHDDLP MELERPPSNA SAATRTSGST TENGVSSSSI LDKPSSQSDP CGSRTMMDSC
SSPVRFKQEC DSQAPSSSST SSFSSASSSS SSSSSPAAQR PSQSTQAPRE CNRTQVFPRT
AVLSRAAYTL LAPETLGHPS SASLLPHADV SWSSPLRPPV PHGLGGAEQS LYYRQWTTAR
QHHADYEGPV PHPHPRRLLL SGPPQVGKTG AYLQFLRILF RMLIRLLEVD VYDEEELEED
VQDKSKVPPS SGPQWPDVED VRKLRFDLCP HDCKFKYSSP VYANRMPKTQ SGVKTERLDT
EADPPKRNTV SVRLSLFAAH NAFHHCEQCH HYSEPIPAAQ LSDCTFHAFT FCSSMLGEEV
QLHFIIPKSK ESHFVFSQQG SHLESMRLPL LSDKESGMMK SPIFTPTTGR QEHGLLNIYH
AMEGAEHLHI LVVKQYEMPL YRKYWPNHIL LVLPAMFNNS GVGAARFMIK ELSYHNLELE
RNRQEEQGVK RQDVWPFIVM MDDSCVLWNA QQPGPDGKTE VMNVSLKSVL QHMEATPKIS
QYAVCGLRKW SSSLSSQAPT SPFSRCHLHD LILLNVDLTQ NVQYDLNRFT CEEVDFNLRA
NSSGLLLCRF NQFSIMKKHI PIGGHKDFLI KPKLMRIETP VRVCASQYVC APDSEQTLLA
APAQFLLEKF LQSCSHRLFP LALSNSANPV LSIDSYLNLG PEVQVCYVSS RPHSVNVDHQ
GVIFSGLLLY LCDSFVVSSL LKKFNFLKGA TLCVICQDRS SLRQTIVRLE LEDEWQFRLR
DEFQTANCSE DRPLYFLTGR HI
