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   24-JAN-2024, entry version 170.
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.ENSP00000320017; -.
DR   GlyCosmos; Q92561; 2 sites, No reported glycans.
DR   GlyGen; Q92561; 3 sites, 1 O-linked glycan (1 site).
DR   iPTMnet; Q92561; -.
DR   PhosphoSitePlus; Q92561; -.
DR   BioMuta; PHYHIP; -.
DR   DMDM; 2495731; -.
DR   jPOST; Q92561; -.
DR   MassIVE; Q92561; -.
DR   MaxQB; Q92561; -.
DR   PaxDb; 9606-ENSP00000415491; -.
DR   PeptideAtlas; Q92561; -.
DR   ProteomicsDB; 75317; -.
DR   Antibodypedia; 5280; 114 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   AGR; HGNC:16865; -.
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; FLTCCME; -.
DR   OrthoDB; 3915561at2759; -.
DR   PhylomeDB; Q92561; -.
DR   TreeFam; TF314485; -.
DR   PathwayCommons; Q92561; -.
DR   SignaLink; Q92561; -.
DR   BioGRID-ORCS; 9796; 15 hits in 1155 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 132 other cell types or tissues.
DR   ExpressionAtlas; Q92561; baseline and differential.
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; Immunoglobulins; 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:SF9; PHYTANOYL-COA HYDROXYLASE-INTERACTING PROTEIN; 1.
DR   PANTHER; PTHR15698; PROTEIN CBG15099; 1.
DR   Pfam; PF19281; PHYHIP_C; 1.
DR   SUPFAM; SSF49265; Fibronectin type III; 1.
DR   PROSITE; PS50853; FN3; 1.
DR   Genevisible; Q92561; HS.
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
//