SPEF2_HUMAN
ID SPEF2_HUMAN Reviewed; 1822 AA.
AC Q9C093; Q2TAC9; Q96LL6; Q9H5C7; Q9H5Q7;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Sperm flagellar protein 2;
DE AltName: Full=Protein KPL2;
GN Name=SPEF2; Synonyms=KIAA1770, KPL2;
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] (ISOFORMS 3 AND 4), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1149-1822 (ISOFORM 1).
RC TISSUE=Lung, and Testis;
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 3), AND VARIANTS HIS-71 AND
RP ASN-500.
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 512-1822 (ISOFORM 2), AND
RP VARIANTS VAL-904 AND PRO-934.
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 [4]
RP INTERACTION WITH IFT20.
RX PubMed=19889948; DOI=10.1095/biolreprod.108.074971;
RA Sironen A., Hansen J., Thomsen B., Andersson M., Vilkki J., Toppari J.,
RA Kotaja N.;
RT "Expression of SPEF2 during mouse spermatogenesis and identification of
RT IFT20 as an interacting protein.";
RL Biol. Reprod. 82:580-590(2010).
RN [5]
RP INVOLVEMENT IN SPGF43, FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=31278745; DOI=10.1111/cge.13602;
RA Sha Y., Liu W., Wei X., Zhu X., Luo X., Liang L., Guo T.;
RT "Biallelic mutations in Sperm flagellum 2 cause human multiple
RT morphological abnormalities of the sperm flagella (MMAF) phenotype.";
RL Clin. Genet. 96:385-393(2019).
RN [6]
RP VARIANT SPGF43 1368-GLU--LYS-1822 DEL, CHARACTERIZATION OF VARIANT SPGF43
RP 1368-GLU--LYS-1822 DEL, FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=31151990; DOI=10.1136/jmedgenet-2018-105952;
RA Liu W., Sha Y., Li Y., Mei L., Lin S., Huang X., Lu J., Ding L., Kong S.,
RA Lu Z.;
RT "Loss-of-function mutations in SPEF2 cause multiple morphological
RT abnormalities of the sperm flagella (MMAF).";
RL J. Med. Genet. 56:678-684(2019).
RN [7]
RP VARIANT SPGF43 304-ARG--LYS-1822 DEL, CHARACTERIZATION OF VARIANT SPGF43
RP 304-ARG--LYS-1822 DEL, FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=31048344; DOI=10.1136/jmedgenet-2019-106011;
RA Liu C., Lv M., He X., Zhu Y., Amiri-Yekta A., Li W., Wu H., Kherraf Z.E.,
RA Liu W., Zhang J., Tan Q., Tang S., Zhu Y.J., Zhong Y., Li C., Tian S.,
RA Zhang Z., Jin L., Ray P., Zhang F., Cao Y.;
RT "Homozygous mutations in SPEF2 induce multiple morphological abnormalities
RT of the sperm flagella and male infertility.";
RL J. Med. Genet. 57:31-37(2020).
CC -!- FUNCTION: Required for correct axoneme development in spermatozoa.
CC Important for normal development of the manchette and sperm head
CC morphology. Essential for male fertility. Plays a role in localization
CC of the intraflagellar transport protein IFT20 to the manchette,
CC suggesting function as an adapter for dynein-mediated protein transport
CC during spermatogenesis (PubMed:31278745, PubMed:31151990,
CC PubMed:31048344). Also plays a role in bone growth where it seems to be
CC required for normal osteoblast differentiation (By similarity).
CC {ECO:0000250|UniProtKB:Q8C9J3, ECO:0000269|PubMed:31048344,
CC ECO:0000269|PubMed:31151990, ECO:0000269|PubMed:31278745}.
CC -!- SUBUNIT: Interacts (via C-terminus) with IFT20 (PubMed:19889948).
CC Interacts with DYNC1I2 (By similarity). {ECO:0000250|UniProtKB:Q8C9J3,
CC ECO:0000269|PubMed:19889948}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:31048344, ECO:0000269|PubMed:31151990,
CC ECO:0000269|PubMed:31278745}. Cytoplasm {ECO:0000250|UniProtKB:Q8C9J3}.
CC Golgi apparatus {ECO:0000250|UniProtKB:Q8C9J3}. Note=Shows dynamic
CC localization in developing spermatozoa. Localizes to the manchette in
CC step 10-12 elongating spermatids. Detected in the basal body and neck
CC area of step 13-14 spermatids. Localizes to the midpiece of the sperm
CC tail in step 15-16 spermatids. During the epididymal transport of
CC spermatozoa, expression in the sperm tail reduces and becomes
CC concentrated at the distal part of the midpiece. Detected in the Golgi
CC apparatus of late spermatocytes and round spermatids. Detected in the
CC cytoplasm of Sertoli cells. {ECO:0000250|UniProtKB:Q8C9J3}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9C093-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9C093-2; Sequence=VSP_027524, VSP_027525;
CC Name=3;
CC IsoId=Q9C093-3; Sequence=VSP_027522, VSP_027523;
CC Name=4;
CC IsoId=Q9C093-4; Sequence=VSP_027521;
CC -!- DISEASE: Spermatogenic failure 43 (SPGF43) [MIM:618751]: An autosomal
CC recessive infertility disorder characterized by asthenospermia due to
CC multiple morphologic abnormalities of sperm flagella, including short,
CC absent, coiled, and bent flagella. {ECO:0000269|PubMed:31048344,
CC ECO:0000269|PubMed:31151990, ECO:0000269|PubMed:31278745}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- MISCELLANEOUS: [Isoform 4]: 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 -!- SEQUENCE CAUTION:
CC Sequence=BAB15700.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK026817; BAB15563.1; -; mRNA.
DR EMBL; AK027230; BAB15700.1; ALT_INIT; mRNA.
DR EMBL; AK058124; BAB71674.1; -; mRNA.
DR EMBL; BC110984; AAI10985.1; -; mRNA.
DR EMBL; AB051557; BAB21861.1; -; mRNA.
DR CCDS; CCDS3910.1; -. [Q9C093-3]
DR CCDS; CCDS43309.1; -. [Q9C093-1]
DR RefSeq; NP_079143.3; NM_024867.3. [Q9C093-1]
DR RefSeq; NP_653323.1; NM_144722.3. [Q9C093-3]
DR RefSeq; XP_005248434.1; XM_005248377.3. [Q9C093-2]
DR AlphaFoldDB; Q9C093; -.
DR SMR; Q9C093; -.
DR BioGRID; 123002; 8.
DR CORUM; Q9C093; -.
DR IntAct; Q9C093; 9.
DR STRING; 9606.ENSP00000348314; -.
DR CarbonylDB; Q9C093; -.
DR iPTMnet; Q9C093; -.
DR PhosphoSitePlus; Q9C093; -.
DR BioMuta; SPEF2; -.
DR DMDM; 156630941; -.
DR EPD; Q9C093; -.
DR MassIVE; Q9C093; -.
DR PaxDb; Q9C093; -.
DR PeptideAtlas; Q9C093; -.
DR PRIDE; Q9C093; -.
DR ProteomicsDB; 79968; -. [Q9C093-1]
DR ProteomicsDB; 79969; -. [Q9C093-2]
DR ProteomicsDB; 79970; -. [Q9C093-3]
DR ProteomicsDB; 79971; -. [Q9C093-4]
DR Antibodypedia; 22874; 51 antibodies from 12 providers.
DR DNASU; 79925; -.
DR Ensembl; ENST00000282469.10; ENSP00000282469.6; ENSG00000152582.14. [Q9C093-3]
DR Ensembl; ENST00000356031.8; ENSP00000348314.3; ENSG00000152582.14. [Q9C093-1]
DR Ensembl; ENST00000440995.6; ENSP00000412125.2; ENSG00000152582.14. [Q9C093-2]
DR GeneID; 79925; -.
DR KEGG; hsa:79925; -.
DR MANE-Select; ENST00000356031.8; ENSP00000348314.3; NM_024867.4; NP_079143.3.
DR UCSC; uc003jjn.2; human. [Q9C093-1]
DR CTD; 79925; -.
DR DisGeNET; 79925; -.
DR GeneCards; SPEF2; -.
DR HGNC; HGNC:26293; SPEF2.
DR HPA; ENSG00000152582; Low tissue specificity.
DR MalaCards; SPEF2; -.
DR MIM; 610172; gene.
DR MIM; 618751; phenotype.
DR neXtProt; NX_Q9C093; -.
DR OpenTargets; ENSG00000152582; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA162404451; -.
DR VEuPathDB; HostDB:ENSG00000152582; -.
DR eggNOG; ENOG502QR7Y; Eukaryota.
DR GeneTree; ENSGT00390000008160; -.
DR HOGENOM; CLU_015066_0_0_1; -.
DR InParanoid; Q9C093; -.
DR OMA; LWDICDN; -.
DR OrthoDB; 81320at2759; -.
DR PhylomeDB; Q9C093; -.
DR TreeFam; TF329522; -.
DR PathwayCommons; Q9C093; -.
DR SignaLink; Q9C093; -.
DR BioGRID-ORCS; 79925; 18 hits in 1062 CRISPR screens.
DR ChiTaRS; SPEF2; human.
DR GeneWiki; SPEF2; -.
DR GenomeRNAi; 79925; -.
DR Pharos; Q9C093; Tdark.
DR PRO; PR:Q9C093; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9C093; protein.
DR Bgee; ENSG00000152582; Expressed in right uterine tube and 114 other tissues.
DR ExpressionAtlas; Q9C093; baseline and differential.
DR Genevisible; Q9C093; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0002177; C:manchette; ISS:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0048854; P:brain morphogenesis; ISS:UniProtKB.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; ISS:UniProtKB.
DR GO; GO:0060541; P:respiratory system development; ISS:UniProtKB.
DR GO; GO:0048705; P:skeletal system morphogenesis; ISS:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR Gene3D; 1.10.418.10; -; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR001715; CH-domain.
DR InterPro; IPR010441; CH_2.
DR InterPro; IPR036872; CH_dom_sf.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF06294; CH_2; 1.
DR SUPFAM; SSF47473; SSF47473; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50021; CH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Differentiation; Disease variant; Flagellum; Golgi apparatus;
KW Reference proteome; Spermatogenesis.
FT CHAIN 1..1822
FT /note="Sperm flagellar protein 2"
FT /id="PRO_0000299029"
FT DOMAIN 1..105
FT /note="Calponin-homology (CH)"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00044"
FT REGION 896..1004
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1278..1327
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1324..1676
FT /note="Interaction with IFT20"
FT /evidence="ECO:0000269|PubMed:19889948"
FT REGION 1664..1718
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1803..1822
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 227..260
FT /evidence="ECO:0000255"
FT COILED 321..396
FT /evidence="ECO:0000255"
FT COILED 732..758
FT /evidence="ECO:0000255"
FT COILED 871..909
FT /evidence="ECO:0000255"
FT COILED 1686..1712
FT /evidence="ECO:0000255"
FT COMPBIAS 953..972
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1278..1319
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1684..1715
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1805..1822
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..1483
FT /note="MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLD
FT SRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSG
FT LTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDL
FT AHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKAL
FT EAQKMMKKKKEAEDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDE
FT YIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYREEQLINRLMRQSQQERR
FT IAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKE
FT KRFHDQIAVERAQARYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKEL
FT FFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMVGEWALPEEMVDNL
FT PPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDF
FT PIQILSIDTLVQEAIQAFHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAG
FT PVSDEVLPETEGETMLSANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSIP
FT DVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKST
FT LAIDPATSKEIPLPSPAFDFVILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAE
FT NQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKEIL
FT TTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKT
FT PTAKGKPQSEAPHGKQESLQEGKGKKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTS
FT PVAIVPQPPKPGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLREDQHT
FT VLAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEETKAELHQRVNDLRD
FT RLWDICDARKEEAEQERLDIINESWLQDTLGMTMNHFFSLMQAELNRFQDTKRLLQDYY
FT WGMESKIPVEDNKRFTRIPLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVLK
FT GKMDNSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRLMEEEKENQPADPKEK
FT SPQMGANKKVKKEPPKKKQEDKKPKGKSPPMAEATPVIVTTEEIAEIKRKNELRVKIKE
FT EHLAALQFEEIATQFRLELIKTKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEK
FT LTDVARYHIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPVEKEEDGTLTIEQ
FT LDSLRDQFLDMAPKG -> MPSQIGDRKWLHGLQAALQNFLKGYPAIVRQLHSAGRGKS
FT DTSQKKPKELLESLLQADIVKFAHFLLDVMNVLSILSCVNKNRNSSIADIFATLESMLE
FT MLQMYQTRLGPKERMVDSATHFHGNCLRGKENISAVRNIVLTHLIKRLQGCFRDASQNV
FT VRATVIGSFKLWPTKINQEFGEKEVSILTAHYEPVLEAANVKLSEVDTEWSMLKLEIYA
FT RFQNIRKLTWDFVNSIYLHKYPNILTLVDLVLTLPASSAEAEHGFSQMKWTKSHMHAKI
FT KAES (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027521"
FT VAR_SEQ 509..514
FT /note="NMVGEW -> VPTDMK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_027522"
FT VAR_SEQ 515..1822
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_027523"
FT VAR_SEQ 655..659
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11214970"
FT /id="VSP_027524"
FT VAR_SEQ 1794..1822
FT /note="DIKIILQRSEHVQGSDGERSPSRHTEEKK -> VHIIYVVEMIVCAKGWAPL
FT PSGKQCARWRN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11214970"
FT /id="VSP_027525"
FT VARIANT 71
FT /note="N -> H (in dbSNP:rs6897513)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034766"
FT VARIANT 74
FT /note="G -> S (in dbSNP:rs34307272)"
FT /id="VAR_034767"
FT VARIANT 304..1822
FT /note="Missing (in SPGF43; loss of protein expression;
FT changed sperm axoneme assembly)"
FT /evidence="ECO:0000269|PubMed:31048344"
FT /id="VAR_083842"
FT VARIANT 366
FT /note="R -> K (in dbSNP:rs16902381)"
FT /id="VAR_034768"
FT VARIANT 447
FT /note="R -> Q (in dbSNP:rs34852821)"
FT /id="VAR_034769"
FT VARIANT 500
FT /note="D -> N (in dbSNP:rs34708521)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034770"
FT VARIANT 616
FT /note="N -> K (in dbSNP:rs7710284)"
FT /id="VAR_034771"
FT VARIANT 655
FT /note="E -> G (in dbSNP:rs12332369)"
FT /id="VAR_034772"
FT VARIANT 904
FT /note="A -> V (in dbSNP:rs13170082)"
FT /evidence="ECO:0000269|PubMed:11214970"
FT /id="VAR_051376"
FT VARIANT 934
FT /note="A -> P (in dbSNP:rs13170390)"
FT /evidence="ECO:0000269|PubMed:11214970"
FT /id="VAR_051377"
FT VARIANT 1368..1822
FT /note="Missing (in SPGF43; loss of protein expression;
FT changed sperm axoneme assembly)"
FT /evidence="ECO:0000269|PubMed:31151990"
FT /id="VAR_083843"
FT VARIANT 1482
FT /note="K -> N (in dbSNP:rs2277044)"
FT /id="VAR_034773"
FT CONFLICT 1698
FT /note="D -> G (in Ref. 1; BAB15563)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1822 AA; 209811 MW; 88D4FC856DBC3FE4 CRC64;
MSEILCQWLN KELKVSRTVS PKSFAKAFSS GYLLGEVLHK FELQDDFSEF LDSRVSSAKL
NNFSRLEPTL NLLGVQFDQN VAHGIITEKP GVATKLLYQL YIALQKKKKS GLTGVEMQTM
QRLTNLRLQN MKSDTFQERL RHMIPRQTDF NLMRITYRFQ EKYKHVKEDL AHLHFEKLER
FQKLKEEQRC FDIEKQYLNR RRQNEIMAKI QAAIIQIPKP ASNRTLKALE AQKMMKKKKE
AEDVADEIKK FEALIKKDLQ AKESASKTSL DTAGQTTTDL LNTYSDDEYI KKIQKRLEED
AFAREQREKR RRKLLMDQLI AHEAQEEAYR EEQLINRLMR QSQQERRIAV QLMHVRHEKE
VLWQNRIFRE KQHEERRLKD FQDALDREAA LAKQAKIDFE EQFLKEKRFH DQIAVERAQA
RYEKHYSVCA EILDQIVDLS TKVADYRMLT NNLIPYKLMH DWKELFFNAK PIYEQASVKT
LPANPSREQL TELEKRDLLD TNDYEEYKNM VGEWALPEEM VDNLPPSNNC ILGHILHRLA
EKSLPPRAES TTPELPSFAV KGCLLGKTLS GKTTILRSLQ KDFPIQILSI DTLVQEAIQA
FHDNEKVSEV LPIQKNDEED ALPVLQEEIK ESQDPQHVFS AGPVSDEVLP ETEGETMLSA
NADKTPKAEE VKSSDSFLKL TTRAQLGAKS EQLLKKGKSI PDVLLVDIIV NAINEIPVNQ
DCILDGFPMT LNQAQLLEEA LTGCNRNLTE VERKKAQKST LAIDPATSKE IPLPSPAFDF
VILLDVSDTS SMSRMNDIIA EELSYKTAHE DISQRVAAEN QDKDGDQNLR DQIQHRIIGF
LDNWPLLEQW FSEPENILIK INAEIDKESL CEKVKEILTT EIAKKKNKVE KKLEEKEAEK
KAAASLAELP LPTPPPAPPP EPEKEKEIHQ SHVASKTPTA KGKPQSEAPH GKQESLQEGK
GKKGETALKR KGSPKGKSSG GKVPVKKSPA DSTDTSPVAI VPQPPKPGSE EWVYVNEPVP
EEMPLFLVPY WELIENSYIN TIKTVLRHLR EDQHTVLAYL YEIRTSFQEF LKRPDHKQDF
VAQWQADFNS LPDDLWDDEE TKAELHQRVN DLRDRLWDIC DARKEEAEQE RLDIINESWL
QDTLGMTMNH FFSLMQAELN RFQDTKRLLQ DYYWGMESKI PVEDNKRFTR IPLVQLDSKD
NSESQLRIPL VPRISISLET VTPKPKTKSV LKGKMDNSLE NVESNFEADE KLVMDTWQQA
SLAVSHMVAA EIHQRLMEEE KENQPADPKE KSPQMGANKK VKKEPPKKKQ EDKKPKGKSP
PMAEATPVIV TTEEIAEIKR KNELRVKIKE EHLAALQFEE IATQFRLELI KTKALALLED
LVTKVVDVYK LMEKWLGERY LNEMASTEKL TDVARYHIET STKIQNELYL SQEDFFINGN
IKVFPDPPPS IRPPPVEKEE DGTLTIEQLD SLRDQFLDMA PKGIIGNKAF TDILIDLVTL
NLGTNNFPSN WMHLTQPELQ ELTSLLTVNS EFVDWRKFLL VTSMPWPIPL EEELLETLQK
FKAVDKEQLG TITFEQYMQA GLWFTGDEDI KIPENPLEPL PFNRQEHLIE FFFRLFADYE
KDPPQLDYTQ MLLYFACHPD TVEGVYRALS VAVGTHVFQQ VKASIPSAEK TSSTDAGPAE
EFPEPEENAA REERKLKDDT EKREQKDEEI PENANNEKMS METLLKVFKG GSEAQDSNRF
ASHLKIENIY AEGFIKTFQD LGAKNLEPIE VAVLLKHPFI QDLISNYSDY KFPDIKIILQ
RSEHVQGSDG ERSPSRHTEE KK
