SPAG6_HUMAN
ID SPAG6_HUMAN Reviewed; 509 AA.
AC O75602; A8K1I8; B4DXZ4; Q5VUX5; Q5VUX6; Q5VUX7; Q6FI74; Q8NHQ6;
DT 26-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Sperm-associated antigen 6;
DE AltName: Full=Protein PF16 homolog;
DE AltName: Full=Repro-SA-1;
DE AltName: Full=Sperm flagellar protein;
GN Name=SPAG6; Synonyms=PF16;
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] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, AND
RP SUBCELLULAR LOCATION.
RC TISSUE=Testis;
RX PubMed=10493827; DOI=10.1006/geno.1999.5914;
RA Neilson L.I., Schneider P.A., Van Deerlin P.G., Kiriakidou M.,
RA Driscoll D.A., Pellegrini M.C., Millinder S., Yamamoto K.K., French C.K.,
RA Strauss J.F. III;
RT "cDNA cloning and characterization of a human sperm antigen (SPAG6) with
RT homology to the product of the Chlamydomonas PF16 locus.";
RL Genomics 60:272-280(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
RC TISSUE=Corpus callosum, 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORMS 1; 2; 3 AND 4).
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [8]
RP VARIANT [LARGE SCALE ANALYSIS] LEU-106.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Important for structural integrity of the central apparatus
CC in the sperm tail and for flagellar motility. {ECO:0000250,
CC ECO:0000269|PubMed:10493827}.
CC -!- SUBUNIT: Interacts with SPAG16 and SPAG17. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:10493827}. Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:10493827}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q9JLI7}. Note=Associated with microtubules.
CC Detected on the sperm flagellum (PubMed:10493827). Localizes in the
CC cilium axoneme in a SPEF1-dependent manner (By similarity).
CC {ECO:0000250|UniProtKB:Q9JLI7, ECO:0000269|PubMed:10493827}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=O75602-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75602-2; Sequence=VSP_013444, VSP_013445;
CC Name=3;
CC IsoId=O75602-3; Sequence=VSP_013442;
CC Name=4;
CC IsoId=O75602-4; Sequence=VSP_013443;
CC Name=5;
CC IsoId=O75602-5; Sequence=VSP_045337;
CC -!- TISSUE SPECIFICITY: Highly expressed in testis.
CC {ECO:0000269|PubMed:10493827}.
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DR EMBL; AF079363; AAC32590.1; -; mRNA.
DR EMBL; AL080136; CAB45730.1; -; mRNA.
DR EMBL; CR533552; CAG38583.1; -; mRNA.
DR EMBL; AK289903; BAF82592.1; -; mRNA.
DR EMBL; AK302194; BAG63556.1; -; mRNA.
DR EMBL; AL158211; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL513128; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471072; EAW86146.1; -; Genomic_DNA.
DR EMBL; BC030585; AAH30585.1; -; mRNA.
DR CCDS; CCDS58071.1; -. [O75602-5]
DR CCDS; CCDS7139.1; -. [O75602-1]
DR CCDS; CCDS7140.1; -. [O75602-2]
DR PIR; T12521; T12521.
DR RefSeq; NP_001240783.1; NM_001253854.1. [O75602-5]
DR RefSeq; NP_001240784.1; NM_001253855.1.
DR RefSeq; NP_036575.1; NM_012443.3. [O75602-1]
DR RefSeq; NP_758442.1; NM_172242.2. [O75602-2]
DR AlphaFoldDB; O75602; -.
DR SMR; O75602; -.
DR BioGRID; 114945; 25.
DR IntAct; O75602; 1.
DR STRING; 9606.ENSP00000365811; -.
DR iPTMnet; O75602; -.
DR PhosphoSitePlus; O75602; -.
DR BioMuta; SPAG6; -.
DR EPD; O75602; -.
DR MassIVE; O75602; -.
DR PaxDb; O75602; -.
DR PeptideAtlas; O75602; -.
DR PRIDE; O75602; -.
DR ProteomicsDB; 50107; -. [O75602-1]
DR ProteomicsDB; 50108; -. [O75602-2]
DR ProteomicsDB; 50109; -. [O75602-3]
DR ProteomicsDB; 50110; -. [O75602-4]
DR ProteomicsDB; 5482; -.
DR Antibodypedia; 25669; 165 antibodies from 24 providers.
DR DNASU; 9576; -.
DR Ensembl; ENST00000313311.10; ENSP00000323599.6; ENSG00000077327.16. [O75602-2]
DR Ensembl; ENST00000376624.8; ENSP00000365811.3; ENSG00000077327.16. [O75602-1]
DR Ensembl; ENST00000538630.2; ENSP00000441325.1; ENSG00000077327.16. [O75602-5]
DR GeneID; 9576; -.
DR KEGG; hsa:9576; -.
DR MANE-Select; ENST00000376624.8; ENSP00000365811.3; NM_012443.4; NP_036575.1.
DR UCSC; uc001iri.4; human. [O75602-1]
DR CTD; 9576; -.
DR DisGeNET; 9576; -.
DR GeneCards; SPAG6; -.
DR HGNC; HGNC:11215; SPAG6.
DR HPA; ENSG00000077327; Tissue enhanced (brain, choroid plexus, fallopian tube, testis).
DR MIM; 605730; gene.
DR neXtProt; NX_O75602; -.
DR OpenTargets; ENSG00000077327; -.
DR PharmGKB; PA36051; -.
DR VEuPathDB; HostDB:ENSG00000077327; -.
DR eggNOG; KOG0166; Eukaryota.
DR GeneTree; ENSGT00900000141099; -.
DR HOGENOM; CLU_022627_1_0_1; -.
DR InParanoid; O75602; -.
DR OMA; GRHTSEH; -.
DR PhylomeDB; O75602; -.
DR TreeFam; TF328894; -.
DR PathwayCommons; O75602; -.
DR SignaLink; O75602; -.
DR SIGNOR; O75602; -.
DR BioGRID-ORCS; 9576; 12 hits in 1075 CRISPR screens.
DR ChiTaRS; SPAG6; human.
DR GeneWiki; SPAG6; -.
DR GenomeRNAi; 9576; -.
DR Pharos; O75602; Tbio.
DR PRO; PR:O75602; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; O75602; protein.
DR Bgee; ENSG00000077327; Expressed in bronchial epithelial cell and 119 other tissues.
DR ExpressionAtlas; O75602; baseline and differential.
DR Genevisible; O75602; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IBA:GO_Central.
DR GO; GO:0005930; C:axoneme; IDA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0015630; C:microtubule cytoskeleton; IDA:LIFEdb.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0097228; C:sperm principal piece; IDA:UniProtKB.
DR GO; GO:0008017; F:microtubule binding; IBA:GO_Central.
DR GO; GO:0003341; P:cilium movement; IBA:GO_Central.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IBA:GO_Central.
DR GO; GO:0046847; P:filopodium assembly; IBA:GO_Central.
DR GO; GO:1990138; P:neuron projection extension; IBA:GO_Central.
DR GO; GO:0007288; P:sperm axoneme assembly; IBA:GO_Central.
DR Gene3D; 1.25.10.10; -; 2.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR000225; Armadillo.
DR Pfam; PF00514; Arm; 4.
DR SMART; SM00185; ARM; 7.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Flagellum;
KW Microtubule; Reference proteome; Repeat.
FT CHAIN 1..509
FT /note="Sperm-associated antigen 6"
FT /id="PRO_0000072095"
FT REPEAT 31..70
FT /note="ARM 1"
FT REPEAT 73..112
FT /note="ARM 2"
FT REPEAT 115..154
FT /note="ARM 3"
FT REPEAT 157..196
FT /note="ARM 4"
FT REPEAT 199..238
FT /note="ARM 5"
FT REPEAT 241..280
FT /note="ARM 6"
FT REPEAT 325..365
FT /note="ARM 7"
FT REPEAT 368..409
FT /note="ARM 8"
FT VAR_SEQ 1..39
FT /note="MSQRQVLQVFEQYQKARTQFVQMVAELATRPQNIETLQN -> MHSLTMDLW
FT IPNGQ (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045337"
FT VAR_SEQ 41
FT /note="G -> GEPGARTPVAPRALSPRRLRPAALPVELLGSRSVGTGVRKSIHSFQR
FT VFGGQAERVKLPDGCGRCALSLFPSSLHTG (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_013442"
FT VAR_SEQ 97..335
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_013443"
FT VAR_SEQ 441..458
FT /note="PHDSKARRLFVTSGGLKK -> FPWIFRYTSAEGGQLSTT (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013444"
FT VAR_SEQ 459..509
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013445"
FT VARIANT 106
FT /note="V -> L (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035659"
FT VARIANT 216
FT /note="Q -> R (in dbSNP:rs7074847)"
FT /id="VAR_024282"
FT CONFLICT 60
FT /note="T -> I (in Ref. 7; AAH30585)"
FT /evidence="ECO:0000305"
FT CONFLICT 161
FT /note="Q -> R (in Ref. 3; CAG38583)"
FT /evidence="ECO:0000305"
FT CONFLICT 185
FT /note="R -> G (in Ref. 7; AAH30585)"
FT /evidence="ECO:0000305"
FT CONFLICT 195
FT /note="A -> V (in Ref. 7; AAH30585)"
FT /evidence="ECO:0000305"
SQ 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
