ID   ABCAD_HUMAN             Reviewed;        5058 AA.
AC   Q86UQ4; K9LC76; K9LC79; K9LCX7; K9LDK8; K9LDY4; Q6ZTT7; Q86WI2; Q8N248;
DT   17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   05-APR-2011, sequence version 3.
DT   27-MAR-2024, entry version 152.
DE   RecName: Full=ATP-binding cassette sub-family A member 13 {ECO:0000305};
DE            EC=7.6.2.- {ECO:0000250|UniProtKB:Q5SSE9};
GN   Name=ABCA13 {ECO:0000312|HGNC:HGNC:14638};
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), ALTERNATIVE SPLICING (ISOFORM 3),
RP   AND TISSUE SPECIFICITY.
RC   TISSUE=Lung;
RX   PubMed=12697998; DOI=10.1159/000069852;
RA   Prades C., Arnould I., Annilo T., Shulenin S., Chen Z.-Q., Orosco L.,
RA   Triunfol M., Devaud C., Maintoux-Larois C., Lafargue C., Lemoine C.,
RA   Denefle P., Rosier M., Dean M.;
RT   "The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3,
RT   encodes a 5058 amino acid protein with an extracellular domain encoded in
RT   part by a 4.8-kb conserved exon.";
RL   Cytogenet. Genome Res. 98:160-168(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5; 6 AND 7), ALTERNATIVE SPLICING, AND
RP   TISSUE SPECIFICITY.
RX   PubMed=23266639; DOI=10.1016/j.gene.2012.11.072;
RA   Maess M.B., Stolle K., Cullen P., Lorkowski S.;
RT   "Evidence for an alternative genomic structure, mRNA and protein sequence
RT   of human ABCA13.";
RL   Gene 515:298-307(2013).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP   [LARGE SCALE MRNA] OF 4659-5058 (ISOFORM 1).
RC   TISSUE=Thymus, and Tongue;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 2933-5058 (ISOFORM 4), AND VARIANT PHE-3851.
RA   Schaap F.G., van Wijland M.J.A., Groen A.K.;
RT   "Cloning of two novel ABC transporters, ABCA12 and ABCA13, tentatively
RT   involved in lipid homeostasis.";
RL   Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   SUBCELLULAR LOCATION, AND FUNCTION.
RX   PubMed=33478937; DOI=10.1074/jbc.ra120.015997;
RA   Nakato M., Shiranaga N., Tomioka M., Watanabe H., Kurisu J., Kengaku M.,
RA   Komura N., Ando H., Kimura Y., Kioka N., Ueda K.;
RT   "ABCA13 dysfunction associated with psychiatric disorders causes impaired
RT   cholesterol trafficking.";
RL   J. Biol. Chem. 296:100166-100177(2021).
CC   -!- FUNCTION: May mediate the cholesterol and gangliosides transport from
CC       the plasma membrane to intracellular vesicles in an ATP hydrolysis
CC       dependent manner, thus playing a role in their internalization by
CC       endocytic retrograde transport and may also participate in the
CC       endocytosis of synaptic vesicle in cortical neurons.
CC       {ECO:0000269|PubMed:33478937}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=ATP + cholesterol(in) + H2O = ADP + cholesterol(out) + H(+) +
CC         phosphate; Xref=Rhea:RHEA:39051, ChEBI:CHEBI:15377,
CC         ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30616,
CC         ChEBI:CHEBI:43474, ChEBI:CHEBI:456216;
CC         Evidence={ECO:0000250|UniProtKB:Q5SSE9};
CC   -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane
CC       {ECO:0000269|PubMed:33478937}; Multi-pass membrane protein
CC       {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=7;
CC       Name=1;
CC         IsoId=Q86UQ4-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q86UQ4-2; Sequence=VSP_021069, VSP_021070;
CC       Name=3;
CC         IsoId=Q86UQ4-3; Sequence=VSP_021068;
CC       Name=4;
CC         IsoId=Q86UQ4-4; Sequence=VSP_054634;
CC       Name=5;
CC         IsoId=Q86UQ4-5; Sequence=VSP_054633, VSP_054634;
CC       Name=6;
CC         IsoId=Q86UQ4-6; Sequence=VSP_054633, VSP_054634, VSP_054636;
CC       Name=7;
CC         IsoId=Q86UQ4-7; Sequence=VSP_054633, VSP_054634, VSP_054635;
CC   -!- TISSUE SPECIFICITY: Significantly expressed in the bone marrow,
CC       trachea, testis, thyroid and lung as well as in skin fibroblasts.
CC       {ECO:0000269|PubMed:12697998, ECO:0000269|PubMed:23266639}.
CC   -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC       premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC       decay. {ECO:0000305}.
CC   -!- SIMILARITY: Belongs to the ABC transporter superfamily. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAC03623.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC86492.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC86492.1; Type=Frameshift; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins;
CC       URL="http://abcm2.hegelab.org/search";
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DR   EMBL; AY204751; AAP13576.1; -; mRNA.
DR   EMBL; JF913488; AFH89038.1; -; mRNA.
DR   EMBL; JF913489; AFH89039.1; -; mRNA.
DR   EMBL; JF913490; AFH89040.1; -; mRNA.
DR   EMBL; JF913491; AFH89041.1; -; mRNA.
DR   EMBL; JF913492; AFH89042.1; -; mRNA.
DR   EMBL; AK091270; BAC03623.1; ALT_INIT; mRNA.
DR   EMBL; AK126220; BAC86492.1; ALT_SEQ; mRNA.
DR   EMBL; AC073424; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC073927; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC091770; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC095039; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC232300; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC232312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AF501281; AAO59914.1; -; mRNA.
DR   CCDS; CCDS47584.1; -. [Q86UQ4-1]
DR   RefSeq; NP_689914.3; NM_152701.4.
DR   SMR; Q86UQ4; -.
DR   BioGRID; 127551; 10.
DR   IntAct; Q86UQ4; 4.
DR   MINT; Q86UQ4; -.
DR   STRING; 9606.ENSP00000411096; -.
DR   TCDB; 3.A.1.211.18; the atp-binding cassette (abc) superfamily.
DR   CarbonylDB; Q86UQ4; -.
DR   GlyCosmos; Q86UQ4; 4 sites, 1 glycan.
DR   GlyGen; Q86UQ4; 4 sites, 1 O-linked glycan (4 sites).
DR   iPTMnet; Q86UQ4; -.
DR   PhosphoSitePlus; Q86UQ4; -.
DR   BioMuta; ABCA13; -.
DR   DMDM; 327478592; -.
DR   EPD; Q86UQ4; -.
DR   jPOST; Q86UQ4; -.
DR   MassIVE; Q86UQ4; -.
DR   PaxDb; 9606-ENSP00000411096; -.
DR   PeptideAtlas; Q86UQ4; -.
DR   ProteomicsDB; 69861; -. [Q86UQ4-1]
DR   ProteomicsDB; 69862; -. [Q86UQ4-2]
DR   ProteomicsDB; 69863; -. [Q86UQ4-3]
DR   DNASU; 154664; -.
DR   Ensembl; ENST00000417403.5; ENSP00000409268.1; ENSG00000179869.15. [Q86UQ4-2]
DR   GeneID; 154664; -.
DR   KEGG; hsa:154664; -.
DR   UCSC; uc064dot.1; human. [Q86UQ4-1]
DR   AGR; HGNC:14638; -.
DR   CTD; 154664; -.
DR   DisGeNET; 154664; -.
DR   GeneCards; ABCA13; -.
DR   HGNC; HGNC:14638; ABCA13.
DR   MIM; 607807; gene.
DR   neXtProt; NX_Q86UQ4; -.
DR   OpenTargets; ENSG00000179869; -.
DR   PharmGKB; PA134925234; -.
DR   VEuPathDB; HostDB:ENSG00000179869; -.
DR   eggNOG; KOG0059; Eukaryota.
DR   GeneTree; ENSGT00940000161703; -.
DR   HOGENOM; CLU_076113_0_0_1; -.
DR   InParanoid; Q86UQ4; -.
DR   OrthoDB; 6951at2759; -.
DR   PhylomeDB; Q86UQ4; -.
DR   TreeFam; TF105191; -.
DR   PathwayCommons; Q86UQ4; -.
DR   Reactome; R-HSA-6798695; Neutrophil degranulation.
DR   SignaLink; Q86UQ4; -.
DR   SIGNOR; Q86UQ4; -.
DR   BioGRID-ORCS; 154664; 15 hits in 1153 CRISPR screens.
DR   ChiTaRS; ABCA13; human.
DR   GeneWiki; ABCA13; -.
DR   GenomeRNAi; 154664; -.
DR   Pharos; Q86UQ4; Tbio.
DR   PRO; PR:Q86UQ4; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q86UQ4; Protein.
DR   Bgee; ENSG00000179869; Expressed in bronchial epithelial cell and 93 other cell types or tissues.
DR   ExpressionAtlas; Q86UQ4; baseline and differential.
DR   GO; GO:0035577; C:azurophil granule membrane; TAS:Reactome.
DR   GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR   GO; GO:0097708; C:intracellular vesicle; IDA:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0030667; C:secretory granule membrane; TAS:Reactome.
DR   GO; GO:0140359; F:ABC-type transporter activity; IEA:InterPro.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0016887; F:ATP hydrolysis activity; IEA:InterPro.
DR   GO; GO:0042626; F:ATPase-coupled transmembrane transporter activity; IBA:GO_Central.
DR   GO; GO:0005319; F:lipid transporter activity; IBA:GO_Central.
DR   GO; GO:0035627; P:ceramide transport; ISS:UniProtKB.
DR   GO; GO:0006869; P:lipid transport; IBA:GO_Central.
DR   GO; GO:0032376; P:positive regulation of cholesterol transport; IDA:UniProtKB.
DR   GO; GO:1900244; P:positive regulation of synaptic vesicle endocytosis; ISS:UniProtKB.
DR   CDD; cd03263; ABC_subfamily_A; 2.
DR   Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 2.
DR   InterPro; IPR003593; AAA+_ATPase.
DR   InterPro; IPR013525; ABC2_TM.
DR   InterPro; IPR003439; ABC_transporter-like_ATP-bd.
DR   InterPro; IPR026082; ABCA.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   PANTHER; PTHR19229:SF113; ATP-BINDING CASSETTE SUB-FAMILY A MEMBER 13; 1.
DR   PANTHER; PTHR19229; ATP-BINDING CASSETTE TRANSPORTER SUBFAMILY A ABCA; 1.
DR   Pfam; PF12698; ABC2_membrane_3; 2.
DR   Pfam; PF00005; ABC_tran; 2.
DR   SMART; SM00382; AAA; 2.
DR   SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 2.
DR   PROSITE; PS50893; ABC_TRANSPORTER_2; 2.
PE   2: Evidence at transcript level;
KW   Alternative splicing; ATP-binding; Cytoplasmic vesicle; Lipid transport;
KW   Membrane; Nucleotide-binding; Reference proteome; Repeat; Translocase;
KW   Transmembrane; Transmembrane helix; Transport.
FT   CHAIN           1..5058
FT                   /note="ATP-binding cassette sub-family A member 13"
FT                   /id="PRO_0000253573"
FT   TRANSMEM        23..43
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        3568..3588
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        3607..3627
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        3648..3668
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        3679..3699
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        3709..3729
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        3752..3772
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        4226..4246
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        4458..4478
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        4504..4524
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        4536..4556
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        4568..4588
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        4607..4627
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        4651..4671
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          3842..4074
FT                   /note="ABC transporter 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00434"
FT   DOMAIN          4718..4956
FT                   /note="ABC transporter 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00434"
FT   BINDING         3875..3882
FT                   /ligand="ATP"
FT                   /ligand_id="ChEBI:CHEBI:30616"
FT                   /ligand_label="1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00434"
FT   BINDING         4754..4761
FT                   /ligand="ATP"
FT                   /ligand_id="ChEBI:CHEBI:30616"
FT                   /ligand_label="2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00434"
FT   VAR_SEQ         1..2736
FT                   /note="Missing (in isoform 5, isoform 6 and isoform 7)"
FT                   /evidence="ECO:0000303|PubMed:23266639"
FT                   /id="VSP_054633"
FT   VAR_SEQ         1..2298
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_021068"
FT   VAR_SEQ         300..317
FT                   /note="IPTDTSLEKMVCSVLSST -> VHMLDCFSHRWAFPGDWI (in isoform
FT                   2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_021069"
FT   VAR_SEQ         318..5058
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_021070"
FT   VAR_SEQ         4271
FT                   /note="F -> FS (in isoform 4, isoform 5, isoform 6 and
FT                   isoform 7)"
FT                   /evidence="ECO:0000303|PubMed:23266639, ECO:0000303|Ref.5"
FT                   /id="VSP_054634"
FT   VAR_SEQ         4478..4508
FT                   /note="Missing (in isoform 7)"
FT                   /evidence="ECO:0000303|PubMed:23266639"
FT                   /id="VSP_054635"
FT   VAR_SEQ         4947..5058
FT                   /note="FGDGYTVKVWLCKEANQHCTVSDHLKLYFPGIQFKGQHLNLLEYHVPKRWGC
FT                   LADLFKVIENNKTFLNIKHYSINQTTLEQVFINFASEQQQTLQSTLDPSTDSHHTHHLP
FT                   I -> KLNKTN (in isoform 6)"
FT                   /evidence="ECO:0000303|PubMed:23266639"
FT                   /id="VSP_054636"
FT   VARIANT         506
FT                   /note="P -> L (in dbSNP:rs1880738)"
FT                   /id="VAR_059087"
FT   VARIANT         555
FT                   /note="R -> H (in dbSNP:rs2361519)"
FT                   /id="VAR_059088"
FT   VARIANT         767
FT                   /note="I -> S (in dbSNP:rs17712293)"
FT                   /id="VAR_059089"
FT   VARIANT         799
FT                   /note="E -> K (in dbSNP:rs17547816)"
FT                   /id="VAR_059090"
FT   VARIANT         1434
FT                   /note="I -> V (in dbSNP:rs17132195)"
FT                   /id="VAR_059091"
FT   VARIANT         1508
FT                   /note="T -> I (in dbSNP:rs6583483)"
FT                   /id="VAR_055470"
FT   VARIANT         1540
FT                   /note="F -> L (in dbSNP:rs17712299)"
FT                   /id="VAR_059092"
FT   VARIANT         1889
FT                   /note="I -> K (in dbSNP:rs17132197)"
FT                   /id="VAR_059093"
FT   VARIANT         2033
FT                   /note="N -> D (in dbSNP:rs17661364)"
FT                   /id="VAR_059094"
FT   VARIANT         2154
FT                   /note="S -> L (in dbSNP:rs17092911)"
FT                   /id="VAR_059095"
FT   VARIANT         2178
FT                   /note="A -> E (in dbSNP:rs1880736)"
FT                   /id="VAR_059096"
FT   VARIANT         2212
FT                   /note="L -> S (in dbSNP:rs17132198)"
FT                   /id="VAR_059097"
FT   VARIANT         2436
FT                   /note="K -> R (in dbSNP:rs17132206)"
FT                   /id="VAR_059098"
FT   VARIANT         2537
FT                   /note="S -> A (in dbSNP:rs17132208)"
FT                   /id="VAR_059099"
FT   VARIANT         2674
FT                   /note="R -> W (in dbSNP:rs2222648)"
FT                   /id="VAR_059100"
FT   VARIANT         3142
FT                   /note="A -> V (in dbSNP:rs3931814)"
FT                   /id="VAR_059101"
FT   VARIANT         3851
FT                   /note="Y -> F (in dbSNP:rs17132289)"
FT                   /evidence="ECO:0000269|Ref.5"
FT                   /id="VAR_059102"
FT   VARIANT         4277
FT                   /note="N -> D (in dbSNP:rs4917152)"
FT                   /id="VAR_059103"
FT   VARIANT         4302
FT                   /note="Q -> R (in dbSNP:rs4917153)"
FT                   /id="VAR_059104"
FT   VARIANT         4335
FT                   /note="P -> A (in dbSNP:rs17132370)"
FT                   /id="VAR_059105"
FT   CONFLICT        1416
FT                   /note="H -> R (in Ref. 1; AAP13576)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2718
FT                   /note="P -> L (in Ref. 1; AAP13576)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2831
FT                   /note="L -> R (in Ref. 1; AAP13576)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2870
FT                   /note="K -> E (in Ref. 1; AAP13576)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        3057
FT                   /note="T -> A (in Ref. 5; AAO59914)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        4446
FT                   /note="K -> E (in Ref. 1; AAP13576 and 5; AAO59914)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        4584
FT                   /note="L -> P (in Ref. 1; AAP13576)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   5058 AA;  576159 MW;  B7F03D10101551E4 CRC64;
     MGHAGCQFKA LLWKNWLCRL RNPVLFLAEF FWPCILFVIL TVLRFQEPPR YRDICYLQPR
     DLPSCGVIPF VQSLLCNTGS RCRNFSYEGS MEHHFRLSRF QTAADPKKVN NLAFLKEIQD
     LAEEIHGMMD KAKNLKRLWV ERSNTPDSSY GSSFFTMDLN KTEEVILKLE SLHQQPHIWD
     FLLLLPRLHT SHDHVEDGMD VAVNLLQTIL NSLISLEDLD WLPLNQTFSQ VSELVLNVTI
     STLTFLQQHG VAVTEPVYHL SMQNIVWDPQ KVQYDLKSQF GFDDLHTEQI LNSSAELKEI
     PTDTSLEKMV CSVLSSTSED EAEKWGHVGG CHPKWSEAKN YLVHAVSWLR VYQQVFVQWQ
     QGSLLQKTLT GMGHSLEALR NQFEEESKPW KVVEALHTAL LLLNDSLSAD GPKDNHTFPK
     ILQHLWKLQS LLQNLPQWPA LKRFLQLDGA LRNAIAQNLH FVQEVLICLE TSANDFKWFE
     LNQLKLEKDV FFWELKQMLA KNAVCPNGRF SEKEVFLPPG NSSIWGGLQG LLCYCNSSET
     SVLNKLLGSV EDADRILQEV ITWHKNMSVL IPEEYLDWQE LEMQLSEASL SCTRLFLLLG
     ADPSPENDVF SSDCKHQLVS TVIFHTLEKT QFFLEQAYYW KAFKKFIRKT CEVAQYVNMQ
     ESFQNRLLAF PEESPCFEEN MDWKMISDNY FQFLNNLLKS PTASISRALN FTKHLLMMEK
     KLHTLEDEQM NFLLSFVEFF EKLLLPNLFD SSIVPSFHSL PSLTEDILNI SSLWTNHLKS
     LKRDPSATDA QKLLEFGNEV IWKMQTLGSH WIRKEPKNLL RFIELILFEI NPKLLELWAY
     GISKGKRAKL ENFFTLLNFS VPENEILSTS FNFSQLFHSD WPKSPAMNID FVRLSEAIIT
     SLHEFGFLEQ EQISEALNTV YAIRNASDLF SALSEPQKQE VDKILTHIHL NVFQDKDSAL
     LLQIYSSFYR YIYELLNIQS RGSSLTFLTQ ISKHILDIIK QFNFQNISKA FAFLFKTAEV
     LGGISNVSYC QQLLSIFNFL ELQAQSFMST EGQELEVIHT TLTGLKQLLI IDEDFRISLF
     QYMSQFFNSS VEDLLDNKCL ISDNKHISSV NYSTSEESSF VFPLAQIFSN LSANVSVFNK
     FMSIHCTVSW LQMWTEIWET ISQLFKFDMN VFTSLHHGFT QLLDELEDDV KVSKSCQGIL
     PTHNVARLIL NLFKNVTQAN DFHNWEDFLD LRDFLVALGN ALVSVKKLNL EQVEKSLFTM
     EAALHQLKTF PFNESTSREF LNSLLEVFIE FSSTSEYIVR NLDSINDFLS NNLTNYGEKF
     ENIITELREA IVFLRNVSHD RDLFSCADIF QNVTECILED GFLYVNTSQR MLRILDTLNS
     TFSSENTISS LKGCIVWLDV INHLYLLSNS SFSQGHLQNI LGNFRDIENK MNSILKIVTW
     VLNIKKPLCS SNGSHINCVN IYLKDVTDFL NIVLTTVFEK EKKPKFEILL ALLNDSTKQV
     RMSINNLTTD FDFASQSNWR YFTELILRPI EMSDEIPNQF QNIWLHLITL GKEFQKLVKG
     IYFNILENNS SSKTENLLNI FATSPKEKDV NSVGNSIYHL ASYLAFSLSH DLQNSPKIII
     SPEIMKATGL GIQLIRDVFN SLMPVVHHTS PQNAGYMQAL KKVTSVMRTL KKADIDLLVD
     QLEQVSVNLM DFFKNISSVG TGNLVVNLLV GLMEKFADSS HSWNVNHLLQ LSRLFPKDVV
     DAVIDVYYVL PHAVRLLQGV PGKNITEGLK DVYSFTLLHG ITISNITKED FAIVIKILLD
     TIELVSDKPD IISEALACFP VVWCWNHTNS GFRQNSKIDP CNVHGLMSSS FYGKVASILD
     HFHLSPQGED SPCSNESSRM EITRKVVCII HELVDWNSIL LELSEVFHVN ISLVKTVQKF
     WHKILPFVPP SINQTRDSIS ELCPSGSIKQ VALQIIEKLK NVNFTKVTSG ENILDKLSSL
     NKILNINEDT ETSVQNIISS NLERTVQLIS EDWSLEKSTH NLLSLFMMLQ NANVTGSSLE
     ALSSFIEKSE TPYNFEELWP KFQQIMKDLT QDFRIRHLLS EMNKGIKSIN SMALQKITLQ
     FAHFLEILDS PSLKTLEIIE DFLLVTKNWL QEYANEDYSR MIETLFIPVT NESSTEDIAL
     LAKAIATFWG SLKNISRAGN FDVAFLTHLL NQEQLTNFSV VQLLFENILI NLINNLAGNS
     QEAAWNLNDT DLQIMNFINL ILNHMQSETS RKTVLSLRSI VDFTEQFLKT FFSLFLKEDS
     ENKISLLLKY FHKDVIAEMS FVPKDKILEI LKLDQFLTLM IQDRLMNIFS SLKETIYHLM
     KSSFILDNGE FYFDTHQGLK FMQDLFNALL RETSMKNKTE NNIDFFTVVS QLFFHVNKSE
     DLFKLNQDLG SALHLVRECS TEMARLLDTI LHSPNKDFYA LYPTLQEVIL ANLTDLLFFI
     NNSFPLRNRA TLEITKRLVG AISRASEESH VLKPLLEMSG TLVMLLNDSA DLRDLATSMD
     SIVKLLKLVK KVSGKMSTVF KTHFISNTKD SVKFFDTLYS IMQQSVQNLV KEIATLKKID
     HFTFEKINDL LVPFLDLAFE MIGVEPYISS NSDIFSMSPS ILSYMNQSKD FSDILEEIAE
     FLTSVKMNLE DMRSLAVAFN NETQTFSMDS VNLREEILGC LVPINNITNQ MDFLYPNPIS
     THSGPQDIKW EIIHEVIPFL DKILSQNSTE IGSFLKMVIC LTLEALWKNL KKDNWNVSNV
     LMTFTQHPNN LLKTIETVLE ASSGIKSDYE GDLNKSLYFD TPLSQNITHH QLEKAIHNVL
     SRIALWRKGL LFNNSEWITS TRTLFQPLFE IFIKATTGKN VTSEKEERTK KEMIDFPYSF
     KPFFCLEKYL GGLFVLTKYW QQIPLTDQSV VEICEVFQQT VKPSEAMEML QKVKMMVVRV
     LTIVAENPSW TKDILCATLS CKQNGIRHLI LSAIQGVTLA QDHFQEIEKI WSSPNQLNCE
     SLSKNLSSTL ESFKSSLENA TGQDCTSQPR LETVQQHLYM LAKSLEETWS SGNPIMTFLS
     NFTVTEDVKI KDLMKNITKL TEELRSSIQI SNETIHSILE ANISHSKVLF SALTVALSGK
     CDQEILHLLL TFPKGEKSWI AAEELCSLPG SKVYSLIVLL SRNLDVRAFI YKTLMPSEAN
     GLLNSLLDIV SSLSALLAKA QHVFEYLPEF LHTFKITALL ETLDFQQVSQ NVQARSSAFG
     SFQFVMKMVC KDQASFLSDS NMFINLPRVK ELLEDDKEKF NIPEDSTPFC LKLYQEILQL
     PNGALVWTFL KPILHGKILY TPNTPEINKV IQKANYTFYI VDKLKTLSET LLEMSSLFQR
     SGSGQMFNQL QEALRNKFVR NFVENQLHID VDKLTEKLQT YGGLLDEMFN HAGAGRFRFL
     GSILVNLSSC VALNRFQALQ SVDILETKAH ELLQQNSFLA SIIFSNSLFD KNFRSESVKL
     PPHVSYTIRT NVLYSVRTDV VKNPSWKFHP QNLPADGFKY NYVFAPLQDM IERAIILVQT
     GQEALEPAAQ TQAAPYPCHT SDLFLNNVGF FFPLIMMLTW MVSVASMVRK LVYEQEIQIE
     EYMRMMGVHP VIHFLAWFLE NMAVLTISSA TLAIVLKTSG IFAHSNTFIV FLFLLDFGMS
     VVMLSYLLSA FFSQANTAAL CTSLVYMISF LPYIVLLVLH NQLSFVNQTF LCLLSTTAFG
     QGVFFITFLE GQETGIQWNN MYQALEQGGM TFGWVCWMIL FDSSLYFLCG WYLSNLIPGT
     FGLRKPWYFP FTASYWKSVG FLVEKRQYFL SSSLFFFNEN FDNKGSSLQN REGELEGSAP
     GVTLVSVTKE YEGHKAVVQD LSLTFYRDQI TALLGTNGAG KTTIISMLTG LHPPTSGTII
     INGKNLQTDL SRVRMELGVC PQQDILLDNL TVREHLLLFA SIKAPQWTKK ELHQQVNQTL
     QDVDLTQHQH KQTRALSGGL KRKLSLGIAF MGMSRTVVLD EPTSGVDPCS RHSLWDILLK
     YREGRTIIFT THHLDEAEAL SDRVAVLQHG RLRCCGPPFC LKEAYGQGLR LTLTRQPSVL
     EAHDLKDMAC VTSLIKIYIP QAFLKDSSGS ELTYTIPKDT DKACLKGLFQ ALDENLHQLH
     LTGYGISDTT LEEVFLMLLQ DSNKKSHIAL GTESELQNHR PTGHLSGYCG SLARPATVQG
     VQLLRAQVAA ILARRLRRTL RAGKSTLADL LLPVLFVALA MGLFMVRPLA TEYPPLRLTP
     GHYQRAETYF FSSGGDNLDL TRVLLRKFRD QDLPCADLNP RQKNSSCWRT DPFSHPEFQD
     SCGCLKCPNR SASAPYLTNH LGHTLLNLSG FNMEEYLLAP SEKPRLGGWS FGLKIPSEAG
     GANGNISKPP TLAKVWYNQK GFHSLPSYLN HLNNLILWQH LPPTVDWRQY GITLYSHPYG
     GALLNKDKIL ESIRQCGVAL CIVLGFSILS ASIGSSVVRD RVIGAKRLQH ISGLGYRMYW
     FTNFLYDMLF YLVSVCLCVA VIVAFQLTAF TFRKNLAATA LLLSLFGYAT LPWMYLMSRI
     FSSSDVAFIS YVSLNFIFGL CTMLITIMPR LLAIISKAKN LQNIYDVLKW VFTIFPQFCL
     GQGLVELCYN QIKYDLTHNF GIDSYVSPFE MNFLGWIFVQ LASQGTVLLL LRVLLHWDLL
     RWPRGHSTLQ GTVKSSKDTD VEKEEKRVFE GRTNGDILVL YNLSKHYRRF FQNIIAVQDI
     SLGIPKGECF GLLGVNGAGK STTFKMLNGE VSLTSGHAII RTPMGDAVDL SSAGTAGVLI
     GYCPQQDALD ELLTGWEHLY YYCSLRGIPR QCIPEVAGDL IRRLHLEAHA DKPVATYSGG
     TKRKLSTALA LVGKPDILLL DEPSSGMDPC SKRYLWQTIM KEVREGCAAV LTSHSMEECE
     ALCTRLAIMV NGSFKCLGSP QHIKNRFGDG YTVKVWLCKE ANQHCTVSDH LKLYFPGIQF
     KGQHLNLLEY HVPKRWGCLA DLFKVIENNK TFLNIKHYSI NQTTLEQVFI NFASEQQQTL
     QSTLDPSTDS HHTHHLPI
//