ABCAD_HUMAN
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 03-AUG-2022, entry version 146.
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 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; Q86UQ4; -.
DR PeptideAtlas; Q86UQ4; -.
DR PRIDE; 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 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; 131191at2759; -.
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 1072 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 91 other tissues.
DR ExpressionAtlas; Q86UQ4; baseline and differential.
DR GO; GO:0035577; C:azurophil granule membrane; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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: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 Gene3D; 3.40.50.300; -; 2.
DR InterPro; IPR003593; AAA+_ATPase.
DR InterPro; IPR003439; ABC_transporter-like_ATP-bd.
DR InterPro; IPR026082; ABCA.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR19229; PTHR19229; 1.
DR Pfam; PF00005; ABC_tran; 2.
DR SMART; SM00382; AAA; 2.
DR SUPFAM; SSF52540; SSF52540; 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
