KLF7_HUMAN
ID KLF7_HUMAN Reviewed; 302 AA.
AC O75840; B2RB03; B7Z4F7; C9JF04; E7EWH1; L0R4P2; Q7Z3H8; Q96E51;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Krueppel-like factor 7;
DE AltName: Full=Ubiquitous krueppel-like factor {ECO:0000303|PubMed:9774444};
GN Name=KLF7 {ECO:0000312|HGNC:HGNC:6350};
GN Synonyms=UKLF {ECO:0000303|PubMed:9774444};
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] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR
RP LOCATION, AND FUNCTION.
RC TISSUE=Brain;
RX PubMed=9774444; DOI=10.1074/jbc.273.43.28229;
RA Matsumoto N., Laub F., Aldabe R., Zhang W., Ramirez F., Yoshida T.,
RA Terada M.;
RT "Cloning the cDNA for a new human zinc finger protein defines a group of
RT closely related Krueppel-like transcription factors.";
RL J. Biol. Chem. 273:28229-28237(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6), AND ALTERNATIVE SPLICING.
RX PubMed=23134681; DOI=10.1096/fj.12-220319;
RA Camacho-Vanegas O., Till J., Miranda-Lorenzo I., Ozturk B., Camacho S.C.,
RA Martignetti J.A.;
RT "Shaking the family tree: Identification of novel and biologically active
RT alternatively spliced isoforms across the KLF family of transcription
RT factors.";
RL FASEB J. 27:432-436(2013).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Heart;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P.,
RA Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y.,
RA LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
RC TISSUE=Placenta;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [7]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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 [9]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=16339272; DOI=10.1210/me.2005-0138;
RA Kawamura Y., Tanaka Y., Kawamori R., Maeda S.;
RT "Overexpression of Kruppel-like factor 7 regulates adipocytokine gene
RT expressions in human adipocytes and inhibits glucose-induced insulin
RT secretion in pancreatic beta-cell line.";
RL Mol. Endocrinol. 20:844-856(2006).
RN [10]
RP TISSUE SPECIFICITY, AND FUNCTION.
RX PubMed=28916725; DOI=10.1074/jbc.m117.793117;
RA Klein R.H., Hu W., Kashgari G., Lin Z., Nguyen T., Doan M., Andersen B.;
RT "Characterization of enhancers and the role of the transcription factor
RT KLF7 in regulating corneal epithelial differentiation.";
RL J. Biol. Chem. 292:18937-18950(2017).
RN [11]
RP INACTIVATION OF 9AATAD MOTIF.
RX PubMed=31375868; DOI=10.1007/s00018-019-03251-w;
RA Piskacek M., Havelka M., Jendruchova K., Knight A., Keegan L.P.;
RT "The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with
RT valines and intron reservoirs.";
RL Cell. Mol. Life Sci. 77:1793-1810(2020).
RN [12]
RP VARIANTS MET-137; SER-139 AND ASN-264.
RX PubMed=29251763; DOI=10.1111/cge.13198;
RA Powis Z., Petrik I., Cohen J.S., Escolar D., Burton J.,
RA van Ravenswaaij-Arts C.M.A., Sival D.A., Stegmann A.P.A., Kleefstra T.,
RA Pfundt R., Chikarmane R., Begtrup A., Huether R., Tang S., Shinde D.N.;
RT "De novo variants in KLF7 are a potential novel cause of developmental
RT delay/intellectual disability, neuromuscular and psychiatric symptoms.";
RL Clin. Genet. 93:1030-1038(2018).
CC -!- FUNCTION: Transcriptional factor (PubMed:9774444, PubMed:16339272).
CC Plays a critical role in neuronal morphogenesis and survival of sensory
CC neurons (By similarity). Represses the corneal epithelium
CC differentiation (PubMed:28916725). Acts also as a metabolic regulator,
CC by modulating insulin sensitivity in pancreatic beta cells and skeletal
CC muscle cells (PubMed:16339272). Inhibits transcriptional inducers of
CC adipogenesis and has a repressive role in the expression of several
CC adipokines, including leptin (PubMed:16339272).
CC {ECO:0000250|UniProtKB:Q99JB0, ECO:0000269|PubMed:16339272,
CC ECO:0000269|PubMed:28916725, ECO:0000269|PubMed:9774444}.
CC -!- SUBUNIT: Interacts with FBXO38. {ECO:0000250|UniProtKB:Q99JB0}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9774444}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=O75840-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75840-2; Sequence=VSP_047030;
CC Name=3;
CC IsoId=O75840-3; Sequence=VSP_047032;
CC Name=4;
CC IsoId=O75840-4; Sequence=VSP_047031;
CC Name=5;
CC IsoId=O75840-5; Sequence=VSP_047478;
CC Name=6;
CC IsoId=O75840-6; Sequence=VSP_047477, VSP_047479;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16339272,
CC ECO:0000269|PubMed:9774444}.
CC -!- DOMAIN: The acidic N-terminal part may favor interaction with the basic
CC domain of transcription factors. {ECO:0000269|PubMed:9774444}.
CC -!- DOMAIN: The 9aaTAD motif is a transactivation domain present in a large
CC number of yeast and animal transcription factors. In KLF7, the motif is
CC inactive. {ECO:0000269|PubMed:31375868}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB015132; BAA33521.1; -; mRNA.
DR EMBL; HF546205; CCO02791.1; -; mRNA.
DR EMBL; HF546206; CCO02792.1; -; mRNA.
DR EMBL; BX537890; CAD97885.1; -; mRNA.
DR EMBL; CR542112; CAG46909.1; -; mRNA.
DR EMBL; AK297312; BAH12543.1; -; mRNA.
DR EMBL; AK314439; BAG37050.1; -; mRNA.
DR EMBL; AC007879; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008062; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471063; EAW70400.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70402.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70403.1; -; Genomic_DNA.
DR EMBL; BC012919; AAH12919.1; -; mRNA.
DR CCDS; CCDS2373.1; -. [O75840-1]
DR CCDS; CCDS59438.1; -. [O75840-4]
DR CCDS; CCDS59439.1; -. [O75840-3]
DR CCDS; CCDS59440.1; -. [O75840-2]
DR RefSeq; NP_001257871.1; NM_001270942.1. [O75840-3]
DR RefSeq; NP_001257872.1; NM_001270943.1. [O75840-2]
DR RefSeq; NP_001257873.1; NM_001270944.1. [O75840-4]
DR RefSeq; NP_003700.1; NM_003709.3. [O75840-1]
DR RefSeq; XP_016860650.1; XM_017005161.1. [O75840-1]
DR RefSeq; XP_016860653.1; XM_017005164.1. [O75840-3]
DR AlphaFoldDB; O75840; -.
DR SMR; O75840; -.
DR BioGRID; 114168; 4.
DR STRING; 9606.ENSP00000309570; -.
DR GlyGen; O75840; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O75840; -.
DR PhosphoSitePlus; O75840; -.
DR BioMuta; KLF7; -.
DR jPOST; O75840; -.
DR MassIVE; O75840; -.
DR MaxQB; O75840; -.
DR PaxDb; O75840; -.
DR PeptideAtlas; O75840; -.
DR PRIDE; O75840; -.
DR ProteomicsDB; 18843; -.
DR ProteomicsDB; 50223; -. [O75840-1]
DR ProteomicsDB; 6598; -.
DR ProteomicsDB; 69052; -.
DR Antibodypedia; 34186; 258 antibodies from 28 providers.
DR DNASU; 8609; -.
DR Ensembl; ENST00000309446.11; ENSP00000309570.6; ENSG00000118263.15. [O75840-1]
DR Ensembl; ENST00000412414.6; ENSP00000403284.2; ENSG00000118263.15. [O75840-4]
DR Ensembl; ENST00000421199.5; ENSP00000387510.1; ENSG00000118263.15. [O75840-2]
DR Ensembl; ENST00000423015.5; ENSP00000398572.1; ENSG00000118263.15. [O75840-3]
DR Ensembl; ENST00000458272.1; ENSP00000393268.1; ENSG00000118263.15. [O75840-5]
DR GeneID; 8609; -.
DR KEGG; hsa:8609; -.
DR MANE-Select; ENST00000309446.11; ENSP00000309570.6; NM_003709.4; NP_003700.1.
DR UCSC; uc002vbz.3; human. [O75840-1]
DR CTD; 8609; -.
DR DisGeNET; 8609; -.
DR GeneCards; KLF7; -.
DR HGNC; HGNC:6350; KLF7.
DR HPA; ENSG00000118263; Low tissue specificity.
DR MIM; 604865; gene.
DR neXtProt; NX_O75840; -.
DR OpenTargets; ENSG00000118263; -.
DR PharmGKB; PA30140; -.
DR VEuPathDB; HostDB:ENSG00000118263; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000155235; -.
DR HOGENOM; CLU_002678_33_4_1; -.
DR InParanoid; O75840; -.
DR OMA; FLHATPH; -.
DR OrthoDB; 982312at2759; -.
DR PhylomeDB; O75840; -.
DR TreeFam; TF350556; -.
DR PathwayCommons; O75840; -.
DR SignaLink; O75840; -.
DR SIGNOR; O75840; -.
DR BioGRID-ORCS; 8609; 86 hits in 1093 CRISPR screens.
DR ChiTaRS; KLF7; human.
DR GeneWiki; KLF7; -.
DR GenomeRNAi; 8609; -.
DR Pharos; O75840; Tbio.
DR PRO; PR:O75840; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; O75840; protein.
DR Bgee; ENSG00000118263; Expressed in buccal mucosa cell and 203 other tissues.
DR ExpressionAtlas; O75840; baseline and differential.
DR Genevisible; O75840; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0008270; F:zinc ion binding; TAS:ProtInc.
DR GO; GO:0007411; P:axon guidance; ISS:UniProtKB.
DR GO; GO:0007409; P:axonogenesis; ISS:UniProtKB.
DR GO; GO:0048813; P:dendrite morphogenesis; ISS:UniProtKB.
DR GO; GO:0042593; P:glucose homeostasis; IMP:UniProtKB.
DR GO; GO:1904178; P:negative regulation of adipose tissue development; IMP:UniProtKB.
DR GO; GO:0061179; P:negative regulation of insulin secretion involved in cellular response to glucose stimulus; IMP:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IMP:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0045604; P:regulation of epidermal cell differentiation; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 3.
DR SMART; SM00355; ZnF_C2H2; 3.
DR SUPFAM; SSF57667; SSF57667; 2.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; Disease variant; DNA-binding;
KW Metal-binding; Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..302
FT /note="Krueppel-like factor 7"
FT /id="PRO_0000047174"
FT ZN_FING 219..243
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 249..273
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 279..301
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT MOTIF 93..101
FT /note="9aaTAD; inactive"
FT /evidence="ECO:0000269|PubMed:31375868"
FT MOTIF 215..220
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..34
FT /note="MDVLASYSIFQELQLVHDTGYFSALPSLEETWQQ -> M (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_047030"
FT VAR_SEQ 1..34
FT /note="MDVLASYSIFQELQLVHDTGYFSALPSLEETWQQ -> MFPSWP (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047031"
FT VAR_SEQ 35..87
FT /note="TCLELERYLQTEPRRISETFGEDLDCFLHASPPPCIEESFRRLDPLLLPVEA
FT A -> VRSLISAHGRDVSGVLHEAMSSRGTTGNTQVQSPSNATTATGVFPGLTILPST
FT (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:23134681"
FT /id="VSP_047477"
FT VAR_SEQ 55..244
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:23134681"
FT /id="VSP_047478"
FT VAR_SEQ 88..302
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:23134681"
FT /id="VSP_047479"
FT VAR_SEQ 179..302
FT /note="GGVATAAAAVTAAGAVKSGQSDSDQGGLGAEACPENKKRVHRCQFNGCRKVY
FT TKSSHLKAHQRTHTGEKPYKCSWEGCEWRFARSDELTRHYRKHTGAKPFKCNHCDRCFS
FT RSDHLALHMKRHI -> RSLISAHGRDVSGVLHEAMSSRGTTGNTQVQSPSNATTATGV
FT FPGLTILPST (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_047032"
FT VARIANT 137
FT /note="T -> M (found in two patients with developmental
FT delay/intellectual disability, neuromuscular and
FT psychiatric symptoms; unknown pathological significance;
FT dbSNP:rs1276619385)"
FT /evidence="ECO:0000269|PubMed:29251763"
FT /id="VAR_081574"
FT VARIANT 139
FT /note="P -> S (found in a patient with developmental delay/
FT intellectual disability, neuromuscular and psychiatric
FT symptoms; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:29251763"
FT /id="VAR_081575"
FT VARIANT 264
FT /note="D -> N (found in a patient with developmental delay/
FT intellectual disability, neuromuscular and psychiatric
FT symptoms; unknown pathological significance;
FT dbSNP:rs1057518995)"
FT /evidence="ECO:0000269|PubMed:29251763"
FT /id="VAR_081576"
SQ SEQUENCE 302 AA; 33362 MW; 95141CE3A42C5774 CRC64;
MDVLASYSIF QELQLVHDTG YFSALPSLEE TWQQTCLELE RYLQTEPRRI SETFGEDLDC
FLHASPPPCI EESFRRLDPL LLPVEAAICE KSSAVDILLS RDKLLSETCL SLQPASSSLD
SYTAVNQAQL NAVTSLTPPS SPELSRHLVK TSQTLSAVDG TVTLKLVAKK AALSSVKVGG
VATAAAAVTA AGAVKSGQSD SDQGGLGAEA CPENKKRVHR CQFNGCRKVY TKSSHLKAHQ
RTHTGEKPYK CSWEGCEWRF ARSDELTRHY RKHTGAKPFK CNHCDRCFSR SDHLALHMKR
HI
