GTSFL_HUMAN
ID GTSFL_HUMAN Reviewed; 148 AA.
AC Q9H1H1; Q5JWH5;
DT 10-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Gametocyte-specific factor 1-like;
DE AltName: Full=Protein FAM112A;
GN Name=GTSF1L; Synonyms=C20orf65, FAM112A;
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 GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [2]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 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).
CC -!- INTERACTION:
CC Q9H1H1; O15499: GSC2; NbExp=3; IntAct=EBI-19128683, EBI-19954058;
CC Q9H1H1; Q9NRZ9-6: HELLS; NbExp=3; IntAct=EBI-19128683, EBI-12003732;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H1H1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H1H1-2; Sequence=VSP_047166;
CC -!- SIMILARITY: Belongs to the UPF0224 (FAM112) family.
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DR EMBL; AL121886; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75950.1; -; Genomic_DNA.
DR EMBL; BC040049; AAH40049.1; -; mRNA.
DR CCDS; CCDS13323.1; -. [Q9H1H1-1]
DR CCDS; CCDS33471.1; -. [Q9H1H1-2]
DR RefSeq; NP_001008901.1; NM_001008901.1. [Q9H1H1-2]
DR RefSeq; NP_789761.1; NM_176791.3. [Q9H1H1-1]
DR AlphaFoldDB; Q9H1H1; -.
DR SMR; Q9H1H1; -.
DR BioGRID; 127232; 9.
DR IntAct; Q9H1H1; 2.
DR STRING; 9606.ENSP00000362094; -.
DR BioMuta; GTSF1L; -.
DR DMDM; 27734253; -.
DR MassIVE; Q9H1H1; -.
DR PaxDb; Q9H1H1; -.
DR PeptideAtlas; Q9H1H1; -.
DR PRIDE; Q9H1H1; -.
DR ProteomicsDB; 63392; -.
DR ProteomicsDB; 80408; -. [Q9H1H1-1]
DR Antibodypedia; 51807; 16 antibodies from 8 providers.
DR DNASU; 149699; -.
DR Ensembl; ENST00000373003.2; ENSP00000362094.1; ENSG00000124196.6. [Q9H1H1-1]
DR Ensembl; ENST00000373005.2; ENSP00000362096.2; ENSG00000124196.6. [Q9H1H1-2]
DR GeneID; 149699; -.
DR KEGG; hsa:149699; -.
DR MANE-Select; ENST00000373003.2; ENSP00000362094.1; NM_176791.4; NP_789761.1.
DR UCSC; uc002xlc.4; human. [Q9H1H1-1]
DR CTD; 149699; -.
DR GeneCards; GTSF1L; -.
DR HGNC; HGNC:16198; GTSF1L.
DR HPA; ENSG00000124196; Tissue enriched (testis).
DR neXtProt; NX_Q9H1H1; -.
DR OpenTargets; ENSG00000124196; -.
DR PharmGKB; PA25775; -.
DR VEuPathDB; HostDB:ENSG00000124196; -.
DR eggNOG; KOG4376; Eukaryota.
DR GeneTree; ENSGT00940000163226; -.
DR HOGENOM; CLU_108762_1_0_1; -.
DR InParanoid; Q9H1H1; -.
DR OMA; PSPDIWN; -.
DR OrthoDB; 1359124at2759; -.
DR PhylomeDB; Q9H1H1; -.
DR TreeFam; TF323837; -.
DR PathwayCommons; Q9H1H1; -.
DR SignaLink; Q9H1H1; -.
DR BioGRID-ORCS; 149699; 7 hits in 1056 CRISPR screens.
DR GenomeRNAi; 149699; -.
DR Pharos; Q9H1H1; Tdark.
DR PRO; PR:Q9H1H1; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H1H1; protein.
DR Bgee; ENSG00000124196; Expressed in sperm and 100 other tissues.
DR Genevisible; Q9H1H1; HS.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR InterPro; IPR032842; GTSF1L.
DR InterPro; IPR022776; TRM13/UPF0224_CHHC_Znf_dom.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR PANTHER; PTHR21402:SF3; PTHR21402:SF3; 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 Alternative splicing; Metal-binding; Reference proteome; Repeat; Zinc;
KW Zinc-finger.
FT CHAIN 1..148
FT /note="Gametocyte-specific factor 1-like"
FT /id="PRO_0000221619"
FT ZN_FING 6..33
FT /note="CHHC U11-48K-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT ZN_FING 40..67
FT /note="CHHC U11-48K-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT REGION 67..99
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 78..99
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 9
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 15
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 25
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 29
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 43
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 49
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 59
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT BINDING 63
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01141"
FT VAR_SEQ 94..118
FT /note="Missing (in isoform 2)"
FT /id="VSP_047166"
FT VARIANT 56
FT /note="L -> V (in dbSNP:rs17826038)"
FT /id="VAR_052549"
SQ SEQUENCE 148 AA; 16872 MW; 2EFB2C0857875B99 CRC64;
MEPEAFEICP YDPHHRIPLS RFQYHLASCR RKNPKKAKKM ATCKYNACHV VPIKNLEEHE
AVCVNRSAVE EEDTENPLKV SPPSSEQNDD TQQVSPCLPS PDIWNVDGAN CQHVFVLKTF
FPQKVVCEND TKESARETSP QKILRPGQ
