LOCUS       NM_014759               2976 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein
            (PHYHIP), transcript variant 2, mRNA.
ACCESSION   NM_014759
VERSION     NM_014759.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2976)
  AUTHORS   Aisagbonhi,O., Bui,T., Nasamran,C.A., St Louis,H., Pizzo,D.,
            Meads,M., Mulholland,M., Magallanes,C., Lamale-Smith,L.,
            Laurent,L.C., Morey,R., Jacobs,M.B., Fisch,K.M. and Horii,M.
  TITLE     High placental expression of FLT1, LEP, PHYHIP and IL3RA - In
            persons of African ancestry with severe preeclampsia
  JOURNAL   Placenta 144, 13-22 (2023)
   PUBMED   37949031
  REMARK    GeneRIF: High placental expression of FLT1, LEP, PHYHIP and IL3RA -
            In persons of African ancestry with severe preeclampsia.
REFERENCE   2  (bases 1 to 2976)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2976)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 2976)
  AUTHORS   Weissglas-Volkov,D., Aguilar-Salinas,C.A., Nikkola,E., Deere,K.A.,
            Cruz-Bautista,I., Arellano-Campos,O., Munoz-Hernandez,L.L.,
            Gomez-Munguia,L., Ordonez-Sanchez,M.L., Reddy,P.M., Lusis,A.J.,
            Matikainen,N., Taskinen,M.R., Riba,L., Cantor,R.M.,
            Sinsheimer,J.S., Tusie-Luna,T. and Pajukanta,P.
  TITLE     Genomic study in Mexicans identifies a new locus for triglycerides
            and refines European lipid loci
  JOURNAL   J Med Genet 50 (5), 298-308 (2013)
   PUBMED   23505323
REFERENCE   5  (bases 1 to 2976)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   6  (bases 1 to 2976)
  AUTHORS   Bescond,M. and Rahmani,Z.
  TITLE     Dual-specificity tyrosine-phosphorylated and regulated kinase 1A
            (DYRK1A) interacts with the phytanoyl-CoA alpha-hydroxylase
            associated protein 1 (PAHX-AP1), a brain specific protein
  JOURNAL   Int J Biochem Cell Biol 37 (4), 775-783 (2005)
   PUBMED   15694837
  REMARK    GeneRIF: PAHX-AP1 may contribute to new cellular functions of
            DYRK1A and suggest that PAHX-AP1 may be involved in the development
            of neurological abnormalities observed in Down syndrome patients
REFERENCE   7  (bases 1 to 2976)
  AUTHORS   Koh,J.T., Lee,Z.H., Ahn,K.Y., Kim,J.K., Bae,C.S., Kim,H.H.,
            Kee,H.J. and Kim,K.K.
  TITLE     Characterization of mouse brain-specific angiogenesis inhibitor 1
            (BAI1) and phytanoyl-CoA alpha-hydroxylase-associated protein 1, a
            novel BAI1-binding protein
  JOURNAL   Brain Res Mol Brain Res 87 (2), 223-237 (2001)
   PUBMED   11245925
REFERENCE   8  (bases 1 to 2976)
  AUTHORS   Lee,Z.H., Kim,H., Ahn,K.Y., Seo,K.H., Kim,J.K., Bae,C.S. and
            Kim,K.K.
  TITLE     Identification of a brain specific protein that associates with a
            refsum disease gene product, phytanoyl-CoA alpha-hydroxylase
  JOURNAL   Brain Res Mol Brain Res 75 (2), 237-247 (2000)
   PUBMED   10686344
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC105206.8.
            
            On Aug 31, 2019 this sequence version replaced NM_014759.4.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035940.1, SRR1803612.196987.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000454243.7/ ENSP00000415491.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-304               AC105206.8         55749-56052
            305-498             AC105206.8         59462-59655
            499-673             AC105206.8         60823-60997
            674-791             AC105206.8         63505-63622
            792-2976            AC105206.8         65961-68145
FEATURES             Location/Qualifiers
     source          1..2976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..2976
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /note="phytanoyl-CoA 2-hydroxylase interacting protein"
                     /db_xref="GeneID:9796"
                     /db_xref="HGNC:HGNC:16865"
                     /db_xref="MIM:608511"
     exon            1..304
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            305..498
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             334..1326
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /note="phytanoyl-CoA alpha-hydroxylase associated protein;
                     DYRK1A interacting protein 3; PAHX-AP1; phytanoyl-CoA
                     hydroxylase-associated protein 1"
                     /codon_start=1
                     /product="phytanoyl-CoA hydroxylase-interacting protein"
                     /protein_id="NP_055574.3"
                     /db_xref="CCDS:CCDS43723.1"
                     /db_xref="GeneID:9796"
                     /db_xref="HGNC:HGNC:16865"
                     /db_xref="MIM:608511"
                     /translation="MELLSTPHSIEINNITCDSFRISWAMEDSDLERVTHYFIDLNKK
                     ENKNSNKFKHRDVPTKLVAKAVPLPMTVRGHWFLSPRTEYSVAVQTAVKQSDGEYLVS
                     GWSETVEFCTGDYAKEHLAQLQEKAEQIAGRMLRFSVFYRNHHKEYFQHARTHCGNML
                     QPYLKDNSGSHGSPTSGMLHGVFFSCNTEFNTGQPPQDSPYGRWRFQIPAQRLFNPST
                     NLYFADFYCMYTAYHYAILVLAPKGSLGDRFCRDRLPLLDIACNKFLTCSVEDGELVF
                     RHAQDLILEIIYTEPVDLSLGTLGEISGHQLMSLSTADAKKDPSCKTCNISVGR"
     exon            499..673
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            674..791
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            792..2976
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2935..2940
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /note="hexamer: AATAAA"
     polyA_site      2976
                     /gene="PHYHIP"
                     /gene_synonym="DYRK1AP3; PAHX-AP; PAHXAP1"
                     /note="major polyA site"
ORIGIN      
        1 ctttctccct tctctgcctc tctctcctcc acgctgcttt gatttcgctc ttgcctctct
       61 tcttgcgctg ctcagctggg aacatcgtct caccaggggc agcagcgacg cgctgcacag
      121 ccagacagga gctggctgcg gggcatggaa gcagcctcct tggcagccgg gagaggagca
      181 agcgcacgcc actgcccgtg acccaggcgt ccggctgctg tcccctgccg gggagctcat
      241 ccacgcagag gtctctccct gtcctccctg cgagcttttc ctctgcagag cccagtggag
      301 ccagtcccca caggagacaa ccctgacggg agcatggagc tgctgtccac gccccacagc
      361 attgagatca acaacatcac ctgcgactcc ttccgcatct cctgggccat ggaggacagt
      421 gacctggaga gggtcaccca ttacttcatt gaccttaaca agaaggagaa taagaattcc
      481 aacaagttca agcaccggga cgtccccacc aagctcgtgg ccaaggcagt gccgctgccc
      541 atgacggtga gaggccactg gttcctgagc ccccgcacgg agtacagtgt ggccgtgcag
      601 acggcagtga agcagagcga tggggagtac ctggtgtccg gctggagcga gacggtggag
      661 ttctgcactg gggattatgc caaggagcac ctggctcagc ttcaggagaa agctgagcag
      721 atcgcaggcc gcatgctccg cttctccgtc ttctaccgca accatcacaa ggagtacttc
      781 cagcatgcca ggacccactg cgggaacatg ctgcagcctt acctgaagga caacagtggc
      841 agccacggct cccccaccag cggtatgctc cacggggtct tcttcagctg caacacggag
      901 ttcaacacgg gccagccccc gcaggactcc ccctacggcc gctggcgctt ccagatccca
      961 gctcagcgcc tcttcaatcc cagcaccaac ctctactttg cggacttcta ctgcatgtac
     1021 acggcctacc actacgccat cctggtgctg gcgcccaaag gctccctggg ggaccgcttc
     1081 tgccgcgacc gcctgcccct cctggacatt gcttgcaaca agttcctgac ctgcagcgtg
     1141 gaggatgggg agctggtctt ccgccacgcc caggacctca tcctggagat catctacact
     1201 gagcccgtcg acctgtccct gggcaccctg ggggagatca gtgggcacca gctcatgagt
     1261 ctgtctactg ccgatgccaa gaaggacccc agctgcaaga cctgcaacat cagcgtgggc
     1321 cgctagggac tcctggggag ctggggggcg agggagagat gagcggaagg tggaggtggg
     1381 tagcccaggt tcagggagct ggctttctct ctcctgcccc cctgctccct ccactctgcc
     1441 cagctgccct cccctcgccc cttggcattg gaggcaacag acggtggtcc tcttggtaag
     1501 tgtggcccac acccagcctg gtggacatgg aaaggcttct cagcctctgt agttggcagc
     1561 tgggctggac ttctggagaa cttccccttt cctctggttt ccttgtccta ctgttctttg
     1621 cctcgtccag gtctctatct cccaaagacc tgcccacctc ctgggctctc ccagggaagc
     1681 ccctctgggc caaagcccat gggtagcttg gctgcctcca gaagagatgc agagagctgt
     1741 ggggcgatct ttcttagtcc cactcacccc actcagggcc aaccacagaa tgccccctcc
     1801 ctgctgagct gggtctctgg ggcttcccac tccaggcctg gatcccttcc ttctataaat
     1861 agtctcctgc accaccgtga ctccctggct gctccttgcc ccaaagaacc ctcttcctgc
     1921 atgggagagc tgtccctcct tctccacctg cccaccggga cactccccct gctctctaga
     1981 aaggaactct ctttcttctc ttggcactgg gggcgtcagg ctgtcggatg ttccttcctt
     2041 ccatacccca gcataccttc tccttgctta gagtgcaggg gtctgagaca gcagccactg
     2101 gggttgagga gggggaggag acccctgaga cccagaggtg ccccttcctc agctgggagt
     2161 gggccgcctc atgctctgct ggggcctggc atggaacgtg agacctgtaa gctgtcccgc
     2221 gggccccggc accccgccca gctgtgcact ttgctcactc gctctgccat ggtgccatga
     2281 ctgtactgtg cccatgcgtg acctggactg tggaccctct gctgctccgc ctctcccctc
     2341 cccactggct ctgtctgctc tcctgccacc ctgctggccg ggagcccctc cccggggagt
     2401 tcttggtgaa gtccttcccg ggcctccttg tgtttttgcc tcattcctac tgtcacacag
     2461 gtcacgaggg tggactccct acaatcaaca aagcaaacag agagcctgtg ggaggggctg
     2521 acagcagcag ccggctgttt gggggatgat ggaggtgaca tcaggcagag gagagtgcag
     2581 cctcacagtg actttctcag aggtgacaga gatgatggat gagcagctgg attttcgtga
     2641 tgaaggacgg aagcagcagc gggccggcaa ggccatacct cggtgaggga caggtggaca
     2701 acggtcacct atctgtagcc aggggcagtt gtgtggccag ctgtctctct gggatgagtc
     2761 aggaggcctg gaggcttggg gagaggtgtg gagaaggaga gaacatggcc caggcccttt
     2821 ccttccccct gtgctgacag cattgctgtg ggggtggccc actgccctcc cctggccctc
     2881 atgtcccccc ggggctgggg tccgcctgcc tgtgctgtgc ttgcgacgtg catcaataaa
     2941 ccaccatggc ctgagggccc tgctcgtctc agtcca
//
