SPEF2_PIG
ID SPEF2_PIG Reviewed; 1812 AA.
AC Q2IA00; Q288C5;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-MAR-2006, sequence version 1.
DT 25-MAY-2022, entry version 70.
DE RecName: Full=Sperm flagellar protein 2;
DE AltName: Full=Protein KPL2;
GN Name=SPEF2; Synonyms=KPL2;
OS Sus scrofa (Pig).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus.
OX NCBI_TaxID=9823;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DISEASE, AND TISSUE SPECIFICITY.
RX PubMed=16549801; DOI=10.1073/pnas.0506318103;
RA Sironen A., Thomsen B., Andersson M., Ahola V., Vilkki J.;
RT "An intronic insertion in KPL2 results in aberrant splicing and causes the
RT immotile short-tail sperm defect in the pig.";
RL Proc. Natl. Acad. Sci. U.S.A. 103:5006-5011(2006).
RN [2]
RP DISEASE.
RX PubMed=17610085; DOI=10.1007/s00438-007-0256-7;
RA Sironen A., Vilkki J., Bendixen C., Thomsen B.;
RT "Infertile Finnish Yorkshire boars carry a full-length LINE-1
RT retrotransposon within the KPL2 gene.";
RL Mol. Genet. Genomics 278:385-391(2007).
RN [3]
RP FUNCTION, AND DISEASE.
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).
CC -!- FUNCTION: Required for correct axoneme development in spermatozoa
CC (PubMed:16549801, PubMed:19889948). Important for normal development of
CC the manchette and sperm head morphology. Essential for male fertility.
CC Plays a role in localization of the intraflagellar transport protein
CC IFT20 to the manchette, suggesting function as an adapter for dynein-
CC mediated protein transport during spermatogenesis. Also plays a role in
CC bone growth where it seems to be required for normal osteoblast
CC differentiation (By similarity). {ECO:0000250|UniProtKB:Q8C9J3,
CC ECO:0000269|PubMed:16549801, ECO:0000269|PubMed:19889948}.
CC -!- SUBUNIT: Interacts (via C-terminus) with IFT20. Interacts with DYNC1I2.
CC {ECO:0000250|UniProtKB:Q8C9J3}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q9C093}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q8C9J3}. Golgi apparatus
CC {ECO:0000250|UniProtKB:Q8C9J3}. Note=Shows dynamic localization in
CC developing spermatozoa. Localizes to the manchette in step 10-12
CC elongating spermatids. Detected in the basal body and neck area of step
CC 13-14 spermatids. Localizes to the midpiece of the sperm tail in step
CC 15-16 spermatids. During the epididymal transport of spermatozoa,
CC expression in the sperm tail reduces and becomes concentrated at the
CC distal part of the midpiece. Detected in the Golgi apparatus of late
CC spermatocytes and round spermatids. Detected in the cytoplasm of
CC Sertoli cells. {ECO:0000250|UniProtKB:Q8C9J3}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in ciliated tissues. Mainly
CC expressed in testis, followed by trachea. Also expressed at lower level
CC in lung, kidney and liver. {ECO:0000269|PubMed:16549801}.
CC -!- DISEASE: Note=Defects in SPEF2 are a cause of immotile short-tail sperm
CC defects, an autosomal recessive disease only found in the Finnish
CC Yorkshire pig population (PubMed:16549801, PubMed:17610085,
CC PubMed:19889948). It specifically affects the axoneme structure of
CC sperm flagella, whereas cilia in other tissues appear unaffected
CC (PubMed:16549801, PubMed:17610085, PubMed:19889948). Sperm flagella are
CC short and malformed, with disorganized mitochondria and loss or
CC disorganization of the outer fibrous sheath (PubMed:19889948).
CC {ECO:0000269|PubMed:16549801, ECO:0000269|PubMed:17610085,
CC ECO:0000269|PubMed:19889948}.
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DR EMBL; DQ092447; AAZ43198.1; -; Genomic_DNA.
DR EMBL; DQ119847; AAZ23126.1; -; mRNA.
DR RefSeq; NP_001038026.1; NM_001044561.1.
DR AlphaFoldDB; Q2IA00; -.
DR SMR; Q2IA00; -.
DR STRING; 9823.ENSSSCP00000017830; -.
DR PaxDb; Q2IA00; -.
DR PRIDE; Q2IA00; -.
DR GeneID; 733620; -.
DR KEGG; ssc:733620; -.
DR CTD; 79925; -.
DR eggNOG; ENOG502QR7Y; Eukaryota.
DR InParanoid; Q2IA00; -.
DR OrthoDB; 81320at2759; -.
DR ChiTaRS; SPEF2; pig.
DR Proteomes; UP000008227; Unplaced.
DR Proteomes; UP000314985; Unplaced.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0002177; C:manchette; IBA:GO_Central.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; IBA:GO_Central.
DR GO; GO:0007288; P:sperm axoneme assembly; 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 2: Evidence at transcript level;
KW Cell projection; Cilium; Coiled coil; Cytoplasm; Differentiation;
KW Flagellum; Golgi apparatus; Reference proteome; Spermatogenesis.
FT CHAIN 1..1812
FT /note="Sperm flagellar protein 2"
FT /id="PRO_0000299031"
FT DOMAIN 1..105
FT /note="Calponin-homology (CH)"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00044"
FT REGION 618..658
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 879..1002
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1272..1322
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1317..1669
FT /note="Interaction with IFT20"
FT /evidence="ECO:0000250|UniProtKB:Q9C093"
FT REGION 1793..1812
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 178..260
FT /evidence="ECO:0000255"
FT COILED 374..403
FT /evidence="ECO:0000255"
FT COILED 724..750
FT /evidence="ECO:0000255"
FT COILED 803..827
FT /evidence="ECO:0000255"
FT COILED 868..897
FT /evidence="ECO:0000255"
FT COMPBIAS 627..641
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 643..658
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 879..899
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 913..933
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 946..965
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1272..1294
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1812 AA; 208804 MW; 8E89C07E4A1444E2 CRC64;
MSEILCHWLN QELKVSQTVS PKSFAKAFSS GYLIGEVLHK YELQDDFAEF SEKRISSAKL
NNFSRLEPTL HLLGVQFDQN VAHDIITEKP GVAMKLLYQL YIALQRKKKS GLTGVELQTM
QPLTNTKLQN MKSEAFRDRL RNLIPRQTDV SLMRVSHRFQ EKYKYKDEDL VHTHLKKLEN
FQKLQEEQRS FNIEKQRLSR RRQNEIMAQI QAAIIQIPKP ASNRTLKALD AQKMMKKKKE
AEDVANEIKK FEALIKKDLQ AKESASKTSL DAAGQTTTDL LNTYSDDEYI KKIQKRLEED
AFAREQREKR RRRLLMDQLI AHEAQEEAYR EEQLVSRLMR QSQQERRIAV QLMHVRHEKE
VLWQNRIFRE KQYEERRLKD FQDALDREAA LAKQAKIDYE EQALREKEMH EQIAAERVQA
RYKKHYSICA EILDQILDLS TKVADYRMLT NNLIPYKLMH DWKELFFNGM PIYEQASLKH
LSAKPSTEQL IELEKRDLLD NNDYEEYKNM VGEWALPEEM VDNIPPSDNR ILGHVIHRLI
EHSLPPQVES TAPELPSFAI KGCLLGKTFS GKTTALKFLQ KYFPIEVLSI DTLVQEAIQA
FHNNEKVSGA LQLQKAAEEK ASPVRQESGD RSQNLHNVLS AEGTPETEDE TRLSTKKTPK
AEEVIASASL SELTTRAQLG AKSEKLLKKG KSISDTLLVS IVVNAINQIP IYKGWILDGF
PMTLNQAKLL EEALTGFNRN LIELEGKKSQ ISTLAVDPTA SREVPLPPSA FDFVMLLDIS
DNTSLNRMND IMAEAFLSET PHENINQRVA AENQDMDEDQ NLRDQIQHRI IGFWDHWPSL
EQWFTEPENI LIKMNAEVDE QSLCQKVKEM FMAEIMKKEN KAKKKSEEKE AEKKEEFSLP
EATPPTPPAP PPSEPEKEKE AHPPHERSKT PTAKGKPASE PPHGNRESPQ EGKGKKSETS
PKRKGSPRGK SPGGKAPVKK SPADSTDVSP VPAVPPPSKP GSEEWVFVNE PIPEEIPLFL
VPYWKLIENS YINSIKTVLR HLREGQHTVL AYLYDTRTGF QQFLRRPDHK QNFVSQWQAD
FNSLPDDLWE DEETKAELHQ RVNDLRDRLW DICDARKEEA EQERLDIINE SWLQDSTGIA
MNHFFSLMQA ELNRFQDTKR LLQDYYRGME CKIPTDDTKR FTRIPLVQLD NKDTLEFQLR
IPLVPRRSIS PESALSKPKI KALLKGNIDY SLENVELNFE ADEKVVMDTW QQASLAVSHM
VAAEIHQRLM EEEKENQPAD TKEKPPQAAA NKKVKKEPPK KKREDKKGKG KSPPMAESAP
VITVEEIAEM ERKNELRLRI KEEHLAALQF EERATQFRLE LIKTKALAFL EDLVTKAVDV
YKLMEKWLGE RYLNEMASVE KLTEVARYHI ETSTKIQNEL YLDQEDFFIN GNIKVFPDPP
PPVRPPPVEK EENGTLTIEQ LDNLRDQFLD IAPKGVIGNK AFADILLDLV TLNLGTNNFP
SSWMHLTQPE LQELASLLVI NSELVDWRKF LLVAALPWPI PLEEELLETL QRFKAVDEEQ
LGTVTFEQYL QAGLWFTGDK DIKIPANPLE PLPFNRQEHL IEFFFRLFAD HDKDPPRLDY
TEMLLYFACH PDGMEGVYRA LSVATGSHVF QPIETPVLVA EKTSSFIDMS PTEEYPEPED
NFISEERELQ EEGEEKEEDI PENANTEMIS METLLKVFRG GNEPQDTNRF ASYPKTESIY
SENFIKVFQD LGSKNLEPIE VAVLLKHPFI QDLIRSYPDY KIPDIKVVLQ RSEHIQGSDG
ESSPSRLTEE KK
