LCFC1_HUMAN
ID LCFC1_HUMAN Reviewed; 122 AA.
AC Q96L11; A0A0G2JPS5; A0A0S2Z637; A4D2H8; C9JTW1; Q8TDV6;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Sperm-egg fusion protein LLCFC1 {ECO:0000305};
DE AltName: Full=LLLL and CFNLAS motif-containing protein 1 {ECO:0000312|HGNC:HGNC:21750};
DE AltName: Full=MSSP-binding protein CTM-1 {ECO:0000303|Ref.1};
DE AltName: Full=Sperm-oocyte fusion required protein 1 {ECO:0000250|UniProtKB:Q9D9P8};
DE Flags: Precursor;
GN Name=LLCFC1 {ECO:0000312|HGNC:HGNC:21750};
GN Synonyms=C7orf34, SOF1 {ECO:0000250|UniProtKB:Q9D9P8};
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] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
RA Ariga H.;
RT "CTM-1, a novel MSSP-binding protein.";
RL Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RX PubMed=26871637; DOI=10.1016/j.cell.2016.01.029;
RA Yang X., Coulombe-Huntington J., Kang S., Sheynkman G.M., Hao T.,
RA Richardson A., Sun S., Yang F., Shen Y.A., Murray R., Spirohn K.,
RA Begg B.E., Duran-Frigola M., MacWilliams A., Pevzner S.J., Zhong Q.,
RA Trigg S.A., Tam S., Ghamsari L., Sahni N., Yi S., Rodriguez M.D.,
RA Balcha D., Tan G., Costanzo M., Andrews B., Boone C., Zhou X.J.,
RA Salehi-Ashtiani K., Charloteaux B., Chen A., Calderwood M.A., Aloy P.,
RA Roth F.P., Hill D.E., Iakoucheva L.M., Xia Y., Vidal M.;
RT "Widespread Expansion of Protein Interaction Capabilities by Alternative
RT Splicing.";
RL Cell 164:805-817(2016).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
CC -!- FUNCTION: Sperm protein required for fusion of sperm with the egg
CC membrane during fertilization. {ECO:0000250|UniProtKB:Q9D9P8}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=CTM-1beta;
CC IsoId=Q96L11-1; Sequence=Displayed;
CC Name=2; Synonyms=CTM-1alpha;
CC IsoId=Q96L11-2; Sequence=VSP_014743, VSP_014744;
CC Name=3;
CC IsoId=Q96L11-3; Sequence=VSP_059617;
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DR EMBL; AB083483; BAB88941.1; -; mRNA.
DR EMBL; AB083484; BAB88942.1; -; mRNA.
DR EMBL; KU178863; ALQ34321.1; -; mRNA.
DR EMBL; AC099652; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC245136; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236959; EAL23778.1; -; Genomic_DNA.
DR EMBL; CH471198; EAW51894.1; -; Genomic_DNA.
DR EMBL; BC014596; AAH14596.1; -; mRNA.
DR CCDS; CCDS5876.2; -. [Q96L11-1]
DR RefSeq; NP_849151.2; NM_178829.4.
DR AlphaFoldDB; Q96L11; -.
DR BioGRID; 126438; 159.
DR IntAct; Q96L11; 1.
DR STRING; 9606.ENSP00000386450; -.
DR BioMuta; LLCFC1; -.
DR PaxDb; Q96L11; -.
DR PeptideAtlas; Q96L11; -.
DR PRIDE; Q96L11; -.
DR Antibodypedia; 50550; 58 antibodies from 8 providers.
DR DNASU; 135927; -.
DR Ensembl; ENST00000409607.5; ENSP00000386450.4; ENSG00000165131.8. [Q96L11-1]
DR Ensembl; ENST00000617608.2; ENSP00000484165.1; ENSG00000275821.2. [Q96L11-3]
DR GeneID; 135927; -.
DR MANE-Select; ENST00000409607.5; ENSP00000386450.4; NM_001382496.1; NP_001369425.1.
DR UCSC; uc003wca.3; human. [Q96L11-1]
DR CTD; 135927; -.
DR GeneCards; LLCFC1; -.
DR HGNC; HGNC:21750; LLCFC1.
DR HPA; ENSG00000165131; Tissue enriched (testis).
DR MIM; 618946; gene.
DR neXtProt; NX_Q96L11; -.
DR OpenTargets; ENSG00000165131; -.
DR PharmGKB; PA134972511; -.
DR VEuPathDB; HostDB:ENSG00000165131; -.
DR eggNOG; ENOG502SF8S; Eukaryota.
DR GeneTree; ENSGT00390000018785; -.
DR HOGENOM; CLU_1730804_0_0_1; -.
DR InParanoid; Q96L11; -.
DR OMA; LNIHLCF; -.
DR OrthoDB; 1571373at2759; -.
DR PhylomeDB; Q96L11; -.
DR TreeFam; TF338373; -.
DR PathwayCommons; Q96L11; -.
DR SignaLink; Q96L11; -.
DR BioGRID-ORCS; 135927; 51 hits in 1053 CRISPR screens.
DR GenomeRNAi; 135927; -.
DR Pharos; Q96L11; Tdark.
DR PRO; PR:Q96L11; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q96L11; protein.
DR Bgee; ENSG00000165131; Expressed in left testis and 82 other tissues.
DR ExpressionAtlas; Q96L11; baseline and differential.
DR Genevisible; Q96L11; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0007342; P:fusion of sperm to egg plasma membrane involved in single fertilization; ISS:UniProtKB.
DR InterPro; IPR031684; LLCFC1.
DR PANTHER; PTHR37348; PTHR37348; 1.
DR Pfam; PF15838; LLCFC1; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Fertilization; Reference proteome; Secreted; Signal.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..122
FT /note="Sperm-egg fusion protein LLCFC1"
FT /id="PRO_0000019546"
FT REGION 27..51
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 31..51
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MGQEVHGSCWALGAGGGQRQWVGRSM (in isoform 3)"
FT /id="VSP_059617"
FT VAR_SEQ 45..46
FT /note="DQ -> GS (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_014743"
FT VAR_SEQ 47..122
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_014744"
SQ SEQUENCE 122 AA; 13527 MW; 460E99776D0F4C8F CRC64;
MPPLAPQLCR AVFLVPILLL LQVKPLNGSP GPKDGSQTEK TPSADQNQEQ FEEHFVASSV
GEMWQVVDMA QQEEDQSSKT AAVHKHSFHL SFCFSLASVM VFSGGPLRRT FPNIQLCFML
TH
