SPG16_HUMAN
ID SPG16_HUMAN Reviewed; 631 AA.
AC Q8N0X2; Q498B7; Q658W1; Q68DB3; Q6I9Z6; Q8N9C7; Q9H601;
DT 26-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=Sperm-associated antigen 16 protein;
DE AltName: Full=Pf20 protein homolog;
GN Name=SPAG16; Synonyms=PF20;
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] (ISOFORMS 1 AND 4), ALTERNATIVE SPLICING,
RP VARIANTS HIS-361 AND THR-425, AND TISSUE SPECIFICITY.
RC TISSUE=Small intestine, and Testis;
RX PubMed=11867345; DOI=10.1165/ajrcmb.26.3.4738;
RA Pennarun G., Bridoux A.-M., Escudier E., Dastot-Le Moal F., Cacheux V.,
RA Amselem S., Duriez B.;
RT "Isolation and expression of the human hPF20 gene orthologous to
RT Chlamydomonas PF20: evaluation as a candidate for axonemal defects of
RT respiratory cilia and sperm flagella.";
RL Am. J. Respir. Cell Mol. Biol. 26:362-370(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-425, AND TISSUE
RP SPECIFICITY.
RX PubMed=12391165; DOI=10.1128/mcb.22.22.7993-8004.2002;
RA Zhang Z., Sapiro R., Kapfhamer D., Bucan M., Bray J., Chennathukuzhi V.,
RA McNamara P., Curtis A., Zhang M., Blanchette-Mackie E.J., Strauss J.F. III;
RT "A sperm-associated WD repeat protein orthologous to Chlamydomonas PF20
RT associates with Spag6, the mammalian orthologue of Chlamydomonas PF16.";
RL Mol. Cell. Biol. 22:7993-8004(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Hippocampus, and Small intestine;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
RC TISSUE=Stomach, and Testis;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Brain, and Pancreas;
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: Necessary for sperm flagellar function. Plays a role in
CC motile ciliogenesis. May help to recruit STK36 to the cilium or apical
CC surface of the cell to initiate subsequent steps of construction of the
CC central pair apparatus of motile cilia (By similarity).
CC {ECO:0000250|UniProtKB:Q8K450}.
CC -!- SUBUNIT: Interacts with SPAG6 and STK36.
CC {ECO:0000250|UniProtKB:Q8K450}.
CC -!- INTERACTION:
CC Q8N0X2-4; Q9Y2T2: AP3M1; NbExp=3; IntAct=EBI-11946259, EBI-2371151;
CC Q8N0X2-4; O14901: KLF11; NbExp=3; IntAct=EBI-11946259, EBI-948266;
CC Q8N0X2-4; Q9BYD6: MRPL1; NbExp=3; IntAct=EBI-11946259, EBI-5325394;
CC Q8N0X2-4; Q14119: VEZF1; NbExp=3; IntAct=EBI-11946259, EBI-11980193;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8K450}.
CC Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000250|UniProtKB:Q8K450}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q8K450}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q8K450}. Note=Detected on the sperm flagellum
CC axoneme. Detected in the central apparatus of the axoneme. Colocalizes
CC with SPAG6 on microtubules (By similarity).
CC {ECO:0000250|UniProtKB:Q8K450}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=PF20 variant 1a;
CC IsoId=Q8N0X2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N0X2-2; Sequence=VSP_013494, VSP_013495, VSP_013502;
CC Name=3;
CC IsoId=Q8N0X2-3; Sequence=VSP_013493, VSP_013498, VSP_013499;
CC Name=4; Synonyms=PF20 variant 2a;
CC IsoId=Q8N0X2-4; Sequence=VSP_013496, VSP_013497;
CC Name=5;
CC IsoId=Q8N0X2-5; Sequence=VSP_013500, VSP_013501;
CC -!- TISSUE SPECIFICITY: Isoform 1 is detected in testis. Isoform 4 is
CC detected in testis and brain, and at lower levels in kidney, heart,
CC pancreas, thyroid, ovary, adrenal gland, spinal cord, trachea and
CC liver. {ECO:0000269|PubMed:11867345, ECO:0000269|PubMed:12391165}.
CC -!- PTM: Phosphorylated by TSSK2. {ECO:0000250}.
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DR EMBL; AF310672; AAM63956.1; -; mRNA.
DR EMBL; AF426740; AAN63530.1; -; mRNA.
DR EMBL; AF490390; AAM97147.1; -; mRNA.
DR EMBL; AK026377; BAB15466.1; -; mRNA.
DR EMBL; AK095036; BAC04481.1; -; mRNA.
DR EMBL; CR457359; CAG33640.1; -; mRNA.
DR EMBL; CR749477; CAH18307.1; -; mRNA.
DR EMBL; AL832962; CAH56274.1; -; mRNA.
DR EMBL; BC009614; AAH09614.1; -; mRNA.
DR EMBL; BC067756; AAH67756.1; -; mRNA.
DR EMBL; BC100282; AAI00283.1; -; mRNA.
DR CCDS; CCDS2396.1; -. [Q8N0X2-1]
DR CCDS; CCDS46508.1; -. [Q8N0X2-4]
DR RefSeq; NP_001020607.1; NM_001025436.2. [Q8N0X2-4]
DR RefSeq; NP_078808.3; NM_024532.4. [Q8N0X2-1]
DR AlphaFoldDB; Q8N0X2; -.
DR SMR; Q8N0X2; -.
DR BioGRID; 122726; 7.
DR IntAct; Q8N0X2; 8.
DR STRING; 9606.ENSP00000332592; -.
DR iPTMnet; Q8N0X2; -.
DR PhosphoSitePlus; Q8N0X2; -.
DR BioMuta; SPAG16; -.
DR DMDM; 146329993; -.
DR MassIVE; Q8N0X2; -.
DR PaxDb; Q8N0X2; -.
DR PeptideAtlas; Q8N0X2; -.
DR PRIDE; Q8N0X2; -.
DR ProteomicsDB; 71478; -. [Q8N0X2-1]
DR ProteomicsDB; 71479; -. [Q8N0X2-2]
DR ProteomicsDB; 71480; -. [Q8N0X2-3]
DR ProteomicsDB; 71481; -. [Q8N0X2-4]
DR ProteomicsDB; 71482; -. [Q8N0X2-5]
DR Antibodypedia; 47659; 218 antibodies from 29 providers.
DR DNASU; 79582; -.
DR Ensembl; ENST00000331683.10; ENSP00000332592.5; ENSG00000144451.20. [Q8N0X2-1]
DR Ensembl; ENST00000432529.6; ENSP00000415079.2; ENSG00000144451.20. [Q8N0X2-4]
DR GeneID; 79582; -.
DR KEGG; hsa:79582; -.
DR MANE-Select; ENST00000331683.10; ENSP00000332592.5; NM_024532.5; NP_078808.3.
DR UCSC; uc002veo.5; human. [Q8N0X2-1]
DR CTD; 79582; -.
DR DisGeNET; 79582; -.
DR GeneCards; SPAG16; -.
DR HGNC; HGNC:23225; SPAG16.
DR HPA; ENSG00000144451; Low tissue specificity.
DR MIM; 612173; gene.
DR neXtProt; NX_Q8N0X2; -.
DR OpenTargets; ENSG00000144451; -.
DR PharmGKB; PA134887898; -.
DR VEuPathDB; HostDB:ENSG00000144451; -.
DR eggNOG; KOG0295; Eukaryota.
DR GeneTree; ENSGT00940000155053; -.
DR HOGENOM; CLU_000288_57_18_1; -.
DR InParanoid; Q8N0X2; -.
DR OMA; VSDDETW; -.
DR PhylomeDB; Q8N0X2; -.
DR TreeFam; TF351566; -.
DR PathwayCommons; Q8N0X2; -.
DR SignaLink; Q8N0X2; -.
DR BioGRID-ORCS; 79582; 6 hits in 1077 CRISPR screens.
DR ChiTaRS; SPAG16; human.
DR GenomeRNAi; 79582; -.
DR Pharos; Q8N0X2; Tbio.
DR PRO; PR:Q8N0X2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N0X2; protein.
DR Bgee; ENSG00000144451; Expressed in bronchial epithelial cell and 205 other tissues.
DR ExpressionAtlas; Q8N0X2; baseline and differential.
DR Genevisible; Q8N0X2; HS.
DR GO; GO:1990716; C:axonemal central apparatus; IBA:GO_Central.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0036126; C:sperm flagellum; IEA:Ensembl.
DR GO; GO:0035082; P:axoneme assembly; IMP:GO_Central.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0120197; P:mucociliary clearance; IEA:Ensembl.
DR GO; GO:0007288; P:sperm axoneme assembly; IEA:Ensembl.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 5.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 3.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Flagellum; Phosphoprotein; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..631
FT /note="Sperm-associated antigen 16 protein"
FT /id="PRO_0000051223"
FT REPEAT 350..389
FT /note="WD 1"
FT REPEAT 392..431
FT /note="WD 2"
FT REPEAT 434..473
FT /note="WD 3"
FT REPEAT 476..515
FT /note="WD 4"
FT REPEAT 518..557
FT /note="WD 5"
FT REPEAT 560..600
FT /note="WD 6"
FT REPEAT 601..630
FT /note="WD 7"
FT REGION 266..332
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 152..267
FT /evidence="ECO:0000255"
FT COMPBIAS 273..315
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 318..332
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..149
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_013494"
FT VAR_SEQ 1..61
FT /note="MAAQRGMPSSAVRVLEEALGMGLTAAGDARDTADAVAAEGAYYLEQVTITEA
FT SEDDYEYEE -> MGVGTKARASHWRRLLSLGATPEEPLLDFK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013493"
FT VAR_SEQ 150..179
FT /note="VPDVYTQIMLLENENKNLKKDLKHYKQAAD -> MTILASQKVKKIWQKQFR
FT WPKNRLQILKFC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_013495"
FT VAR_SEQ 179..183
FT /note="DKARE -> EYVIF (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11867345,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334,
FT ECO:0000303|Ref.4"
FT /id="VSP_013496"
FT VAR_SEQ 184..631
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11867345,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334,
FT ECO:0000303|Ref.4"
FT /id="VSP_013497"
FT VAR_SEQ 278..282
FT /note="VDHSR -> GKGCM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013498"
FT VAR_SEQ 283..631
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013499"
FT VAR_SEQ 315..347
FT /note="DSEFPIDMQPNPNLNVSKESLSPAKFDYKLKNI -> QWTGNSQTWNKTVPL
FT QDTIGRRQENNSAHQHID (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_013500"
FT VAR_SEQ 348..631
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_013501"
FT VAR_SEQ 574..631
FT /note="GRVLAQASGNGVIHLLDLKSGEIHKLMGHENEAHTVVFSHDGEILFSGGSDG
FT TVRTWS -> ENTTYLYRPGAQIYYFQLS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_013502"
FT VARIANT 324
FT /note="P -> T (in dbSNP:rs10167688)"
FT /id="VAR_053418"
FT VARIANT 361
FT /note="Q -> H (in dbSNP:rs2042791)"
FT /evidence="ECO:0000269|PubMed:11867345"
FT /id="VAR_022366"
FT VARIANT 425
FT /note="K -> T (in dbSNP:rs12623569)"
FT /evidence="ECO:0000269|PubMed:11867345,
FT ECO:0000269|PubMed:12391165"
FT /id="VAR_022367"
FT CONFLICT 49
FT /note="I -> T (in Ref. 4; CAG33640)"
FT /evidence="ECO:0000305"
FT CONFLICT 100
FT /note="P -> L (in Ref. 4; CAG33640)"
FT /evidence="ECO:0000305"
FT CONFLICT 173
FT /note="H -> Q (in Ref. 4; CAG33640)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 631 AA; 70818 MW; 9722B49AC8FFA31C CRC64;
MAAQRGMPSS AVRVLEEALG MGLTAAGDAR DTADAVAAEG AYYLEQVTIT EASEDDYEYE
EIPDDNFSIP EGEEDLAKAI QMAQEQATDT EILERKTVLP SKHAVPEVIE DFLCNFLIKM
GMTRTLDCFQ SEWYELIQKG VTELRTVGNV PDVYTQIMLL ENENKNLKKD LKHYKQAADK
AREDLLKIQK ERDFHRMHHK RIVQEKNKLI NDLKGLKLHY ASYEPTIRVL HEKHHTLLKE
KMLTSLERDK VVGQISGLQE TLKKLQRGHS YHGPQIKVDH SREKENAPEG PTQKGLREAR
EQNKCKTKMK GNTKDSEFPI DMQPNPNLNV SKESLSPAKF DYKLKNIFRL HELPVSCVSM
QPHKDILVSC GEDRLWKVLG LPKCNVLLTG FGHTDWLSDC CFHPSGDKLA TSSGDTTVKL
WDLCKGDCIL TFEGHSRAVW SCTWHSCGNF VASSSLDKTS KIWDVNSERC RCTLYGHTDS
VNSIEFFPFS NTLLTSSADK TLSIWDARTG ICEQSLYGHM HSINDAIFDP RGHMIASCDA
CGVTKLWDFR KLLPIVSIDI GPSPGNEVNF DSSGRVLAQA SGNGVIHLLD LKSGEIHKLM
GHENEAHTVV FSHDGEILFS GGSDGTVRTW S
