LHPL6_HUMAN
ID LHPL6_HUMAN Reviewed; 200 AA.
AC Q9Y693; B2R7M2; Q53FC0; Q96SH5;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=LHFPL tetraspan subfamily member 6 protein {ECO:0000312|HGNC:HGNC:6586};
DE AltName: Full=Lipoma HMGIC fusion partner {ECO:0000312|HGNC:HGNC:6586};
DE Flags: Precursor;
GN Name=LHFPL6 {ECO:0000312|HGNC:HGNC:6586};
GN Synonyms=LHFP {ECO:0000312|HGNC:HGNC:6586};
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], TISSUE SPECIFICITY, AND DISEASE.
RX PubMed=10329012; DOI=10.1006/geno.1999.5778;
RA Petit M.M.R., Schoenmakers E.F.P.M., Huysmans C., Geurts J.M.W.,
RA Mandahl N., Van de Ven W.J.M.;
RT "LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member
RT of a new family of LHFP-like genes.";
RL Genomics 57:438-441(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
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=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 141-200.
RC TISSUE=Dermoid cancer;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Pancreas, kidney, skeletal muscle, liver, lung
CC brain, heart, colon, small intestine, uterus, testis, prostate, thymus,
CC spleen and placenta. {ECO:0000269|PubMed:10329012}.
CC -!- DISEASE: Note=A chromosomal aberration involving LHFP is associated
CC with a subclass of benign mesenchymal tumors known as lipomas.
CC Translocation t(12;13)(q13-q15;q12) with HMGA2 is shown in lipomas.
CC {ECO:0000269|PubMed:10329012}.
CC -!- SIMILARITY: Belongs to the LHFP family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/LHFPID248ch13q12.html";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF098807; AAD31386.1; -; mRNA.
DR EMBL; AL138685; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136358; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL158194; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471075; EAX08616.1; -; Genomic_DNA.
DR EMBL; BC017824; AAH17824.1; -; mRNA.
DR EMBL; AK223369; BAD97089.1; -; mRNA.
DR EMBL; AK313036; BAG35869.1; -; mRNA.
DR CCDS; CCDS9369.1; -.
DR RefSeq; NP_005771.1; NM_005780.2.
DR RefSeq; XP_011533163.1; XM_011534861.1.
DR AlphaFoldDB; Q9Y693; -.
DR SMR; Q9Y693; -.
DR BioGRID; 115483; 9.
DR STRING; 9606.ENSP00000368908; -.
DR TCDB; 1.A.82.1.6; the lhfpl tetraspan protein (ltsp) family.
DR iPTMnet; Q9Y693; -.
DR PhosphoSitePlus; Q9Y693; -.
DR SwissPalm; Q9Y693; -.
DR BioMuta; LHFPL6; -.
DR DMDM; 74753519; -.
DR jPOST; Q9Y693; -.
DR MassIVE; Q9Y693; -.
DR MaxQB; Q9Y693; -.
DR PaxDb; Q9Y693; -.
DR PeptideAtlas; Q9Y693; -.
DR PRIDE; Q9Y693; -.
DR ProteomicsDB; 86627; -.
DR Antibodypedia; 67484; 90 antibodies from 14 providers.
DR DNASU; 10186; -.
DR Ensembl; ENST00000379589.4; ENSP00000368908.3; ENSG00000183722.9.
DR Ensembl; ENST00000648377.1; ENSP00000496801.1; ENSG00000183722.9.
DR GeneID; 10186; -.
DR KEGG; hsa:10186; -.
DR MANE-Select; ENST00000379589.4; ENSP00000368908.3; NM_005780.3; NP_005771.1.
DR UCSC; uc001uxf.4; human.
DR CTD; 10186; -.
DR DisGeNET; 10186; -.
DR GeneCards; LHFPL6; -.
DR HGNC; HGNC:6586; LHFPL6.
DR HPA; ENSG00000183722; Low tissue specificity.
DR MIM; 606710; gene.
DR neXtProt; NX_Q9Y693; -.
DR OpenTargets; ENSG00000183722; -.
DR PharmGKB; PA30358; -.
DR VEuPathDB; HostDB:ENSG00000183722; -.
DR eggNOG; KOG4026; Eukaryota.
DR GeneTree; ENSGT00990000203589; -.
DR HOGENOM; CLU_084868_2_0_1; -.
DR InParanoid; Q9Y693; -.
DR OMA; ITVMVEQ; -.
DR OrthoDB; 1383327at2759; -.
DR PhylomeDB; Q9Y693; -.
DR TreeFam; TF321143; -.
DR PathwayCommons; Q9Y693; -.
DR BioGRID-ORCS; 10186; 5 hits in 1062 CRISPR screens.
DR ChiTaRS; LHFPL6; human.
DR GeneWiki; LHFP; -.
DR GenomeRNAi; 10186; -.
DR Pharos; Q9Y693; Tbio.
DR PRO; PR:Q9Y693; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q9Y693; protein.
DR Bgee; ENSG00000183722; Expressed in vena cava and 205 other tissues.
DR ExpressionAtlas; Q9Y693; baseline and differential.
DR Genevisible; Q9Y693; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR InterPro; IPR019372; LHFPL.
DR PANTHER; PTHR12489; PTHR12489; 1.
DR Pfam; PF10242; L_HMGIC_fpl; 1.
PE 2: Evidence at transcript level;
KW Chromosomal rearrangement; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..200
FT /note="LHFPL tetraspan subfamily member 6 protein"
FT /id="PRO_0000244756"
FT TRANSMEM 84..104
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 123..143
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 166..186
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 200 AA; 21598 MW; 49D1161602966423 CRC64;
MASSLTCTGV IWALLSFLCA ATSCVGFFMP YWLWGSQLGK PVSFGTFRRC SYPVHDESRQ
MMVMVEECGR YASFQGIPSA EWRICTIVTG LGCGLLLLVA LTALMGCCVS DLISRTVGRV
AGGIQFLGGL LIGAGCALYP LGWDSEEVRQ TCGYTSGQFD LGKCEIGWAY YCTGAGATAA
MLLCTWLACF SGKKQKHYPY