CFA43_HUMAN
ID CFA43_HUMAN Reviewed; 1665 AA.
AC Q8NDM7; Q8N9Z8; Q8NE17; Q9H085; Q9H5W3;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Cilia- and flagella-associated protein 43 {ECO:0000312|HGNC:HGNC:26684};
DE AltName: Full=WD repeat-containing protein 96 {ECO:0000312|HGNC:HGNC:26684};
GN Name=CFAP43 {ECO:0000312|HGNC:HGNC:26684};
GN Synonyms=C10orf79 {ECO:0000312|HGNC:HGNC:26684},
GN WDR96 {ECO:0000312|HGNC:HGNC:26684};
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), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 641-1665 (ISOFORM 2).
RC TISSUE=Testis;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1153-1665 (ISOFORM 1).
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 [6]
RP VARIANT THR-393.
RX PubMed=25676728; DOI=10.1002/humu.22764;
RA Jonsson F., Bystroem B., Davidson A.E., Backman L.J., Kellgren T.G.,
RA Tuft S.J., Koskela T., Ryden P., Sandgren O., Danielson P.,
RA Hardcastle A.J., Golovleva I.;
RT "Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial
RT recurrent erosion dystrophy (ERED).";
RL Hum. Mutat. 36:463-473(2015).
RN [7]
RP INVOLVEMENT IN SPGF19, AND VARIANTS SPGF19 TRP-85; TYR-129;
RP 934-GLU--MET-1665 DEL AND 1378-ARG--MET-1665 DEL.
RX PubMed=28552195; DOI=10.1016/j.ajhg.2017.04.012;
RA Tang S., Wang X., Li W., Yang X., Li Z., Liu W., Li C., Zhu Z., Wang L.,
RA Wang J., Zhang L., Sun X., Zhi E., Wang H., Li H., Jin L., Luo Y., Wang J.,
RA Yang S., Zhang F.;
RT "Biallelic mutations in CFAP43 and CFAP44 cause male infertility with
RT multiple morphological abnormalities of the sperm flagella.";
RL Am. J. Hum. Genet. 100:854-864(2017).
RN [8]
RP INVOLVEMENT IN SPGF19, VARIANTS SPGF19 ALA-347; 886-TRP--GLU-1165 DEL;
RP 894-ARG--MET-1665 DEL AND 1118-ARG--MET-1665 DEL, AND TISSUE SPECIFICITY.
RX PubMed=29449551; DOI=10.1038/s41467-017-02792-7;
RA Coutton C., Vargas A.S., Amiri-Yekta A., Kherraf Z.E., Ben Mustapha S.F.,
RA Le Tanno P., Wambergue-Legrand C., Karaouzene T., Martinez G., Crouzy S.,
RA Daneshipour A., Hosseini S.H., Mitchell V., Halouani L., Marrakchi O.,
RA Makni M., Latrous H., Kharouf M., Deleuze J.F., Boland A., Hennebicq S.,
RA Satre V., Jouk P.S., Thierry-Mieg N., Conne B., Dacheux D., Landrein N.,
RA Schmitt A., Stouvenel L., Lores P., El Khouri E., Bottari S.P., Faure J.,
RA Wolf J.P., Pernet-Gallay K., Escoffier J., Gourabi H., Robinson D.R.,
RA Nef S., Dulioust E., Zouari R., Bonhivers M., Toure A., Arnoult C.,
RA Ray P.F.;
RT "Mutations in CFAP43 and CFAP44 cause male infertility and flagellum
RT defects in Trypanosoma and human.";
RL Nat. Commun. 9:686-686(2018).
RN [9]
RP INVOLVEMENT IN HYDNP1, AND VARIANT HYDNP1 1502-TRP--MET-1665 DEL.
RX PubMed=31004071; DOI=10.1212/wnl.0000000000007505;
RA Morimoto Y., Yoshida S., Kinoshita A., Satoh C., Mishima H., Yamaguchi N.,
RA Matsuda K., Sakaguchi M., Tanaka T., Komohara Y., Imamura A., Ozawa H.,
RA Nakashima M., Kurotaki N., Kishino T., Yoshiura K.I., Ono S.;
RT "Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with
RT ciliary abnormalities.";
RL Neurology 92:2364-2374(2019).
CC -!- FUNCTION: Flagellar protein involved in sperm flagellum axoneme
CC organization and function (By similarity). Involved in the regulation
CC of the beating frequency of motile cilia on the epithelial cells of the
CC respiratory tract (By similarity). {ECO:0000250|UniProtKB:E9Q7R9}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:A8JAF2}. Cytoplasm, cytoskeleton, flagellum
CC axoneme {ECO:0000250|UniProtKB:Q57WH1}. Cytoplasm, cytoskeleton, cilium
CC axoneme {ECO:0000250|UniProtKB:E9Q7R9}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8NDM7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDM7-2; Sequence=VSP_029374;
CC Name=3;
CC IsoId=Q8NDM7-3; Sequence=VSP_029372, VSP_029373;
CC Name=4;
CC IsoId=Q8NDM7-4; Sequence=VSP_029371;
CC Name=5;
CC IsoId=Q8NDM7-5; Sequence=VSP_029369, VSP_029370;
CC -!- TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:29449551}.
CC -!- DISEASE: Spermatogenic failure 19 (SPGF19) [MIM:617592]: An infertility
CC disorder caused by spermatogenesis defects and characterized by
CC abnormally shaped spermatozoa in the semen of affected individuals.
CC SPGF19 patients have spermatozoa with absent, short, coiled, bent,
CC and/or irregular-caliber flagella, which impair sperm motility.
CC {ECO:0000269|PubMed:28552195, ECO:0000269|PubMed:29449551}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Hydrocephalus, normal pressure, 1 (HYDNP1) [MIM:236690]: An
CC autosomal dominant neurologic disorder characterized by a slowly
CC progressive gait disorder, urinary incontinence, progressive
CC intellectual decline, and ventricular enlargement on brain imaging.
CC Cerebrospinal fluid pressure tends to be in the high normal range.
CC {ECO:0000269|PubMed:31004071}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the CFAP43 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04133.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAB66835.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL136901; CAB66835.1; ALT_FRAME; mRNA.
DR EMBL; AL833836; CAD38696.1; -; mRNA.
DR EMBL; AK026597; BAB15506.1; -; mRNA.
DR EMBL; AK093325; BAC04133.1; ALT_INIT; mRNA.
DR EMBL; AL139341; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL357336; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49605.1; -; Genomic_DNA.
DR EMBL; BC036647; AAH36647.2; -; mRNA.
DR CCDS; CCDS31281.1; -. [Q8NDM7-1]
DR RefSeq; NP_079421.5; NM_025145.6. [Q8NDM7-1]
DR RefSeq; XP_016872173.1; XM_017016684.1.
DR AlphaFoldDB; Q8NDM7; -.
DR BioGRID; 123184; 5.
DR IntAct; Q8NDM7; 1.
DR STRING; 9606.ENSP00000349568; -.
DR iPTMnet; Q8NDM7; -.
DR PhosphoSitePlus; Q8NDM7; -.
DR BioMuta; CFAP43; -.
DR DMDM; 296439402; -.
DR EPD; Q8NDM7; -.
DR jPOST; Q8NDM7; -.
DR MassIVE; Q8NDM7; -.
DR PaxDb; Q8NDM7; -.
DR PeptideAtlas; Q8NDM7; -.
DR PRIDE; Q8NDM7; -.
DR ProteomicsDB; 73039; -. [Q8NDM7-1]
DR ProteomicsDB; 73040; -. [Q8NDM7-2]
DR ProteomicsDB; 73041; -. [Q8NDM7-3]
DR ProteomicsDB; 73042; -. [Q8NDM7-4]
DR ProteomicsDB; 73043; -. [Q8NDM7-5]
DR Antibodypedia; 77712; 4 antibodies from 4 providers.
DR DNASU; 80217; -.
DR Ensembl; ENST00000357060.8; ENSP00000349568.3; ENSG00000197748.13. [Q8NDM7-1]
DR GeneID; 80217; -.
DR KEGG; hsa:80217; -.
DR MANE-Select; ENST00000357060.8; ENSP00000349568.3; NM_025145.7; NP_079421.5.
DR UCSC; uc001kxw.3; human. [Q8NDM7-1]
DR CTD; 80217; -.
DR DisGeNET; 80217; -.
DR GeneCards; CFAP43; -.
DR HGNC; HGNC:26684; CFAP43.
DR HPA; ENSG00000197748; Group enriched (brain, choroid plexus, fallopian tube, testis).
DR MalaCards; CFAP43; -.
DR MIM; 236690; phenotype.
DR MIM; 617558; gene.
DR MIM; 617592; phenotype.
DR neXtProt; NX_Q8NDM7; -.
DR OpenTargets; ENSG00000197748; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR PharmGKB; PA134981723; -.
DR VEuPathDB; HostDB:ENSG00000197748; -.
DR eggNOG; ENOG502QQ39; Eukaryota.
DR GeneTree; ENSGT00530000064714; -.
DR InParanoid; Q8NDM7; -.
DR OMA; LLNMDQF; -.
DR OrthoDB; 555110at2759; -.
DR PhylomeDB; Q8NDM7; -.
DR TreeFam; TF326434; -.
DR PathwayCommons; Q8NDM7; -.
DR SignaLink; Q8NDM7; -.
DR BioGRID-ORCS; 80217; 10 hits in 1039 CRISPR screens.
DR ChiTaRS; CFAP43; human.
DR GenomeRNAi; 80217; -.
DR Pharos; Q8NDM7; Tbio.
DR PRO; PR:Q8NDM7; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8NDM7; protein.
DR Bgee; ENSG00000197748; Expressed in right uterine tube and 122 other tissues.
DR ExpressionAtlas; Q8NDM7; baseline and differential.
DR Genevisible; Q8NDM7; HS.
DR GO; GO:0097729; C:9+2 motile cilium; IEA:Ensembl.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0007420; P:brain development; IEA:Ensembl.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0120197; P:mucociliary clearance; IEA:Ensembl.
DR GO; GO:0003356; P:regulation of cilium beat frequency; ISS:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR039692; CFAP43.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR14885:SF1; PTHR14885:SF1; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Disease variant; Flagellum; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1665
FT /note="Cilia- and flagella-associated protein 43"
FT /id="PRO_0000310989"
FT REPEAT 108..149
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 152..191
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 250..290
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REPEAT 299..338
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 342..381
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 385..425
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT REPEAT 427..469
FT /note="WD 7"
FT /evidence="ECO:0000255"
FT REPEAT 472..511
FT /note="WD 8"
FT /evidence="ECO:0000255"
FT REPEAT 680..721
FT /note="WD 9"
FT /evidence="ECO:0000255"
FT COILED 812..869
FT /evidence="ECO:0000255"
FT COILED 910..957
FT /evidence="ECO:0000255"
FT COILED 1154..1207
FT /evidence="ECO:0000255"
FT COILED 1378..1429
FT /evidence="ECO:0000255"
FT VAR_SEQ 366..372
FT /note="GSVYIYT -> VCWMVIS (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029369"
FT VAR_SEQ 373..1665
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029370"
FT VAR_SEQ 482..1665
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_029371"
FT VAR_SEQ 937..939
FT /note="LRK -> VLF (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029372"
FT VAR_SEQ 940..1665
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029373"
FT VAR_SEQ 1256..1284
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_029374"
FT VARIANT 85
FT /note="R -> W (in SPGF19; unknown pathological
FT significance; dbSNP:rs376788209)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080878"
FT VARIANT 129
FT /note="S -> Y (in SPGF19; unknown pathological
FT significance; dbSNP:rs1131692266)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080879"
FT VARIANT 347
FT /note="V -> A (in SPGF19; unknown pathological
FT significance; dbSNP:rs147356105)"
FT /evidence="ECO:0000269|PubMed:29449551"
FT /id="VAR_080880"
FT VARIANT 393
FT /note="I -> T (in dbSNP:rs10883979)"
FT /evidence="ECO:0000269|PubMed:25676728"
FT /id="VAR_037130"
FT VARIANT 616
FT /note="L -> F (in dbSNP:rs35901897)"
FT /id="VAR_037131"
FT VARIANT 634
FT /note="V -> I (in dbSNP:rs17116635)"
FT /id="VAR_037132"
FT VARIANT 835
FT /note="A -> S (in dbSNP:rs12262825)"
FT /id="VAR_037133"
FT VARIANT 886..1165
FT /note="Missing (in SPGF19)"
FT /evidence="ECO:0000269|PubMed:29449551"
FT /id="VAR_080881"
FT VARIANT 894..1665
FT /note="Missing (in SPGF19)"
FT /evidence="ECO:0000269|PubMed:29449551"
FT /id="VAR_080882"
FT VARIANT 934..1665
FT /note="Missing (in SPGF19)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080883"
FT VARIANT 1118..1665
FT /note="Missing (in SPGF19)"
FT /evidence="ECO:0000269|PubMed:29449551"
FT /id="VAR_080884"
FT VARIANT 1378..1665
FT /note="Missing (in SPGF19)"
FT /evidence="ECO:0000269|PubMed:28552195"
FT /id="VAR_080885"
FT VARIANT 1502..1665
FT /note="Missing (in HYDNP1)"
FT /evidence="ECO:0000269|PubMed:31004071"
FT /id="VAR_083523"
FT CONFLICT 159
FT /note="Q -> E (in Ref. 2; BAB15506)"
FT /evidence="ECO:0000305"
FT CONFLICT 298
FT /note="L -> LE (in Ref. 1; CAB66835, 2; BAB15506, 4;
FT EAW49605 and 5; AAH36647)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1665 AA; 191984 MW; 81386403AF5B07AC CRC64;
MAQGRERDEG PHSAGGASLS VRWVQGFPKQ NVHFVNDNTI CYPCGNYVIF INIETKKKTV
LQCSNGIVGV MATNIPCEVV AFSDRKLKPL IYVYSFPGLT RRTKLKGNIL LDYTLLSFSY
CGTYLASYSS LPEFELALWN WESSIILCKK SQPGMDVNQM SFNPMNWRQL CLSSPSTVSV
WTIERSNQEH CFRARSVKLP LEDGSFFNET DVVFPQSLPK DLIYGPVLPL SAIAGLVGKE
AETFRPKDDL YPLLHPTMHC WTPTSDLYIG CEEGHLLMIN GDTLQVTVLN KIEEESPLDR
RNFISPVTLV YQKEGVLASG IDGFVYSFII KDRSYMIEDF LEIERPVEHM TFSPNYTVLL
IQTDKGSVYI YTFGKEPTLN KVLDACDGKF QAIDFITPGT QYFMTLTYSG EICVWWLEDC
ACVSKIYLNT LATVLACCPS SLSAAVGTED GSVYFISVYD KESPQVVHKA FLSESSVQHV
VYDQQGIFLL VGTAEGKVFI INANSSSSFQ IIGFTEVAKD ILQISTVSLL ETDIVEVMVL
SSLPEAGRSR LEMFTLPTLL PQVSTTFADE RGRLKDEIIH KYLYELEHAL SSAVLGFQSN
QIYGFCSQVP YICSYLLPEE EHTGIYILKP YKKVQSRQYG PGLLYLSSHG LWLITIAKCG
ILCIRDVYTL ETFAWCRSHS HQGHGIQSMR ISMDGQNILV NGRDDGTLVY LKWKRFGGHL
ASEILDYYQK LLISLSSAMD KENHYLSTTP KVSVDLGSDS EHTKQKASTD LSQDELVLTD
VKKEIPWIQQ KSQEAIKKEV NLFSKKRKEI KQGIKSLSKT ILNMMEENDK LENIAKLDQQ
EFGLDLEELE RLHDESQEEV AKMIKDVEMH NLAKSYLAEL IKEECWNSMA VKGRALKCFH
IPCVVENFPM KARTVEELKE LERVLQQKKI EAECLKLRKE IVEAQSGVKL IKQRHEEDDE
EEEEEDKTVK YSNLPNYLLG SLSTDFGVDT SLLSSQLELH SREEKINQII LLKDIIYKVK
TVFNNEFDAA YKQKEFEIAR VKERNVRIRE IILDLELEEA VWQPEFEDCE KPERTLVVQD
EEITAHKHIK PWHKAKELIV NHEKEHWLLI QDASTRLRAL MDMMGGVLEV KKEDILRMVI
PQPAFMAKPD AVWTEEERKQ FKDYEKKVKE LNEERDKYRK SLEAELKKLQ NSIQESTQAF
DEHLKRLFER RVKAEMVTNQ EELKISNLAF SLLLDEELSS REKFLNNYLT RKQHEKSQTS
EAVRKSREDL DVCKEHYDNL LAEDKVMDRS FKKEFSEIPG HQVDILYKLF KRRPRISKQK
THSETTSVVP FGELPGSGKL NKDAFAQLMK AMDELDNISN MPEGLDPLVW NHFCMTRRAK
VENEQKVKQK AADLLEMATF LQKRVEEEEK VQQEIERVFH ELILLQEEKV RFQLNLTIQI
LLKQGQVELE NFQLVLEYSD AILINKNIIE DLNSVIRTQG QKKVASMMES KDVHKRILQI
EWEHKKMEME REDLNQKAWD IQMLFFSRDR QKYLNEPNYE ALISIQIGIM EQTIAVLDKM
HKKNVENCKK LLKKLGKFSN QKDIANYALS CNLREELVAV SERKDICNAM GSKLTCEKIV
KERYENMMQQ QKLTNISKQQ AEQISILQTE VERLRMKTFP ALVQM
