SPZ1_HUMAN
ID SPZ1_HUMAN Reviewed; 430 AA.
AC Q9BXG8; B2RA21; Q8N4P1; Q8N7E9;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Spermatogenic leucine zipper protein 1;
DE AltName: Full=Testis-specific protein 1;
DE AltName: Full=Testis-specific protein NYD-TSP1;
GN Name=SPZ1; Synonyms=TSP1;
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], TISSUE SPECIFICITY, AND VARIANT LEU-17.
RC TISSUE=Testis;
RX PubMed=12778315;
RA Sha J.-H., Zhou Z.-M., Li J.-M., Lin M., Zhu H., Zhu H., Zhou Y.-D.,
RA Wang L.-L., Wang Y.-Q., Zhou K.-Y.;
RT "Expression of a novel bHLH-Zip gene in human testis.";
RL Asian J. Androl. 5:83-88(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-17.
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-17.
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-17.
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 [6]
RP TISSUE SPECIFICITY.
RX PubMed=15899793; DOI=10.1158/0008-5472.can-04-3658;
RA Hsu S.-H., Hsieh-Li H.-M., Huang H.-Y., Huang P.-H., Li H.;
RT "bHLH-zip transcription factor Spz1 mediates mitogen-activated protein
RT kinase cell proliferation, transformation, and tumorigenesis.";
RL Cancer Res. 65:4041-4050(2005).
CC -!- FUNCTION: Transcription factor that binds to the DNA sequence 5'-
CC CANNTG-3'(E box) and the G-box motif. May play an important role in the
CC regulation of cell proliferation and differentiation during
CC spermatogenesis (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with PPP1CC isoform gamma-2. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BXG8; O60941: DTNB; NbExp=4; IntAct=EBI-8483734, EBI-740402;
CC Q9BXG8; O60941-5: DTNB; NbExp=5; IntAct=EBI-8483734, EBI-11984733;
CC Q9BXG8; O95714: HERC2; NbExp=2; IntAct=EBI-8483734, EBI-1058922;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Specifically and strongly expressed in the testis.
CC Expressed in several tumor cell lines. {ECO:0000269|PubMed:12778315,
CC ECO:0000269|PubMed:15899793}.
CC -!- PTM: Phosphorylated by MAPK1/ERK2 and MAPK3/ERK1. {ECO:0000250}.
CC -!- MISCELLANEOUS: The helix-loop-helix and basic motifs form a SPZ1
CC specific bHLH different from the classical one. {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC05340.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF333098; AAK17995.1; -; mRNA.
DR EMBL; AK098575; BAC05340.1; ALT_SEQ; mRNA.
DR EMBL; AK314007; BAG36718.1; -; mRNA.
DR EMBL; AC026410; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471084; EAW95848.1; -; Genomic_DNA.
DR EMBL; BC033798; AAH33798.1; -; mRNA.
DR CCDS; CCDS43336.1; -.
DR RefSeq; NP_115956.3; NM_032567.3.
DR AlphaFoldDB; Q9BXG8; -.
DR SMR; Q9BXG8; -.
DR BioGRID; 124175; 18.
DR IntAct; Q9BXG8; 17.
DR MINT; Q9BXG8; -.
DR STRING; 9606.ENSP00000369611; -.
DR iPTMnet; Q9BXG8; -.
DR PhosphoSitePlus; Q9BXG8; -.
DR BioMuta; SPZ1; -.
DR DMDM; 134035034; -.
DR EPD; Q9BXG8; -.
DR PaxDb; Q9BXG8; -.
DR PeptideAtlas; Q9BXG8; -.
DR PRIDE; Q9BXG8; -.
DR Antibodypedia; 44374; 118 antibodies from 24 providers.
DR DNASU; 84654; -.
DR Ensembl; ENST00000296739.6; ENSP00000369611.3; ENSG00000164299.7.
DR GeneID; 84654; -.
DR KEGG; hsa:84654; -.
DR MANE-Select; ENST00000296739.6; ENSP00000369611.3; NM_032567.4; NP_115956.3.
DR UCSC; uc003kgn.4; human.
DR CTD; 84654; -.
DR DisGeNET; 84654; -.
DR GeneCards; SPZ1; -.
DR HGNC; HGNC:30721; SPZ1.
DR HPA; ENSG00000164299; Tissue enriched (testis).
DR MIM; 618068; gene.
DR neXtProt; NX_Q9BXG8; -.
DR OpenTargets; ENSG00000164299; -.
DR PharmGKB; PA142670869; -.
DR VEuPathDB; HostDB:ENSG00000164299; -.
DR eggNOG; ENOG502QS87; Eukaryota.
DR GeneTree; ENSGT00950000182767; -.
DR HOGENOM; CLU_062447_0_0_1; -.
DR InParanoid; Q9BXG8; -.
DR OMA; FNIHVAR; -.
DR OrthoDB; 1269936at2759; -.
DR PhylomeDB; Q9BXG8; -.
DR TreeFam; TF337798; -.
DR PathwayCommons; Q9BXG8; -.
DR SignaLink; Q9BXG8; -.
DR BioGRID-ORCS; 84654; 8 hits in 1084 CRISPR screens.
DR GeneWiki; SPZ1; -.
DR GenomeRNAi; 84654; -.
DR Pharos; Q9BXG8; Tbio.
DR PRO; PR:Q9BXG8; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9BXG8; protein.
DR Bgee; ENSG00000164299; Expressed in sperm and 27 other tissues.
DR ExpressionAtlas; Q9BXG8; baseline and differential.
DR Genevisible; Q9BXG8; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IEA:InterPro.
DR InterPro; IPR042961; Spz1.
DR PANTHER; PTHR47889; PTHR47889; 2.
PE 1: Evidence at protein level;
KW Coiled coil; Cytoplasm; DNA-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..430
FT /note="Spermatogenic leucine zipper protein 1"
FT /id="PRO_0000280507"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 166..177
FT /note="Helix-loop-helix motif"
FT /evidence="ECO:0000255"
FT REGION 178..244
FT /note="Basic motif"
FT /evidence="ECO:0000255"
FT REGION 303..324
FT /note="Leucine-zipper"
FT COILED 62..102
FT /evidence="ECO:0000255"
FT COILED 214..269
FT /evidence="ECO:0000255"
FT COILED 316..351
FT /evidence="ECO:0000255"
FT COMPBIAS 1..21
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 107
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6AXY9"
FT MOD_RES 258
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6AXY9"
FT VARIANT 17
FT /note="V -> L (in dbSNP:rs1862136)"
FT /evidence="ECO:0000269|PubMed:12778315,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.4"
FT /id="VAR_031160"
FT VARIANT 302
FT /note="E -> K (in dbSNP:rs6867419)"
FT /id="VAR_031161"
FT CONFLICT 30
FT /note="P -> S (in Ref. 1; AAK17995)"
FT /evidence="ECO:0000305"
FT CONFLICT 301
FT /note="H -> P (in Ref. 1; AAK17995)"
FT /evidence="ECO:0000305"
FT CONFLICT 380
FT /note="K -> N (in Ref. 2; BAC05340)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 430 AA; 49445 MW; 9B2CD2B5C8F5FB43 CRC64;
MASSAKSAEM PTISKTVNPT PDPHQEYLDP RITIALFEIG SHSPSSWGSL PFLKNSSHQV
TEQQTAQKFN NLLKEIKDIL KNMAGFEEKI TEAKELFEET NITEDVSAHK ENIRGLDKIN
EMLSTNLPVS LAPEKEDNEK KQEMILETNI TEDVSAHKEN IRGLDKINEM LSTNLPVSLA
PEKEDNEKKQ QMIMENQNSE NTAQVFARDL VNRLEEKKVL NETQQSQEKA KNRLNVQEET
MKIRNNMEQL LQEAEHWSKQ HTELSKLIKS YQKSQKDISE TLGNNGVGFQ TQPNNEVSAK
HELEEQVKKL SHDTYSLQLM AALLENECQI LQQRVEILKE LHHQKQGTLQ EKPIQINYKQ
DKKNQKPSEA KKVEMYKQNK QAMKGTFWKK DRSCRSLDVC LNKKACNTQF NIHVARKALR
GKMRSASSLR