DYH6_HUMAN
ID DYH6_HUMAN Reviewed; 4158 AA.
AC Q9C0G6; A0PJN9; B5MEE0; B7ZL99; O95493; Q53QZ1; Q53TE5; Q8N1W6; Q92861;
AC Q96BL6; Q9H030; Q9H5E1;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 3.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Dynein axonemal heavy chain 6 {ECO:0000305};
DE AltName: Full=Axonemal beta dynein heavy chain 6;
DE AltName: Full=Ciliary dynein heavy chain 6;
GN Name=DNAH6 {ECO:0000312|HGNC:HGNC:2951};
GN Synonyms=DNAHC6, DNHL1, HL2, KIAA1697;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 3573-4158 (ISOFORM 1).
RC TISSUE=Amygdala, and Lung;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lymph node;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1925-4158 (ISOFORM 4), AND NUCLEOTIDE SEQUENCE [LARGE
RP SCALE MRNA] OF 2578-4158 (ISOFORM 1).
RC TISSUE=Brain, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1448-1527 (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=8812413; DOI=10.1006/geno.1996.0422;
RA Vaughan K.T., Mikami A., Paschal B.M., Holzbaur E.L.F., Hughes S.M.,
RA Echeverri C.J., Moore K.J., Gilbert D.J., Copeland N.G., Jenkins N.A.,
RA Vallee R.B.;
RT "Multiple mouse chromosomal loci for dynein-based motility.";
RL Genomics 36:29-38(1996).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1476-1576 (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Nasal polyp;
RX PubMed=11175280; DOI=10.1038/sj.ejhg.5200555;
RA Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Zeigler A., Bouvagnet P.;
RT "Identification, tissue specific expression, and chromosomal localisation
RT of several human dynein heavy chain genes.";
RL Eur. J. Hum. Genet. 8:923-932(2000).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1977-4158 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [9]
RP SEQUENCE REVISION.
RA Ohara O., Nagase T., Kikuno R.;
RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP TISSUE SPECIFICITY, AND VARIANT GLN-3471.
RX PubMed=28206990; DOI=10.1038/gim.2016.225;
RA Gershoni M., Hauser R., Yogev L., Lehavi O., Azem F., Yavetz H.,
RA Pietrokovski S., Kleiman S.E.;
RT "A familial study of azoospermic men identifies three novel causative
RT mutations in three new human azoospermia genes.";
RL Genet. Med. 19:998-1006(2017).
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 (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: The dynein complex consists of at least two heavy chains and a
CC number of intermediate and light chains. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9C0G6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9C0G6-2; Sequence=VSP_031122, VSP_031129, VSP_031130;
CC Name=3;
CC IsoId=Q9C0G6-3; Sequence=VSP_031123, VSP_031124, VSP_031125;
CC Name=4;
CC IsoId=Q9C0G6-4; Sequence=VSP_031126, VSP_031127, VSP_031128;
CC -!- TISSUE SPECIFICITY: Expressed in several tissues, including brain,
CC pituitary, testis and trachea, with highest levels in testis.
CC {ECO:0000269|PubMed:11175280, ECO:0000269|PubMed:28206990}.
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=AAH15442.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAX93115.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAB15685.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK027182; BAB15685.1; ALT_FRAME; mRNA.
DR EMBL; AK094676; BAC04400.1; -; mRNA.
DR EMBL; AL512706; CAC21651.1; -; mRNA.
DR EMBL; AC010087; AAX93108.1; -; Genomic_DNA.
DR EMBL; AC096770; AAY24108.1; -; Genomic_DNA.
DR EMBL; AC098975; AAX93115.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AC109827; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471053; EAW99557.1; -; Genomic_DNA.
DR EMBL; BC015442; AAH15442.1; ALT_INIT; mRNA.
DR EMBL; BC104884; AAI04885.1; -; mRNA.
DR EMBL; BC113424; AAI13425.1; -; mRNA.
DR EMBL; BC117259; AAI17260.1; -; mRNA.
DR EMBL; BC143666; AAI43667.1; -; mRNA.
DR EMBL; U61736; AAC50700.1; -; mRNA.
DR EMBL; AJ132086; CAA10559.1; -; mRNA.
DR EMBL; AB051484; BAB21788.2; -; mRNA.
DR CCDS; CCDS46348.1; -. [Q9C0G6-1]
DR RefSeq; NP_001361.1; NM_001370.1. [Q9C0G6-1]
DR RefSeq; XP_006712019.1; XM_006711956.2. [Q9C0G6-1]
DR RefSeq; XP_011530951.1; XM_011532649.2. [Q9C0G6-1]
DR RefSeq; XP_011530952.1; XM_011532650.2. [Q9C0G6-1]
DR SMR; Q9C0G6; -.
DR BioGRID; 108107; 8.
DR IntAct; Q9C0G6; 6.
DR STRING; 9606.ENSP00000374045; -.
DR iPTMnet; Q9C0G6; -.
DR PhosphoSitePlus; Q9C0G6; -.
DR BioMuta; DNAH6; -.
DR DMDM; 166922150; -.
DR EPD; Q9C0G6; -.
DR jPOST; Q9C0G6; -.
DR MassIVE; Q9C0G6; -.
DR PaxDb; Q9C0G6; -.
DR PeptideAtlas; Q9C0G6; -.
DR PRIDE; Q9C0G6; -.
DR ProteomicsDB; 80034; -. [Q9C0G6-1]
DR ProteomicsDB; 80035; -. [Q9C0G6-2]
DR ProteomicsDB; 80036; -. [Q9C0G6-3]
DR ProteomicsDB; 80037; -. [Q9C0G6-4]
DR Antibodypedia; 31722; 55 antibodies from 16 providers.
DR DNASU; 1768; -.
DR Ensembl; ENST00000389394.8; ENSP00000374045.3; ENSG00000115423.19. [Q9C0G6-1]
DR GeneID; 1768; -.
DR KEGG; hsa:1768; -.
DR MANE-Select; ENST00000389394.8; ENSP00000374045.3; NM_001370.2; NP_001361.1.
DR UCSC; uc002sor.4; human. [Q9C0G6-1]
DR CTD; 1768; -.
DR DisGeNET; 1768; -.
DR GeneCards; DNAH6; -.
DR HGNC; HGNC:2951; DNAH6.
DR HPA; ENSG00000115423; Tissue enhanced (brain, choroid plexus, fallopian tube).
DR MIM; 603336; gene.
DR neXtProt; NX_Q9C0G6; -.
DR OpenTargets; ENSG00000115423; -.
DR PharmGKB; PA27404; -.
DR VEuPathDB; HostDB:ENSG00000115423; -.
DR eggNOG; KOG3595; Eukaryota.
DR GeneTree; ENSGT00940000154761; -.
DR HOGENOM; CLU_000038_0_0_1; -.
DR InParanoid; Q9C0G6; -.
DR OMA; VESFDWQ; -.
DR OrthoDB; 1492at2759; -.
DR PhylomeDB; Q9C0G6; -.
DR TreeFam; TF352520; -.
DR PathwayCommons; Q9C0G6; -.
DR SignaLink; Q9C0G6; -.
DR BioGRID-ORCS; 1768; 13 hits in 1074 CRISPR screens.
DR ChiTaRS; DNAH6; human.
DR GenomeRNAi; 1768; -.
DR Pharos; Q9C0G6; Tdark.
DR PRO; PR:Q9C0G6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9C0G6; protein.
DR Bgee; ENSG00000115423; Expressed in epithelium of bronchus and 128 other tissues.
DR Genevisible; Q9C0G6; HS.
DR GO; GO:0005858; C:axonemal dynein complex; IEA:InterPro.
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:0016887; F:ATP hydrolysis activity; IEA:InterPro.
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:0008569; F:minus-end-directed microtubule motor activity; IBA:GO_Central.
DR GO; GO:0060285; P:cilium-dependent cell motility; IEA:InterPro.
DR GO; GO:0007018; P:microtubule-based movement; 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; IPR041589; DNAH3_AAA_lid_1.
DR InterPro; IPR026980; DNAH6/14.
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; IPR042228; Dynein_linker_3.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR46454:SF6; PTHR46454:SF6; 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; 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; 4.
DR SUPFAM; SSF52540; SSF52540; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Cell projection; Cilium; Coiled coil;
KW Cytoplasm; Cytoskeleton; Dynein; Microtubule; Motor protein;
KW Nucleotide-binding; Reference proteome; Repeat.
FT CHAIN 1..4158
FT /note="Dynein axonemal heavy chain 6"
FT /id="PRO_0000317665"
FT REGION 1..1433
FT /note="Stem"
FT /evidence="ECO:0000250"
FT REGION 1434..1655
FT /note="AAA 1"
FT /evidence="ECO:0000250"
FT REGION 1715..1948
FT /note="AAA 2"
FT /evidence="ECO:0000250"
FT REGION 2058..2306
FT /note="AAA 3"
FT /evidence="ECO:0000250"
FT REGION 2408..2659
FT /note="AAA 4"
FT /evidence="ECO:0000250"
FT REGION 2676..2961
FT /note="Stalk"
FT /evidence="ECO:0000250"
FT REGION 3042..3272
FT /note="AAA 5"
FT /evidence="ECO:0000250"
FT REGION 3509..3730
FT /note="AAA 6"
FT /evidence="ECO:0000250"
FT COILED 805..859
FT /evidence="ECO:0000255"
FT COILED 2901..2996
FT /evidence="ECO:0000255"
FT BINDING 192..199
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 1472..1479
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 1753..1760
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2096..2103
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 2447..2454
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..3241
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031122"
FT VAR_SEQ 1..421
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031123"
FT VAR_SEQ 828..829
FT /note="DP -> VS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031124"
FT VAR_SEQ 830..4158
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031125"
FT VAR_SEQ 2306..2355
FT /note="GILQCDPGTIREEIQIFRLFCHECQRVFHDRLINNEDKHYFHVILTEMAN
FT -> D (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031126"
FT VAR_SEQ 2561..2579
FT /note="FQYFISKVRQKLHIVLCMS -> GCARVVMWLYHKNVSSPFI (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031127"
FT VAR_SEQ 2580..4158
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031128"
FT VAR_SEQ 3828..3833
FT /note="YKETST -> VCGLSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031129"
FT VAR_SEQ 3834..4158
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031130"
FT VARIANT 3471
FT /note="H -> Q (found in a patient with azoospermia; unknown
FT pathological significance; dbSNP:rs61731722)"
FT /evidence="ECO:0000269|PubMed:28206990"
FT /id="VAR_080035"
FT CONFLICT 1504
FT /note="Y -> C (in Ref. 7; CAA10559)"
FT /evidence="ECO:0000305"
FT CONFLICT 1521
FT /note="C -> G (in Ref. 6; AAC50700)"
FT /evidence="ECO:0000305"
FT CONFLICT 3716
FT /note="F -> S (in Ref. 1; BAB15685)"
FT /evidence="ECO:0000305"
FT CONFLICT 3965
FT /note="K -> R (in Ref. 1; BAB15685)"
FT /evidence="ECO:0000305"
FT CONFLICT 4151
FT /note="A -> V (in Ref. 1; BAB15685)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 4158 AA; 475983 MW; 8ADAA07BC375F683 CRC64;
MTFRATDSEF DLTNIEEYAE NSALSRLNNI KAKQRVSYVT STENESDTQI LTFRHITKAQ
EKTRKRQQPI KLEPLPVLKV YQDHKQPEYI HEQNRFQLMT AGIIKRPVSI AKKSFATSST
QFLEHQDAVK KMQIHRPYVE VFSPSPPKLP HTGIGKRGLF GTRSSAYPKY TFHDREEVVK
ANIRDPLQII KIIRENEHLG FLYMIPAVPR SSIEYDTYNL KVVSYENINK NDYYTISQRA
VTHIYNEDIE FIEIDRWEQE YLYHRELTKI PIFSLFRKWK AFSVWRKNVR SKKITGCQKS
LQKNLFIVNP HLRPALLKIN ELCYHLSFMG LCYIEKCHTY TLQEFKAAQV IRLAEVTERL
GEFRNEAKYV VRRACRFALR AAGFVPDDCA FGPFEDYHKV QSSGSFINTP HELPTYGDSE
KMTYTEQASK RHYCMRLTCF IRLNDYLIEN TMHILTVNAV NSLLNHLTDK LKRTPSADVI
QKWITEEKPE VPDKKGTLMV EKQEEDESLI PMFLTELMLT VQSLLFEPSL EDFLDGILGA
VNHCQNTVLS VPNLVPDSYF DAFTSPYINN KLEGKTCGTG PSLAAVFEDD KNFHTIISQI
KETIQAAFES ARIYAATFEK FQIFFKENES LDLQALKLQE PDINFFSEQL EKYHKQHKDA
VALRPTRNVG LLLIDTRLLR EKLIPSPLRC LEVLNFMLPR QSKKKVDAII FEAQDAEYKL
EFVPTTTTEY VHSLLFLDEI QERIESLEDE GNIVTQMYKL MEQYQVPTPP EDFAVFATMK
PSIVAVRNAI DKSVGDRESS IKQFCVHLGS DLEELNNEVN EVKLQAQDPQ ILDISADQDK
IRLILNNLQS VLADLQKRAF QYKSYQKNFK VEVSKFEALE EVSAELKLKQ LLWDSFSEWD
KLQQEWLKSK FDCLDPEVLN GQVSKYAKFV TQLEKGLPPN SVVPQLKYKV EKMKEKLPVI
IDLRNPTLKA RHWAAIEQTV DATLVDAEIP LTLERLSQLH VFDFGQEIQD ISGQASGEAA
LEAILKKVED SWKTTEFVIL PHRDSKDVFI LGGTDDIQVL LDDSTINVAT LASSRYLGPL
KTRVDEWQKQ LALFNQTLEE WLTCQRNWLY LESIFNAPDI QRQLPAEAKM FLQVDKSWKE
IMRKVNRLPN ALRAATQPGL LETFQNNNAL LDQIQKCLEA YLESKRVIFP RFYFLSNDEL
LEILAQTRNP QAVQPHLRKC FDSISKLEFA LMPPAEGKIP GIDGEPEKVY TNDILAMLSP
EGERVSLGKG LKARGNVEEW LGKVEEAMFT SLRRLCKAAI ADYQGKLRTD WVVAGHPSQV
ILTVSQIMWC RDLTECLETE HSNHIQALKN FEKVNFERLN ALAAIVQGSL PKLHRNILTA
LITIDVHARD IVTELVQSKV ETVESFDWQR QLRYYWDIDL DNCVARMALS QYTYGYEYLG
ACPRLVITPL TDRCYLCLMG ALQLDLGGAP AGPAGTGKTE TTKDLAKALA IQCVVFNCSD
GLDYKMMGRF FSGLAQSGAW CCFDEFNRID IEVLSVIAQQ LITIRNAKAA KLSRFMFEGR
EIKLVMTCAA FITMNPGYAG RTELPDNLKA LFRPFAMMVP NYALIAEVIL YSEGFESSKI
LARKMTQMYK LCSEQLSQQD HYDFGMRAVK SVLVMAGSLK RENPDLNEDV VLIRALQDSN
LPKFLTDDAL LFSGIISDLF PGVQIPEHDY GILQSTIVDV MNRQNLQPEM CMVRKVIQFY
ETMLVRHGVM LVGPTGGGKT TVYRILAETL GNLQKLGIEN SFYQAVKTYV LNPKSITMGE
LYGEVNNLTL EWKDGLMALS VRAAVNDTSE DHKWIISDGP VDALWIENMN TVLDDNKMLC
LANSERIKLT PQIHMLFEVQ DLRVASPATV SRCGMVFVDP EELKWMPYVK TWMKGISKKL
TEETQEYILN LFQRYVDEGL HFINKKCSQA IPQVDISKVT TLCCLLESLI LGKDGVNLAM
EQTKLNTILC QTFVFCYLWS LGGNLTENYY DSFDTFIRTQ FDDNPDARLP NSGDLWSIHM
DFDTKRLDPW ERIIPTFKYN RDVPFFEMLV PTTDTVRYGY LMEKLLAVKH SVLFTGITGV
GKSVIAKGLL NKIQESAGYV PVYLNFSAQT SSARTQEIIE SKLERKRKNI LGAPGNKRIV
IFVDDLNMPR LDRYGSQPPI ELLRQYQDFG GFYDRNKLFW KEIQDVTIIS ACAPPGGGRN
PVTPRFIRHF SMLCLPMPSE HSLKQIFQAI LNGFLSDFPP AVKQTASSIV EASVEIYNKM
SVDLLPTPAK SHYVFNLRDL SKCVQGILQC DPGTIREEIQ IFRLFCHECQ RVFHDRLINN
EDKHYFHVIL TEMANKHFGI AIDLEYFLNK PIIFGDFIKF GADKADRIYD DMPDIEKTAN
VLQDYLDDYN LTNPKEVKLV FFQDAIEHVS RIARMIRQER GNALLVGVGG TGKQSLTRLA
AHICGYKCLQ IELSRGYNYD SFHEDLRKLY KMAGVEDKNM VFLFTDTQIV VEEFLEDINN
ILNSGEVPNL FEKDELEQVL AATRPRAKEV GISEGNRDEV FQYFISKVRQ KLHIVLCMSP
VGEAFRSRCR MFPSLVNCCT IDWFVQWPRE ALLSVSKTFF SQVDAGNEEL KEKLPLMCVN
VHLSVSSMAE RYYNELRRRY YTTPTSYLEL INLYLSMLSE KRKQIISARD RVKNGLTKLL
ETNILVDKMK LDLSALEPVL LAKSEDVEAL MEKLAVDQES ADQVRNTVQE DEATAKVKAE
ETQAIADDAQ RDLDEALPAL DAANKALDSL DKADISEIRV FTKPPDLVMT VMEAISILLN
AKPDWPSAKQ LLGDSNFLKR LLEYDKENIK PQILAKLQKY INNPDFVPEK VEKVSKACKS
MCMWVRAMDL YSRVVKVVEP KRQKLRAAQA ELDITMATLR EKQALLRQVE DQIQALQDEY
DKGVNEKESL AKTMALTKAR LVRAGKLTAA LEDEQVRWEE SIQKFEEEIS NITGNVFIAA
ACVAYYGAFT AQYRQSLIEC WIQDCQSLEI PIDPSFSLIN ILGDPYEIRQ WNTDGLPRDL
ISTENGILVT QGRRWPLMID PQDQANRWIR NKESKSGLKI IKLTDSNFLR ILENSIRLGL
PVLLEELKET LDPALEPILL KQIFISGGRL LIRLGDSDID YDKNFRFYMT TKMPNPHYLP
EVCIKVTIIN FTVTKSGLED QLLSDVVRLE KPRLEEQRIK LIVRINTDKN QLKTIEEKIL
RMLFTSEGNI LDNEELIDTL QDSKITSGAI KTRLEEAEST EQMINVAREK YRPVATQGSV
MYFVIASLSE IDPMYQYSLK YFKQLFNTTI ETSVKTENLQ QRLDVLLEQT LLTAYVNVSR
GLFEQHKLIY SFMLCVEMMR QQGTLSDAEW NFFLRGSAGL EKERPPKPEA PWLPTATWFA
CCDLEESFPV FHGLTQNILS HPISIRLGSF ETYINPQKWE GYSKMKHEDK HMRQEKEAAH
QDPWSAGLSS FHKLILIKCC KEEKVVFALT DFVIENLGKQ FIETPPVDLP TLYQDMSCNT
PLVFILSTGS DPMGAFQRFA RESGYSERVQ SISLGQGQGP IAEKMVKDAM KSGNWVFLQN
CHLAVSWMLA MEELIKTFTD PDSAIKDTFR LFLSSMPSNT FPVTVLQNSV KVTNEPPKGL
RANIRRAFTE MTPSFFEENI LGKKWRQIIF GICFFHAIIQ ERKKFGPLGW NICYEFNDSD
RECALLNLKL YCKEGKIPWD ALIYITGEIT YGGRVTDSWD QRCLRTILKR FFSPETLEED
YKYSESGIYF APMADSLQEF KDYIENLPLI DDPEIFGMHE NANLVFQYKE TSTLINTILE
VQPRSSTGGE GKSNDEIVQE LVASVQTRVP EKLEMEGASE SLFVKDLQGR LNSLTTVLGQ
EVDRFNNLLK LIHTSLETLN KAIAGFVVMS EEMEKVYNSF LNNQVPALWS NTAYPSLKPL
GSWVKDLILR TSFVDLWLKR GQPKSYWISG FFFPQGFLTG TLQNHARKYN LPIDELSFKY
SVIPTYRDQA AVIEAAKTVQ FGQELPMDME LPSPEDGVLV HGMFMDASRW DDKEMVIEDA
LPGQMNPVLP VVHFEPQQNY KPSPTLYHCP LYKTGARAGT LSTTGHSTNF VVTVLLPSKR
SKDYWIAKGS ALLCQLSE
