PHYIP_MOUSE
ID PHYIP_MOUSE Reviewed; 330 AA.
AC Q8K0S0;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Phytanoyl-CoA hydroxylase-interacting protein;
DE AltName: Full=Phytanoyl-CoA hydroxylase-associated protein 1;
DE Short=PAHX-AP1;
DE Short=PAHXAP1;
GN Name=Phyhip;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND
RP INTERACTION WITH PHYH.
RX PubMed=10686344; DOI=10.1016/s0169-328x(99)00304-6;
RA Lee Z.H., Kim H.-H., Ahn K.Y., Seo K.H., Kim J.K., Bae C.S., Kim K.K.;
RT "Identification of a brain specific protein that associates with a Refsum
RT disease gene product, phytanoyl-CoA alpha-hydroxylase.";
RL Brain Res. Mol. Brain Res. 75:237-247(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Hippocampus;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Retina;
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 OVEREXPRESSION IN HEART.
RX PubMed=11527414; DOI=10.1006/bbrc.2001.5510;
RA Koh J.T., Choi H.H., Ahn K.Y., Kim J.U., Kim J.H., Chun J.-Y., Baik Y.H.,
RA Kim K.K.;
RT "Cardiac characteristics of transgenic mice overexpressing Refsum disease
RT gene-associated protein within the heart.";
RL Biochem. Biophys. Res. Commun. 286:1107-1116(2001).
RN [5]
RP INTERACTION WITH ADGRB1.
RX PubMed=11245925; DOI=10.1016/s0169-328x(01)00004-3;
RA Koh J.T., Lee Z.H., Ahn K.Y., Kim J.-K., Bae C.S., Kim H.-H., Kee H.J.,
RA Kim K.K.;
RT "Characterization of mouse brain-specific angiogenesis inhibitor 1 (BAI1)
RT and phytanoyl-CoA alpha-hydroxylase-associated protein 1, a novel BAI1-
RT binding protein.";
RL Brain Res. Mol. Brain Res. 87:223-237(2001).
RN [6]
RP OVEREXPRESSION IN HEART.
RX PubMed=14672712; DOI=10.1016/j.bbrc.2003.11.105;
RA Koh J.T., Jeong B.C., Kim J.H., Ahn Y.K., Lee H.S., Baik Y.H., Kim K.K.;
RT "Changes underlying arrhythmia in the transgenic heart overexpressing
RT Refsum disease gene-associated protein.";
RL Biochem. Biophys. Res. Commun. 313:156-162(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- FUNCTION: Its interaction with PHYH suggests a role in the development
CC of the central system.
CC -!- SUBUNIT: Interacts with PHYH and ADGRB1. {ECO:0000269|PubMed:10686344,
CC ECO:0000269|PubMed:11245925}.
CC -!- TISSUE SPECIFICITY: Highly expressed in the brain.
CC {ECO:0000269|PubMed:10686344}.
CC -!- DEVELOPMENTAL STAGE: At 18 dpc, expressed in most tissues, particularly
CC in the skin. By neonatal day 1, the expression in brain and skin is
CC markedly increased, whereas expression in the heart and skeletal
CC muscles shows steady state levels similar to those observed in the
CC fetus. At adulthood, very high expression in brain, little or no
CC expression in other tissues. {ECO:0000269|PubMed:10686344}.
CC -!- MISCELLANEOUS: Overexpression in heart induce atrial tachycardia and
CC increased susceptibility to aconitine-induced arrhythmia, possibly due
CC to altered expression of voltage-gated K(1+) channel and adrenergic
CC beta1-receptor (ADRB1).
CC -!- SIMILARITY: Belongs to the PHYHIP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH30494.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK049900; BAC33979.1; -; mRNA.
DR EMBL; BC030494; AAH30494.2; ALT_INIT; mRNA.
DR CCDS; CCDS36971.1; -.
DR RefSeq; NP_666093.1; NM_145981.3.
DR RefSeq; XP_006518442.1; XM_006518379.3.
DR RefSeq; XP_006518443.1; XM_006518380.3.
DR AlphaFoldDB; Q8K0S0; -.
DR BioGRID; 222893; 10.
DR IntAct; Q8K0S0; 2.
DR MINT; Q8K0S0; -.
DR STRING; 10090.ENSMUSP00000003561; -.
DR GlyGen; Q8K0S0; 2 sites.
DR iPTMnet; Q8K0S0; -.
DR PhosphoSitePlus; Q8K0S0; -.
DR MaxQB; Q8K0S0; -.
DR PaxDb; Q8K0S0; -.
DR PRIDE; Q8K0S0; -.
DR ProteomicsDB; 301818; -.
DR Antibodypedia; 5280; 107 antibodies from 23 providers.
DR Ensembl; ENSMUST00000003561; ENSMUSP00000003561; ENSMUSG00000003469.
DR GeneID; 105653; -.
DR KEGG; mmu:105653; -.
DR UCSC; uc007uoa.1; mouse.
DR CTD; 9796; -.
DR MGI; MGI:1860417; Phyhip.
DR VEuPathDB; HostDB:ENSMUSG00000003469; -.
DR eggNOG; ENOG502QQIT; Eukaryota.
DR GeneTree; ENSGT00390000014563; -.
DR HOGENOM; CLU_054218_1_0_1; -.
DR InParanoid; Q8K0S0; -.
DR OMA; FQHVRMH; -.
DR OrthoDB; 659430at2759; -.
DR PhylomeDB; Q8K0S0; -.
DR TreeFam; TF314485; -.
DR BioGRID-ORCS; 105653; 3 hits in 73 CRISPR screens.
DR PRO; PR:Q8K0S0; -.
DR Proteomes; UP000000589; Chromosome 14.
DR RNAct; Q8K0S0; protein.
DR Bgee; ENSMUSG00000003469; Expressed in dentate gyrus of hippocampal formation granule cell and 109 other tissues.
DR ExpressionAtlas; Q8K0S0; baseline and differential.
DR Genevisible; Q8K0S0; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:1990782; F:protein tyrosine kinase binding; ISO:MGI.
DR GO; GO:0008104; P:protein localization; ISS:UniProtKB.
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; PF19281; PHYHIP_C; 1.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Reference proteome.
FT CHAIN 1..330
FT /note="Phytanoyl-CoA hydroxylase-interacting protein"
FT /id="PRO_0000058417"
FT DOMAIN 6..115
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT CARBOHYD 14
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000305"
FT CARBOHYD 325
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000305"
SQ SEQUENCE 330 AA; 37555 MW; C87196F5D6BDA7AD CRC64;
MELLSTPHSI EINNITCDSF RISWAMEDSD LERVTHYFID LNKKENKNSN KFKHRDVPTK
LVAKAVPLPM TVRGHWFLSP RTEYSVAVQT AVKQSDGEYL VSGWSETVEF CTGDYAKEHL
AQLQEKAEQI AGRMLRFSVF YRNHHKEYFQ HARTHCGNVL QPYLKDNSGS HGSPTSGMLH
GVFFSCNTEF NTGQPPQDSP YGRWRFQIPA QRLFNPSTNL YFADFYCMYT AYHYAILVLA
PKGSLGDRFC RDRLPLLDIA CNKFLTCSVE DGELIFRHAQ DLILEIIYTE PVDLSLGTLG
EISGHQLMSL STADAKKDPS CKTCNISVGR
