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Sperm-associated antigen 16 protein (Pf20 protein homolog)

 SPG16_HUMAN             Reviewed;         631 AA.
Q8N0X2; Q498B7; Q658W1; Q68DB3; Q6I9Z6; Q8N9C7; Q9H601;
26-APR-2005, integrated into UniProtKB/Swiss-Prot.
06-MAR-2007, sequence version 2.
27-SEP-2017, entry version 139.
RecName: Full=Sperm-associated antigen 16 protein;
AltName: Full=Pf20 protein homolog;
Name=SPAG16; Synonyms=PF20;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), ALTERNATIVE SPLICING,
VARIANTS HIS-361 AND THR-425, AND TISSUE SPECIFICITY.
TISSUE=Small intestine, and Testis;
PubMed=11867345; DOI=10.1165/ajrcmb.26.3.4738;
Pennarun G., Bridoux A.-M., Escudier E., Dastot-Le Moal F.,
Cacheux V., Amselem S., Duriez B.;
"Isolation and expression of the human hPF20 gene orthologous to
Chlamydomonas PF20: evaluation as a candidate for axonemal defects of
respiratory cilia and sperm flagella.";
Am. J. Respir. Cell Mol. Biol. 26:362-370(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-425, AND TISSUE
SPECIFICITY.
PubMed=12391165; DOI=10.1128/MCB.22.22.7993-8004.2002;
Zhang Z., Sapiro R., Kapfhamer D., Bucan M., Bray J.,
Chennathukuzhi V., McNamara P., Curtis A., Zhang M.,
Blanchette-Mackie E.J., Strauss J.F. III;
"A sperm-associated WD repeat protein orthologous to Chlamydomonas
PF20 associates with Spag6, the mammalian orthologue of Chlamydomonas
PF16.";
Mol. Cell. Biol. 22:7993-8004(2002).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
TISSUE=Hippocampus, and Small intestine;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
TISSUE=Stomach, and Testis;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
TISSUE=Brain, and Pancreas;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- FUNCTION: Necessary for sperm flagellar function. Plays a role in
motile ciliogenesis. May help to recruit STK36 to the cilium or
apical surface of the cell to initiate subsequent steps of
construction of the central pair apparatus of motile cilia (By
similarity). {ECO:0000250}.
-!- SUBUNIT: Interacts with SPAG6 and STK36. {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm,
cytoskeleton, flagellum axoneme {ECO:0000250}. Cytoplasm,
cytoskeleton, cilium axoneme {ECO:0000250}. Note=Detected on the
sperm flagellum axoneme. Detected in the central apparatus of the
axoneme. Colocalizes with SPAG6 on microtubules (By similarity).
{ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1; Synonyms=PF20 variant 1a;
IsoId=Q8N0X2-1; Sequence=Displayed;
Name=2;
IsoId=Q8N0X2-2; Sequence=VSP_013494, VSP_013495, VSP_013502;
Note=No experimental confirmation available.;
Name=3;
IsoId=Q8N0X2-3; Sequence=VSP_013493, VSP_013498, VSP_013499;
Note=No experimental confirmation available.;
Name=4; Synonyms=PF20 variant 2a;
IsoId=Q8N0X2-4; Sequence=VSP_013496, VSP_013497;
Name=5;
IsoId=Q8N0X2-5; Sequence=VSP_013500, VSP_013501;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Isoform 1 is detected in testis. Isoform 4 is
detected in testis and brain, and at lower levels in kidney,
heart, pancreas, thyroid, ovary, adrenal gland, spinal cord,
trachea and liver. {ECO:0000269|PubMed:11867345,
ECO:0000269|PubMed:12391165}.
-!- PTM: Phosphorylated by TSSK2. {ECO:0000250}.
-----------------------------------------------------------------------
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EMBL; AF310672; AAM63956.1; -; mRNA.
EMBL; AF426740; AAN63530.1; -; mRNA.
EMBL; AF490390; AAM97147.1; -; mRNA.
EMBL; AK026377; BAB15466.1; -; mRNA.
EMBL; AK095036; BAC04481.1; -; mRNA.
EMBL; CR457359; CAG33640.1; -; mRNA.
EMBL; CR749477; CAH18307.1; -; mRNA.
EMBL; AL832962; CAH56274.1; -; mRNA.
EMBL; BC009614; AAH09614.1; -; mRNA.
EMBL; BC067756; AAH67756.1; -; mRNA.
EMBL; BC100282; AAI00283.1; -; mRNA.
CCDS; CCDS2396.1; -. [Q8N0X2-1]
CCDS; CCDS46508.1; -. [Q8N0X2-4]
RefSeq; NP_001020607.1; NM_001025436.2. [Q8N0X2-4]
RefSeq; NP_078808.3; NM_024532.4. [Q8N0X2-1]
UniGene; Hs.743365; -.
ProteinModelPortal; Q8N0X2; -.
SMR; Q8N0X2; -.
BioGrid; 122726; 1.
IntAct; Q8N0X2; 4.
STRING; 9606.ENSP00000332592; -.
iPTMnet; Q8N0X2; -.
PhosphoSitePlus; Q8N0X2; -.
BioMuta; SPAG16; -.
DMDM; 146329993; -.
PaxDb; Q8N0X2; -.
PeptideAtlas; Q8N0X2; -.
PRIDE; Q8N0X2; -.
Ensembl; ENST00000331683; ENSP00000332592; ENSG00000144451. [Q8N0X2-1]
Ensembl; ENST00000432529; ENSP00000415079; ENSG00000144451. [Q8N0X2-4]
GeneID; 79582; -.
KEGG; hsa:79582; -.
UCSC; uc002veo.5; human. [Q8N0X2-1]
CTD; 79582; -.
DisGeNET; 79582; -.
EuPathDB; HostDB:ENSG00000144451.18; -.
GeneCards; SPAG16; -.
H-InvDB; HIX0021055; -.
HGNC; HGNC:23225; SPAG16.
HPA; HPA037542; -.
MIM; 612173; gene.
neXtProt; NX_Q8N0X2; -.
OpenTargets; ENSG00000144451; -.
PharmGKB; PA134887898; -.
eggNOG; ENOG410INWU; Eukaryota.
eggNOG; ENOG410XRA2; LUCA.
GeneTree; ENSGT00890000139421; -.
HOVERGEN; HBG086482; -.
InParanoid; Q8N0X2; -.
OMA; ERDYHRM; -.
OrthoDB; EOG091G0H57; -.
PhylomeDB; Q8N0X2; -.
TreeFam; TF351566; -.
SignaLink; Q8N0X2; -.
ChiTaRS; SPAG16; human.
GenomeRNAi; 79582; -.
PRO; PR:Q8N0X2; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000144451; -.
CleanEx; HS_SPAG16; -.
ExpressionAtlas; Q8N0X2; baseline and differential.
Genevisible; Q8N0X2; HS.
GO; GO:1990716; C:axonemal central apparatus; IEA:Ensembl.
GO; GO:0005930; C:axoneme; ISS:UniProtKB.
GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
GO; GO:0031514; C:motile cilium; IEA:UniProtKB-KW.
GO; GO:0005634; C:nucleus; IEA:Ensembl.
GO; GO:0035082; P:axoneme assembly; IMP:GO_Central.
GO; GO:0097231; P:cell motility in response to calcium ion; IEA:Ensembl.
GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
GO; GO:0060294; P:cilium movement involved in cell motility; IEA:Ensembl.
GO; GO:0051012; P:microtubule sliding; IEA:Ensembl.
GO; GO:0007288; P:sperm axoneme assembly; IEA:Ensembl.
Gene3D; 2.120.10.30; -; 1.
Gene3D; 2.130.10.10; -; 1.
InterPro; IPR011042; 6-blade_b-propeller_TolB-like.
InterPro; IPR020472; G-protein_beta_WD-40_rep.
InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
InterPro; IPR001680; WD40_repeat.
InterPro; IPR019775; WD40_repeat_CS.
InterPro; IPR017986; WD40_repeat_dom.
Pfam; PF00400; WD40; 5.
PRINTS; PR00320; GPROTEINBRPT.
SMART; SM00320; WD40; 7.
SUPFAM; SSF50978; SSF50978; 1.
PROSITE; PS00678; WD_REPEATS_1; 3.
PROSITE; PS50082; WD_REPEATS_2; 5.
PROSITE; PS50294; WD_REPEATS_REGION; 1.
2: Evidence at transcript level;
Alternative splicing; Cell projection; Cilium;
Cilium biogenesis/degradation; Coiled coil; Complete proteome;
Cytoplasm; Cytoskeleton; Flagellum; Phosphoprotein; Polymorphism;
Reference proteome; Repeat; WD repeat.
CHAIN 1 631 Sperm-associated antigen 16 protein.
/FTId=PRO_0000051223.
REPEAT 350 389 WD 1.
REPEAT 392 431 WD 2.
REPEAT 434 473 WD 3.
REPEAT 476 515 WD 4.
REPEAT 518 557 WD 5.
REPEAT 560 600 WD 6.
REPEAT 601 630 WD 7.
COILED 152 267 {ECO:0000255}.
VAR_SEQ 1 149 Missing (in isoform 2).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_013494.
VAR_SEQ 1 61 MAAQRGMPSSAVRVLEEALGMGLTAAGDARDTADAVAAEGA
YYLEQVTITEASEDDYEYEE -> MGVGTKARASHWRRLLS
LGATPEEPLLDFK (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_013493.
VAR_SEQ 150 179 VPDVYTQIMLLENENKNLKKDLKHYKQAAD -> MTILASQ
KVKKIWQKQFRWPKNRLQILKFC (in isoform 2).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_013495.
VAR_SEQ 179 183 DKARE -> EYVIF (in isoform 4).
{ECO:0000303|PubMed:11867345,
ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|Ref.4}.
/FTId=VSP_013496.
VAR_SEQ 184 631 Missing (in isoform 4).
{ECO:0000303|PubMed:11867345,
ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|Ref.4}.
/FTId=VSP_013497.
VAR_SEQ 278 282 VDHSR -> GKGCM (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_013498.
VAR_SEQ 283 631 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_013499.
VAR_SEQ 315 347 DSEFPIDMQPNPNLNVSKESLSPAKFDYKLKNI -> QWTG
NSQTWNKTVPLQDTIGRRQENNSAHQHID (in isoform
5). {ECO:0000303|PubMed:17974005}.
/FTId=VSP_013500.
VAR_SEQ 348 631 Missing (in isoform 5).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_013501.
VAR_SEQ 574 631 GRVLAQASGNGVIHLLDLKSGEIHKLMGHENEAHTVVFSHD
GEILFSGGSDGTVRTWS -> ENTTYLYRPGAQIYYFQLS
(in isoform 2).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_013502.
VARIANT 324 324 P -> T (in dbSNP:rs10167688).
/FTId=VAR_053418.
VARIANT 361 361 Q -> H (in dbSNP:rs2042791).
{ECO:0000269|PubMed:11867345}.
/FTId=VAR_022366.
VARIANT 425 425 K -> T (in dbSNP:rs12623569).
{ECO:0000269|PubMed:11867345,
ECO:0000269|PubMed:12391165}.
/FTId=VAR_022367.
CONFLICT 49 49 I -> T (in Ref. 4; CAG33640).
{ECO:0000305}.
CONFLICT 100 100 P -> L (in Ref. 4; CAG33640).
{ECO:0000305}.
CONFLICT 173 173 H -> Q (in Ref. 4; CAG33640).
{ECO:0000305}.
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


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