ID   DYH14_HUMAN             Reviewed;        3507 AA.
AC   Q0VDD8; A6NG62; A6NNL2; Q0VDD9; Q4VXC7; Q4VXG4; Q4VXG5; Q5VU33; Q5VU34;
DT   15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   26-FEB-2008, sequence version 3.
DT   24-JAN-2024, entry version 135.
DE   RecName: Full=Dynein axonemal heavy chain 14;
DE   AltName: Full=Axonemal beta dynein heavy chain 14;
DE   AltName: Full=Ciliary dynein heavy chain 14;
GN   Name=DNAH14; Synonyms=C1orf67;
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 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   [2]
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS SER-220
RP   AND LEU-274.
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).
CC   -!- FUNCTION: Force generating protein of respiratory cilia. Produces force
CC       towards the minus ends of microtubules. Dynein has ATPase activity; the
CC       force-producing power stroke is thought to occur on release of ADP.
CC       Involved in sperm motility; implicated in sperm flagellar assembly (By
CC       similarity). {ECO:0000250}.
CC   -!- SUBUNIT: Consists of at least two heavy chains and a number of
CC       intermediate and light chains.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC       {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q0VDD8-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q0VDD8-2; Sequence=VSP_031314, VSP_031315, VSP_031316,
CC                                  VSP_031317;
CC       Name=3;
CC         IsoId=Q0VDD8-3; Sequence=VSP_031314, VSP_031315, VSP_038241,
CC                                  VSP_038242;
CC       Name=4;
CC         IsoId=Q0VDD8-4; Sequence=VSP_031314, VSP_031315, VSP_031316,
CC                                  VSP_038243, VSP_038244, VSP_038245,
CC                                  VSP_038246, VSP_038247, VSP_038248,
CC                                  VSP_038249, VSP_038250, VSP_038251,
CC                                  VSP_038252, VSP_038253, VSP_038254,
CC                                  VSP_038255;
CC   -!- DOMAIN: Dynein heavy chains probably consist of an N-terminal stem
CC       (which binds cargo and interacts with other dynein components), and the
CC       head or motor domain. The motor contains six tandemly-linked AAA
CC       domains in the head, which form a ring. A stalk-like structure (formed
CC       by two of the coiled coil domains) protrudes between AAA 4 and AAA 5
CC       and terminates in a microtubule-binding site. A seventh domain may also
CC       contribute to this ring; it is not clear whether the N-terminus or the
CC       C-terminus forms this extra domain. There are four well-conserved and
CC       two non-conserved ATPase sites, one per AAA domain. Probably only one
CC       of these (within AAA 1) actually hydrolyzes ATP, the others may serve a
CC       regulatory function (By similarity). {ECO:0000250}.
CC   -!- SIMILARITY: Belongs to the dynein heavy chain family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI19717.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=AAI19718.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=EAW69735.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR   EMBL; AC093560; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL590547; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL596134; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL645769; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC092811; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL162738; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL357912; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471098; EAW69735.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC119716; AAI19717.1; ALT_INIT; mRNA.
DR   EMBL; BC119717; AAI19718.1; ALT_INIT; mRNA.
DR   CCDS; CCDS41472.1; -. [Q0VDD8-3]
DR   CCDS; CCDS44322.1; -. [Q0VDD8-2]
DR   RefSeq; NP_001138626.1; NM_001145154.1. [Q0VDD8-2]
DR   RefSeq; NP_001364.1; NM_001373.1.
DR   RefSeq; NP_659426.2; NM_144989.2. [Q0VDD8-3]
DR   SMR; Q0VDD8; -.
DR   BioGRID; 126070; 28.
DR   IntAct; Q0VDD8; 11.
DR   GlyCosmos; Q0VDD8; 1 site, No reported glycans.
DR   GlyGen; Q0VDD8; 3 sites, 1 O-linked glycan (2 sites).
DR   iPTMnet; Q0VDD8; -.
DR   PhosphoSitePlus; Q0VDD8; -.
DR   SwissPalm; Q0VDD8; -.
DR   BioMuta; DNAH14; -.
DR   DMDM; 172046085; -.
DR   EPD; Q0VDD8; -.
DR   jPOST; Q0VDD8; -.
DR   MassIVE; Q0VDD8; -.
DR   MaxQB; Q0VDD8; -.
DR   PeptideAtlas; Q0VDD8; -.
DR   ProteomicsDB; 58820; -. [Q0VDD8-1]
DR   ProteomicsDB; 58821; -. [Q0VDD8-2]
DR   ProteomicsDB; 58823; -. [Q0VDD8-4]
DR   Pumba; Q0VDD8; -.
DR   Antibodypedia; 34641; 94 antibodies from 15 providers.
DR   DNASU; 127602; -.
DR   Ensembl; ENST00000366848.5; ENSP00000355813.1; ENSG00000185842.16. [Q0VDD8-3]
DR   Ensembl; ENST00000366850.7; ENSP00000355815.3; ENSG00000185842.16. [Q0VDD8-3]
DR   Ensembl; ENST00000400952.7; ENSP00000383737.3; ENSG00000185842.16. [Q0VDD8-2]
DR   Ensembl; ENST00000430092.5; ENSP00000414402.1; ENSG00000185842.16. [Q0VDD8-4]
DR   Ensembl; ENST00000439375.6; ENSP00000392061.2; ENSG00000185842.16. [Q0VDD8-4]
DR   Ensembl; ENST00000445597.6; ENSP00000409472.2; ENSG00000185842.16. [Q0VDD8-1]
DR   GeneID; 127602; -.
DR   KEGG; hsa:127602; -.
DR   UCSC; uc001hou.5; human. [Q0VDD8-1]
DR   AGR; HGNC:2945; -.
DR   CTD; 127602; -.
DR   DisGeNET; 127602; -.
DR   GeneCards; DNAH14; -.
DR   HGNC; HGNC:2945; DNAH14.
DR   HPA; ENSG00000185842; Tissue enhanced (testis).
DR   MIM; 603341; gene.
DR   neXtProt; NX_Q0VDD8; -.
DR   OpenTargets; ENSG00000185842; -.
DR   PharmGKB; PA27399; -.
DR   VEuPathDB; HostDB:ENSG00000185842; -.
DR   GeneTree; ENSGT00940000160505; -.
DR   HOGENOM; CLU_000038_6_0_1; -.
DR   InParanoid; Q0VDD8; -.
DR   OMA; MFYNDCI; -.
DR   OrthoDB; 166463at2759; -.
DR   PhylomeDB; Q0VDD8; -.
DR   TreeFam; TF342240; -.
DR   PathwayCommons; Q0VDD8; -.
DR   SignaLink; Q0VDD8; -.
DR   BioGRID-ORCS; 127602; 11 hits in 1157 CRISPR screens.
DR   ChiTaRS; DNAH14; human.
DR   GenomeRNAi; 127602; -.
DR   Pharos; Q0VDD8; Tbio.
DR   PRO; PR:Q0VDD8; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q0VDD8; Protein.
DR   Bgee; ENSG00000185842; Expressed in left testis and 106 other cell types or tissues.
DR   ExpressionAtlas; Q0VDD8; baseline and differential.
DR   GO; GO:0097729; C:9+2 motile cilium; IBA:GO_Central.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0030286; C:dynein complex; IBA:GO_Central.
DR   GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0045505; F:dynein intermediate chain binding; IEA:InterPro.
DR   GO; GO:0051959; F:dynein light intermediate chain binding; IEA:InterPro.
DR   GO; GO:0008569; F:minus-end-directed microtubule motor activity; IBA:GO_Central.
DR   GO; GO:0060294; P:cilium movement involved in cell motility; IBA:GO_Central.
DR   Gene3D; 1.10.472.130; -; 1.
DR   Gene3D; 1.10.8.1220; -; 1.
DR   Gene3D; 1.10.8.710; -; 1.
DR   Gene3D; 1.20.1270.280; -; 1.
DR   Gene3D; 1.20.58.1120; -; 1.
DR   Gene3D; 1.20.920.20; -; 1.
DR   Gene3D; 3.10.490.20; -; 1.
DR   Gene3D; 6.10.140.1060; -; 1.
DR   Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 6.
DR   InterPro; IPR035699; AAA_6.
DR   InterPro; IPR035706; AAA_9.
DR   InterPro; IPR026983; DHC_fam.
DR   InterPro; IPR043157; Dynein_AAA1S.
DR   InterPro; IPR041466; Dynein_AAA5_ext.
DR   InterPro; IPR041228; Dynein_C.
DR   InterPro; IPR043160; Dynein_C_barrel.
DR   InterPro; IPR024743; Dynein_HC_stalk.
DR   InterPro; IPR024317; Dynein_heavy_chain_D4_dom.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   PANTHER; PTHR10676:SF356; DYNEIN AXONEMAL HEAVY CHAIN 14; 1.
DR   PANTHER; PTHR10676; DYNEIN HEAVY CHAIN FAMILY PROTEIN; 1.
DR   Pfam; PF12774; AAA_6; 2.
DR   Pfam; PF12775; AAA_7; 1.
DR   Pfam; PF12780; AAA_8; 1.
DR   Pfam; PF12781; AAA_9; 2.
DR   Pfam; PF17852; Dynein_AAA_lid; 1.
DR   Pfam; PF18199; Dynein_C; 1.
DR   Pfam; PF12777; MT; 1.
DR   SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 4.
DR   Genevisible; Q0VDD8; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; ATP-binding; Cell projection; Cilium; Coiled coil;
KW   Cytoplasm; Cytoskeleton; Dynein; Glycoprotein; Microtubule; Motor protein;
KW   Nucleotide-binding; Reference proteome.
FT   CHAIN           1..3507
FT                   /note="Dynein axonemal heavy chain 14"
FT                   /id="PRO_0000286560"
FT   REGION          91..126
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          354..381
FT                   /evidence="ECO:0000255"
FT   MOTIF           1164..1171
FT                   /note="GPAGTGKT motif"
FT                   /evidence="ECO:0000250"
FT   BINDING         1164..1171
FT                   /ligand="ATP"
FT                   /ligand_id="ChEBI:CHEBI:30616"
FT                   /evidence="ECO:0000255"
FT   BINDING         1427..1434
FT                   /ligand="ATP"
FT                   /ligand_id="ChEBI:CHEBI:30616"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        1818
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..177
FT                   /note="Missing (in isoform 2, isoform 3 and isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_031314"
FT   VAR_SEQ         249
FT                   /note="E -> EDYLRESIIQQHMVSPEPASLKEKGKSRRKKDQTHACPNVRKARPVS
FT                   YDRT (in isoform 2, isoform 3 and isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_031315"
FT   VAR_SEQ         344
FT                   /note="K -> KVINIVGSVKEVELIPTLEWLSERRHYYLLRQFKIFSDFRMNKAFVT
FT                   WKLNVKRIKTEKSRSFLYHHLFLADDLFQTCLVYIRGLCEDAINLKNYNDHENNLSAIC
FT                   LVK (in isoform 2 and isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_031316"
FT   VAR_SEQ         345..355
FT                   /note="LDSSRTYSLDE -> RYLVICGAVYI (in isoform 3)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038241"
FT   VAR_SEQ         356..3507
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038242"
FT   VAR_SEQ         473..3507
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_031317"
FT   VAR_SEQ         609
FT                   /note="A -> DTEIETEFENKYMYYEFPEFPTNLFIDPNRLEFSVKIQNMLTNMEKC
FT                   IT (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038243"
FT   VAR_SEQ         744
FT                   /note="V -> SLDYQSECLLYIDNVIHMSHTLIQSVIEKKNKNLLEVV (in
FT                   isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038244"
FT   VAR_SEQ         979
FT                   /note="K -> KGLPKSDMVTHLKQVVTEFKQELPIIIALGNPCLKPRHWEALQEIIG
FT                   KSVPLDKNCKVENLLALKMFQYENEINDMSTSATNEAALEKMLFKIIDFWNTTPLPLIL
FT                   HHT (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038245"
FT   VAR_SEQ         1017
FT                   /note="K -> KDLVNEWDQNLTLFSYTLEEWMNCQRNWLYLEPVFHSSEIRRQLPAE
FT                   TELFSQVISMWKKIMSKIQNKQNALQITTSAGVLEILQNCNIHLEHIKKSLEDYLEVKR
FT                   LIFPRFYFLSNAELLDILADSRNPESVQPHLVKCFENIKQLLIWKQDIGPPAVKMLISA
FT                   EGEGLVLPKKIRVRSAVEQWLVNVEKSMFDVLKKERYIYNIILLFQ (in isoform
FT                   4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038246"
FT   VAR_SEQ         1180..1219
FT                   /note="CALFAFKCNTALIKLPNSLIVLTCFGLEKTVLVMNTVMSF -> SLGKHCVV
FT                   FNCFEDLDYKIVRKFFFGLVQSGAWSCFDEFNLIDLEVLSVIASQILTIKAAKDNYSA
FT                   (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038247"
FT   VAR_SEQ         1332..1336
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038248"
FT   VAR_SEQ         1823
FT                   /note="G -> GWKHWGQSQGRRRKGNC (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038249"
FT   VAR_SEQ         1861
FT                   /note="R -> RGTSLLTNLQRSGGNFLKITECGECINYTATRDTTCLSFLMSLLLKN
FT                   SCPVLLTGESGVGKTAAINQMLEKLEGPGAFDIKHGSILGDTLLYSEIKKSSSLKQNIT
FT                   ILIPETHKTATGSS (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038250"
FT   VAR_SEQ         2011
FT                   /note="Q -> QAHLGIYFSINNFTPEVQKSKDQIISCSLAIYHQVRQNMLPTPTKCH
FT                   YMFNLRDMFKLLLGLLQADRTVVNSKEMAALLFVHEATRVFHDRLIDFTDKSLFYRLLS
FT                   RELENCFQ (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038251"
FT   VAR_SEQ         2495
FT                   /note="L -> LVEEHLLFLQAAYKDTVAEKQLLANRKTMASRRFQCASVLLTVLEDE
FT                   KTRWQETINQIDNKLEGILGDILLSAACIVYSGILTPEFRQLIVNKWETFCIENGISLS
FT                   SKFSLIKVMAQKYE (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038252"
FT   VAR_SEQ         2573..2582
FT                   /note="SCQASTWRKK -> NLLETLAPGLKAILKKDIYQKKGHYFIRVGDAEFEYNS
FT                   NFR (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038253"
FT   VAR_SEQ         2949..3016
FT                   /note="KHTFCLLLRAINHTGTDLGPVGRGQWLTSTACDRHTDVCSFSFALNDGVPDV
FT                   EHVQDIFYGHCVDKYH -> TELLNENKETCNPINFPWEKLTSFQRLIL (in
FT                   isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038254"
FT   VAR_SEQ         3069
FT                   /note="G -> GIDLTNILLRFAQELKGTTHHVTIISLGRDQAAKAEDLILKALTKTQ
FT                   QWVFLQNCHLATSFMPRLCTIVESFNSPNVTIDPEFRLWLSSKSYSSFPIPVLKKGLKI
FT                   AVESPQGLKSNLLQTFGCTGSGEVTEEIFENPDCGQWWKKLLFSLCFFNAVINERKNYG
FT                   ILGWNIAYKFNSSDLGVAIKVLENSLRGQPSISWQALRYLIGEVIYGGRVIDNWDKRCL
FT                   KTLLYKFCNPEVLKDDFSFSR (in isoform 4)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_038255"
FT   VARIANT         220
FT                   /note="T -> S (in dbSNP:rs41267347)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_032116"
FT   VARIANT         274
FT                   /note="P -> L (in dbSNP:rs41267349)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_032117"
FT   VARIANT         2671
FT                   /note="K -> E (in dbSNP:rs6667999)"
FT                   /id="VAR_057764"
FT   CONFLICT        424
FT                   /note="F -> L (in Ref. 3; AAI19718)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   3507 AA;  399895 MW;  CF0471356846EEA9 CRC64;
     MGRRSQWIWA MRCQMLVPVL SLHIGLARAL GCGCIASKIE CLIRCNAPFP LLDAVGSVAS
     QELQSLTGTV GVTSGAAAYP RWNLARARAP PHLPGTQDPL RRVRDPTPIV ASSPGRRRGS
     WSGGYGQEAS EPGVVGLCCA VLPIHPSLAL AGVGGPDLRR FQEGPQRPSD HGAAEKHMET
     FIPIDLTTEN QEMDKEETKT KPRLLRYEEK KYEDVKPLET QPAEIAEKET LEYKTVRTFS
     ESLKSEKTEE PKDDDVIRNI IRLREKLGWQ TILPQHSLKY GSSKIAIQKI TLKKPLEDDG
     EFVYCLPRKS PKSLYNPYDL QVVSAHTAKH CKEFWVITAS FISKLDSSRT YSLDEFCEEQ
     LQQATQALKQ LEDIRNKAIS EMKSTFLKVA EKNEIKEYFE SKLSEDDTTH FKLPKYRRLL
     ETFFKFVMLV DYIFQELIRQ LMNTAVTLLL ELFNGSAGMP FSVEKKNENL IRTFKDNSFP
     TGKTTNDCEE LVDNSKLHAI SVQKSEVKTD TDINEILNSV EVGKDLRKTY APIFEVNLCL
     RIPAESDSSE NSKENFHESD QCPEECVMFE DEMSENKDNC VKKHSSEELL PKAKKSKEIS
     YNLEDIISAT ITPLCQDPQL SIFIDLVSIM DLPNKTGSII HYKEQTRWPD CHILFETDPA
     YQNIIVNLLT IIGNSMGLVN AYSHKFIKYC TMTEKAKIMS MKISSMGELT SKEFEAILNR
     FRNYFRHIVN MAIEKRIGIF NVVVESSLQQ LECDPTEIEE FLEHFIFLNA ISSKISKLEK
     EFLTMSQLYS VAKHHQIHIS EEQIAIFQVL LLKFSQLKSS MKLSKINKDT AITKFRDNLE
     ACISGLHVDV GNLKAKIRTP LLLCAGTQVS TAMEMIQTLS GEAASLTNKA KAYSHYQDCF
     SDSQSHMHSV NVEEITQIVL SEISDIEGDL TLRKKLWEAQ EEWKRASWEW RNSSLQSIDV
     ESVQRNVSKL MHIISVLEKE IYSIFIIPSI DDISAQLEES QVILATIKGS PHIGPIKSQI
     MFYNDCVKSF VSSYSREKLE KVHAGLMCHL EEVADLVVLD TSNSRTKAIL GALLILYVHC
     RDIVINLLLK NIFNAEDFEW TRHLQYKWNE KQKLCYVSQG NASFTYGYEY LGCTSRLVIT
     PLTDRCWLTL MEALHLNLGG CPAGPAGTGK TETVKDLAKC ALFAFKCNTA LIKLPNSLIV
     LTCFGLEKTV LVMNTVMSFR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP
     VAMMVPHYQM IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI
     MAGTKKREFK CDTSDSLSEA DETLIVIEAI REASLPKCPP EDVPLFENII GDIFPEVTVL
     KVNQLALEKV IYTATQQLGL QNWSSQKEKI IQFYNQLQVC VGVMLVGPTG GGKTTVRRIL
     EKALTLLPIA DFLSVAERKS ASKISERKGK VDICVLNPKC VTLSELYGQL DPNTMEWTDG
     LLSATIRSYV YFNTPKNTKK DIDLRLKSRI SDLSNVFKLD SSDTTETDDN IFEEIEKVVK
     IPENHNFDWQ WIILDGPVDT FWVENLNSVL DDTRTLCLAN SERIALTNKI RVIFEVDNLS
     QASPATVSRC AMVYMDPVDL GWEPYVKSWL LKTSKIISQS GVDCLEFMIK NSVTDGLQFI
     RNRQKFQPYP MEDITVVITL CRILDAFFDF MGKNGGFEQS DDLNDTSSKE ANSQRESVTF
     KDIEKRDENT WYPEKNPDKL TKIIQKLFVF AFTWAFGGAL NREDEHRENI PFCPSLEPDS
     LAKVTYDFDK LVHELFGNSS QVGINLPTGE CSIFGYFVDI EQCEFIPWSD LVPNDQTLIQ
     RDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
     KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
     VVNDISPRLL KHFSMLVLPH PSQDILCTIF QIGIDGCGKK TCATLACYLT DNKLYRVPIS
     HKCAYIEFKE VFKKVFIHAG LKGKPTVLMV PNLNIEQDSF LEDLNYIISS GRIPDLFENV
     ELDSIAMKIR YLTEQSGHMD NRQSLLSFFQ KRIYKNLHIF VIMSPEGPSF RQNCRVYPSM
     ISSCTIDWYE RWPEEALLIV ANSFLKEKVN FENRENLKEK LAPTCVQIHK SMKDLNRKYF
     EETGRFYYTT PNSYLQFMET FAHILRAREE EMQTKRDRFH MGLSTILEAT TLVTEMQEEL
     LILGPQVEQK TKETETLMEK LRKDSQVVEK VQMLVKQDEE IVAEEVRIVE DYAQKTANEL
     KSVLPAFDKA IVALNALDKA DVAELRVYTR PPFLVLTVMN AVCILLQKKP NWATAKLLLS
     ETGFLKKLIN LDKDSIPDKV FVKLKKIVTL PDFNPHKISL VSVACCSLCQ WVIALNNYHE
     VQKVVGPKQI QVAEAQNVLK IARQRLAEKQ RGLQLISRWH NQGLPHGQYS VENAILIKNG
     QQWPLLIDPH RQAHKWIRQM EGSRLQKLSI EDSNYTKKIE NAMKTGGSVL LQSCQASTWR
     KKLYLSTEID NPHFLPSVYN FVTMINFTVT FQGLQDQLLS TVVTHEVPHL EDQRSKLLES
     ISLDAITLEE LEEKTLNLLQ KALGSILDDD KIVDTLRKSK MTSNEISKRI EATKKAESEI
     QAIRKNYLPI ATRGALLYFL VADLTQINYM YQFSLDWFHQ VFVSSVVSKS KEQEHSFKRE
     KVSPKEVHEF ISISKEPNLE NEKNLLDKHI KSAIDMLTKS IFKVVSSALF NEDKLCFSFR
     LCTVIMQNNA NGNLIQDDIG FLPEEEWNIF LYSGILINIK SALSQSRLTS TFEIGESQHL
     QWLSDSRWRQ CQYVSTHLEP FSLLCKSLLS NVSQWDTFKN SKAVYSLIST PFSSENASLE
     ENTKPPEEKH TFCLLLRAIN HTGTDLGPVG RGQWLTSTAC DRHTDVCSFS FALNDGVPDV
     EHVQDIFYGH CVDKYHVKVL RPESLNNSVR KFITEKMGNK YLQRTGVNLK DAYKGSNART
     PLILIQTHGS ASIKDYIHII QSLPDDDLPE VLGIHPEAIR SCWETQGEKF IENLIAMQPK
     TTTANLMIRP EQSKDELVME ILSDLLKRLP LTVEKEEIAV GTPSTLKSMM SSSIWESLSK
     NLKDHDPLIH CVLLTFLKQE IKRFDKLLFV IHKSLKDLQL AIKGEIILTQ ELEEIFNSFL
     NMRVPTLWQK HAYRSCKPLS SWIDDLIQRL NFFNTWAKVA YTAIQRRYMR FVTVWKQSIP
     STSQKCKHPE DSENNFFEGF PSRYWLPAFF FPQAFLAAVL QDYGRSRGIA VDALTFTHHV
     ISNTTDKDEK FSVFMPKKLN IVRRAFKGSA SSHTGVYIFG LFIEGARWNR EQKILEDSLP
     LEMCCDFPDI YFLPTKISTK TPNASNQTDS ELYAFECPVY QTPERSRILA TTGLPTNFLT
     SVYLSTKKPP SHWITMRVAL LCEKNEK
//