IGFR1_HUMAN
ID IGFR1_HUMAN Reviewed; 355 AA.
AC Q9H665; Q8N5X0;
DT 12-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=IGF-like family receptor 1;
DE AltName: Full=Transmembrane protein 149;
DE AltName: Full=U2 small nuclear RNA auxiliary factor 1-like 4;
DE Flags: Precursor;
GN Name=IGFLR1; Synonyms=TMEM149, U2AF1L4;
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 MRNA] (ISOFORM 1).
RC TISSUE=Small intestine;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Eye;
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 FUNCTION, SUBCELLULAR LOCATION, AND INDUCTION.
RX PubMed=21454693; DOI=10.1074/jbc.m111.224626;
RA Lobito A.A., Ramani S.R., Tom I., Bazan J.F., Luis E., Fairbrother W.J.,
RA Ouyang W., Gonzalez L.C.;
RT "Murine IGFL and human IGFL1 are induced in inflammatory skin conditions
RT and bind to a novel TNF receptor family member, IGFLR1.";
RL J. Biol. Chem. 286:18969-18981(2011).
CC -!- FUNCTION: Probable cell membrane receptor for the IGF-like family
CC proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind
CC IGFL2. {ECO:0000269|PubMed:21454693}.
CC -!- INTERACTION:
CC Q9H665; Q6UW32: IGFL1; NbExp=5; IntAct=EBI-3870439, EBI-3870426;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21454693};
CC Single-pass type I membrane protein {ECO:0000269|PubMed:21454693}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H665-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H665-2; Sequence=VSP_026145;
CC -!- INDUCTION: Up-regulated by the pro-inflammatory cytokine TNFA and in
CC skin upon tissue inflammation. {ECO:0000269|PubMed:21454693}.
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DR EMBL; AK026226; BAB15400.1; -; mRNA.
DR EMBL; AD000671; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031329; AAH31329.1; -; mRNA.
DR EMBL; BC126481; AAI26482.1; -; mRNA.
DR EMBL; BC126483; AAI26484.1; -; mRNA.
DR CCDS; CCDS12472.1; -. [Q9H665-1]
DR CCDS; CCDS86751.1; -. [Q9H665-2]
DR RefSeq; NP_001332933.1; NM_001346004.1. [Q9H665-2]
DR RefSeq; NP_001332934.1; NM_001346005.1. [Q9H665-2]
DR RefSeq; NP_078936.1; NM_024660.3. [Q9H665-1]
DR AlphaFoldDB; Q9H665; -.
DR SMR; Q9H665; -.
DR IntAct; Q9H665; 4.
DR STRING; 9606.ENSP00000246532; -.
DR BindingDB; Q9H665; -.
DR ChEMBL; CHEMBL2029192; -.
DR iPTMnet; Q9H665; -.
DR PhosphoSitePlus; Q9H665; -.
DR BioMuta; IGFLR1; -.
DR DMDM; 74718463; -.
DR jPOST; Q9H665; -.
DR MassIVE; Q9H665; -.
DR PaxDb; Q9H665; -.
DR PeptideAtlas; Q9H665; -.
DR PRIDE; Q9H665; -.
DR ProteomicsDB; 80959; -. [Q9H665-1]
DR ProteomicsDB; 80960; -. [Q9H665-2]
DR Antibodypedia; 2411; 82 antibodies from 17 providers.
DR DNASU; 79713; -.
DR Ensembl; ENST00000246532.6; ENSP00000246532.1; ENSG00000126246.10. [Q9H665-1]
DR Ensembl; ENST00000592537.5; ENSP00000466181.1; ENSG00000126246.10. [Q9H665-1]
DR Ensembl; ENST00000592889.1; ENSP00000467750.1; ENSG00000126246.10. [Q9H665-2]
DR GeneID; 79713; -.
DR KEGG; hsa:79713; -.
DR MANE-Select; ENST00000246532.6; ENSP00000246532.1; NM_024660.4; NP_078936.1.
DR UCSC; uc002obb.4; human. [Q9H665-1]
DR CTD; 79713; -.
DR DisGeNET; 79713; -.
DR GeneCards; IGFLR1; -.
DR HGNC; HGNC:23620; IGFLR1.
DR HPA; ENSG00000126246; Tissue enhanced (liver).
DR MIM; 614143; gene.
DR neXtProt; NX_Q9H665; -.
DR OpenTargets; ENSG00000126246; -.
DR PharmGKB; PA134884390; -.
DR VEuPathDB; HostDB:ENSG00000126246; -.
DR eggNOG; ENOG502RZ9Q; Eukaryota.
DR GeneTree; ENSGT00390000005702; -.
DR HOGENOM; CLU_877045_0_0_1; -.
DR InParanoid; Q9H665; -.
DR OMA; TLPFREC; -.
DR OrthoDB; 1035824at2759; -.
DR PhylomeDB; Q9H665; -.
DR TreeFam; TF338761; -.
DR PathwayCommons; Q9H665; -.
DR SignaLink; Q9H665; -.
DR BioGRID-ORCS; 79713; 18 hits in 1080 CRISPR screens.
DR GenomeRNAi; 79713; -.
DR Pharos; Q9H665; Tdark.
DR PRO; PR:Q9H665; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9H665; protein.
DR Bgee; ENSG00000126246; Expressed in granulocyte and 95 other tissues.
DR ExpressionAtlas; Q9H665; baseline and differential.
DR Genevisible; Q9H665; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR Gene3D; 1.10.533.10; -; 1.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR InterPro; IPR042355; IGFLR1.
DR PANTHER; PTHR14657; PTHR14657; 1.
DR SUPFAM; SSF47986; SSF47986; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Membrane; Receptor;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..355
FT /note="IGF-like family receptor 1"
FT /id="PRO_0000290357"
FT TOPO_DOM 23..163
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 164..184
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 185..355
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 120..147
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 129..147
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 53..240
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026145"
FT VARIANT 189
FT /note="W -> R (in dbSNP:rs34562867)"
FT /id="VAR_032775"
SQ SEQUENCE 355 AA; 37895 MW; 52C41A73E673623C CRC64;
MGPGRCLLTA LLLLALAPPP EASQYCGRLE YWNPDNKCCS SCLQRFGPPP CPDYEFRENC
GLNDHGDFVT PPFRKCSSGQ CNPDGAELCS PCGGGAVTPT PAAGGGRTPW RCRERPVPAK
GHCPLTPGNP GAPSSQERSS PASSIAWRTP EPVPQQAWPN FLPLVVLVLL LTLAVIAILL
FILLWHLCWP KEKADPYPYP GLVCGVPNTH TPSSSHLSSP GALETGDTWK EASLLPLLSR
ELSSLASQPL SRLLDELEVL EELIVLLDPE PGPGGGMAHG TTRHLAARYG LPAAWSTFAY
SLRPSRSPLR ALIEMVVARE PSASLGQLGT HLAQLGRADA LRVLSKLGSS GVCWA
