SPOC1_HUMAN
ID SPOC1_HUMAN Reviewed; 1216 AA.
AC Q6ZMY3; Q24JU3; Q6PI90; Q8N869; Q8N8U0; Q8NBC6; Q96LN6;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=SPOC domain-containing protein 1;
GN Name=SPOCD1;
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] (ISOFORMS 1; 3 AND 4), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 403-1216 (ISOFORM 5).
RC TISSUE=Brain, Spleen, 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ALA-109.
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).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] TRP-671.
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: Essential excecutor of PIWIL4-piRNA pathway directed
CC transposon DNA methylation and silencing in the male embryonic germ
CC cells (By similarity). Associates with the de novo DNA methylation
CC machinery and repressive chromatin remodeling complexes (By
CC similarity). Tethering of PIWIL4 to a nascent transposable element
CC transcript recruits repressive chromatin remodeling activities and the
CC de novo methylation apparatus through SPOCD1 (By similarity). Not
CC required for piRNA biosynthesis (By similarity).
CC {ECO:0000250|UniProtKB:B1ASB6}.
CC -!- SUBUNIT: Interacts with DNMT3A, DNMT3C and DNMT3L.
CC {ECO:0000250|UniProtKB:B1ASB6}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:B1ASB6}.
CC Chromosome {ECO:0000250|UniProtKB:B1ASB6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q6ZMY3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZMY3-2; Sequence=VSP_025497;
CC Name=3;
CC IsoId=Q6ZMY3-3; Sequence=VSP_025490, VSP_025497;
CC Name=4;
CC IsoId=Q6ZMY3-4; Sequence=VSP_025489, VSP_025494, VSP_025495,
CC VSP_025496;
CC Name=5;
CC IsoId=Q6ZMY3-5; Sequence=VSP_025491, VSP_025492, VSP_025493;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH39870.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB71652.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC04981.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK058077; BAB71652.1; ALT_INIT; mRNA.
DR EMBL; AK091016; BAC03567.1; -; mRNA.
DR EMBL; AK096192; BAC04722.1; -; mRNA.
DR EMBL; AK097227; BAC04981.1; ALT_INIT; mRNA.
DR EMBL; AK131447; BAD18592.1; -; mRNA.
DR EMBL; AL354919; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC039870; AAH39870.1; ALT_INIT; mRNA.
DR EMBL; BC114430; AAI14431.1; -; mRNA.
DR CCDS; CCDS347.1; -. [Q6ZMY3-1]
DR CCDS; CCDS60066.1; -. [Q6ZMY3-2]
DR CCDS; CCDS72748.1; -. [Q6ZMY3-3]
DR RefSeq; NP_001268916.1; NM_001281987.1. [Q6ZMY3-2]
DR RefSeq; NP_001268917.1; NM_001281988.1. [Q6ZMY3-3]
DR RefSeq; NP_653170.3; NM_144569.5. [Q6ZMY3-1]
DR RefSeq; XP_011540715.1; XM_011542413.2. [Q6ZMY3-3]
DR RefSeq; XP_011540716.1; XM_011542414.2. [Q6ZMY3-3]
DR AlphaFoldDB; Q6ZMY3; -.
DR SMR; Q6ZMY3; -.
DR BioGRID; 124772; 3.
DR IntAct; Q6ZMY3; 2.
DR STRING; 9606.ENSP00000353670; -.
DR iPTMnet; Q6ZMY3; -.
DR PhosphoSitePlus; Q6ZMY3; -.
DR BioMuta; SPOCD1; -.
DR DMDM; 74749560; -.
DR jPOST; Q6ZMY3; -.
DR MassIVE; Q6ZMY3; -.
DR PaxDb; Q6ZMY3; -.
DR PeptideAtlas; Q6ZMY3; -.
DR PRIDE; Q6ZMY3; -.
DR ProteomicsDB; 67931; -. [Q6ZMY3-1]
DR ProteomicsDB; 67932; -. [Q6ZMY3-2]
DR ProteomicsDB; 67933; -. [Q6ZMY3-3]
DR ProteomicsDB; 67934; -. [Q6ZMY3-4]
DR ProteomicsDB; 67935; -. [Q6ZMY3-5]
DR Antibodypedia; 31194; 27 antibodies from 12 providers.
DR DNASU; 90853; -.
DR Ensembl; ENST00000257100.7; ENSP00000257100.3; ENSG00000134668.13. [Q6ZMY3-3]
DR Ensembl; ENST00000360482.7; ENSP00000353670.2; ENSG00000134668.13. [Q6ZMY3-1]
DR Ensembl; ENST00000533231.5; ENSP00000435851.1; ENSG00000134668.13. [Q6ZMY3-2]
DR GeneID; 90853; -.
DR KEGG; hsa:90853; -.
DR MANE-Select; ENST00000360482.7; ENSP00000353670.2; NM_144569.7; NP_653170.3.
DR UCSC; uc001bts.3; human. [Q6ZMY3-1]
DR CTD; 90853; -.
DR DisGeNET; 90853; -.
DR GeneCards; SPOCD1; -.
DR HGNC; HGNC:26338; SPOCD1.
DR HPA; ENSG00000134668; Tissue enhanced (brain, testis, urinary bladder).
DR MIM; 619038; gene.
DR neXtProt; NX_Q6ZMY3; -.
DR OpenTargets; ENSG00000134668; -.
DR PharmGKB; PA134930231; -.
DR VEuPathDB; HostDB:ENSG00000134668; -.
DR eggNOG; KOG1634; Eukaryota.
DR GeneTree; ENSGT00940000162194; -.
DR HOGENOM; CLU_029996_0_0_1; -.
DR InParanoid; Q6ZMY3; -.
DR OMA; DTCASSW; -.
DR OrthoDB; 174961at2759; -.
DR PhylomeDB; Q6ZMY3; -.
DR TreeFam; TF350578; -.
DR PathwayCommons; Q6ZMY3; -.
DR SignaLink; Q6ZMY3; -.
DR BioGRID-ORCS; 90853; 12 hits in 1067 CRISPR screens.
DR ChiTaRS; SPOCD1; human.
DR GenomeRNAi; 90853; -.
DR Pharos; Q6ZMY3; Tdark.
DR PRO; PR:Q6ZMY3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q6ZMY3; protein.
DR Bgee; ENSG00000134668; Expressed in stromal cell of endometrium and 122 other tissues.
DR ExpressionAtlas; Q6ZMY3; baseline and differential.
DR Genevisible; Q6ZMY3; HS.
DR GO; GO:0005694; C:chromosome; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0006306; P:DNA methylation; ISS:UniProtKB.
DR GO; GO:0031047; P:gene silencing by RNA; IEA:UniProtKB-KW.
DR GO; GO:0010529; P:negative regulation of transposition; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR GO; GO:0006351; P:transcription, DNA-templated; IBA:GO_Central.
DR Gene3D; 1.10.472.30; -; 1.
DR InterPro; IPR012921; SPOC_C.
DR InterPro; IPR003618; TFIIS_cen_dom.
DR InterPro; IPR036575; TFIIS_cen_dom_sf.
DR Pfam; PF07744; SPOC; 1.
DR Pfam; PF07500; TFIIS_M; 1.
DR SMART; SM00510; TFS2M; 1.
DR SUPFAM; SSF46942; SSF46942; 1.
DR PROSITE; PS51321; TFIIS_CENTRAL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Chromosome; Differentiation; Nucleus;
KW Reference proteome; RNA-mediated gene silencing; Spermatogenesis.
FT CHAIN 1..1216
FT /note="SPOC domain-containing protein 1"
FT /id="PRO_0000287472"
FT DOMAIN 608..728
FT /note="TFIIS central"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00651"
FT DOMAIN 867..970
FT /note="SPOC"
FT REGION 1..74
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 166..216
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 236..325
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 348..462
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 511..601
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 823..850
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1046..1140
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1176..1216
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 15..34
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 392..406
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 439..458
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..656
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025489"
FT VAR_SEQ 1..507
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025490"
FT VAR_SEQ 476..534
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025491"
FT VAR_SEQ 596..603
FT /note="QLQQEKPS -> FGSSRTQC (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025492"
FT VAR_SEQ 604..1216
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025493"
FT VAR_SEQ 657..676
FT /note="GRYKTKYRSLLFNLRDPRNL -> MLGWGSSFSVWCSPAPCPHQ (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025494"
FT VAR_SEQ 758..788
FT /note="GPQMFMDCSPQALPIASEDTTGQHDHHFLDP -> VKLEPDLVLGRAHAWGS
FT HASPHQQCGLGHVT (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025495"
FT VAR_SEQ 789..1216
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025496"
FT VAR_SEQ 987..999
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_025497"
FT VARIANT 109
FT /note="T -> A (in dbSNP:rs6664445)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_051379"
FT VARIANT 436
FT /note="R -> W (in dbSNP:rs6669563)"
FT /id="VAR_051380"
FT VARIANT 671
FT /note="R -> W (in a breast cancer sample; somatic mutation;
FT dbSNP:rs1165078436)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035660"
FT CONFLICT 549
FT /note="G -> D (in Ref. 1; BAC04981)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1216 AA; 130027 MW; 6887432C45E232DD CRC64;
MSQAGDVEGP STGDPVLSPQ HNCELLQNME GASSMPGLSP DGPGASSGPG VRAGSRRKIP
RKEALRGGSS RAAGAAEVRP GVLELLAVVQ SRGSMLAPGL HMQLPSVPTQ GRALTSKRLQ
VSLCDILDDS CPRKLCSRSA GLPERALACR ERLAGVEEVS CLRPREARDG GMSSPGCDRR
SPTLSKEEPP GRPLTSSPDP VPVRVRKKWR RQGAHSECEE GAGDFLWLDQ SPRGDNLLSV
GDPPQVADLE SLGGPCRPPS PKDTGSGPGE PGGSGAGCAS GTEKFGYLPA TGDGPQPGSP
CGPVGFPVPS GGESLSSAAQ APPQSAALCL GASAQASAEQ QEAVCVVRTG SDEGQAPAQD
QEELEAKAQP ASRGRLEQGL AAPADTCASS REPLGGLSSS LDTEASRACS GPFMEQRRSK
GTKNLKKGPV PCAQDRGTDR SSDNSHQDRP EEPSPGGCPR LEEVKIPHGV KLVCYLGSGP
VIQLLGAISH GQAGGQLPPK LEVLEDLMEV SSPSPAQRLR RKKRPMVQGP AGCQVFQPSP
SGGTAGDPGG LSDPFYPPRS GSLALGDPSS DPACSQSGPM EAEEDSLPEQ PEDSAQLQQE
KPSLYIGVRG TVVRSMQEVL WTRLRELPDP VLSEEVVEGI AAGIEAALWD LTQGTNGRYK
TKYRSLLFNL RDPRNLDLFL KVVHGDVTPY DLVRMSSMQL APQELARWRD QEEKRGLNII
EQQQKEPCRL PASKMTHKGE VEIQRDMDQT LTLEDLVGPQ MFMDCSPQAL PIASEDTTGQ
HDHHFLDPNC HICKDWEPSN ELLGSFEAAK SCGDNIFQKA LSQTPMPAPE MPKTRELSPT
EPQDRVPPSG LHVPAAPTKA LPCLPPWEGV LDMFSIKRFR ARAQLVSGHS CRLVQALPTV
IRSAGCIPSN IVWDLLASIC PAKAKDVCVV RLCPHGARDT QNCRLLYSYL NDRQRHGLAS
VEHMGMVLLP LPAFQPLPTR LRPLGGPGLW ALPVSPLLSP GLEVTHSSLL LAVLLPKEGL
PDTAGSSPWL GKVQKMVSFN SKVEKRYYQP DDRRPNVPLK GTPPPGGAWQ QSQGRGSIAP
RGISAWQRPP RGRGRLWPEP ENWQHPGRGQ WPPEPGLRQS QHPYSVAPAG HGFGRGQHFH
RDSCPHQALL RHLESLATMS HQLQALLCPQ TKSSIPRPLQ RLSSALAAPE PPGPARDSSL
GPTDEAGSEC PFPRKA
