LKAM1_HUMAN
ID LKAM1_HUMAN Reviewed; 194 AA.
AC Q8TD35; Q8N419; Q8TD36;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 3.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Protein LKAAEAR1;
DE AltName: Full=LKAAEAR motif-containing protein 1;
GN Name=LKAAEAR1; Synonyms=C20orf201;
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 VARIANT ASP-85.
RX PubMed=26721930; DOI=10.1093/hmg/ddv617;
RA Escoffier J., Lee H.C., Yassine S., Zouari R., Martinez G., Karaouzene T.,
RA Coutton C., Kherraf Z.E., Halouani L., Triki C., Nef S., Thierry-Mieg N.,
RA Savinov S.N., Fissore R., Ray P.F., Arnoult C.;
RT "Homozygous mutation of PLCZ1 leads to defective human oocyte activation
RT and infertility that is not rescued by the WW-binding protein PAWP.";
RL Hum. Mol. Genet. 25:878-891(2016).
CC -!- INTERACTION:
CC Q8TD35-2; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-12159375, EBI-3044087;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TD35-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TD35-2; Sequence=VSP_032961;
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DR EMBL; AL590548; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75164.1; -; Genomic_DNA.
DR EMBL; BC036837; AAH36837.1; -; mRNA.
DR CCDS; CCDS33509.1; -. [Q8TD35-2]
DR CCDS; CCDS86972.1; -. [Q8TD35-1]
DR RefSeq; NP_001007126.1; NM_001007125.1. [Q8TD35-2]
DR RefSeq; XP_005260257.3; XM_005260200.3. [Q8TD35-1]
DR AlphaFoldDB; Q8TD35; -.
DR BioGRID; 128258; 1.
DR IntAct; Q8TD35; 1.
DR STRING; 9606.ENSP00000310801; -.
DR iPTMnet; Q8TD35; -.
DR PhosphoSitePlus; Q8TD35; -.
DR BioMuta; LKAAEAR1; -.
DR DMDM; 182705223; -.
DR MassIVE; Q8TD35; -.
DR PaxDb; Q8TD35; -.
DR PeptideAtlas; Q8TD35; -.
DR PRIDE; Q8TD35; -.
DR ProteomicsDB; 74231; -. [Q8TD35-1]
DR ProteomicsDB; 74232; -. [Q8TD35-2]
DR Antibodypedia; 44636; 72 antibodies from 12 providers.
DR DNASU; 198437; -.
DR Ensembl; ENST00000302096.5; ENSP00000302763.4; ENSG00000171695.11. [Q8TD35-1]
DR Ensembl; ENST00000308906.6; ENSP00000310801.2; ENSG00000171695.11. [Q8TD35-2]
DR GeneID; 198437; -.
DR KEGG; hsa:198437; -.
DR MANE-Select; ENST00000302096.5; ENSP00000302763.4; NM_001353425.2; NP_001340354.1.
DR UCSC; uc002yie.1; human. [Q8TD35-1]
DR CTD; 198437; -.
DR DisGeNET; 198437; -.
DR GeneCards; LKAAEAR1; -.
DR HGNC; HGNC:33718; LKAAEAR1.
DR HPA; ENSG00000171695; Tissue enriched (testis).
DR neXtProt; NX_Q8TD35; -.
DR OpenTargets; ENSG00000171695; -.
DR PharmGKB; PA162378956; -.
DR VEuPathDB; HostDB:ENSG00000171695; -.
DR eggNOG; ENOG502S5XG; Eukaryota.
DR GeneTree; ENSGT00390000009883; -.
DR HOGENOM; CLU_092463_1_0_1; -.
DR InParanoid; Q8TD35; -.
DR OMA; ERGWQHL; -.
DR PhylomeDB; Q8TD35; -.
DR TreeFam; TF337699; -.
DR PathwayCommons; Q8TD35; -.
DR SignaLink; Q8TD35; -.
DR BioGRID-ORCS; 198437; 15 hits in 1042 CRISPR screens.
DR GenomeRNAi; 198437; -.
DR Pharos; Q8TD35; Tdark.
DR PRO; PR:Q8TD35; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8TD35; protein.
DR Bgee; ENSG00000171695; Expressed in right testis and 84 other tissues.
DR Genevisible; Q8TD35; HS.
DR InterPro; IPR029152; LKAAEAR1.
DR PANTHER; PTHR35665; PTHR35665; 1.
DR Pfam; PF15478; LKAAEAR; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..194
FT /note="Protein LKAAEAR1"
FT /id="PRO_0000329279"
FT REGION 1..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 176..194
FT /note="RRRVETILEENVDGTIFPR -> VQTSPGRGGERGGALPASAHAGPQPLSPA
FT AEARGDHPGGERGWHHLPAVTATESVRRAPASHIKL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032961"
FT VARIANT 9
FT /note="G -> W (in dbSNP:rs4431000)"
FT /id="VAR_042651"
FT VARIANT 85
FT /note="E -> D (in dbSNP:rs77021907)"
FT /evidence="ECO:0000269|PubMed:26721930"
FT /id="VAR_077877"
SQ SEQUENCE 194 AA; 21508 MW; C4759525DD6F377C CRC64;
MPPPAKEGGR KGPRERSGKS APGTAQGEER AKGAPATEPP KPGWALTPQG LAAMLPAQRH
RHLLFGDLLE DVGAAASTFP CGSVEPGYRM PDPRPWTQSL ELPAERQNRL LGVLKAAEAR
GRVRALRLRY TRMRAEEIAL LIQRQKSARA AIRLELFLPP QLKPARIPDP LDRQERRRVE
TILEENVDGT IFPR