IPIL1_HUMAN
ID IPIL1_HUMAN Reviewed; 555 AA.
AC Q6GPH6; F5H1L8; Q8NE61;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1;
DE Flags: Precursor;
GN Name=ITPRIPL1; Synonyms=KIAA1754L;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ARG-280.
RC TISSUE=Pancreas, and 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 Q6GPH6; O43765: SGTA; NbExp=3; IntAct=EBI-953819, EBI-347996;
CC Q6GPH6; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-953819, EBI-741480;
CC Q6GPH6-2; O43765: SGTA; NbExp=3; IntAct=EBI-12337095, EBI-347996;
CC Q6GPH6-2; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-12337095, EBI-744081;
CC Q6GPH6-2; Q12933: TRAF2; NbExp=3; IntAct=EBI-12337095, EBI-355744;
CC Q6GPH6-2; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-12337095, EBI-947187;
CC Q6GPH6-2; A0A1U9X8X8; NbExp=3; IntAct=EBI-12337095, EBI-17234977;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6GPH6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6GPH6-2; Sequence=VSP_031666;
CC Name=3;
CC IsoId=Q6GPH6-3; Sequence=VSP_054316;
CC -!- SIMILARITY: Belongs to the ITPRIP family. {ECO:0000305}.
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DR EMBL; AC021188; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034503; AAH34503.2; -; mRNA.
DR EMBL; BC073153; AAH73153.1; -; mRNA.
DR CCDS; CCDS33250.1; -. [Q6GPH6-2]
DR CCDS; CCDS46360.1; -. [Q6GPH6-1]
DR CCDS; CCDS54378.1; -. [Q6GPH6-3]
DR RefSeq; NP_001008949.1; NM_001008949.2. [Q6GPH6-1]
DR RefSeq; NP_001156995.1; NM_001163523.1. [Q6GPH6-3]
DR RefSeq; NP_001156996.1; NM_001163524.1. [Q6GPH6-3]
DR RefSeq; NP_001311419.1; NM_001324490.1. [Q6GPH6-3]
DR RefSeq; NP_848590.3; NM_178495.5. [Q6GPH6-2]
DR RefSeq; XP_016858916.1; XM_017003427.1. [Q6GPH6-1]
DR AlphaFoldDB; Q6GPH6; -.
DR BioGRID; 127325; 42.
DR IntAct; Q6GPH6; 10.
DR STRING; 9606.ENSP00000355121; -.
DR iPTMnet; Q6GPH6; -.
DR PhosphoSitePlus; Q6GPH6; -.
DR BioMuta; ITPRIPL1; -.
DR DMDM; 74736480; -.
DR EPD; Q6GPH6; -.
DR MassIVE; Q6GPH6; -.
DR PaxDb; Q6GPH6; -.
DR PeptideAtlas; Q6GPH6; -.
DR PRIDE; Q6GPH6; -.
DR ProteomicsDB; 25696; -.
DR ProteomicsDB; 66314; -. [Q6GPH6-1]
DR ProteomicsDB; 66315; -. [Q6GPH6-2]
DR Antibodypedia; 3069; 106 antibodies from 19 providers.
DR DNASU; 150771; -.
DR Ensembl; ENST00000361124.5; ENSP00000355121.4; ENSG00000198885.10. [Q6GPH6-2]
DR Ensembl; ENST00000439118.3; ENSP00000389308.2; ENSG00000198885.10. [Q6GPH6-1]
DR Ensembl; ENST00000536814.1; ENSP00000439566.1; ENSG00000198885.10. [Q6GPH6-3]
DR GeneID; 150771; -.
DR KEGG; hsa:150771; -.
DR MANE-Select; ENST00000439118.3; ENSP00000389308.2; NM_001008949.3; NP_001008949.1.
DR UCSC; uc002svx.4; human. [Q6GPH6-1]
DR CTD; 150771; -.
DR DisGeNET; 150771; -.
DR GeneCards; ITPRIPL1; -.
DR HGNC; HGNC:29371; ITPRIPL1.
DR HPA; ENSG00000198885; Tissue enhanced (testis).
DR neXtProt; NX_Q6GPH6; -.
DR OpenTargets; ENSG00000198885; -.
DR PharmGKB; PA162392345; -.
DR VEuPathDB; HostDB:ENSG00000198885; -.
DR eggNOG; ENOG502RX8U; Eukaryota.
DR GeneTree; ENSGT01050000244827; -.
DR HOGENOM; CLU_025485_2_0_1; -.
DR InParanoid; Q6GPH6; -.
DR OMA; HLQLEDC; -.
DR OrthoDB; 1434451at2759; -.
DR PhylomeDB; Q6GPH6; -.
DR TreeFam; TF332277; -.
DR PathwayCommons; Q6GPH6; -.
DR SignaLink; Q6GPH6; -.
DR SIGNOR; Q6GPH6; -.
DR BioGRID-ORCS; 150771; 10 hits in 1069 CRISPR screens.
DR GenomeRNAi; 150771; -.
DR Pharos; Q6GPH6; Tdark.
DR PRO; PR:Q6GPH6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6GPH6; protein.
DR Bgee; ENSG00000198885; Expressed in sperm and 102 other tissues.
DR ExpressionAtlas; Q6GPH6; baseline and differential.
DR Genevisible; Q6GPH6; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR InterPro; IPR024808; IP3R-int-like_1.
DR InterPro; IPR026250; ITPRIP_fam.
DR InterPro; IPR024810; Mab-21_dom.
DR PANTHER; PTHR10656:SF40; PTHR10656:SF40; 1.
DR Pfam; PF03281; Mab-21; 1.
DR PRINTS; PR02107; INOS145TPRIP.
DR SMART; SM01265; Mab-21; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..24
FT /evidence="ECO:0000255"
FT CHAIN 25..555
FT /note="Inositol 1,4,5-trisphosphate receptor-interacting
FT protein-like 1"
FT /id="PRO_0000320566"
FT TOPO_DOM 25..103
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 104..124
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 125..555
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT COILED 38..74
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..8
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_054316"
FT VAR_SEQ 1..3
FT /note="MNV -> MTTDSYSPTSP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031666"
FT VARIANT 280
FT /note="G -> R (in dbSNP:rs17853311)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039209"
FT VARIANT 428
FT /note="S -> C (in dbSNP:rs35855657)"
FT /id="VAR_039210"
FT VARIANT 463
FT /note="T -> M (in dbSNP:rs2279105)"
FT /id="VAR_039211"
SQ SEQUENCE 555 AA; 63395 MW; 6B915F09A1ACEBFF CRC64;
MNVDAEASMA VISLLFLAVM YVVHHPLMVS DRMDLDTLAR SRQLEKRMSE EMRLLEMEFE
ERKRAAEQRQ KAENFWTGDT SSDQLVLGKK DMGWPFQADG QEGPLGWMLG NLWNTGLFCL
FLVFELLRQN MQHEPAFDSS SEEEEEEVRV VPVTSYNWLT DFPSQEALDS FYKHYVQNAI
RDLPCTCEFV ESFVDDLIEA CRVLSRQEAH PQLEDCLGIG AAFEKWGTLH ETQKFDILVP
IVPPQGTMFV LEMRDPALGR RCGCVLVESE CVCKREKLLG DVLCLVHHHR DPSAVLGKCS
SSIKAALCTG FHLDVCKTVQ WFRNMMGNAW ALVAHKYDFK LSLPPSTTSC KLRLDYRSGR
FLSIHLVLGV QREDTLVYLV SQAPDQEQLT SVDWPESFVA CEHLFLKLVG RFAPENTCHL
KCLQIILSLR QHQSLPHGAS RPILTSYHFK TALMHLLLRL PLTDWAHNML SQRLQDILWF
LGRGLQQRSL HHFLIGNNFL PLTIPIPKTF RNAEPVNLFQ HLVLNPKAHS QAVEEFQNLL
TQVKTLPHAP LAAAP
