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Sperm-associated antigen 6 (Protein PF16 homolog) (Repro-SA-1) (Sperm flagellar protein)

 SPAG6_HUMAN             Reviewed;         509 AA.
O75602; A8K1I8; B4DXZ4; Q5VUX5; Q5VUX6; Q5VUX7; Q6FI74; Q8NHQ6;
26-APR-2005, integrated into UniProtKB/Swiss-Prot.
01-NOV-1998, sequence version 1.
12-SEP-2018, entry version 147.
RecName: Full=Sperm-associated antigen 6;
AltName: Full=Protein PF16 homolog;
AltName: Full=Repro-SA-1;
AltName: Full=Sperm flagellar protein;
Name=SPAG6; Synonyms=PF16;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY,
AND SUBCELLULAR LOCATION.
TISSUE=Testis;
PubMed=10493827; DOI=10.1006/geno.1999.5914;
Neilson L.I., Schneider P.A., Van Deerlin P.G., Kiriakidou M.,
Driscoll D.A., Pellegrini M.C., Millinder S., Yamamoto K.K.,
French C.K., Strauss J.F. III;
"cDNA cloning and characterization of a human sperm antigen (SPAG6)
with homology to the product of the Chlamydomonas PF16 locus.";
Genomics 60:272-280(1999).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
PubMed=11230166; DOI=10.1101/gr.GR1547R;
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
Wambutt R., Korn B., Klein M., Poustka A.;
"Towards a catalog of human genes and proteins: sequencing and
analysis of 500 novel complete protein coding human cDNAs.";
Genome Res. 11:422-435(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
TISSUE=Corpus callosum, and Testis;
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).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORMS 1; 2; 3 AND
4).
PubMed=15164054; DOI=10.1038/nature02462;
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
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).
[8]
VARIANT [LARGE SCALE ANALYSIS] LEU-106.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- FUNCTION: Important for structural integrity of the central
apparatus in the sperm tail and for flagellar motility.
{ECO:0000250, ECO:0000269|PubMed:10493827}.
-!- SUBUNIT: Interacts with SPAG16 and SPAG17. {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
{ECO:0000269|PubMed:10493827}. Cell projection, cilium, flagellum
{ECO:0000269|PubMed:10493827}. Note=Associated with microtubules.
Detected on the sperm flagellum.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1;
IsoId=O75602-1; Sequence=Displayed;
Name=2;
IsoId=O75602-2; Sequence=VSP_013444, VSP_013445;
Name=3;
IsoId=O75602-3; Sequence=VSP_013442;
Note=Derived from EST data. No experimental confirmation
available.;
Name=4;
IsoId=O75602-4; Sequence=VSP_013443;
Note=Derived from EST data. No experimental confirmation
available.;
Name=5;
IsoId=O75602-5; Sequence=VSP_045337;
-!- TISSUE SPECIFICITY: Highly expressed in testis.
{ECO:0000269|PubMed:10493827}.
-----------------------------------------------------------------------
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EMBL; AF079363; AAC32590.1; -; mRNA.
EMBL; AL080136; CAB45730.1; -; mRNA.
EMBL; CR533552; CAG38583.1; -; mRNA.
EMBL; AK289903; BAF82592.1; -; mRNA.
EMBL; AK302194; BAG63556.1; -; mRNA.
EMBL; AL158211; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL513128; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471072; EAW86146.1; -; Genomic_DNA.
EMBL; BC030585; AAH30585.1; -; mRNA.
CCDS; CCDS58071.1; -. [O75602-5]
CCDS; CCDS7139.1; -. [O75602-1]
CCDS; CCDS7140.1; -. [O75602-2]
PIR; T12521; T12521.
RefSeq; NP_001240783.1; NM_001253854.1. [O75602-5]
RefSeq; NP_001240784.1; NM_001253855.1.
RefSeq; NP_036575.1; NM_012443.3. [O75602-1]
RefSeq; NP_758442.1; NM_172242.2. [O75602-2]
UniGene; Hs.655170; -.
ProteinModelPortal; O75602; -.
BioGrid; 114945; 2.
STRING; 9606.ENSP00000365811; -.
iPTMnet; O75602; -.
PhosphoSitePlus; O75602; -.
BioMuta; SPAG6; -.
PaxDb; O75602; -.
PeptideAtlas; O75602; -.
PRIDE; O75602; -.
ProteomicsDB; 50107; -.
ProteomicsDB; 50108; -. [O75602-2]
ProteomicsDB; 50109; -. [O75602-3]
ProteomicsDB; 50110; -. [O75602-4]
DNASU; 9576; -.
Ensembl; ENST00000313311; ENSP00000323599; ENSG00000077327. [O75602-2]
Ensembl; ENST00000376624; ENSP00000365811; ENSG00000077327. [O75602-1]
Ensembl; ENST00000538630; ENSP00000441325; ENSG00000077327. [O75602-5]
GeneID; 9576; -.
KEGG; hsa:9576; -.
UCSC; uc001iri.4; human. [O75602-1]
CTD; 9576; -.
DisGeNET; 9576; -.
EuPathDB; HostDB:ENSG00000077327.15; -.
GeneCards; SPAG6; -.
HGNC; HGNC:11215; SPAG6.
HPA; HPA038440; -.
MIM; 605730; gene.
neXtProt; NX_O75602; -.
OpenTargets; ENSG00000077327; -.
PharmGKB; PA36051; -.
eggNOG; KOG0166; Eukaryota.
eggNOG; COG5064; LUCA.
GeneTree; ENSGT00900000141099; -.
HOVERGEN; HBG055326; -.
InParanoid; O75602; -.
OMA; RVENYQP; -.
OrthoDB; EOG091G07CA; -.
PhylomeDB; O75602; -.
TreeFam; TF328894; -.
SignaLink; O75602; -.
ChiTaRS; SPAG6; human.
GeneWiki; SPAG6; -.
GenomeRNAi; 9576; -.
PRO; PR:O75602; -.
Proteomes; UP000005640; Chromosome 10.
Bgee; ENSG00000077327; Expressed in 96 organ(s), highest expression level in bronchial epithelial cell.
CleanEx; HS_SPAG6; -.
ExpressionAtlas; O75602; baseline and differential.
Genevisible; O75602; HS.
GO; GO:0005930; C:axoneme; TAS:ProtInc.
GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
GO; GO:0015630; C:microtubule cytoskeleton; IDA:LIFEdb.
GO; GO:0031514; C:motile cilium; IEA:UniProtKB-SubCell.
GO; GO:0005634; C:nucleus; HDA:UniProtKB.
GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW.
GO; GO:0007286; P:spermatid development; TAS:ProtInc.
Gene3D; 1.25.10.10; -; 2.
InterPro; IPR011989; ARM-like.
InterPro; IPR016024; ARM-type_fold.
InterPro; IPR000225; Armadillo.
Pfam; PF00514; Arm; 4.
SMART; SM00185; ARM; 7.
SUPFAM; SSF48371; SSF48371; 1.
2: Evidence at transcript level;
Alternative splicing; Cell projection; Cilium;
Cilium biogenesis/degradation; Complete proteome; Cytoplasm;
Cytoskeleton; Flagellum; Microtubule; Polymorphism;
Reference proteome; Repeat.
CHAIN 1 509 Sperm-associated antigen 6.
/FTId=PRO_0000072095.
REPEAT 31 70 ARM 1.
REPEAT 73 112 ARM 2.
REPEAT 115 154 ARM 3.
REPEAT 157 196 ARM 4.
REPEAT 199 238 ARM 5.
REPEAT 241 280 ARM 6.
REPEAT 325 365 ARM 7.
REPEAT 368 409 ARM 8.
VAR_SEQ 1 39 MSQRQVLQVFEQYQKARTQFVQMVAELATRPQNIETLQN
-> MHSLTMDLWIPNGQ (in isoform 5).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_045337.
VAR_SEQ 41 41 G -> GEPGARTPVAPRALSPRRLRPAALPVELLGSRSVGT
GVRKSIHSFQRVFGGQAERVKLPDGCGRCALSLFPSSLHTG
(in isoform 3). {ECO:0000305}.
/FTId=VSP_013442.
VAR_SEQ 97 335 Missing (in isoform 4). {ECO:0000305}.
/FTId=VSP_013443.
VAR_SEQ 441 458 PHDSKARRLFVTSGGLKK -> FPWIFRYTSAEGGQLSTT
(in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_013444.
VAR_SEQ 459 509 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_013445.
VARIANT 106 106 V -> L (in a breast cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_035659.
VARIANT 216 216 Q -> R (in dbSNP:rs7074847).
/FTId=VAR_024282.
CONFLICT 60 60 T -> I (in Ref. 7; AAH30585).
{ECO:0000305}.
CONFLICT 161 161 Q -> R (in Ref. 3; CAG38583).
{ECO:0000305}.
CONFLICT 185 185 R -> G (in Ref. 7; AAH30585).
{ECO:0000305}.
CONFLICT 195 195 A -> V (in Ref. 7; AAH30585).
{ECO:0000305}.
SEQUENCE 509 AA; 55476 MW; 03D868E31D3883E1 CRC64;
MSQRQVLQVF EQYQKARTQF VQMVAELATR PQNIETLQNA GVMSLLRTLL LDVVPTIQQT
AALALGRLAN YNDDLAEAVV KCDILPQLVY SLAEQNRFYK KAAAFVLRAV GKHSPQLAQA
IVDCGALDTL VICLEDFDPG VKEAAAWALR YIARHNAELS QAVVDAGAVP LLVLCIQEPE
IALKRIAASA LSDIAKHSPE LAQTVVDAGA VAHLAQMILN PDAKLKHQIL SALSQVSKHS
VDLAEMVVEA EIFPVVLTCL KDKDEYVKKN ASTLIREIAK HTPELSQLVV NAGGVAAVID
CIGSCKGNTR LPGIMMLGYV AAHSENLAMA VIISKGVPQL SVCLSEEPED HIKAAAAWAL
GQIGRHTPEH ARAVAVTNTL PVLLSLYMST ESSEDLQVKS KKAIKNILQK CTYLPALEPF
LYDAPPNILK HVVGQFSKVL PHDSKARRLF VTSGGLKKVQ EIKAEPGSLL QEYINSINSC
YPEEIVRYYS PGYSDTLLQR VDSYQPLNN


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