LINES_HUMAN
ID LINES_HUMAN Reviewed; 757 AA.
AC Q8NG48; Q96FW2; Q9NVQ3;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Protein Lines homolog 1 {ECO:0000312|HGNC:HGNC:30922};
DE AltName: Full=Wnt-signaling molecule Lines homolog 1 {ECO:0000305};
GN Name=LINS1 {ECO:0000312|HGNC:HGNC:30922};
GN Synonyms=LINS {ECO:0000305}, WINS1 {ECO:0000312|HGNC:HGNC:30922};
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] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANT
RP MET-406.
RX PubMed=12119551;
RA Katoh M.;
RT "Molecular cloning and characterization of human WINS1 and mouse Wins2,
RT homologous to Drosophila segment polarity gene Lines (Lin).";
RL Int. J. Mol. Med. 10:155-159(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANTS
RP VAL-29 AND MET-406.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP INVOLVEMENT IN MRT27.
RX PubMed=21937992; DOI=10.1038/nature10423;
RA Najmabadi H., Hu H., Garshasbi M., Zemojtel T., Abedini S.S., Chen W.,
RA Hosseini M., Behjati F., Haas S., Jamali P., Zecha A., Mohseni M.,
RA Puettmann L., Vahid L.N., Jensen C., Moheb L.A., Bienek M., Larti F.,
RA Mueller I., Weissmann R., Darvish H., Wrogemann K., Hadavi V.,
RA Lipkowitz B., Esmaeeli-Nieh S., Wieczorek D., Kariminejad R.,
RA Firouzabadi S.G., Cohen M., Fattahi Z., Rost I., Mojahedi F., Hertzberg C.,
RA Dehghan A., Rajab A., Banavandi M.J., Hoffer J., Falah M., Musante L.,
RA Kalscheuer V., Ullmann R., Kuss A.W., Tzschach A., Kahrizi K., Ropers H.H.;
RT "Deep sequencing reveals 50 novel genes for recessive cognitive
RT disorders.";
RL Nature 478:57-63(2011).
RN [5]
RP INVOLVEMENT IN MRT27.
RX PubMed=23773660; DOI=10.1186/1750-1172-8-87;
RA Akawi N.A., Al-Jasmi F., Al-Shamsi A.M., Ali B.R., Al-Gazali L.;
RT "LINS, a modulator of the WNT signaling pathway, is involved in human
RT cognition.";
RL Orphanet J. Rare Dis. 8:87-87(2013).
RN [6]
RP VARIANT MRT27 LYS-313.
RX PubMed=28181389; DOI=10.1002/ajmg.a.38089;
RA Sheth J., Ranjan G., Shah K., Bhavsar R., Sheth F.;
RT "Novel LINS1 missense mutation in a family with non-syndromic intellectual
RT disability.";
RL Am. J. Med. Genet. A 173:1041-1046(2017).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8NG48-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NG48-2; Sequence=VSP_031142, VSP_031145;
CC Name=3;
CC IsoId=Q8NG48-3; Sequence=VSP_031143, VSP_031144;
CC -!- TISSUE SPECIFICITY: Expressed in adult testis, prostate, prostate,
CC spleen, thymus, skeletal muscle, fetal kidney and brain.
CC {ECO:0000269|PubMed:12119551}.
CC -!- DISEASE: Intellectual developmental disorder, autosomal recessive 27
CC (MRT27) [MIM:614340]: A disorder characterized by significantly below
CC average general intellectual functioning associated with impairments in
CC adaptive behavior and manifested during the developmental period.
CC {ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:23773660,
CC ECO:0000269|PubMed:28181389}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the protein lines family. {ECO:0000305}.
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DR EMBL; AB083157; BAB93864.1; -; mRNA.
DR EMBL; AK001445; BAA91696.1; -; mRNA.
DR EMBL; AK292972; BAF85661.1; -; mRNA.
DR EMBL; AC027020; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090695; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS10385.1; -. [Q8NG48-1]
DR RefSeq; NP_001035706.1; NM_001040616.2. [Q8NG48-1]
DR RefSeq; XP_005254998.1; XM_005254941.1. [Q8NG48-1]
DR AlphaFoldDB; Q8NG48; -.
DR BioGRID; 120479; 9.
DR IntAct; Q8NG48; 2.
DR STRING; 9606.ENSP00000318423; -.
DR iPTMnet; Q8NG48; -.
DR PhosphoSitePlus; Q8NG48; -.
DR BioMuta; LINS1; -.
DR DMDM; 317373380; -.
DR EPD; Q8NG48; -.
DR jPOST; Q8NG48; -.
DR MassIVE; Q8NG48; -.
DR MaxQB; Q8NG48; -.
DR PaxDb; Q8NG48; -.
DR PeptideAtlas; Q8NG48; -.
DR PRIDE; Q8NG48; -.
DR ProteomicsDB; 73423; -. [Q8NG48-1]
DR ProteomicsDB; 73424; -. [Q8NG48-2]
DR ProteomicsDB; 73425; -. [Q8NG48-3]
DR Antibodypedia; 51579; 76 antibodies from 15 providers.
DR DNASU; 55180; -.
DR Ensembl; ENST00000314742.13; ENSP00000318423.8; ENSG00000140471.17. [Q8NG48-1]
DR Ensembl; ENST00000561308.5; ENSP00000454200.1; ENSG00000140471.17. [Q8NG48-2]
DR GeneID; 55180; -.
DR KEGG; hsa:55180; -.
DR MANE-Select; ENST00000314742.13; ENSP00000318423.8; NM_001040616.3; NP_001035706.2.
DR UCSC; uc002bwg.4; human. [Q8NG48-1]
DR CTD; 55180; -.
DR DisGeNET; 55180; -.
DR GeneCards; LINS1; -.
DR HGNC; HGNC:30922; LINS1.
DR HPA; ENSG00000140471; Low tissue specificity.
DR MalaCards; LINS1; -.
DR MIM; 610350; gene.
DR MIM; 614340; phenotype.
DR neXtProt; NX_Q8NG48; -.
DR OpenTargets; ENSG00000140471; -.
DR Orphanet; 88616; Autosomal recessive non-syndromic intellectual disability.
DR PharmGKB; PA142671544; -.
DR VEuPathDB; HostDB:ENSG00000140471; -.
DR eggNOG; ENOG502QT6F; Eukaryota.
DR GeneTree; ENSGT00390000001790; -.
DR HOGENOM; CLU_026992_0_0_1; -.
DR InParanoid; Q8NG48; -.
DR OMA; YRIVKCF; -.
DR OrthoDB; 222835at2759; -.
DR PhylomeDB; Q8NG48; -.
DR TreeFam; TF332955; -.
DR PathwayCommons; Q8NG48; -.
DR SignaLink; Q8NG48; -.
DR BioGRID-ORCS; 55180; 22 hits in 1071 CRISPR screens.
DR ChiTaRS; LINS1; human.
DR GenomeRNAi; 55180; -.
DR Pharos; Q8NG48; Tbio.
DR PRO; PR:Q8NG48; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8NG48; protein.
DR Bgee; ENSG00000140471; Expressed in epithelium of nasopharynx and 172 other tissues.
DR ExpressionAtlas; Q8NG48; baseline and differential.
DR Genevisible; Q8NG48; HS.
DR GO; GO:0050890; P:cognition; IMP:HGNC.
DR InterPro; IPR029415; Lines_C.
DR InterPro; IPR032794; LINES_N.
DR InterPro; IPR024875; Protein_Lines.
DR PANTHER; PTHR16057; PTHR16057; 1.
DR Pfam; PF14695; LINES_C; 1.
DR Pfam; PF14694; LINES_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Intellectual disability;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..757
FT /note="Protein Lines homolog 1"
FT /id="PRO_0000317749"
FT MOD_RES 635
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3U1D0"
FT VAR_SEQ 408..436
FT /note="VDLQRFMSELLTFLKPHLQPSLQLHNPCK -> GNSPNSFCMQCVIIYLSTV
FT IHNYQISGLV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031142"
FT VAR_SEQ 408..409
FT /note="VD -> GA (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031143"
FT VAR_SEQ 410..757
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031144"
FT VAR_SEQ 437..757
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_031145"
FT VARIANT 29
FT /note="I -> V (in dbSNP:rs11247226)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038668"
FT VARIANT 313
FT /note="E -> K (in MRT27; unknown pathological significance;
FT dbSNP:rs1057519019)"
FT /evidence="ECO:0000269|PubMed:28181389"
FT /id="VAR_078341"
FT VARIANT 331
FT /note="A -> V (in dbSNP:rs34967129)"
FT /id="VAR_038669"
FT VARIANT 406
FT /note="V -> M (in dbSNP:rs12719734)"
FT /evidence="ECO:0000269|PubMed:12119551,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_038670"
FT VARIANT 472
FT /note="S -> T (in dbSNP:rs2411837)"
FT /id="VAR_038671"
FT VARIANT 541
FT /note="I -> V (in dbSNP:rs12915007)"
FT /id="VAR_038672"
FT VARIANT 641
FT /note="E -> D (in dbSNP:rs12157)"
FT /id="VAR_038673"
FT VARIANT 680
FT /note="R -> S (in dbSNP:rs8451)"
FT /id="VAR_038674"
SQ SEQUENCE 757 AA; 85857 MW; 95A40879A494BB8F CRC64;
MKVFCEVLEE LYKKVLLGAT LENDSHDYIF YLNPAVSDQD CSTATSLEWA NTCGIQGRHQ
PISVGVAPIA VAPVCLKTNS QMSGSREVML LQLTVIKVMT TRILSVKTEF HAKEQYRDVI
KILLESAKVD SKLICMFQNS DKLLSHMAAQ CLALLLYFQL REKITLSNSW IAFCQKNLSE
YSESNKAIYC LWTLTAIIKE IFKDSCSQKT EILKQFLTHF DTIFEVFYNS LFSQHFENCR
DTSKIVNILM CFLDLLELLI ASRIHLKLHF TCQRILFLKP SCMLEVITWP IQAFVKRKVI
IFLKKCLLCK VGEDLCRGSV PALMPPDHHV AVDMLALANA VLQAVNSGLL KTLSVYEKHS
FFGGDEVQPE CELITSPDHV ILRAASLVIM KSLEIKFQNY SSASEVKVDL QRFMSELLTF
LKPHLQPSLQ LHNPCKWLSR VFIEQDDDML EAAKASLGIY LTLTRGCEAT ESLTQGKEMW
DHHTHENGYN PHCIFLFFLK NIGFDSTVLL DFLISSETCF LEYFVRYLKL LQKDWDNFFT
ICNNFDATES KYDISICGCV PSLVQDQSSN QTIPHRLTAP HSHRDVCARH SWASDAPSEP
LKAVMSKGAH TMCASSLSSP RASQSLVDYD SSDDSDVEST EQCLANSKQT SLHQQATKEI
QDAAGTSRDK KEFSLEPPSR PLVLKEFDTA FSFDCEVAPN DVVSEVGIFY RIVKCFQELQ
DAICRLQKKN LFPYNPTALL KLLKYIEVIS NKTMNTL
