SPA6L_HUMAN
ID SPA6L_HUMAN Reviewed; 392 AA.
AC Q8N4H0; B4DIY4; Q5JVJ5; Q8IY90;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Spermatogenesis associated 6-like protein;
GN Name=SPATA6L; Synonyms=C9orf68;
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 [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Hippocampus;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP GLY-243.
RC TISSUE=Brain;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N4H0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N4H0-2; Sequence=VSP_014315, VSP_014316, VSP_014317;
CC Name=3;
CC IsoId=Q8N4H0-3; Sequence=VSP_043770;
CC -!- MISCELLANEOUS: [Isoform 1]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay.
CC -!- SIMILARITY: Belongs to the SPATA6 family. {ECO:0000305}.
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DR EMBL; AK295831; BAG58646.1; -; mRNA.
DR EMBL; AL136231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034293; AAH34293.1; -; mRNA.
DR EMBL; BC036349; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS43785.2; -. [Q8N4H0-3]
DR RefSeq; NP_001034484.3; NM_001039395.3. [Q8N4H0-3]
DR RefSeq; XP_006716862.1; XM_006716799.3.
DR AlphaFoldDB; Q8N4H0; -.
DR BioGRID; 120382; 4.
DR IntAct; Q8N4H0; 3.
DR iPTMnet; Q8N4H0; -.
DR PhosphoSitePlus; Q8N4H0; -.
DR BioMuta; SPATA6L; -.
DR DMDM; 68565209; -.
DR MassIVE; Q8N4H0; -.
DR PeptideAtlas; Q8N4H0; -.
DR PRIDE; Q8N4H0; -.
DR ProteomicsDB; 71931; -. [Q8N4H0-1]
DR ProteomicsDB; 71932; -. [Q8N4H0-2]
DR ProteomicsDB; 71933; -. [Q8N4H0-3]
DR Antibodypedia; 24022; 69 antibodies from 13 providers.
DR DNASU; 55064; -.
DR Ensembl; ENST00000406861.6; ENSP00000384342.2; ENSG00000106686.17. [Q8N4H0-2]
DR Ensembl; ENST00000461761.5; ENSP00000418458.1; ENSG00000106686.17. [Q8N4H0-1]
DR Ensembl; ENST00000475086.5; ENSP00000417063.1; ENSG00000106686.17. [Q8N4H0-3]
DR Ensembl; ENST00000486047.5; ENSP00000417965.1; ENSG00000106686.17. [Q8N4H0-2]
DR Ensembl; ENST00000682582.1; ENSP00000506787.1; ENSG00000106686.17. [Q8N4H0-1]
DR GeneID; 55064; -.
DR KEGG; hsa:55064; -.
DR MANE-Select; ENST00000682582.1; ENSP00000506787.1; NM_001353486.2; NP_001340415.1.
DR UCSC; uc003zil.4; human. [Q8N4H0-1]
DR CTD; 55064; -.
DR DisGeNET; 55064; -.
DR GeneCards; SPATA6L; -.
DR HGNC; HGNC:25472; SPATA6L.
DR HPA; ENSG00000106686; Low tissue specificity.
DR MalaCards; SPATA6L; -.
DR neXtProt; NX_Q8N4H0; -.
DR OpenTargets; ENSG00000106686; -.
DR PharmGKB; PA134880636; -.
DR VEuPathDB; HostDB:ENSG00000106686; -.
DR GeneTree; ENSGT00530000063821; -.
DR HOGENOM; CLU_038272_1_0_1; -.
DR InParanoid; Q8N4H0; -.
DR OMA; MWEELAY; -.
DR OrthoDB; 1154886at2759; -.
DR PhylomeDB; Q8N4H0; -.
DR TreeFam; TF328520; -.
DR PathwayCommons; Q8N4H0; -.
DR SignaLink; Q8N4H0; -.
DR BioGRID-ORCS; 55064; 10 hits in 1064 CRISPR screens.
DR ChiTaRS; SPATA6L; human.
DR GenomeRNAi; 55064; -.
DR Pharos; Q8N4H0; Tdark.
DR PRO; PR:Q8N4H0; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8N4H0; protein.
DR Bgee; ENSG00000106686; Expressed in oocyte and 116 other tissues.
DR ExpressionAtlas; Q8N4H0; baseline and differential.
DR Genevisible; Q8N4H0; HS.
DR GO; GO:0097224; C:sperm connecting piece; IEA:InterPro.
DR GO; GO:0032027; F:myosin light chain binding; IEA:InterPro.
DR GO; GO:0007283; P:spermatogenesis; IEA:InterPro.
DR InterPro; IPR042769; SPATA6_fam.
DR InterPro; IPR032732; SPATA6_N.
DR InterPro; IPR027208; SPATA6L.
DR PANTHER; PTHR16435; PTHR16435; 1.
DR PANTHER; PTHR16435:SF5; PTHR16435:SF5; 1.
DR Pfam; PF14909; SPATA6; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..392
FT /note="Spermatogenesis associated 6-like protein"
FT /id="PRO_0000089704"
FT REGION 286..305
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 286..304
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 260
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6AYJ3"
FT MOD_RES 263
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:B2RV46"
FT VAR_SEQ 60..117
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043770"
FT VAR_SEQ 76
FT /note="M -> SFLARFELIQLVPPV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014315"
FT VAR_SEQ 144..151
FT /note="EERHESRR -> VDSKSWLL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014316"
FT VAR_SEQ 152..392
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014317"
FT VARIANT 243
FT /note="R -> G (in dbSNP:rs10974657)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_053838"
FT VARIANT 310
FT /note="A -> T (in dbSNP:rs16921613)"
FT /id="VAR_053839"
FT CONFLICT 171
FT /note="K -> R (in Ref. 3; AAH34293)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 392 AA; 45058 MW; D66480A879881C9A CRC64;
MPLEVVVELQ IRAISCPGVF LPGKQDVYLG VYLMNQYLET NSFPSAFPIM IQESMRFEKV
FESAVDPGAV VDLLEMWDEL AYYEENTRDF LFPEPKLTPS HPRRCREVLM KTALGFPGIA
PKIEFSTRTA IRECVFLHRN RFLEERHESR RPLSTSHEPI FPLNTIKMKL KENNLNRLPK
GMQARAPSQY STRHFFQDQP AQLNLGNNFK ISGGSKPPFV VRHVDSAKPF GENISEHHLR
RSRRKSKFSD FPFPTRRASS LDSLAANVKV IKEPDERIVL RSDSSSCLDS SQFGKSSSSK
QGDADFHGKA SFATYQHSTS PGPLDQPLLR ERFHPGSQST WKNIHERVCS LLTSHRAQLH
QNKEDSTSEV NYIIERPSYP LKKYSLHEQR YF
