GRB1L_HUMAN
ID GRB1L_HUMAN Reviewed; 1923 AA.
AC Q9C091; A4QN17; Q9H8F1;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=GREB1-like protein;
DE AltName: Full=Growth regulation by estrogen in breast cancer 1-like protein;
GN Name=GREB1L; Synonyms=C18orf6, KIAA1772;
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 MRNA] (ISOFORM 4).
RC TISSUE=Placenta, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1102 (ISOFORM 3).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-728 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [5]
RP INVOLVEMENT IN RHDA3, VARIANTS RHDA3 13-ARG--VAL-1923 DEL; HIS-128;
RP VAL-273; GLY-497; GLN-761; PRO-1066; 1099-GLN--VAL-1923 DEL; ALA-1549;
RP 1560-TYR--VAL-1923 DEL; PRO-1567; ILE-1615; THR-1655; CYS-1664; MET-1690
RP AND HIS-1884, CHARACTERIZATION OF VARIANTS RHDA3 VAL-926; PRO-1066;
RP PRO-1567; THR-1655 AND MET-1690, AND CHARACTERIZATION OF VARIANTS GLN-241
RP AND VAL-926.
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 [6]
RP INVOLVEMENT IN RHDA3, FUNCTION, VARIANTS RHDA3 LEU-192; GLN-328;
RP 594-GLU--VAL-1923 DEL; ARG-605; PHE-716; CYS-751; HIS-751;
RP 976-GLN--VAL-1923 DEL; THR-1502; VAL-1509; ARG-1536; SER-1558; VAL-1576 AND
RP ASN-1775, AND TISSUE SPECIFICITY.
RX PubMed=29100091; DOI=10.1016/j.ajhg.2017.09.026;
RA De Tomasi L., David P., Humbert C., Silbermann F., Arrondel C., Tores F.,
RA Fouquet S., Desgrange A., Niel O., Bole-Feysot C., Nitschke P., Roume J.,
RA Cordier M.P., Pietrement C., Isidor B., Khau Van Kien P., Gonzales M.,
RA Saint-Frison M.H., Martinovic J., Novo R., Piard J., Cabrol C., Verma I.C.,
RA Puri R., Journel H., Aziza J., Gavard L., Said-Menthon M.H., Heidet L.,
RA Saunier S., Jeanpierre C.;
RT "Mutations in GREB1L cause bilateral kidney agenesis in humans and mice.";
RL Am. J. Hum. Genet. 101:803-814(2017).
RN [7]
RP INVOLVEMENT IN RHDA3, AND VARIANT RHDA3 ARG-1793.
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 [8]
RP INVOLVEMENT IN DFNA80, TISSUE SPECIFICITY, AND VARIANT DFNA80
RP 328-ARG--VAL-1923 DEL.
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).
RN [9]
RP VARIANTS DFNA80 ILE-116 AND SER-283.
RX PubMed=32585897; DOI=10.3390/genes11060687;
RA Schrauwen I., Liaqat K., Schatteman I., Bharadwaj T., Nasir A., Acharya A.,
RA Ahmad W., Van Camp G., Leal S.M.;
RT "Autosomal dominantly inherited GREB1L variants in individuals with
RT profound sensorineural hearing impairment.";
RL Genes (Basel) 11:0-0(2020).
CC -!- FUNCTION: Plays a major role in early metanephros and genital
CC development. {ECO:0000269|PubMed:29100091}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9C091-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q9C091-3; Sequence=VSP_031762;
CC Name=4;
CC IsoId=Q9C091-4; Sequence=VSP_031764, VSP_031765;
CC -!- TISSUE SPECIFICITY: Widely expressed, with prominent expression in the
CC cochlea (PubMed:29955957). Expressed at high levels in fetal kidney
CC (PubMed:29100091). In adult tissues, highest levels in vagina, cervix
CC and epididymis (PubMed:29100091). {ECO:0000269|PubMed:29100091,
CC ECO:0000269|PubMed:29955957}.
CC -!- DISEASE: Renal hypodysplasia/aplasia 3 (RHDA3) [MIM:617805]: A severe,
CC autosomal dominant disease encompassing a spectrum of kidney
CC development defects. Clinical manifestations are highly variable and
CC include bilateral or unilateral renal agenesis, renal aplasia,
CC hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and
CC vesicoureteral reflux. Bilateral renal agenesis is almost invariably
CC fatal in utero or in the perinatal period. Unilateral renal agenesis
CC can lead to future health issues including end-stage renal disease.
CC {ECO:0000269|PubMed:28739660, ECO:0000269|PubMed:29100090,
CC ECO:0000269|PubMed:29100091}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Deafness, autosomal dominant, 80 (DFNA80) [MIM:619274]: A form
CC of non-syndromic, sensorineural hearing loss. Sensorineural hearing
CC loss results from damage to the neural receptors of the inner ear, the
CC nerve pathways to the brain, or the area of the brain that receives
CC sound information. DFNA80 is characterized by severe inner ear
CC malformations, bilateral cochlear aplasia and absent eighth cranial
CC nerve. {ECO:0000269|PubMed:29955957, ECO:0000269|PubMed:32585897}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the GREB1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI25018.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB14666.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=BAB14666.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB21863.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB21863.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact. Spurious priming from an intronic poly-A tract.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
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DR EMBL; AK023749; BAB14666.1; ALT_SEQ; mRNA.
DR EMBL; AK309723; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC011774; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC015878; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC125017; AAI25018.1; ALT_FRAME; mRNA.
DR EMBL; AB051559; BAB21863.1; ALT_SEQ; mRNA.
DR CCDS; CCDS45836.1; -. [Q9C091-1]
DR RefSeq; NP_001136438.1; NM_001142966.2. [Q9C091-1]
DR AlphaFoldDB; Q9C091; -.
DR BioGRID; 123059; 14.
DR IntAct; Q9C091; 6.
DR MINT; Q9C091; -.
DR STRING; 9606.ENSP00000464162; -.
DR CarbonylDB; Q9C091; -.
DR iPTMnet; Q9C091; -.
DR PhosphoSitePlus; Q9C091; -.
DR BioMuta; GREB1L; -.
DR DMDM; 172046226; -.
DR EPD; Q9C091; -.
DR jPOST; Q9C091; -.
DR MassIVE; Q9C091; -.
DR MaxQB; Q9C091; -.
DR PaxDb; Q9C091; -.
DR PeptideAtlas; Q9C091; -.
DR PRIDE; Q9C091; -.
DR ProteomicsDB; 79965; -. [Q9C091-1]
DR ProteomicsDB; 79966; -. [Q9C091-3]
DR ProteomicsDB; 79967; -. [Q9C091-4]
DR Antibodypedia; 70466; 12 antibodies from 6 providers.
DR DNASU; 80000; -.
DR Ensembl; ENST00000269218.10; ENSP00000269218.6; ENSG00000141449.16. [Q9C091-3]
DR Ensembl; ENST00000424526.7; ENSP00000412060.1; ENSG00000141449.16. [Q9C091-1]
DR Ensembl; ENST00000580732.6; ENSP00000464162.1; ENSG00000141449.16. [Q9C091-1]
DR GeneID; 80000; -.
DR KEGG; hsa:80000; -.
DR MANE-Select; ENST00000424526.7; ENSP00000412060.1; NM_001142966.3; NP_001136438.1.
DR UCSC; uc010xam.2; human. [Q9C091-1]
DR CTD; 80000; -.
DR DisGeNET; 80000; -.
DR GeneCards; GREB1L; -.
DR HGNC; HGNC:31042; GREB1L.
DR HPA; ENSG00000141449; Tissue enhanced (skeletal).
DR MalaCards; GREB1L; -.
DR MIM; 617782; gene.
DR MIM; 617805; phenotype.
DR MIM; 619274; phenotype.
DR neXtProt; NX_Q9C091; -.
DR OpenTargets; ENSG00000141449; -.
DR Orphanet; 1848; Renal agenesis, bilateral.
DR Orphanet; 93100; Renal agenesis, unilateral.
DR PharmGKB; PA165429012; -.
DR VEuPathDB; HostDB:ENSG00000141449; -.
DR eggNOG; ENOG502QQXD; Eukaryota.
DR GeneTree; ENSGT00390000008041; -.
DR HOGENOM; CLU_237163_0_0_1; -.
DR InParanoid; Q9C091; -.
DR OMA; LCTEQID; -.
DR PhylomeDB; Q9C091; -.
DR TreeFam; TF329531; -.
DR PathwayCommons; Q9C091; -.
DR SignaLink; Q9C091; -.
DR BioGRID-ORCS; 80000; 12 hits in 1063 CRISPR screens.
DR ChiTaRS; GREB1L; human.
DR GenomeRNAi; 80000; -.
DR Pharos; Q9C091; Tdark.
DR PRO; PR:Q9C091; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9C091; protein.
DR Bgee; ENSG00000141449; Expressed in buccal mucosa cell and 119 other tissues.
DR ExpressionAtlas; Q9C091; baseline and differential.
DR Genevisible; Q9C091; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEA:Ensembl.
DR GO; GO:0003231; P:cardiac ventricle development; IEA:Ensembl.
DR GO; GO:0001822; P:kidney development; IDA:MGI.
DR GO; GO:0030539; P:male genitalia development; IEA:Ensembl.
DR GO; GO:0072177; P:mesonephric duct development; IEA:Ensembl.
DR GO; GO:0001656; P:metanephros development; IEA:Ensembl.
DR GO; GO:0061205; P:paramesonephric duct development; IEA:Ensembl.
DR GO; GO:0060065; P:uterus development; IEA:Ensembl.
DR InterPro; IPR028422; GREB1.
DR InterPro; IPR024840; GREB1-like.
DR PANTHER; PTHR15720; PTHR15720; 2.
DR PANTHER; PTHR15720:SF12; PTHR15720:SF12; 2.
DR Pfam; PF15782; GREB1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Deafness; Developmental protein; Disease variant;
KW Membrane; Non-syndromic deafness; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..1923
FT /note="GREB1-like protein"
FT /id="PRO_0000320946"
FT TRANSMEM 1843..1862
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 87..111
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 246..326
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1101..1222
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 246..317
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1101..1115
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1116..1168
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1188..1211
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 466..574
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031762"
FT VAR_SEQ 729..747
FT /note="VLVDLGLEENGTAHQRAEK -> SSPGSHIAFSYVLFISCNL (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031764"
FT VAR_SEQ 748..1923
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031765"
FT VARIANT 13..1923
FT /note="Missing (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080091"
FT VARIANT 116
FT /note="T -> I (in DFNA80; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32585897"
FT /id="VAR_085591"
FT VARIANT 128
FT /note="R -> H (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080092"
FT VARIANT 192
FT /note="R -> L (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080093"
FT VARIANT 241
FT /note="R -> Q (able to rescue renal hypoplasia in zebrafish
FT morphants; dbSNP:rs147048716)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080094"
FT VARIANT 273
FT /note="G -> V (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080095"
FT VARIANT 283
FT /note="N -> S (in DFNA80; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32585897"
FT /id="VAR_085592"
FT VARIANT 328..1923
FT /note="Missing (in DFNA80)"
FT /evidence="ECO:0000269|PubMed:29955957"
FT /id="VAR_085593"
FT VARIANT 328
FT /note="R -> Q (in RHDA3; dbSNP:rs1311814599)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080096"
FT VARIANT 497
FT /note="A -> G (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080097"
FT VARIANT 594..1923
FT /note="Missing (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080098"
FT VARIANT 605
FT /note="S -> R (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080099"
FT VARIANT 716
FT /note="L -> F (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080100"
FT VARIANT 751
FT /note="R -> C (in RHDA3; dbSNP:rs1555654020)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080101"
FT VARIANT 751
FT /note="R -> H (in RHDA3; dbSNP:rs1343579561)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080102"
FT VARIANT 761
FT /note="E -> Q (in RHDA3; dbSNP:rs1465443065)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080103"
FT VARIANT 926
FT /note="A -> V (able to rescue renal hypoplasia in zebrafish
FT morphants; dbSNP:rs569900756)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080104"
FT VARIANT 976..1923
FT /note="Missing (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080105"
FT VARIANT 1066
FT /note="R -> P (in RHDA3; probable loss of function; does
FT not rescue renal hypoplasia in zebrafish morphants;
FT dbSNP:rs766987038)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080106"
FT VARIANT 1099..1923
FT /note="Missing (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080107"
FT VARIANT 1502
FT /note="M -> T (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080108"
FT VARIANT 1509
FT /note="D -> V (in RHDA3; dbSNP:rs1336205837)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080109"
FT VARIANT 1536
FT /note="H -> R (in RHDA3; dbSNP:rs1555662027)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080110"
FT VARIANT 1549
FT /note="V -> A (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080111"
FT VARIANT 1558
FT /note="R -> S (in RHDA3; dbSNP:rs1045574508)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080112"
FT VARIANT 1560..1923
FT /note="Missing (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080113"
FT VARIANT 1567
FT /note="L -> P (in RHDA3; probable loss of function; does
FT not rescue renal hypoplasia in zebrafish morphants;
FT dbSNP:rs1555662061)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080114"
FT VARIANT 1576
FT /note="A -> V (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080115"
FT VARIANT 1615
FT /note="V -> I (in RHDA3; dbSNP:rs1409376788)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080116"
FT VARIANT 1655
FT /note="I -> T (in RHDA3; probable loss of function; does
FT not rescue renal hypoplasia in zebrafish morphants)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080117"
FT VARIANT 1664
FT /note="Y -> C (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080118"
FT VARIANT 1690
FT /note="V -> M (in RHDA3; probable loss of function; does
FT not rescue renal hypoplasia in zebrafish morphants;
FT dbSNP:rs1555663997)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080119"
FT VARIANT 1775
FT /note="D -> N (in RHDA3)"
FT /evidence="ECO:0000269|PubMed:29100091"
FT /id="VAR_080120"
FT VARIANT 1793
FT /note="L -> R (in RHDA3; dbSNP:rs1555664772)"
FT /evidence="ECO:0000269|PubMed:28739660"
FT /id="VAR_080121"
FT VARIANT 1884
FT /note="R -> H (in RHDA3; dbSNP:rs1372640211)"
FT /evidence="ECO:0000269|PubMed:29100090"
FT /id="VAR_080122"
FT CONFLICT 254
FT /note="S -> F (in Ref. 3; AAI25018)"
FT /evidence="ECO:0000305"
FT CONFLICT 257
FT /note="S -> V (in Ref. 3; AAI25018)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1923 AA; 214354 MW; AE5EDD696A23DAFD CRC64;
MGNSYAGQLK SARFEEALHN SIEASLRCSS VVPRPIFSQL YLDPDQHPFS SADVKPKVED
LDKDLVNRYT QNGSLDFSNN LTVNEMEDDE DDEEMSDSNS PPIPYSQKPA PEGSCTTDGF
CQAGKDLRLV SLCMEQIDIP AGFLLVGAKS PNLPEHILVC AVDKRFLPDD HGKNALLGFS
GNCIGCGERG FRYFTEFSNH INLKLTTQPK KQKHLKYYLV RSSQGVLSKG PLICWKECRS
RQSSASCHSI KPSSSVSSTV TPENGTTNGY KSGFTQTDAA NGNSSHGGKG SASSSTPAHT
GNYSLSPRPS YASGDQATMF ISGPPKKRHR GWYPGSPLPQ PGLVVPVPTV RPLSRTEPLL
SAPVPQTPLT GILQPRPIPA GETVIVPENL LSNSGVRPVI LIGYGTLPYF YGNVGDIVVS
PLLVNCYKIP QLENKDLEKL GLTGSQFLSV ENMILLTIQY LVRLGPDQVP LREEFEQIML
KAMQEFTLRE RALQIGAQCV PVSPGQLPWL ARLIASVSQD LVHVVVTQNS LAEGISETLR
TLSEMRHYQR LPDYVVVICA SKIRGNEFCV VVLGQHQSRA LAESMLTTSE FLKEISYELI
TGKVSFLASH FKTTSLGDDL DKLLEKMQQR RGDSVVTPFD GDLNECVSPQ EAAAMIPTQN
LDLDNETFHI YQPQLTVARK LLSQVCAIAD SGSQSLDLGH FSKVDFIIIV PRSEVLVQQT
LQRIRQSGVL VDLGLEENGT AHQRAEKYVV RLDNEIQTKF EVFMRRVKQN PYTLFVLVHD
NSHVELTSVI SGSLSHSEPS HGLADRVINC REVLEAFNLL VLQVSSFPYT LQTQQSRISS
SNEVHWIQLD TGEDVGCEEK LYFGLSEYSK SLQWGITSPL LRCDETFEKM VNTLLERYPR
LHSMVVRCYL LIQQYSEALM ALTTMASLRD HSTPETLSIM DDLISSPGKN KSGRGHMLII
RVPSVQLAML AKERLQEVRD KLGLQYRFEI ILGNPATELS VATHFVARLK SWRGNEPEEW
IPRTYQDLDG LPCIVILTGK DPLGETFPRS LKYCDLRLID SSYLTRTALE QEVGLACCYV
SKEVIRGPTV ALDLSGKEQE RAAVSENDSD ELLIDLERPQ SNSSAVTGTS GSIMENGVSS
SSTADKSQKQ SLTPSFQSPA TSLGLDEGVS ASSAGAGAGE TLKQECDSLG PQMASSTTSK
PSSSSSGPRT LPWPGQPIRG CRGPQAALPP VVILSKAAYS LLGSQKSGKL PSSSSLLPHA
DVAWVSSLRP LLNKDMSSEE QSLYYRQWTL ARQHHADYSN QLDPASGTRN FHPRRLLLTG
PPQVGKTGSY LQFLRILFRM LIRLLEVDVY DEEEINTDHN ESSEVSQSEG EPWPDIESFS
KMPFDVSVHD PKYSLMSLVY TEKLAGVKQE VIKESKVEEP RKRETVSIML TKYAAYNTFH
HCEQCRQYMD FTSASQMSDS TLHAFTFSSS MLGEEVQLYF IIPKSKESHF VFSKQGKHLE
SMRLPLVSDK NLNAVKSPIF TPSSGRHEHG LLNLFHAMEG ISHLHLLVVK EYEMPLYRKY
WPNHIMLVLP GMFNNAGVGA ARFLIKELSY HNLELERNRL EELGIKRQCV WPFIVMMDDS
CVLWNIHSVQ EPSSQPMEVG VSSKNVSLKT VLQHIEATPK IVHYAILGIQ KWSSKLTSQS
LKAPFSRCHV HDFILLNTDL TQNVQYDFNR YFCEDADFNL RTNSSGLLIC RFNNFSLMKK
HVQVGGQRDF IIKPKIMVSE SLAPILPLQY ICAPDSEHTL LAAPAQFLLE KFLQHASYKL
FPKAIHNFRS PVLAIDCYLN IGPEVAICYI SSRPHSSNVN CEGVFFSGLL LYLCDSFVGA
DLKKFKFLKG ATLCVICQDR SSLRQTIVRL ELEDEWQFRL RDEFQTANSS DDKPLYFLTG
RHV
