LEMD1_HUMAN
ID LEMD1_HUMAN Reviewed; 181 AA.
AC Q68G75; Q6L9T9; Q6L9U0; Q6L9U1; Q6L9U2; Q6L9U3; Q6L9U4;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=LEM domain-containing protein 1;
DE AltName: Full=Cancer/testis antigen 50;
DE Short=CT50;
DE AltName: Full=LEM domain protein 1;
DE Short=LEMP-1;
GN Name=LEMD1;
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; 2; 3; 4; 5 AND 6), TISSUE
RP SPECIFICITY, AND SUBCELLULAR LOCATION.
RC TISSUE=Testis;
RX PubMed=15254688;
RA Yuki D., Lin Y.M., Fujii Y., Nakamura Y., Furukawa Y.;
RT "Isolation of LEM domain-containing 1, a novel testis-specific gene
RT expressed in colorectal cancers.";
RL Oncol. Rep. 12:275-280(2004).
RN [2]
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 -!- INTERACTION:
CC Q68G75; Q13520: AQP6; NbExp=3; IntAct=EBI-12268900, EBI-13059134;
CC Q68G75; P62952: BLCAP; NbExp=3; IntAct=EBI-12268900, EBI-3895726;
CC Q68G75; Q15125: EBP; NbExp=3; IntAct=EBI-12268900, EBI-3915253;
CC Q68G75; Q96PL5: ERMAP; NbExp=3; IntAct=EBI-12268900, EBI-13361852;
CC Q68G75; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-12268900, EBI-10266796;
CC Q68G75; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12268900, EBI-16439278;
CC Q68G75; O14880: MGST3; NbExp=3; IntAct=EBI-12268900, EBI-724754;
CC Q68G75; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-12268900, EBI-7545592;
CC Q68G75; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-12268900, EBI-10192441;
CC Q68G75; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-12268900, EBI-17247926;
CC Q68G75; O60669: SLC16A7; NbExp=3; IntAct=EBI-12268900, EBI-3921243;
CC Q68G75; Q6ZT21: TMPPE; NbExp=3; IntAct=EBI-12268900, EBI-11724433;
CC Q68G75; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-12268900, EBI-12837904;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=LEMD1A;
CC IsoId=Q68G75-1; Sequence=Displayed;
CC Name=2; Synonyms=LEMD1B;
CC IsoId=Q68G75-2; Sequence=VSP_024848, VSP_024849;
CC Name=3; Synonyms=LEMD1C;
CC IsoId=Q68G75-3; Sequence=VSP_024846;
CC Name=4; Synonyms=LEMD1D;
CC IsoId=Q68G75-4; Sequence=VSP_024852, VSP_024853;
CC Name=5; Synonyms=LEMD1E;
CC IsoId=Q68G75-5; Sequence=VSP_024851, VSP_024854;
CC Name=6; Synonyms=LEMD1F;
CC IsoId=Q68G75-6; Sequence=VSP_024847, VSP_024850;
CC -!- TISSUE SPECIFICITY: Testis-specific. Isoform 6 is detected in 17 of 18
CC colon cancer tissues examined. {ECO:0000269|PubMed:15254688}.
CC -!- MISCELLANEOUS: [Isoform 6]: Found at the nuclear membrane.
CC {ECO:0000305}.
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DR EMBL; AB084764; BAD20779.1; -; mRNA.
DR EMBL; AB084765; BAD20780.1; -; mRNA.
DR EMBL; AB085610; BAD20781.1; -; mRNA.
DR EMBL; AB096677; BAD20782.1; -; mRNA.
DR EMBL; AB096678; BAD20783.1; -; mRNA.
DR EMBL; AB096679; BAD20784.1; -; mRNA.
DR EMBL; AB096680; BAD20785.1; -; mRNA.
DR EMBL; AB096681; BAD20786.1; -; mRNA.
DR EMBL; AB096682; BAD20787.1; -; mRNA.
DR EMBL; BC036636; AAH36636.1; -; mRNA.
DR CCDS; CCDS30986.1; -. [Q68G75-5]
DR CCDS; CCDS55677.1; -. [Q68G75-6]
DR CCDS; CCDS55678.1; -. [Q68G75-3]
DR CCDS; CCDS55679.1; -. [Q68G75-1]
DR RefSeq; NP_001001552.3; NM_001001552.4. [Q68G75-5]
DR RefSeq; NP_001185979.1; NM_001199050.1. [Q68G75-1]
DR RefSeq; NP_001185980.1; NM_001199051.1. [Q68G75-3]
DR RefSeq; NP_001185981.1; NM_001199052.1. [Q68G75-6]
DR AlphaFoldDB; Q68G75; -.
DR SMR; Q68G75; -.
DR BioGRID; 125016; 14.
DR IntAct; Q68G75; 14.
DR STRING; 9606.ENSP00000356121; -.
DR iPTMnet; Q68G75; -.
DR PhosphoSitePlus; Q68G75; -.
DR BioMuta; LEMD1; -.
DR DMDM; 146324968; -.
DR MassIVE; Q68G75; -.
DR PaxDb; Q68G75; -.
DR PeptideAtlas; Q68G75; -.
DR PRIDE; Q68G75; -.
DR ProteomicsDB; 66140; -. [Q68G75-1]
DR ProteomicsDB; 66141; -. [Q68G75-2]
DR ProteomicsDB; 66142; -. [Q68G75-3]
DR ProteomicsDB; 66143; -. [Q68G75-4]
DR ProteomicsDB; 66144; -. [Q68G75-5]
DR ProteomicsDB; 66145; -. [Q68G75-6]
DR Antibodypedia; 51435; 38 antibodies from 15 providers.
DR DNASU; 93273; -.
DR Ensembl; ENST00000367149.6; ENSP00000356117.3; ENSG00000186007.10. [Q68G75-6]
DR Ensembl; ENST00000367151.4; ENSP00000356119.3; ENSG00000186007.10. [Q68G75-1]
DR Ensembl; ENST00000367152.5; ENSP00000356120.1; ENSG00000186007.10. [Q68G75-3]
DR Ensembl; ENST00000367153.9; ENSP00000356121.4; ENSG00000186007.10. [Q68G75-1]
DR Ensembl; ENST00000367154.5; ENSP00000356122.1; ENSG00000186007.10. [Q68G75-5]
DR Ensembl; ENST00000391936.6; ENSP00000375801.2; ENSG00000186007.10. [Q68G75-5]
DR Ensembl; ENST00000495594.2; ENSP00000479306.1; ENSG00000186007.10. [Q68G75-6]
DR GeneID; 93273; -.
DR KEGG; hsa:93273; -.
DR MANE-Select; ENST00000367153.9; ENSP00000356121.4; NM_001199050.2; NP_001185979.1.
DR UCSC; uc001hcj.4; human. [Q68G75-1]
DR CTD; 93273; -.
DR DisGeNET; 93273; -.
DR GeneCards; LEMD1; -.
DR HGNC; HGNC:18725; LEMD1.
DR HPA; ENSG00000186007; Group enriched (epididymis, testis).
DR MIM; 610480; gene.
DR neXtProt; NX_Q68G75; -.
DR OpenTargets; ENSG00000186007; -.
DR PharmGKB; PA38660; -.
DR VEuPathDB; HostDB:ENSG00000186007; -.
DR eggNOG; ENOG502QWCI; Eukaryota.
DR GeneTree; ENSGT00940000154098; -.
DR HOGENOM; CLU_1577960_0_0_1; -.
DR InParanoid; Q68G75; -.
DR OMA; RETDYCP; -.
DR OrthoDB; 815019at2759; -.
DR PhylomeDB; Q68G75; -.
DR TreeFam; TF340652; -.
DR PathwayCommons; Q68G75; -.
DR SignaLink; Q68G75; -.
DR BioGRID-ORCS; 93273; 11 hits in 1060 CRISPR screens.
DR ChiTaRS; LEMD1; human.
DR GenomeRNAi; 93273; -.
DR Pharos; Q68G75; Tbio.
DR PRO; PR:Q68G75; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q68G75; protein.
DR Bgee; ENSG00000186007; Expressed in left testis and 115 other tissues.
DR Genevisible; Q68G75; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 1.10.720.40; -; 1.
DR InterPro; IPR011015; LEM/LEM-like_dom_sf.
DR InterPro; IPR003887; LEM_dom.
DR Pfam; PF03020; LEM; 1.
DR SMART; SM00540; LEM; 1.
DR SUPFAM; SSF63451; SSF63451; 1.
DR PROSITE; PS50954; LEM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Signal-anchor;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..181
FT /note="LEM domain-containing protein 1"
FT /id="PRO_0000285247"
FT TRANSMEM 152..172
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT DOMAIN 1..45
FT /note="LEM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00313"
FT VAR_SEQ 28..69
FT /note="PSTRKLYEKKLVQLLVSPPCAPPVMNGPRELDGAQDSDDSEE -> Q (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024846"
FT VAR_SEQ 28..67
FT /note="PSTRKLYEKKLVQLLVSPPCAPPVMNGPRELDGAQDSDDS -> RGLQEHQA
FT PESHMGLSPKRETTARKTRLSRAGEKKVSQWA (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024847"
FT VAR_SEQ 28..29
FT /note="PS -> LA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024848"
FT VAR_SEQ 30..181
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024849"
FT VAR_SEQ 68..181
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024850"
FT VAR_SEQ 69..108
FT /note="ELNIILQGNIILSTEKSKKLKKWPEASTTKRKAVDTYCLD -> GGLQEHQA
FT PESHMGLSPKRETTARKTRLSRAGEKKVSQWA (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024851"
FT VAR_SEQ 69..70
FT /note="EL -> VA (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024852"
FT VAR_SEQ 71..181
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024853"
FT VAR_SEQ 109..181
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15254688"
FT /id="VSP_024854"
FT VARIANT 25
FT /note="P -> S (in dbSNP:rs7531012)"
FT /id="VAR_031999"
FT CONFLICT 83
FT /note="E -> K (in Ref. 2; AAH36636)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 181 AA; 20326 MW; 859BAE60215EECED CRC64;
MVDVKCLSDC KLQNQLEKLG FSPGPILPST RKLYEKKLVQ LLVSPPCAPP VMNGPRELDG
AQDSDDSEEL NIILQGNIIL STEKSKKLKK WPEASTTKRK AVDTYCLDYK PSKGRRWAAR
APSTRITYGT ITKERDYCAE DQTIESWREE GFPVGLKLAV LGIFIIVVFV YLTVENKSLF
G
