GTSF1_HUMAN
ID GTSF1_HUMAN Reviewed; 167 AA.
AC Q8WW33; B3KQ60; Q0VGM4; Q8N778;
DT 10-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Gametocyte-specific factor 1;
DE AltName: Full=Protein FAM112B;
GN Name=GTSF1; Synonyms=FAM112B;
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP DOMAIN CHHC ZINC-FINGER.
RX PubMed=18703587; DOI=10.1093/bioinformatics/btn431;
RA Andreeva A., Tidow H.;
RT "A novel CHHC Zn-finger domain found in spliceosomal proteins and tRNA
RT modifying enzymes.";
RL Bioinformatics 24:2277-2280(2008).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Required for spermatogenesis and is involved in the
CC suppression of retrotransposon transcription in male germ cells.
CC {ECO:0000250|UniProtKB:Q9DAN6}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9DAN6}.
CC -!- SIMILARITY: Belongs to the UPF0224 (FAM112) family. {ECO:0000305}.
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DR EMBL; AK057504; BAG51922.1; -; mRNA.
DR EMBL; AK098819; BAC05423.1; -; mRNA.
DR EMBL; BC021179; AAH21179.1; -; mRNA.
DR EMBL; BC105587; AAI05588.1; -; mRNA.
DR CCDS; CCDS8881.1; -.
DR RefSeq; NP_653195.2; NM_144594.2.
DR RefSeq; XP_016874289.1; XM_017018800.1.
DR AlphaFoldDB; Q8WW33; -.
DR SMR; Q8WW33; -.
DR BioGRID; 125724; 13.
DR IntAct; Q8WW33; 5.
DR STRING; 9606.ENSP00000446485; -.
DR GlyGen; Q8WW33; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q8WW33; -.
DR PhosphoSitePlus; Q8WW33; -.
DR SwissPalm; Q8WW33; -.
DR BioMuta; GTSF1; -.
DR DMDM; 116241359; -.
DR EPD; Q8WW33; -.
DR jPOST; Q8WW33; -.
DR MassIVE; Q8WW33; -.
DR MaxQB; Q8WW33; -.
DR PaxDb; Q8WW33; -.
DR PeptideAtlas; Q8WW33; -.
DR PRIDE; Q8WW33; -.
DR ProteomicsDB; 74854; -.
DR Antibodypedia; 48366; 99 antibodies from 17 providers.
DR DNASU; 121355; -.
DR Ensembl; ENST00000305879.8; ENSP00000304185.5; ENSG00000170627.11.
DR Ensembl; ENST00000552397.5; ENSP00000446485.1; ENSG00000170627.11.
DR GeneID; 121355; -.
DR KEGG; hsa:121355; -.
DR MANE-Select; ENST00000305879.8; ENSP00000304185.5; NM_144594.3; NP_653195.2.
DR UCSC; uc001sgb.4; human.
DR CTD; 121355; -.
DR DisGeNET; 121355; -.
DR GeneCards; GTSF1; -.
DR HGNC; HGNC:26565; GTSF1.
DR HPA; ENSG00000170627; Tissue enriched (testis).
DR MIM; 617484; gene.
DR neXtProt; NX_Q8WW33; -.
DR OpenTargets; ENSG00000170627; -.
DR PharmGKB; PA162390507; -.
DR VEuPathDB; HostDB:ENSG00000170627; -.
DR eggNOG; KOG4376; Eukaryota.
DR GeneTree; ENSGT00940000156784; -.
DR HOGENOM; CLU_108762_0_0_1; -.
DR InParanoid; Q8WW33; -.
DR OMA; TANFCGN; -.
DR OrthoDB; 1359124at2759; -.
DR PhylomeDB; Q8WW33; -.
DR TreeFam; TF323837; -.
DR PathwayCommons; Q8WW33; -.
DR SignaLink; Q8WW33; -.
DR BioGRID-ORCS; 121355; 8 hits in 1076 CRISPR screens.
DR GenomeRNAi; 121355; -.
DR Pharos; Q8WW33; Tbio.
DR PRO; PR:Q8WW33; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8WW33; protein.
DR Bgee; ENSG00000170627; Expressed in sperm and 110 other tissues.
DR ExpressionAtlas; Q8WW33; baseline and differential.
DR Genevisible; Q8WW33; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR007917; GTSF1_vertebrate.
DR InterPro; IPR022776; TRM13/UPF0224_CHHC_Znf_dom.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR PANTHER; PTHR21402:SF9; PTHR21402:SF9; 1.
DR Pfam; PF05253; zf-U11-48K; 2.
DR SUPFAM; SSF57667; SSF57667; 1.
DR PROSITE; PS51800; ZF_CHHC_U11_48K; 2.
PE 1: Evidence at protein level;
KW Cytoplasm; Differentiation; Metal-binding; Phosphoprotein;
KW Reference proteome; Repeat; Spermatogenesis; Zinc; Zinc-finger.
FT CHAIN 1..167
FT /note="Gametocyte-specific factor 1"
FT /id="PRO_0000221621"
FT ZN_FING 14..41
FT /note="CHHC U11-48K-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT ZN_FING 48..75
FT /note="CHHC U11-48K-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 17
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 23
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 33
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 37
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 51
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 57
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 67
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 71
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT MOD_RES 8
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CONFLICT 120
FT /note="V -> A (in Ref. 2; AAH21179)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 167 AA; 19266 MW; 00C39EF69263F495 CRC64;
MEETYTDSLD PEKLLQCPYD KNHQIRACRF PYHLIKCRKN HPDVASKLAT CPFNARHQVP
RAEISHHISS CDDRSCIEQD VVNQTRSLRQ ETLAESTWQC PPCDEDWDKD LWEQTSTPFV
WGTTHYSDNN SPASNIVTEH KNNLASGMRV PKSLPYVLPW KNNGNAQ
