PHYIP_HUMAN
ID PHYIP_HUMAN Reviewed; 330 AA.
AC Q92561; D3DSR1; Q8N4I9;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1997, sequence version 1.
DT 03-AUG-2022, entry version 162.
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; Synonyms=DYRK1AP3, KIAA0273;
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].
RC TISSUE=Bone marrow;
RX PubMed=9039502; DOI=10.1093/dnares/3.5.321;
RA Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O.,
RA Tanaka A., Kotani H., Miyajima N., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. VI. The
RT coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of
RT cDNA clones from cell line KG-1 and brain.";
RL DNA Res. 3:321-329(1996).
RN [2]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
RP TISSUE SPECIFICITY, AND 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).
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 -!- TISSUE SPECIFICITY: Highly expressed in the brain.
CC {ECO:0000269|PubMed:10686344}.
CC -!- SIMILARITY: Belongs to the PHYHIP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA13402.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; D87463; BAA13402.2; ALT_INIT; mRNA.
DR EMBL; CH471080; EAW63693.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63694.1; -; Genomic_DNA.
DR EMBL; BC034034; AAH34034.1; -; mRNA.
DR EMBL; BC035940; AAH35940.1; -; mRNA.
DR CCDS; CCDS43723.1; -.
DR RefSeq; NP_001092805.1; NM_001099335.1.
DR RefSeq; NP_055574.3; NM_014759.3.
DR RefSeq; XP_006716479.1; XM_006716416.1.
DR AlphaFoldDB; Q92561; -.
DR SMR; Q92561; -.
DR BioGRID; 115139; 43.
DR IntAct; Q92561; 30.
DR STRING; 9606.ENSP00000415491; -.
DR GlyGen; Q92561; 2 sites.
DR iPTMnet; Q92561; -.
DR PhosphoSitePlus; Q92561; -.
DR BioMuta; PHYHIP; -.
DR DMDM; 2495731; -.
DR jPOST; Q92561; -.
DR MassIVE; Q92561; -.
DR MaxQB; Q92561; -.
DR PaxDb; Q92561; -.
DR PeptideAtlas; Q92561; -.
DR PRIDE; Q92561; -.
DR ProteomicsDB; 75317; -.
DR Antibodypedia; 5280; 107 antibodies from 23 providers.
DR DNASU; 9796; -.
DR Ensembl; ENST00000321613.7; ENSP00000320017.3; ENSG00000168490.14.
DR Ensembl; ENST00000454243.7; ENSP00000415491.2; ENSG00000168490.14.
DR GeneID; 9796; -.
DR KEGG; hsa:9796; -.
DR MANE-Select; ENST00000454243.7; ENSP00000415491.2; NM_014759.5; NP_055574.3.
DR UCSC; uc003xbj.5; human.
DR CTD; 9796; -.
DR DisGeNET; 9796; -.
DR GeneCards; PHYHIP; -.
DR HGNC; HGNC:16865; PHYHIP.
DR HPA; ENSG00000168490; Tissue enriched (brain).
DR MIM; 608511; gene.
DR neXtProt; NX_Q92561; -.
DR OpenTargets; ENSG00000168490; -.
DR PharmGKB; PA33281; -.
DR VEuPathDB; HostDB:ENSG00000168490; -.
DR eggNOG; ENOG502QQIT; Eukaryota.
DR GeneTree; ENSGT00390000014563; -.
DR HOGENOM; CLU_054218_1_0_1; -.
DR InParanoid; Q92561; -.
DR OMA; FQHVRMH; -.
DR OrthoDB; 659430at2759; -.
DR PhylomeDB; Q92561; -.
DR TreeFam; TF314485; -.
DR PathwayCommons; Q92561; -.
DR SignaLink; Q92561; -.
DR BioGRID-ORCS; 9796; 14 hits in 1076 CRISPR screens.
DR ChiTaRS; PHYHIP; human.
DR GenomeRNAi; 9796; -.
DR Pharos; Q92561; Tdark.
DR PRO; PR:Q92561; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q92561; protein.
DR Bgee; ENSG00000168490; Expressed in right hemisphere of cerebellum and 130 other tissues.
DR ExpressionAtlas; Q92561; baseline and differential.
DR Genevisible; Q92561; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:1990782; F:protein tyrosine kinase binding; IPI:UniProtKB.
DR GO; GO:0008104; P:protein localization; IDA: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_0000058416"
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:0000255"
FT CARBOHYD 325
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 21
FT /note="R -> S (in dbSNP:rs11547660)"
FT /id="VAR_018475"
FT CONFLICT 150
FT /note="Q -> E (in Ref. 3; AAH34034/AAH35940)"
FT /evidence="ECO:0000305"
FT CONFLICT 245
FT /note="L -> M (in Ref. 3; AAH34034/AAH35940)"
FT /evidence="ECO:0000305"
FT CONFLICT 254
FT /note="L -> R (in Ref. 3; AAH34034/AAH35940)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 330 AA; 37573 MW; 777199E6BB071D1C CRC64;
MELLSTPHSI EINNITCDSF RISWAMEDSD LERVTHYFID LNKKENKNSN KFKHRDVPTK
LVAKAVPLPM TVRGHWFLSP RTEYSVAVQT AVKQSDGEYL VSGWSETVEF CTGDYAKEHL
AQLQEKAEQI AGRMLRFSVF YRNHHKEYFQ HARTHCGNML QPYLKDNSGS HGSPTSGMLH
GVFFSCNTEF NTGQPPQDSP YGRWRFQIPA QRLFNPSTNL YFADFYCMYT AYHYAILVLA
PKGSLGDRFC RDRLPLLDIA CNKFLTCSVE DGELVFRHAQ DLILEIIYTE PVDLSLGTLG
EISGHQLMSL STADAKKDPS CKTCNISVGR
