GATA5_HUMAN
ID GATA5_HUMAN Reviewed; 397 AA.
AC Q9BWX5; D9ZGF7; Q17RE2; Q86VU4;
DT 31-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Transcription factor GATA-5;
DE AltName: Full=GATA-binding factor 5;
GN Name=GATA5 {ECO:0000312|HGNC:HGNC:15802};
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 [GENOMIC DNA].
RA Rieder M.J., Bertucci C., Stanaway I.B., Johnson E.J., Swanson J.E.,
RA Siegel D.L., da Ponte S.H., Igartua C., Patterson K., Nickerson D.A.;
RL Submitted (MAR-2010) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 [5]
RP INVOLVEMENT IN CHTD5, VARIANTS CHTD5 PHE-138 AND GLY-210, AND
RP CHARACTERIZATION OF VARIANTS CHTD5 PHE-138 AND GLY-210.
RX PubMed=23295592; DOI=10.6061/clinics/2012(12)08;
RA Gu J.Y., Xu J.H., Yu H., Yang Y.Q.;
RT "Novel GATA5 loss-of-function mutations underlie familial atrial
RT fibrillation.";
RL Clinics (Sao Paulo) 67:1393-1399(2012).
RN [6]
RP INVOLVEMENT IN CHTD5, AND VARIANTS CHTD5 VAL-184; THR-218 AND PRO-266.
RX PubMed=22483626; DOI=10.1016/j.ijcard.2012.03.132;
RA Yang Y.Q., Wang J., Wang X.H., Wang Q., Tan H.W., Zhang M., Shen F.F.,
RA Jiang J.Q., Fang W.Y., Liu X.;
RT "Mutational spectrum of the GATA5 gene associated with familial atrial
RT fibrillation.";
RL Int. J. Cardiol. 157:305-307(2012).
RN [7]
RP INVOLVEMENT IN CHTD5, VARIANT CHTD5 HIS-142, AND VARIANTS ARG-3; TRP-19;
RP PRO-67 AND SER-166.
RX PubMed=22641149; DOI=10.1016/j.yjmcc.2012.05.009;
RA Padang R., Bagnall R.D., Richmond D.R., Bannon P.G., Semsarian C.;
RT "Rare non-synonymous variations in the transcriptional activation domains
RT of GATA5 in bicuspid aortic valve disease.";
RL J. Mol. Cell. Cardiol. 53:277-281(2012).
RN [8]
RP INVOLVEMENT IN CHTD5, AND VARIANTS CHTD5 GLY-132; ALA-190; HIS-223 AND
RP ARG-274.
RX PubMed=23031282; DOI=10.1016/j.ijcard.2012.09.039;
RA Jiang J.Q., Li R.G., Wang J., Liu X.Y., Xu Y.J., Fang W.Y., Chen X.Z.,
RA Zhang W., Wang X.Z., Yang Y.Q.;
RT "Prevalence and spectrum of GATA5 mutations associated with congenital
RT heart disease.";
RL Int. J. Cardiol. 165:570-573(2013).
RN [9]
RP INVOLVEMENT IN CHTD5, VARIANTS CHTD5 GLY-187 AND ARG-207, CHARACTERIZATION
RP OF CHTD5 VARIANTS GLY-187 AND ARG-207, AND FUNCTION.
RX PubMed=23289003; DOI=10.7150/ijms.5270;
RA Wei D., Bao H., Liu X.Y., Zhou N., Wang Q., Li R.G., Xu Y.J., Yang Y.Q.;
RT "GATA5 loss-of-function mutations underlie tetralogy of fallot.";
RL Int. J. Med. Sci. 10:34-42(2013).
RN [10]
RP INVOLVEMENT IN CHTD5, VARIANT CHTD5 GLY-200, AND CHARACTERIZATION OF
RP VARIANT CHTD5 GLY-200.
RX PubMed=23175127; DOI=10.3892/ijmm.2012.1189;
RA Wang X.H., Huang C.X., Wang Q., Li R.G., Xu Y.J., Liu X., Fang W.Y.,
RA Yang Y.Q.;
RT "A novel GATA5 loss-of-function mutation underlies lone atrial
RT fibrillation.";
RL Int. J. Mol. Med. 31:43-50(2013).
RN [11]
RP INVOLVEMENT IN CHTD5, VARIANT CHTD5 VAL-199, AND CHARACTERIZATION OF
RP VARIANT CHTD5 VAL-199.
RX PubMed=22961344; DOI=10.1007/s00246-012-0482-6;
RA Wei D., Bao H., Zhou N., Zheng G.F., Liu X.Y., Yang Y.Q.;
RT "GATA5 loss-of-function mutation responsible for the congenital
RT ventriculoseptal defect.";
RL Pediatr. Cardiol. 34:504-511(2013).
RN [12]
RP INVOLVEMENT IN CHTD5, VARIANTS CHTD5 ASP-16 AND PRO-252, AND
RP CHARACTERIZATION OF VARIANTS CHTD5 ASP-16 AND PRO-252.
RX PubMed=24638895; DOI=10.3892/ijmm.2014.1700;
RA Shi L.M., Tao J.W., Qiu X.B., Wang J., Yuan F., Xu L., Liu H., Li R.G.,
RA Xu Y.J., Wang Q., Zheng H.Z., Li X., Wang X.Z., Zhang M., Qu X.K.,
RA Yang Y.Q.;
RT "GATA5 loss-of-function mutations associated with congenital bicuspid
RT aortic valve.";
RL Int. J. Mol. Med. 33:1219-1226(2014).
RN [13]
RP INVOLVEMENT IN CHTD5, VARIANTS CHTD5 GLU-203 AND 208-TYR--ALA-397 DEL, AND
RP CHARACTERIZATION OF VARIANTS CHTD5 GLU-203 AND 208-TYR--ALA-397 DEL.
RX PubMed=24573614; DOI=10.3892/ijmm.2014.1674;
RA Huang R.T., Xue S., Xu Y.J., Zhou M., Yang Y.Q.;
RT "Somatic GATA5 mutations in sporadic tetralogy of Fallot.";
RL Int. J. Mol. Med. 33:1227-1235(2014).
RN [14]
RP INVOLVEMENT IN CHTD5, VARIANT CHTD5 ASP-240, CHARACTERIZATION OF VARIANT
RP CHTD5 ASP-240, AND FUNCTION.
RX PubMed=25543888; DOI=10.3892/ijmm.2014.2050;
RA Zhang X.L., Dai N., Tang K., Chen Y.Q., Chen W., Wang J., Zhao C.M.,
RA Yuan F., Qiu X.B., Qu X.K., Yang Y.Q., Xu Y.W.;
RT "GATA5 loss-of-function mutation in familial dilated cardiomyopathy.";
RL Int. J. Mol. Med. 35:763-770(2015).
CC -!- FUNCTION: Transcription factor required during cardiovascular
CC development (PubMed:23289003). Plays an important role in the
CC transcriptional program(s) that underlies smooth muscle cell diversity
CC (By similarity). Binds to the functionally important CEF-1 nuclear
CC protein binding site in the cardiac-specific slow/cardiac troponin C
CC transcriptional enhancer (PubMed:25543888).
CC {ECO:0000250|UniProtKB:P97489, ECO:0000269|PubMed:23289003,
CC ECO:0000269|PubMed:25543888}.
CC -!- INTERACTION:
CC Q9BWX5; Q03989: ARID5A; NbExp=3; IntAct=EBI-12132270, EBI-948603;
CC Q9BWX5; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12132270, EBI-3867333;
CC Q9BWX5; P84074: HPCA; NbExp=3; IntAct=EBI-12132270, EBI-12197079;
CC Q9BWX5; P37235: HPCAL1; NbExp=3; IntAct=EBI-12132270, EBI-749311;
CC Q9BWX5; Q9Y5V3: MAGED1; NbExp=3; IntAct=EBI-12132270, EBI-716006;
CC Q9BWX5; O15496: PLA2G10; NbExp=3; IntAct=EBI-12132270, EBI-726466;
CC Q9BWX5; P37231: PPARG; NbExp=3; IntAct=EBI-12132270, EBI-781384;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- DISEASE: Congenital heart defects, multiple types, 5 (CHTD5)
CC [MIM:617912]: A disorder characterized by congenital developmental
CC abnormalities involving structures of the heart. Common defects include
CC transposition of the great arteries, aortic stenosis, atrial septal
CC defect, ventricular septal defect, pulmonic stenosis, patent ductus
CC arteriosus, and tetralogy of Fallot. Some patients also have cardiac
CC arrhythmias, which may be due to the anatomic defect itself or to
CC surgical interventions. CHTD5 inheritance can be autosomal dominant or
CC recessive. {ECO:0000269|PubMed:22483626, ECO:0000269|PubMed:22641149,
CC ECO:0000269|PubMed:22961344, ECO:0000269|PubMed:23031282,
CC ECO:0000269|PubMed:23175127, ECO:0000269|PubMed:23289003,
CC ECO:0000269|PubMed:23295592, ECO:0000269|PubMed:24573614,
CC ECO:0000269|PubMed:24638895, ECO:0000269|PubMed:25543888}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH47790.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; HM015595; ADL14516.1; -; Genomic_DNA.
DR EMBL; AL499627; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75360.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75361.1; -; Genomic_DNA.
DR EMBL; BC047790; AAH47790.1; ALT_INIT; mRNA.
DR EMBL; BC117356; AAI17357.1; -; mRNA.
DR EMBL; BC117358; AAI17359.1; -; mRNA.
DR CCDS; CCDS13499.1; -.
DR RefSeq; NP_536721.1; NM_080473.4.
DR RefSeq; XP_006723762.1; XM_006723699.3.
DR AlphaFoldDB; Q9BWX5; -.
DR SMR; Q9BWX5; -.
DR BioGRID; 126640; 9.
DR IntAct; Q9BWX5; 7.
DR STRING; 9606.ENSP00000252997; -.
DR iPTMnet; Q9BWX5; -.
DR PhosphoSitePlus; Q9BWX5; -.
DR BioMuta; GATA5; -.
DR DMDM; 20138325; -.
DR jPOST; Q9BWX5; -.
DR MassIVE; Q9BWX5; -.
DR MaxQB; Q9BWX5; -.
DR PaxDb; Q9BWX5; -.
DR PeptideAtlas; Q9BWX5; -.
DR PRIDE; Q9BWX5; -.
DR ProteomicsDB; 79338; -.
DR Antibodypedia; 29533; 270 antibodies from 35 providers.
DR DNASU; 140628; -.
DR Ensembl; ENST00000252997.3; ENSP00000252997.2; ENSG00000130700.7.
DR GeneID; 140628; -.
DR KEGG; hsa:140628; -.
DR MANE-Select; ENST00000252997.3; ENSP00000252997.2; NM_080473.5; NP_536721.1.
DR UCSC; uc002ycx.1; human.
DR CTD; 140628; -.
DR DisGeNET; 140628; -.
DR GeneCards; GATA5; -.
DR HGNC; HGNC:15802; GATA5.
DR HPA; ENSG00000130700; Tissue enhanced (intestine, stomach, testis, urinary bladder).
DR MalaCards; GATA5; -.
DR MIM; 611496; gene.
DR MIM; 617912; phenotype.
DR neXtProt; NX_Q9BWX5; -.
DR OpenTargets; ENSG00000130700; -.
DR Orphanet; 334; Familial atrial fibrillation.
DR Orphanet; 402075; Familial bicuspid aortic valve.
DR Orphanet; 1480; NON RARE IN EUROPE: Ventricular septal defect.
DR Orphanet; 3303; Tetralogy of Fallot.
DR PharmGKB; PA28588; -.
DR VEuPathDB; HostDB:ENSG00000130700; -.
DR eggNOG; KOG1601; Eukaryota.
DR GeneTree; ENSGT00940000160139; -.
DR HOGENOM; CLU_027524_0_0_1; -.
DR InParanoid; Q9BWX5; -.
DR OMA; CEPGPQP; -.
DR OrthoDB; 807790at2759; -.
DR PhylomeDB; Q9BWX5; -.
DR TreeFam; TF315391; -.
DR PathwayCommons; Q9BWX5; -.
DR Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
DR SignaLink; Q9BWX5; -.
DR SIGNOR; Q9BWX5; -.
DR BioGRID-ORCS; 140628; 11 hits in 1091 CRISPR screens.
DR GeneWiki; GATA5; -.
DR GenomeRNAi; 140628; -.
DR Pharos; Q9BWX5; Tbio.
DR PRO; PR:Q9BWX5; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9BWX5; protein.
DR Bgee; ENSG00000130700; Expressed in ileal mucosa and 70 other tissues.
DR Genevisible; Q9BWX5; HS.
DR GO; GO:0000785; C:chromatin; ISS:BHF-UCL.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:BHF-UCL.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:MGI.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0003180; P:aortic valve morphogenesis; IMP:BHF-UCL.
DR GO; GO:0048738; P:cardiac muscle tissue development; IBA:GO_Central.
DR GO; GO:0045165; P:cell fate commitment; IBA:GO_Central.
DR GO; GO:0071773; P:cellular response to BMP stimulus; IEA:Ensembl.
DR GO; GO:0003274; P:endocardial cushion fusion; ISS:BHF-UCL.
DR GO; GO:0060575; P:intestinal epithelial cell differentiation; IDA:MGI.
DR GO; GO:0010614; P:negative regulation of cardiac muscle hypertrophy; IEA:Ensembl.
DR GO; GO:0010629; P:negative regulation of gene expression; ISS:BHF-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0062000; P:positive regulation of cardiac endothelial to mesenchymal transition; ISS:BHF-UCL.
DR GO; GO:0010628; P:positive regulation of gene expression; ISS:BHF-UCL.
DR GO; GO:0035481; P:positive regulation of Notch signaling pathway involved in heart induction; ISS:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR CDD; cd00202; ZnF_GATA; 2.
DR Gene3D; 3.30.50.10; -; 2.
DR InterPro; IPR008013; GATA_N.
DR InterPro; IPR016375; TF_GATA_4/5/6.
DR InterPro; IPR039355; Transcription_factor_GATA.
DR InterPro; IPR000679; Znf_GATA.
DR InterPro; IPR013088; Znf_NHR/GATA.
DR PANTHER; PTHR10071; PTHR10071; 1.
DR Pfam; PF00320; GATA; 2.
DR Pfam; PF05349; GATA-N; 1.
DR PIRSF; PIRSF003028; TF_GATA_4/5/6; 1.
DR PRINTS; PR00619; GATAZNFINGER.
DR SMART; SM00401; ZnF_GATA; 2.
DR PROSITE; PS00344; GATA_ZN_FINGER_1; 2.
DR PROSITE; PS50114; GATA_ZN_FINGER_2; 2.
PE 1: Evidence at protein level;
KW Activator; Disease variant; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..397
FT /note="Transcription factor GATA-5"
FT /id="PRO_0000083418"
FT ZN_FING 189..213
FT /note="GATA-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00094"
FT ZN_FING 243..267
FT /note="GATA-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00094"
FT REGION 48..116
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 281..356
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 300..330
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 3
FT /note="Q -> R (in dbSNP:rs113068438)"
FT /evidence="ECO:0000269|PubMed:22641149"
FT /id="VAR_073309"
FT VARIANT 16
FT /note="Y -> D (in CHTD5; decreased transcriptional
FT activity; dbSNP:rs1555897088)"
FT /evidence="ECO:0000269|PubMed:24638895"
FT /id="VAR_073310"
FT VARIANT 19
FT /note="S -> W (in dbSNP:rs200383755)"
FT /evidence="ECO:0000269|PubMed:22641149"
FT /id="VAR_073311"
FT VARIANT 67
FT /note="T -> P (in dbSNP:rs6142775)"
FT /evidence="ECO:0000269|PubMed:22641149"
FT /id="VAR_080604"
FT VARIANT 132
FT /note="R -> G (in CHTD5; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:23031282"
FT /id="VAR_080605"
FT VARIANT 138
FT /note="Y -> F (in CHTD5; decreased transcriptional
FT activity)"
FT /evidence="ECO:0000269|PubMed:23295592"
FT /id="VAR_073312"
FT VARIANT 142
FT /note="Y -> H (in CHTD5; unknown pathological significance;
FT dbSNP:rs111554140)"
FT /evidence="ECO:0000269|PubMed:22641149"
FT /id="VAR_073313"
FT VARIANT 166
FT /note="G -> S (in dbSNP:rs141950357)"
FT /evidence="ECO:0000269|PubMed:22641149"
FT /id="VAR_073314"
FT VARIANT 184
FT /note="G -> V (in CHTD5; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22483626"
FT /id="VAR_067699"
FT VARIANT 187
FT /note="R -> G (in CHTD5; decreased transcriptional
FT activity)"
FT /evidence="ECO:0000269|PubMed:23289003"
FT /id="VAR_073070"
FT VARIANT 190
FT /note="V -> A (in CHTD5; unknown pathological significance;
FT dbSNP:rs782051102)"
FT /evidence="ECO:0000269|PubMed:23031282"
FT /id="VAR_080606"
FT VARIANT 199
FT /note="L -> V (in CHTD5; decreased transcriptional
FT activity; dbSNP:rs1555896779)"
FT /evidence="ECO:0000269|PubMed:22961344"
FT /id="VAR_073071"
FT VARIANT 200
FT /note="W -> G (in CHTD5; decreased transcriptional
FT activity; dbSNP:rs1555896778)"
FT /evidence="ECO:0000269|PubMed:23175127"
FT /id="VAR_073072"
FT VARIANT 203
FT /note="D -> E (in CHTD5; unknown pathological significance;
FT decreased transcriptional activity; dbSNP:rs41305803)"
FT /evidence="ECO:0000269|PubMed:24573614"
FT /id="VAR_073315"
FT VARIANT 207
FT /note="H -> R (in CHTD5; decreased transcriptional
FT activity)"
FT /evidence="ECO:0000269|PubMed:23289003"
FT /id="VAR_073073"
FT VARIANT 208..397
FT /note="Missing (in CHTD5; loss of transcriptional
FT activity)"
FT /evidence="ECO:0000269|PubMed:24573614"
FT /id="VAR_080607"
FT VARIANT 210
FT /note="C -> G (in CHTD5; decreased transcriptional
FT activity; dbSNP:rs997414695)"
FT /evidence="ECO:0000269|PubMed:23295592"
FT /id="VAR_073316"
FT VARIANT 218
FT /note="K -> T (in CHTD5; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22483626"
FT /id="VAR_067700"
FT VARIANT 223
FT /note="N -> H (in CHTD5; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:23031282"
FT /id="VAR_080608"
FT VARIANT 240
FT /note="G -> D (in CHTD5; decreased transcriptional
FT activity)"
FT /evidence="ECO:0000269|PubMed:25543888"
FT /id="VAR_073317"
FT VARIANT 252
FT /note="T -> P (in CHTD5; decreased transcriptional
FT activity)"
FT /evidence="ECO:0000269|PubMed:24638895"
FT /id="VAR_073318"
FT VARIANT 266
FT /note="A -> P (in CHTD5; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:22483626"
FT /id="VAR_067701"
FT VARIANT 274
FT /note="H -> R (in CHTD5; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:23031282"
FT /id="VAR_080609"
FT CONFLICT 92
FT /note="A -> T (in Ref. 4; AAH47790)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 397 AA; 41299 MW; 5DFBA02085695C57 CRC64;
MYQSLALAAS PRQAAYADSG SFLHAPGAGS PMFVPPARVP SMLSYLSGCE PSPQPPELAA
RPGWAQTATA DSSAFGPGSP HPPAAHPPGA TAFPFAHSPS GPGSGGSAGG RDGSAYQGAL
LPREQFAAPL GRPVGTSYSA TYPAYVSPDV AQSWTAGPFD GSVLHGLPGR RPTFVSDFLE
EFPGEGRECV NCGALSTPLW RRDGTGHYLC NACGLYHKMN GVNRPLVRPQ KRLSSSRRAG
LCCTNCHTTN TTLWRRNSEG EPVCNACGLY MKLHGVPRPL AMKKESIQTR KRKPKTIAKA
RGSSGSTRNA SASPSAVAST DSSAATSKAK PSLASPVCPG PSMAPQASGQ EDDSLAPGHL
EFKFEPEDFA FPSTAPSPQA GLRGALRQEA WCALALA
