DYH8_HUMAN
ID DYH8_HUMAN Reviewed; 4490 AA.
AC Q96JB1; O00438; Q5JYI2; Q5T2M3; Q5T2M4; Q5TG00; Q9UEM4;
DT 23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Dynein axonemal heavy chain 8 {ECO:0000305};
DE AltName: Full=Axonemal beta dynein heavy chain 8;
DE AltName: Full=Ciliary dynein heavy chain 8;
GN Name=DNAH8 {ECO:0000312|HGNC:HGNC:2952};
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, AND VARIANTS
RP VAL-573; GLU-807; LYS-1202 AND VAL-4271.
RC TISSUE=Testis;
RX PubMed=12297094; DOI=10.1006/dbio.2002.0769;
RA Samant S.A., Ogunkua O., Hui L., Fossella J., Pilder S.H.;
RT "The T complex distorter 2 candidate gene, Dnahc8, encodes at least two
RT testis-specific axonemal dynein heavy chains that differ extensively at
RT their amino and carboxyl termini.";
RL Dev. Biol. 250:24-43(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1846-1952 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=9373155; DOI=10.1016/s0378-1119(97)00417-4;
RA Neesen J., Koehler M.R., Kirschner R., Steinlein C., Kreutzberger J.,
RA Engel W., Schmid M.;
RT "Identification of dynein heavy chain genes expressed in human and mouse
RT testis: chromosomal localization of an axonemal dynein gene.";
RL Gene 200:193-202(1997).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1856-1912 (ISOFORM 1).
RC TISSUE=Nasal polyp;
RA Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Ziegler A., Bouvagnet P.;
RT "Chromosomal localization of human dynein heavy chain genes.";
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-674, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [6]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=31178125; DOI=10.1016/j.ajhg.2019.04.015;
RA Whitfield M., Thomas L., Bequignon E., Schmitt A., Stouvenel L.,
RA Montantin G., Tissier S., Duquesnoy P., Copin B., Chantot S., Dastot F.,
RA Faucon C., Barbotin A.L., Loyens A., Siffroi J.P., Papon J.F., Escudier E.,
RA Amselem S., Mitchell V., Toure A., Legendre M.;
RT "Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm
RT Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.";
RL Am. J. Hum. Genet. 105:198-212(2019).
RN [7]
RP INVOLVEMENT IN SPGF46.
RX PubMed=32681648; DOI=10.1111/cge.13815;
RA Yang Y., Jiang C., Zhang X., Liu X., Li J., Qiao X., Liu H., Shen Y.;
RT "Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated
RT with multiple morphological abnormalities of the sperm flagella.";
RL Clin. Genet. 98:396-401(2020).
RN [8]
RP FUNCTION, SUBCELLULAR LOCATION, VARIANTS SPGF46 ARG-2013; CYS-2926 AND
RP THR-4024, VARIANT MET-3707, AND INVOLVEMENT IN SPGF46.
RX PubMed=32619401; DOI=10.1016/j.ajhg.2020.06.004;
RA Liu C., Miyata H., Gao Y., Sha Y., Tang S., Xu Z., Whitfield M., Patrat C.,
RA Wu H., Dulioust E., Tian S., Shimada K., Cong J., Noda T., Li H.,
RA Morohoshi A., Cazin C., Kherraf Z.E., Arnoult C., Jin L., He X., Ray P.F.,
RA Cao Y., Toure A., Zhang F., Ikawa M.;
RT "Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of
RT the Sperm Flagella and Primary Male Infertility.";
RL Am. J. Hum. Genet. 107:330-341(2020).
RN [9]
RP VARIANT [LARGE SCALE ANALYSIS] MET-2226.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [10]
RP VARIANT 590-ARG--LYS-4490 DEL.
RX PubMed=24307375; DOI=10.1002/humu.22490;
RA Watson C.M., Crinnion L.A., Morgan J.E., Harrison S.M., Diggle C.P.,
RA Adlard J., Lindsay H.A., Camm N., Charlton R., Sheridan E., Bonthron D.T.,
RA Taylor G.R., Carr I.M.;
RT "Robust diagnostic genetic testing using solution capture enrichment and a
RT novel variant-filtering interface.";
RL Hum. Mutat. 35:434-441(2014).
CC -!- FUNCTION: Force generating protein component of the outer dynein arms
CC (ODAs) in the sperm flagellum. Produces force towards the minus ends of
CC microtubules. Dynein has ATPase activity; the force-producing power
CC stroke is thought to occur on release of ADP. Involved in sperm
CC motility; implicated in sperm flagellar assembly.
CC {ECO:0000269|PubMed:32619401}.
CC -!- SUBUNIT: Consists of at least two heavy chains and a number of
CC intermediate and light chains.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000269|PubMed:31178125, ECO:0000269|PubMed:32619401}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q91XQ0}. Note=Detected in sperm tail, with
CC almost exclusive localization to the principal piece. Also detected in
CC the cytoplasm of primary spermatocytes. {ECO:0000250|UniProtKB:Q91XQ0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96JB1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96JB1-2; Sequence=VSP_022614;
CC Name=3;
CC IsoId=Q96JB1-3; Sequence=Not described;
CC Name=4;
CC IsoId=Q96JB1-4; Sequence=Not described;
CC -!- TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level). Not
CC detected in airway epithelial cells (at protein level).
CC {ECO:0000269|PubMed:31178125}.
CC -!- DEVELOPMENTAL STAGE: Expression is detected in the germ cells from the
CC early spermatocyte to late spermatid stages but not in the somatic
CC cells (Leydig, Sertoli cells). {ECO:0000269|PubMed:31178125}.
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.
CC -!- DISEASE: Spermatogenic failure 46 (SPGF46) [MIM:619095]: An autosomal
CC recessive infertility disorder caused by spermatogenesis defects
CC resulting in asthenoteratozoospermia. SPGF46 is characterized by
CC multiple morphologic abnormalities of sperm flagella with
CC disorganization of axonemal and periaxonemal structures. Flagella are
CC absent, short, coiled, angulated, and/or of irregular caliber.
CC {ECO:0000269|PubMed:32619401, ECO:0000269|PubMed:32681648}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the dynein heavy chain family. {ECO:0000305}.
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DR EMBL; AF356519; AAK60620.1; -; mRNA.
DR EMBL; AL034345; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL035555; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL035690; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353700; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL391415; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z83806; CAB06060.1; -; mRNA.
DR EMBL; AJ132091; CAA10564.1; -; mRNA.
DR RefSeq; NP_001193856.1; NM_001206927.1.
DR RefSeq; XP_011512623.1; XM_011514321.1.
DR SMR; Q96JB1; -.
DR BioGRID; 108108; 10.
DR IntAct; Q96JB1; 3.
DR STRING; 9606.ENSP00000333363; -.
DR CarbonylDB; Q96JB1; -.
DR GlyGen; Q96JB1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96JB1; -.
DR PhosphoSitePlus; Q96JB1; -.
DR BioMuta; DNAH8; -.
DR DMDM; 124007137; -.
DR EPD; Q96JB1; -.
DR MassIVE; Q96JB1; -.
DR MaxQB; Q96JB1; -.
DR PaxDb; Q96JB1; -.
DR PeptideAtlas; Q96JB1; -.
DR PRIDE; Q96JB1; -.
DR ProteomicsDB; 76924; -. [Q96JB1-1]
DR ProteomicsDB; 76925; -. [Q96JB1-2]
DR Antibodypedia; 29878; 49 antibodies from 16 providers.
DR DNASU; 1769; -.
DR Ensembl; ENST00000359357.7; ENSP00000352312.3; ENSG00000124721.18. [Q96JB1-1]
DR GeneID; 1769; -.
DR KEGG; hsa:1769; -.
DR UCSC; uc003ooe.3; human. [Q96JB1-1]
DR CTD; 1769; -.
DR DisGeNET; 1769; -.
DR GeneCards; DNAH8; -.
DR GeneReviews; DNAH8; -.
DR HGNC; HGNC:2952; DNAH8.
DR HPA; ENSG00000124721; Tissue enhanced (epididymis, prostate, testis).
DR MalaCards; DNAH8; -.
DR MIM; 603337; gene.
DR MIM; 619095; phenotype.
DR neXtProt; NX_Q96JB1; -.
DR OpenTargets; ENSG00000124721; -.
DR PharmGKB; PA27405; -.
DR VEuPathDB; HostDB:ENSG00000124721; -.
DR eggNOG; KOG3595; Eukaryota.
DR GeneTree; ENSGT00940000158992; -.
DR HOGENOM; CLU_000038_9_1_1; -.
DR InParanoid; Q96JB1; -.
DR OrthoDB; 6295at2759; -.
DR PhylomeDB; Q96JB1; -.
DR TreeFam; TF316836; -.
DR PathwayCommons; Q96JB1; -.
DR SignaLink; Q96JB1; -.
DR BioGRID-ORCS; 1769; 7 hits in 318 CRISPR screens.
DR ChiTaRS; DNAH8; human.
DR GenomeRNAi; 1769; -.
DR Pharos; Q96JB1; Tbio.
DR PRO; PR:Q96JB1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q96JB1; protein.
DR Bgee; ENSG00000124721; Expressed in sperm and 59 other tissues.
DR ExpressionAtlas; Q96JB1; baseline and differential.
DR Genevisible; Q96JB1; HS.
DR GO; GO:0005858; C:axonemal dynein complex; NAS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0030286; C:dynein complex; IBA:GO_Central.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0036157; C:outer dynein arm; IBA:GO_Central.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0045505; F:dynein intermediate chain binding; IBA:GO_Central.
DR GO; GO:0051959; F:dynein light intermediate chain binding; IBA:GO_Central.
DR GO; GO:0003777; F:microtubule motor activity; IMP:UniProtKB.
DR GO; GO:0008569; F:minus-end-directed microtubule motor activity; IBA:GO_Central.
DR GO; GO:0060285; P:cilium-dependent cell motility; NAS:UniProtKB.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR GO; GO:0036158; P:outer dynein arm assembly; IBA:GO_Central.
DR Gene3D; 1.10.8.710; -; 1.
DR Gene3D; 1.10.8.720; -; 1.
DR Gene3D; 1.20.140.100; -; 1.
DR Gene3D; 3.10.490.20; -; 1.
DR Gene3D; 3.20.180.20; -; 1.
DR Gene3D; 3.40.50.300; -; 5.
DR InterPro; IPR003593; AAA+_ATPase.
DR InterPro; IPR035699; AAA_6.
DR InterPro; IPR035706; AAA_9.
DR InterPro; IPR041658; AAA_lid_11.
DR InterPro; IPR042219; AAA_lid_11_sf.
DR InterPro; IPR026983; DHC_fam.
DR InterPro; IPR041589; DNAH3_AAA_lid_1.
DR InterPro; IPR042222; Dynein_2_N.
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; IPR004273; Dynein_heavy_D6_P-loop.
DR InterPro; IPR013602; Dynein_heavy_linker.
DR InterPro; IPR013594; Dynein_heavy_tail.
DR InterPro; IPR042228; Dynein_linker_3.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR10676; PTHR10676; 1.
DR Pfam; PF12774; AAA_6; 1.
DR Pfam; PF12780; AAA_8; 1.
DR Pfam; PF12781; AAA_9; 1.
DR Pfam; PF17857; AAA_lid_1; 1.
DR Pfam; PF18198; AAA_lid_11; 1.
DR Pfam; PF08385; DHC_N1; 1.
DR Pfam; PF08393; DHC_N2; 1.
DR Pfam; PF17852; Dynein_AAA_lid; 1.
DR Pfam; PF18199; Dynein_C; 1.
DR Pfam; PF03028; Dynein_heavy; 1.
DR Pfam; PF12777; MT; 1.
DR SMART; SM00382; AAA; 3.
DR SUPFAM; SSF52540; SSF52540; 4.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Cell projection; Cilium; Coiled coil;
KW Cytoplasm; Cytoskeleton; Disease variant; Dynein; Flagellum; Microtubule;
KW Motor protein; Nucleotide-binding; Phosphoprotein; Reference proteome;
KW Repeat.
FT CHAIN 1..4490
FT /note="Dynein axonemal heavy chain 8"
FT /id="PRO_0000274044"
FT REGION 1808..2030
FT /note="AAA 1"
FT /evidence="ECO:0000250"
FT REGION 2090..2309
FT /note="AAA 2"
FT /evidence="ECO:0000250"
FT REGION 2416..2669
FT /note="AAA 3"
FT /evidence="ECO:0000250"
FT REGION 2780..3034
FT /note="AAA 4"
FT /evidence="ECO:0000250"
FT REGION 3049..3346
FT /note="Stalk"
FT /evidence="ECO:0000250"
FT REGION 3432..3662
FT /note="AAA 5"
FT /evidence="ECO:0000250"
FT REGION 3877..4091
FT /note="AAA 6"
FT /evidence="ECO:0000250"
FT COILED 3072..3164
FT /evidence="ECO:0000255"
FT COILED 3290..3354
FT /evidence="ECO:0000255"
FT COILED 3594..3630
FT /evidence="ECO:0000255"
FT BINDING 1846..1853
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2128..2135
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT MOD_RES 674
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976"
FT VAR_SEQ 1978..2013
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_022614"
FT VARIANT 71
FT /note="N -> S (in dbSNP:rs6935293)"
FT /id="VAR_030171"
FT VARIANT 473
FT /note="G -> R (in dbSNP:rs1738254)"
FT /id="VAR_030172"
FT VARIANT 573
FT /note="I -> V (in dbSNP:rs3823430)"
FT /evidence="ECO:0000269|PubMed:12297094"
FT /id="VAR_030173"
FT VARIANT 590..4490
FT /note="Missing (found in a patient with primary ciliary
FT dyskinesia; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:24307375"
FT /id="VAR_085187"
FT VARIANT 727
FT /note="A -> T (in dbSNP:rs1678674)"
FT /id="VAR_030174"
FT VARIANT 807
FT /note="G -> E (in dbSNP:rs874808)"
FT /evidence="ECO:0000269|PubMed:12297094"
FT /id="VAR_030175"
FT VARIANT 1202
FT /note="E -> K (in dbSNP:rs9357283)"
FT /evidence="ECO:0000269|PubMed:12297094"
FT /id="VAR_030176"
FT VARIANT 2013
FT /note="K -> R (in SPGF46; unknown pathological
FT significance; dbSNP:rs1563044711)"
FT /evidence="ECO:0000269|PubMed:32619401"
FT /id="VAR_085188"
FT VARIANT 2226
FT /note="T -> M (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036213"
FT VARIANT 2444
FT /note="T -> N (in dbSNP:rs862432)"
FT /id="VAR_030177"
FT VARIANT 2926
FT /note="R -> C (in SPGF46; unknown pathological
FT significance; dbSNP:rs151313083)"
FT /evidence="ECO:0000269|PubMed:32619401"
FT /id="VAR_085189"
FT VARIANT 3707
FT /note="T -> M (in dbSNP:rs61757218)"
FT /evidence="ECO:0000269|PubMed:32619401"
FT /id="VAR_085190"
FT VARIANT 4024
FT /note="A -> T (in SPGF46; unknown pathological
FT significance; dbSNP:rs369473998)"
FT /evidence="ECO:0000269|PubMed:32619401"
FT /id="VAR_085191"
FT VARIANT 4106
FT /note="T -> M (in dbSNP:rs1537232)"
FT /id="VAR_030178"
FT VARIANT 4271
FT /note="I -> V (in dbSNP:rs10484847)"
FT /evidence="ECO:0000269|PubMed:12297094"
FT /id="VAR_030179"
FT CONFLICT 1622
FT /note="A -> T (in Ref. 1; AAK60620)"
FT /evidence="ECO:0000305"
FT CONFLICT 1945..1947
FT /note="IFL -> VFI (in Ref. 3; CAB06060)"
FT /evidence="ECO:0000305"
FT CONFLICT 3495
FT /note="H -> R (in Ref. 1; AAK60620)"
FT /evidence="ECO:0000305"
FT CONFLICT 4118
FT /note="G -> D (in Ref. 1; AAK60620)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 4490 AA; 514664 MW; E5809E32FF08199B CRC64;
MMKLYIDNAA PDKLKGLCIF FVRCRNDVAI NVKTIQEEAL FTVLDASKGL LNGIRDMLAN
IFLPAVLATN NWGALNQSKQ GESEKHIFTE TINRYLSFLD GARISIEGTV KLKTIDNVNF
SKLHTFEEVT AAASNSETVH QLEEVLMVWY KQIEQVLIES EQMRKEAGDS GPLTELEHWK
RMSAKFNYII EQIKGPSCKA VINVLNVAHS KLLKNWRDLD ARITDTANES KDNVRYLYTL
EKVCQPLYNH DLVSMAHGIQ NLINAIRMIH GVSRYYNTSE RMTSLFIKVT NQMVTACKAY
ITDGGLNHVW DQETPVVLKK IQDCIFLFKE YQASFHKTRK LISESSGEKS FEVSEMYIFG
KFEAFCKRLE KITEMITVVQ TYSTLSNSTI EGIDIMAIKF RNIYQGVKKK QYDILDPRRT
EFDTDFLDFM TKINGLEVQI QAFMNSSFGK ILSSQQALQL LQRFQKLNIP CLGLEINHTI
ERILQYYVAE LDATKKLYHS QKDDPPLARN MPPIAGKILW VRQLYRRISE PINYFFKNSD
ILSSPDGKAV IRQYNKISYV LVEFEVVYHT AWIREISQLH YALQATLFVR HPETGKLLVN
FDPKILEVVR ETKCMIKMKL DVPEQAKRLL KLESKLKADK LYLQGLLQYY DELCQEVPSV
FVNLMTPKMK KVESVLRQGL TVLTWSSLTL ESFFQEVELV LDMFNQLLKK ISDLCEMHID
TVLKEIAKTV LISLPESGAT KVEDMLTLNE TYTKEWADIL NHKSKHVEEA VRELISIFEQ
IYEVKYTGKV GKQSEQRKHV VFGSETGEGE NNDYEANIVN EFDTHDKEDE FKKECKEVFA
FFSHQLLDSL QKATRLSLDT MKRRIFVASL YGRKQSEDII SFIKSEVHLA IPNVVMIPSL
DDIQQAINRM IQLTLEVSRG VAHWGQQQIR PIKSVIPSPT TTDVTHQNTG KLLKKEERSF
EEAIPARKLK NFYPGVAEHK DISKLVLLLS SSVNSLRKAA HEALQDFQKY KTLWTEDRDV
KVKEFLANNP SLTEIRSEIL HYATFEQEID ELKPIIVVGA LELHTEPMKL ALSIEAKAWK
MLLCRYLNEE YKKKMSYMIA FINEYLKKLS RPIRDLDDVR FAMEALSCIR DNEIQMDMTL
GPIEEAYAIL NRFEVEVTKE ESEAVDTLRY SFNKLQSKAV SVQEDLVQVQ PKFKSNLLES
VEVFREDVIN FAEAYELEGP MVPNIPPQEA SNRLQIFQAS FDDLWRKFVT YSSGEQLFGL
PVTDYEVLHK TRKELNLLQK LYGLYDTVMS SISGYYEILW GDVDIEKINA ELLEFQNRCR
KLPKGLKDWQ AFLDLKKRID DFSESCPLLE MMTNKAMKQR HWDRISELTG TPFDVESDSF
CLRNIMEAPL LKHKDDIEDI CISAIKEKDI EAKLTQVIEN WTNQNLSFAA FKGKGELLLK
GTESGEIITL MEDSLMVLGS LLSNRYNAPF KKNIQNWVYK LSTSSDIIEE WLVVQNLWVY
LEAVFVGGDI AKQLPQEAKR FQNIDKSWIK IMQRAHENPN VINCCVGDET MGQLLPHLHE
QLEVCQKSLT GYLEKKRLLF PRFFFVSDPV LLEILGQASD SHTIQPHLPA VSDNINEVTF
HAKDYDRIMA VISREGEKIV LDNSVMAKGP VEIWLLDLLK MQMSSLHNII RSAFYQISDS
GFQLLPFLSH FPAQVGLLGI QMLWTHDSEE ALRNAKDDRK IMQVTNQKFL DILNTLISQT
THDLSKFDRV KFETLITIHV HQRDIFDDLV KMHIKSPTDF EWLKQSRFYF KEDLDQTVVS
ITDVDFIYQN EFLGCTDRLV ITPLTDRCYI TLAQALGMNM GGAPAGPAGT GKTETTKDMG
RCLGKYVVVF NCSDQMDFRG LGRIFKGLAQ SGSWGCFDEF NRIELPVLSV AAQQIYIVLT
ARKERKKQFI FSDGDCVDLN PEFGIFLTMN PGYAGRQELP ENLKIQFRTV AMMVPDRQII
MRVKLASCGF LENVILAQKF YVLYKLCEEQ LTKQVHYDFG LRNILSVLRT LGSQKRARPE
DSELSIVMRG LRDMNLSKLV DEDEPLFLSL INDLFPGLQL DSNTYAELQN AVAHQVQIEG
LINHPPWNLK LVQLYETSLV RHGLMTLGPS GSGKTTVITI LMKAQTECGR PHREMRMNPK
AITAPQMFGR LDTATNDWTD GIFSTLWRKT LKAKKGENIF LILDGPVDAI WIENLNSVLD
DNKTLTLANG DRIPMAPSCK LLFEVHNIEN ASPATVSRMG MVYISSSALS WRPILQAWLK
KRTAQEAAVF LTLYEKVFED TYTYMKLNLN PKMQLLECNY IVQSLNLLEG LIPSKEEGGV
SCVEHLHKLF VFGLMWSLGA LLELESREKL EAFLRQHESK LDLPEIPKGS NQTMYEFYVT
DYGDWEHWNK KLQPYYYPTD SIPEYSSILV PNVDNIRTNF LIDTIAKQHK AVLLTGEQGT
AKTVMVKAYL KKYDPEVQLS KSLNFSSATE PMMFQRTIES YVDKRIGSTY GPPGGRKMTV
FIDDINMPVI NEWGDQITNE IVRQMMEMEG MYSLDKPGDF TTIVDVQLIA AMIHPGGGRN
DIPQRLKRQF TVFNCTLPSN ASIDKIFGII GCGYFDPCRS FKPQICEMIV NLVSVGRVLW
QWTKVKMLPT PSKFHYIFNL RDLSRIWQGM LTIKAEECAS IPTLLSLFKH ECSRVIADRF
ITPEDEQWFN AHLTRAVEEN IGSDAASCIL PEPYFVDFLR EMPEPTGDEP EDSVFEVPKI
YELMPSFDFL AEKLQFYQRQ FNEIIRGTSL DLVFFKDAMT HLIKISRIIR TSCGNALLVG
VGGSGKQSLS RLASFIAGYQ IFQITLTRSY NVTNLTDDLK ALYKVAGADG KGITFIFTDS
EIKDEAFLEY LNNLLSSGEI SNLFARDEMD EITQGLISVM KRELPRHPPT FDNLYEYFIS
RSRKNLHVVL CFSPVGEKFR ARSLKFPGLI SGCTMDWFSR WPREALIAVA SYFLSDYNIV
CSSEIKRQVV ETMGLFHDMV SESCESYFQR YRRRAHVTPK SYLSFINGYK NIYAEKVKFI
NEQAERMNIG LDKLMEASES VAKLSQDLAV KEKELAVASI KADEVLAEVT VSAQASAKIK
NEVQEVKDKA QKIVDEIDSE KVKAESKLEA AKPALEEAEA ALNTIKPNDI ATVRKLAKPP
HLIMRIMDCV LLLFQKKIDP VTMDPEKSCC KPSWGESLKL MSATGFLWSL QQFPKDTINE
ETVELLQPYF NMDDYTFESA KKVCGNVAGL LSWTLAMAIF YGINREVLPL KANLAKQEGR
LAVANAELGK AQALLDEKQA ELDKVQAKFD AAMNEKMDLL NDADTCRKKM QAASTLIDGL
SGEKIRWTQQ SKEFKAQINR LVGDILLCTG FLSYLGPFNQ IFRNYLLKDQ WEMELRARKI
PFTENLNLIS MLVDPPTIGE WGLQGLPGDD LSIQNGIIVT KATRYPLLID PQTQGKTWIK
SKEKENDLQV TSLNHKYFRT HLEDSLSLGR PLLIEDIHEE LDPALDNVLE KNFIKSGTTF
KVKVGDKECD IMDTFKLYIT TKLPNPAFTP EINAKTSVID FTVTMKGLEN QLLRRVILTE
KQELEAERVK LLEDVTFNKR KMKELEDNLL YKLSATKGSL VDDESLIGVL RTTKQTAAEV
SEKLHVAAET EIKINAAQEE FRPAATRGSI LYFLITEMSM VNIMYQTSLA QFLKLFDQSM
ARSEKSPLPQ KRITNIIEYL TYEVFTYSVR GLYENHKFLF VLLMTLKIDL QRGTVKHREF
QALIKGGAAL DLKACPPKPY RWILDMTWLN LVELSKLPQF AEIMNQISRN EKGWKSWFDK
DAPEEEIIPD GYNDSLDTCH KLLLIRSWCP DRTVFQARKY IADSLEEKYT EPVILNLEKT
WEESDTRTPL ICFLSMGSDP TNQIDALAKK LKLECRTISM GQGQEVHARK LIQMSMQQGG
WVLLQNCHLG LEFMEELLET LITTEASDDS FRVWITTEPH DRFPITLLQT SLKFTNEPPQ
GVRAGLKRTF AGINQDLLDI SNLPMWKPML YTVAFLHSTV QERRKFGPLG WNIPYEFNSA
DFSASVQFIQ NHLDECDIKK GVSWNTVRYM IGEVQYGGRV TDDFDKRLLN CFARVWFSEK
MFEPSFCFYT GYKIPLCKTL DQYFEYIQSL PSLDNPEVFG LHPNADITYQ SNTASAVLET
ITNIQPKESG GGVGETREAI VYRLSEDMLS KLPPDYIPHE VKSRLIKMGH LNSMNIFLRQ
EIDRMQRVIS ILRSSLSDLK LAIEGTIIMS ENLRDALDNM YDARIPQLWK RVSWDSSTLG
FWFTELLERN AQFSTWIFEG RPNVFWMTGF FNPQGFLTAM RQEVTRAHKG WALDTVTIHN
EVLRQTKEEI TSPPGEGVYI YGLYMDGAAW DRRNGKLMES TPKVLFTQLP VLHIFAINST
APKDPKLYVC PIYKKPRRTD LTFITVVYLR TVLSPDHWIL RGVALLCDIK
