PHIPL_HUMAN
ID PHIPL_HUMAN Reviewed; 376 AA.
AC Q96FC7; B7WP61; Q68DF3; Q6UXY3; Q8N3W3; Q96JM9; Q96NP7;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=Phytanoyl-CoA hydroxylase-interacting protein-like;
GN Name=PHYHIPL; Synonyms=KIAA1796; ORFNames=UNQ6309/PRO20934;
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 2), AND VARIANT LEU-342.
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-342.
RC TISSUE=Cerebellum;
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 MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP LEU-342.
RC TISSUE=Amygdala, and Retina;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-342.
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-342.
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 36-376 (ISOFORM 1), AND VARIANT
RP LEU-342.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 132-376 (ISOFORM 1), AND VARIANT
RP LEU-342.
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: May play a role in the development of the central system.
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q96FC7; A8MW99: MEI4; NbExp=3; IntAct=EBI-748888, EBI-19944212;
CC Q96FC7; O76083-2: PDE9A; NbExp=3; IntAct=EBI-748888, EBI-11524542;
CC Q96FC7-2; O76083: PDE9A; NbExp=3; IntAct=EBI-10285660, EBI-742764;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96FC7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96FC7-2; Sequence=VSP_034067;
CC Name=3;
CC IsoId=Q96FC7-3; Sequence=VSP_034068, VSP_034069;
CC -!- SIMILARITY: Belongs to the PHYHIP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ88529.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAB97028.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL365474; CAB97028.1; ALT_FRAME; mRNA.
DR EMBL; AK054956; BAB70832.1; -; mRNA.
DR EMBL; AL834339; CAD39006.1; -; mRNA.
DR EMBL; CR749429; CAH18267.1; -; mRNA.
DR EMBL; AC016398; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025038; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471083; EAW54185.1; -; Genomic_DNA.
DR EMBL; BC011268; AAH11268.2; -; mRNA.
DR EMBL; AY358162; AAQ88529.1; ALT_INIT; mRNA.
DR EMBL; AB058699; BAB47425.1; -; mRNA.
DR CCDS; CCDS44405.1; -. [Q96FC7-2]
DR CCDS; CCDS7254.1; -. [Q96FC7-1]
DR RefSeq; NP_001137246.1; NM_001143774.1. [Q96FC7-2]
DR RefSeq; NP_115815.2; NM_032439.3. [Q96FC7-1]
DR AlphaFoldDB; Q96FC7; -.
DR SMR; Q96FC7; -.
DR BioGRID; 124092; 19.
DR IntAct; Q96FC7; 33.
DR MINT; Q96FC7; -.
DR STRING; 9606.ENSP00000362987; -.
DR GlyGen; Q96FC7; 3 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q96FC7; -.
DR PhosphoSitePlus; Q96FC7; -.
DR BioMuta; PHYHIPL; -.
DR DMDM; 296439274; -.
DR jPOST; Q96FC7; -.
DR MassIVE; Q96FC7; -.
DR MaxQB; Q96FC7; -.
DR PaxDb; Q96FC7; -.
DR PeptideAtlas; Q96FC7; -.
DR PRIDE; Q96FC7; -.
DR ProteomicsDB; 76508; -. [Q96FC7-1]
DR ProteomicsDB; 76509; -. [Q96FC7-2]
DR ProteomicsDB; 76510; -. [Q96FC7-3]
DR Antibodypedia; 45121; 43 antibodies from 17 providers.
DR DNASU; 84457; -.
DR Ensembl; ENST00000373878.3; ENSP00000362985.3; ENSG00000165443.12. [Q96FC7-2]
DR Ensembl; ENST00000373880.9; ENSP00000362987.4; ENSG00000165443.12. [Q96FC7-1]
DR Ensembl; ENST00000486074.2; ENSP00000423634.1; ENSG00000165443.12. [Q96FC7-3]
DR GeneID; 84457; -.
DR KEGG; hsa:84457; -.
DR MANE-Select; ENST00000373880.9; ENSP00000362987.4; NM_032439.4; NP_115815.2.
DR UCSC; uc001jkk.5; human. [Q96FC7-1]
DR CTD; 84457; -.
DR DisGeNET; 84457; -.
DR GeneCards; PHYHIPL; -.
DR HGNC; HGNC:29378; PHYHIPL.
DR HPA; ENSG00000165443; Tissue enhanced (adrenal gland, brain, retina).
DR neXtProt; NX_Q96FC7; -.
DR OpenTargets; ENSG00000165443; -.
DR PharmGKB; PA134906827; -.
DR VEuPathDB; HostDB:ENSG00000165443; -.
DR eggNOG; ENOG502QQIT; Eukaryota.
DR GeneTree; ENSGT00390000014563; -.
DR HOGENOM; CLU_216044_0_0_1; -.
DR InParanoid; Q96FC7; -.
DR OMA; QLMSMST; -.
DR OrthoDB; 659430at2759; -.
DR PhylomeDB; Q96FC7; -.
DR TreeFam; TF314485; -.
DR PathwayCommons; Q96FC7; -.
DR SignaLink; Q96FC7; -.
DR SIGNOR; Q96FC7; -.
DR BioGRID-ORCS; 84457; 8 hits in 1069 CRISPR screens.
DR ChiTaRS; PHYHIPL; human.
DR GeneWiki; PHYHIPL; -.
DR GenomeRNAi; 84457; -.
DR Pharos; Q96FC7; Tdark.
DR PRO; PR:Q96FC7; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q96FC7; protein.
DR Bgee; ENSG00000165443; Expressed in prefrontal cortex and 142 other tissues.
DR Genevisible; Q96FC7; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR042868; PHYHIP/PHYHIPL.
DR InterPro; IPR045545; PHYIP/PHIPL_C.
DR PANTHER; PTHR15698; PTHR15698; 1.
DR Pfam; PF00041; fn3; 1.
DR Pfam; PF19281; PHYHIP_C; 1.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Phosphoprotein; Reference proteome.
FT CHAIN 1..376
FT /note="Phytanoyl-CoA hydroxylase-interacting protein-like"
FT /id="PRO_0000338641"
FT DOMAIN 52..161
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT MOD_RES 12
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BGT8"
FT MOD_RES 15
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BGT8"
FT MOD_RES 25
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BGT8"
FT CARBOHYD 23
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 37
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..36
FT /note="MEVPRLDHALNSPTSPCEEVIKNLSLEAIQLCDRDG -> MCCDSDFVAR
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_034067"
FT VAR_SEQ 36..49
FT /note="GNKSQDSGIAEMEE -> VVFEELTSKQTRKG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_034068"
FT VAR_SEQ 50..376
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_034069"
FT VARIANT 342
FT /note="V -> L (in dbSNP:rs2452505)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.5"
FT /id="VAR_043817"
SQ SEQUENCE 376 AA; 42486 MW; 82B811267DFF088C CRC64;
MEVPRLDHAL NSPTSPCEEV IKNLSLEAIQ LCDRDGNKSQ DSGIAEMEEL PVPHNIKISN
ITCDSFKISW EMDSKSKDRI THYFIDLNKK ENKNSNKFKH KDVPTKLVAK AVPLPMTVRG
HWFLSPRTEY TVAVQTASKQ VDGDYVVSEW SEIIEFCTAD YSKVHLTQLL EKAEVIAGRM
LKFSVFYRNQ HKEYFDYVRE HHGNAMQPSV KDNSGSHGSP ISGKLEGIFF SCSTEFNTGK
PPQDSPYGRY RFEIAAEKLF NPNTNLYFGD FYCMYTAYHY VILVIAPVGS PGDEFCKQRL
PQLNSKDNKF LTCTEEDGVL VYHHAQDVIL EVIYTDPVDL SVGTVAEITG HQLMSLSTAN
AKKDPSCKTC NISVGR
