GON4L_HUMAN
ID GON4L_HUMAN Reviewed; 2241 AA.
AC Q3T8J9; B7ZBL4; Q14C93; Q3T8J8; Q5VYZ5; Q5W0D5; Q6AWA6; Q6P1Q6; Q7Z3L3;
AC Q8IY79; Q9BQI1; Q9HCG6;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2005, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=GON-4-like protein;
DE AltName: Full=GON-4 homolog;
GN Name=GON4L; Synonyms=GON4, KIAA1606;
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] (ISOFORMS 1 AND 2).
RA Kuryshev V.Y., Vorobyov E., Zink D., Schmitz J., Rozhdestvensky T.S.,
RA Muenstermann E., Ernst U., Wellenreuther R., Moosmayer P., Bechtel S.,
RA Schupp I., Horst J., Korn B., Poustka A., Wiemann S.;
RT "An anthropoid specific segmental duplication in the human chromosome 1q22:
RT structure and evolution of the affected genes.";
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT VAL-1418.
RC TISSUE=Amygdala, Esophageal carcinoma, and Retina;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1522-2241 (ISOFORM 3).
RC TISSUE=Duodenum, and Skin;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1146-2241 (ISOFORM 3).
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-346, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206; SER-346; SER-1268;
RP SER-1426; SER-1896; SER-1902; SER-1977 AND SER-2107, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Has transcriptional repressor activity, probably as part of a
CC complex with YY1, SIN3A AND HDAC1. Required for B cell lymphopoiesis.
CC {ECO:0000250|UniProtKB:Q9DB00}.
CC -!- SUBUNIT: Found in a complex with YY1, SIN3A and HDAC1.
CC {ECO:0000250|UniProtKB:Q9DB00}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00810}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=Isoform A;
CC IsoId=Q3T8J9-1; Sequence=Displayed;
CC Name=2; Synonyms=Isoform B;
CC IsoId=Q3T8J9-2; Sequence=VSP_016580, VSP_016581;
CC Name=3;
CC IsoId=Q3T8J9-3; Sequence=VSP_016582;
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD97829.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAH10549.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Wikipedia; Note=GON4L entry;
CC URL="https://en.wikipedia.org/wiki/GON4L";
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DR EMBL; AY335490; AAR01260.1; -; mRNA.
DR EMBL; AY335491; AAR01261.1; -; mRNA.
DR EMBL; AY335492; AAR01262.1; -; mRNA.
DR EMBL; AL136565; CAB66500.2; -; mRNA.
DR EMBL; BX537764; CAD97829.1; ALT_INIT; mRNA.
DR EMBL; BX648043; CAH10549.1; ALT_TERM; mRNA.
DR EMBL; AL139128; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL162734; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53029.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53030.1; -; Genomic_DNA.
DR EMBL; BC036740; AAH36740.2; -; mRNA.
DR EMBL; BC064933; AAH64933.1; -; mRNA.
DR EMBL; BC114629; AAI14630.1; -; mRNA.
DR EMBL; AB046826; BAB13432.1; -; mRNA.
DR CCDS; CCDS1121.1; -. [Q3T8J9-2]
DR CCDS; CCDS44242.1; -. [Q3T8J9-3]
DR CCDS; CCDS60296.1; -. [Q3T8J9-1]
DR RefSeq; NP_001269785.1; NM_001282856.1. [Q3T8J9-1]
DR RefSeq; NP_001269787.1; NM_001282858.1. [Q3T8J9-3]
DR RefSeq; NP_001269789.1; NM_001282860.1. [Q3T8J9-1]
DR RefSeq; NP_001269790.1; NM_001282861.1. [Q3T8J9-2]
DR RefSeq; NP_115668.4; NM_032292.5. [Q3T8J9-2]
DR RefSeq; XP_006711456.1; XM_006711393.3. [Q3T8J9-3]
DR RefSeq; XP_006711457.1; XM_006711394.3. [Q3T8J9-3]
DR AlphaFoldDB; Q3T8J9; -.
DR SMR; Q3T8J9; -.
DR BioGRID; 120206; 38.
DR IntAct; Q3T8J9; 13.
DR MINT; Q3T8J9; -.
DR STRING; 9606.ENSP00000357315; -.
DR GlyGen; Q3T8J9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q3T8J9; -.
DR MetOSite; Q3T8J9; -.
DR PhosphoSitePlus; Q3T8J9; -.
DR BioMuta; GON4L; -.
DR DMDM; 84029264; -.
DR EPD; Q3T8J9; -.
DR jPOST; Q3T8J9; -.
DR MassIVE; Q3T8J9; -.
DR MaxQB; Q3T8J9; -.
DR PaxDb; Q3T8J9; -.
DR PeptideAtlas; Q3T8J9; -.
DR PRIDE; Q3T8J9; -.
DR ProteomicsDB; 61875; -. [Q3T8J9-1]
DR ProteomicsDB; 61876; -. [Q3T8J9-2]
DR ProteomicsDB; 61877; -. [Q3T8J9-3]
DR Antibodypedia; 77187; 19 antibodies from 10 providers.
DR DNASU; 54856; -.
DR Ensembl; ENST00000271883.9; ENSP00000271883.5; ENSG00000116580.20. [Q3T8J9-3]
DR Ensembl; ENST00000361040.9; ENSP00000354322.5; ENSG00000116580.20. [Q3T8J9-2]
DR Ensembl; ENST00000368331.6; ENSP00000357315.1; ENSG00000116580.20. [Q3T8J9-1]
DR Ensembl; ENST00000437809.5; ENSP00000396117.1; ENSG00000116580.20. [Q3T8J9-3]
DR Ensembl; ENST00000615926.4; ENSP00000483100.1; ENSG00000116580.20. [Q3T8J9-1]
DR Ensembl; ENST00000622608.2; ENSP00000478593.2; ENSG00000116580.20. [Q3T8J9-2]
DR GeneID; 54856; -.
DR KEGG; hsa:54856; -.
DR MANE-Select; ENST00000368331.6; ENSP00000357315.1; NM_001282860.2; NP_001269789.1.
DR UCSC; uc001flz.4; human. [Q3T8J9-1]
DR CTD; 54856; -.
DR DisGeNET; 54856; -.
DR GeneCards; GON4L; -.
DR HGNC; HGNC:25973; GON4L.
DR HPA; ENSG00000116580; Low tissue specificity.
DR MIM; 610393; gene.
DR neXtProt; NX_Q3T8J9; -.
DR OpenTargets; ENSG00000116580; -.
DR PharmGKB; PA142671723; -.
DR VEuPathDB; HostDB:ENSG00000116580; -.
DR eggNOG; ENOG502QT2W; Eukaryota.
DR GeneTree; ENSGT00390000016256; -.
DR HOGENOM; CLU_000833_0_0_1; -.
DR InParanoid; Q3T8J9; -.
DR OMA; HRNYKDC; -.
DR PhylomeDB; Q3T8J9; -.
DR TreeFam; TF343327; -.
DR PathwayCommons; Q3T8J9; -.
DR SignaLink; Q3T8J9; -.
DR BioGRID-ORCS; 54856; 112 hits in 1080 CRISPR screens.
DR ChiTaRS; GON4L; human.
DR GeneWiki; GON4L; -.
DR GenomeRNAi; 54856; -.
DR Pharos; Q3T8J9; Tbio.
DR PRO; PR:Q3T8J9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q3T8J9; protein.
DR Bgee; ENSG00000116580; Expressed in sural nerve and 168 other tissues.
DR ExpressionAtlas; Q3T8J9; baseline and differential.
DR Genevisible; Q3T8J9; HS.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003712; F:transcription coregulator activity; IBA:GO_Central.
DR GO; GO:0003714; F:transcription corepressor activity; IEA:InterPro.
DR GO; GO:0030183; P:B cell differentiation; IEA:InterPro.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR Gene3D; 1.20.1160.11; -; 1.
DR InterPro; IPR033277; GON-4-like.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR003822; PAH.
DR InterPro; IPR036600; PAH_sf.
DR InterPro; IPR001005; SANT/Myb.
DR PANTHER; PTHR16088:SF11; PTHR16088:SF11; 1.
DR Pfam; PF02671; PAH; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR SUPFAM; SSF47762; SSF47762; 2.
DR PROSITE; PS50090; MYB_LIKE; 1.
DR PROSITE; PS51477; PAH; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Nucleus; Phosphoprotein; Reference proteome; Repeat;
KW Repressor; Transcription; Transcription regulation.
FT CHAIN 1..2241
FT /note="GON-4-like protein"
FT /id="PRO_0000197109"
FT DOMAIN 1624..1696
FT /note="PAH 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00810"
FT DOMAIN 1706..1777
FT /note="PAH 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00810"
FT DOMAIN 2148..2201
FT /note="Myb-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00133"
FT REGION 1..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 122..259
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 366..460
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 600..1339
FT /note="Required for interaction with YY1, SIN3A AND HDAC1,
FT and transcriptional repression activity"
FT /evidence="ECO:0000250|UniProtKB:Q9DB00"
FT REGION 1008..1031
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1111..1131
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1301..1320
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1356..1601
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1809..1960
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2002..2025
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2039..2149
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2208..2241
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 20..36
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 142..172
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 177..205
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 366..390
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 391..406
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1008..1028
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1111..1125
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1387..1420
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1429..1443
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1455..1479
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1513..1537
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1813..1846
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1880..1895
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1912..1931
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2009..2023
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2059..2095
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 206
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 346
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 775
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DB00"
FT MOD_RES 1268
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1426
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1896
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1902
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1977
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 2107
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1492..1529
FT /note="ETMEKLTWLASERRMSQEGESEEENSQEENSEPEEEEE -> VRAGEYSQVF
FT RGLSNMYHLLICHLLACCTMDSPKIICI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_016580"
FT VAR_SEQ 1530..2241
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_016581"
FT VAR_SEQ 1948
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10997877,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_016582"
FT VARIANT 150
FT /note="L -> F (in dbSNP:rs3738586)"
FT /id="VAR_056169"
FT VARIANT 416
FT /note="T -> A (in dbSNP:rs34939643)"
FT /id="VAR_056170"
FT VARIANT 1197
FT /note="S -> P (in dbSNP:rs676814)"
FT /id="VAR_056171"
FT VARIANT 1418
FT /note="M -> V (in dbSNP:rs2297775)"
FT /evidence="ECO:0000269|PubMed:11230166"
FT /id="VAR_024320"
FT VARIANT 1539
FT /note="Q -> E (in dbSNP:rs607790)"
FT /id="VAR_056172"
FT CONFLICT 433
FT /note="T -> A (in Ref. 1; AAR01262 and 2; CAD97829)"
FT /evidence="ECO:0000305"
FT CONFLICT 626
FT /note="T -> A (in Ref. 2; CAH10549)"
FT /evidence="ECO:0000305"
FT CONFLICT 988
FT /note="F -> S (in Ref. 1; AAR01262 and 2; CAD97829)"
FT /evidence="ECO:0000305"
FT CONFLICT 1150
FT /note="T -> S (in Ref. 2; CAH10549)"
FT /evidence="ECO:0000305"
FT CONFLICT 1299
FT /note="R -> G (in Ref. 2; CAH10549)"
FT /evidence="ECO:0000305"
FT CONFLICT 1382
FT /note="E -> G (in Ref. 1; AAR01262 and 2; CAD97829)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2241 AA; 248620 MW; 07959F5B5E832DC7 CRC64;
MLPCKKRRTT VTESLQHKGN QEENNVDLES AVKPESDQVK DLSSVSLSWD PSHGRVAGFE
VQSLQDAGNQ LGMEDTSLSS GMLTQNTNVP ILEGVDVAIS QGITLPSLES FHPLNIHIGK
GKLHATGSKR GKKMTLRPGP VTQEDRCDHL TLKEPFSGEP SEEVKEEGGK PQMNSEGEIP
SLPSGSQSAK PVSQPRKSTQ PDVCASPQEK PLRTLFHQPE EEIEDGGLFI PMEEQDNEES
EKRRKKKKGT KRKRDGRGQE GTLAYDLKLD DMLDRTLEDG AKQHNLTAVN VRNILHEVIT
NEHVVAMMKA AISETEDMPM FEPKMTRSKL KEVVEKGVVI PTWNISPIKK ANEIKPPQFV
DIHLEEDDSS DEEYQPDDEE EDETAEESLL ESDVESTASS PRGAKKSRLR QSSEMTETDE
ESGILSEAEK VTTPAIRHIS AEVVPMGPPP PPKPKQTRDS TFMEKLHAVD EELASSPVCM
DSFQPMDDSL IAFRTRSKMP LKDVPLGQLE AELQAPDITP DMYDPNTADD EDWKMWLGGL
MNDDVGNEDE ADDDDDPEYN FLEDLDEPDT EDFRTDRAVR ITKKEVNELM EELFETFQDE
MGFSNMEDDG PEEEECVAEP RPNFNTPQAL RFEEPLANLL NEQHRTVKEL FEQLKMKKSS
AKQLQEVEKV KPQSEKVHQT LILDPAQRKR LQQQMQQHVQ LLTQIHLLAT CNPNLNPEAT
TTRIFLKELG TFAQSSIALH HQYNPKFQTL FQPCNLMGAM QLIEDFSTHV SIDCSPHKTV
KKTANEFPCL PKQVAWILAT SKVFMYPELL PVCSLKAKNP QDKIVFTKAE DNLLALGLKH
FEGTEFPNPL ISKYLLTCKT AHQLTVRIKN LNMNRAPDNI IKFYKKTKQL PVLGKCCEEI
QPHQWKPPIE REEHRLPFWL KASLPSIQEE LRHMADGARE VGNMTGTTEI NSDRSLEKDN
LELGSESRYP LLLPKGVVLK LKPVATRFPR KAWRQKRSSV LKPLLIQPSP SLQPSFNPGK
TPARSTHSEA PPSKMVLRIP HPIQPATVLQ TVPGVPPLGV SGGESFESPA ALPAVPPEAR
TSFPLSESQT LLSSAPVPKV MLPSLAPSKF RKPYVRRRPS KRRGVKASPC MKPAPVIHHP
ASVIFTVPAT TVKIVSLGGG CNMIQPVNAA VAQSPQTIPI TTLLVNPTSF PCPLNQSLVA
SSVSPLIVSG NSVNLPIPST PEDKAHVNVD IACAVADGEN AFQGLEPKLE PQELSPLSAT
VFPKVEHSPG PPLADAECQE GLSENSACRW TVVKTEEGRQ ALEPLPQGIQ ESLNNPTPGD
LEEIVKMEPE EAREEISGSP ERDICDDIKV EHAVELDTGA PSEELSSAGE VTKQTVLQKE
EERSQPTKTP SSSQEPPDEG TSGTDVNKGS SKNALSSMDP EVRLSSPPGK PEDSSSVDGQ
SVGTPVGPET GGEKNGPEEE EEEDFDDLTQ DEEDEMSSAS EESVLSVPEL QETMEKLTWL
ASERRMSQEG ESEEENSQEE NSEPEEEEEE EAEGMESLQK EDEMTDEAVG DSAEKPPTFA
SPETAPEVET SRTPPGESIK AAGKGRNNHR ARNKRGSRAR ASKDTSKLLL LYDEDILERD
PLREQKDLAF AQAYLTRVRE ALQHIPGKYE DFLQVIYEFE SSTQRRTAVD LYKSLQILLQ
DWPQLLKDFA AFLLPEQALA CGLFEEQQAF EKSRKFLRQL EICFAENPSH HQKIIKVLQG
CADCLPQEIT ELKTQMWQLL KGHDHLQDEF SIFFDHLRPA ASRMGDFEEI NWTEEKEYEF
DGFEEVALPD VEEEEEPPKI PTASKNKRKK EIGVQNHDKE TEWPDGAKDC ACSCHEGGPD
SKLKKSKRRS CSHCSSKVCD SKSYKSKEPH ELVGSSPHRE ASPMPGAKEA GQGKDMMEEE
APEERESTEA TQSRTVRTTR KGEMPVSAGL AVGSTLPSPR EVTVTERLLL DGPPPHSPET
PQFPPTTGAV LYTVKRNQVG PEVRSCPKAS PRLQKEREGQ KAVSESEALM LVWDASETEK
LPGTVEPPAS FLSPVSSKTR DAGRRHVSGK PDTQERWLPS SRARVKTRDR TCPVHESPSG
IDTSETSPKA PRGGLAKDSG TQAKGPEGEQ QPKAAEATVC ANNSKVSSTG EKVVLWTREA
DRVILTMCQE QGAQPQTFNI ISQQLGNKTP AEVSHRFREL MQLFHTACEA SSEDEDDATS
TSNADQLSDH GDLLSEEELD E
