LOCUS       NP_689616               1009 aa            linear   PRI 06-AUG-2024
DEFINITION  pikachurin isoform 1 precursor [Homo sapiens].
ACCESSION   NP_689616
VERSION     NP_689616.2
DBSOURCE    REFSEQ: accession NM_152403.4
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  (residues 1 to 1009)
  AUTHORS   Li,K., Zhu,Q., Du,S., Zhao,Q., Ba,D., Zeng,X., Peng,Q., Cai,J.,
            Zhao,Y., Jin,H. and Qi,L.
  TITLE     EGFLAM exhibits oncogenic activity and shows promise as a
            prognostic biomarker and therapeutic target in glioblastoma
  JOURNAL   Int Immunopharmacol 138, 112625 (2024)
   PUBMED   38996666
  REMARK    GeneRIF: EGFLAM exhibits oncogenic activity and shows promise as a
            prognostic biomarker and therapeutic target in glioblastoma.
REFERENCE   2  (residues 1 to 1009)
  AUTHORS   Patil,D.N., Pantalone,S., Cao,Y., Laboute,T., Novick,S.J.,
            Singh,S., Savino,S., Faravelli,S., Magnani,F., Griffin,P.R.,
            Singh,A.K., Forneris,F. and Martemyanov,K.A.
  TITLE     Structure of the photoreceptor synaptic assembly of the
            extracellular matrix protein pikachurin with the orphan receptor
            GPR179
  JOURNAL   Sci Signal 16 (795), eadd9539 (2023)
   PUBMED   37490546
  REMARK    GeneRIF: Structure of the photoreceptor synaptic assembly of the
            extracellular matrix protein pikachurin with the orphan receptor
            GPR179.
REFERENCE   3  (residues 1 to 1009)
  AUTHORS   Chen,J., Zhang,J., Hong,L. and Zhou,Y.
  TITLE     EGFLAM correlates with cell proliferation, migration, invasion and
            poor prognosis in glioblastoma
  JOURNAL   Cancer Biomark 24 (3), 343-350 (2019)
   PUBMED   30829611
  REMARK    GeneRIF: this is the first report to describe that EGFLAM promoted
            the proliferation, migration and invasion of GBM cells via the
            activation of PI3K/AKT pathway, and predicted poor prognosis in GBM
            patients.
REFERENCE   4  (residues 1 to 1009)
  AUTHORS   Orlandi,C., Omori,Y., Wang,Y., Cao,Y., Ueno,A., Roux,M.J.,
            Condomitti,G., de Wit,J., Kanagawa,M., Furukawa,T. and
            Martemyanov,K.A.
  TITLE     Transsynaptic Binding of Orphan Receptor GPR179 to
            Dystroglycan-Pikachurin Complex Is Essential for the Synaptic
            Organization of Photoreceptors
  JOURNAL   Cell Rep 25 (1), 130-145 (2018)
   PUBMED   30282023
REFERENCE   5  (residues 1 to 1009)
  AUTHORS   Yamada,Y., Sakuma,J., Takeuchi,I., Yasukochi,Y., Kato,K., Oguri,M.,
            Fujimaki,T., Horibe,H., Muramatsu,M., Sawabe,M., Fujiwara,Y.,
            Taniguchi,Y., Obuchi,S., Kawai,H., Shinkai,S., Mori,S., Arai,T. and
            Tanaka,M.
  TITLE     Identification of EGFLAM, SPATC1L and RNASE13 as novel
            susceptibility loci for aortic aneurysm in Japanese individuals by
            exome-wide association studies
  JOURNAL   Int J Mol Med 39 (5), 1091-1100 (2017)
   PUBMED   28339009
  REMARK    GeneRIF: rs1465567 of EGFLAM and rs113710653 of SPATC1L may be
            susceptibility loci for true aortic aneurysm and rs143881017 of
            RNASE13 may be such a locus for dissecting aortic aneurysm in
            Japanese individuals.
REFERENCE   6  (residues 1 to 1009)
  AUTHORS   Adkins,D.E., Clark,S.L., Aberg,K., Hettema,J.M., Bukszar,J.,
            McClay,J.L., Souza,R.P. and van den Oord,E.J.
  TITLE     Genome-wide pharmacogenomic study of citalopram-induced side
            effects in STAR*D
  JOURNAL   Transl Psychiatry 2 (7), e129 (2012)
   PUBMED   22760553
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 1009)
  AUTHORS   Hu,H., Li,J., Zhang,Z. and Yu,M.
  TITLE     Pikachurin interaction with dystroglycan is diminished by defective
            O-mannosyl glycosylation in congenital muscular dystrophy models
            and rescued by LARGE overexpression
  JOURNAL   Neurosci Lett 489 (1), 10-15 (2011)
   PUBMED   21129441
REFERENCE   8  (residues 1 to 1009)
  AUTHORS   Gu,X.H., Lu,Y., Ma,D., Liu,X.S. and Guo,S.W.
  TITLE     [Model of aberrant DNA methylation patterns and its applications in
            epithelial ovarian cancer.]
  JOURNAL   Zhonghua Fu Chan Ke Za Zhi 44 (10), 754-759 (2009)
   PUBMED   20078962
REFERENCE   9  (residues 1 to 1009)
  AUTHORS   Sato,S., Omori,Y., Katoh,K., Kondo,M., Kanagawa,M., Miyata,K.,
            Funabiki,K., Koyasu,T., Kajimura,N., Miyoshi,T., Sawai,H.,
            Kobayashi,K., Tani,A., Toda,T., Usukura,J., Tano,Y., Fujikado,T.
            and Furukawa,T.
  TITLE     Pikachurin, a dystroglycan ligand, is essential for photoreceptor
            ribbon synapse formation
  JOURNAL   Nat Neurosci 11 (8), 923-931 (2008)
   PUBMED   18641643
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010338.7, AC091839.2 and AC010457.7.
            
            On Aug 7, 2003 this sequence version replaced NP_689616.1.
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC063822.1, AK291602.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322350.10/ ENSP00000313084.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1009
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2-p13.1"
     Protein         1..1009
                     /product="pikachurin isoform 1 precursor"
                     /note="pikachurin; agrin-like protein; EGF-like,
                     fibronectin type-III and laminin G-like domain-containing
                     protein"
                     /calculated_mol_wt=107897
     sig_peptide     1..24
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2465
     Region          36..133
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            47
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q63HQ2.2)"
     Site            order(122..123,125..126)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          142..234
                     /region_name="FN3"
                     /note="Fibronectin type 3 domain; One of three types of
                     internal repeats found in the plasma protein fibronectin.
                     Its tenth fibronectin type III repeat contains an RGD cell
                     recognition sequence in a flexible loop between 2 strands.
                     Approximately 2% of all...; cd00063"
                     /db_xref="CDD:238020"
     Site            order(142,208,223)
                     /site_type="active"
                     /note="Interdomain contacts [active]"
                     /db_xref="CDD:238020"
     Site            order(224..225,227..228)
                     /site_type="active"
                     /note="Cytokine receptor motif [active]"
                     /db_xref="CDD:238020"
     Region          391..541
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          560..602
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Site            order(560,563,582)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:238011"
     Region          618..765
                     /region_name="LamG"
                     /note="Laminin G domain; Laminin G-like domains are
                     usually Ca++ mediated receptors that can have binding
                     sites for steroids, beta1 integrins, heparin, sulfatides,
                     fibulin-1, and alpha-dystroglycans. Proteins that contain
                     LamG domains serve a variety of...; cd00110"
                     /db_xref="CDD:238058"
     Region          <792..820
                     /region_name="EGF_CA"
                     /note="Calcium-binding EGF-like domain, present in a large
                     number of membrane-bound and extracellular (mostly animal)
                     proteins. Many of these proteins require calcium for their
                     biological function and calcium-binding sites have been
                     found to be located at the...; cd00054"
                     /db_xref="CDD:238011"
     Region          860..985
                     /region_name="Laminin_G_2"
                     /note="Laminin G domain; pfam02210"
                     /db_xref="CDD:460494"
     CDS             1..1009
                     /gene="EGFLAM"
                     /gene_synonym="AGRINL; AGRNL; PIKA"
                     /coded_by="NM_152403.4:197..3226"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS3924.1"
                     /db_xref="GeneID:133584"
                     /db_xref="HGNC:HGNC:26810"
                     /db_xref="MIM:617683"
ORIGIN      
        1 mdlirgvllr llllasslgp gavslraair kpgkvgppld iklgalncta fsiqwkmprh
       61 pgspilgytv fysevgadks lqeqlhsvpl srdiptteev igdlkpgtey rvsiaaysqa
      121 gkgrlssprh vttlsqdscl ppaapqqphv ivvsdseval swkpgasegs apiqyysvef
      181 irpdfdkkwt siheriqmds mvikgldpdt nyqfavramn shgpsprswp sdiirtlcpe
      241 eagsgrygpr yitdmgaged degfeddldl disfeevkpl patkggnkkf lveskkmsis
      301 npktisrlip ptsaslpvtt vapqpipiqr kgkngvaims rlfdmpcdet lcsadsfcvn
      361 dytwggsrcq ctlgkggesc sediviqypq ffghsyvtfe plknsyqafq itlefraeae
      421 dglllycgen ehgrgdfmsl aiirrslqfr fncgtgvaii vsetkiklgg whtvmlyrdg
      481 lngllqlnng tpvtgqsqgq yskitfrtpl ylggapsayw lvratgtnrg fqgcvqslav
      541 ngrridmrpw plgkalsgad vgecssgicd eascihggtc taikadsyic lcplgfkgrh
      601 cedaftltip qfreslrsya atpwplepqh ylsfmefeit frpdsgdgvl lysydtgskd
      661 flsinlaggh vefrfdcgsg tgvlrsedpl tlgnwhelrv srtakngilq vdkqkivegm
      721 aeggftqikc ntdifiggvp nyddvkknsg vlkpfsgsiq kiilndrtih vkhdftsgvn
      781 venaahpcvr apcahggscr prkegydcdc plgfeglhcq kaiieaieip qfigrsylty
      841 dnpdilkrvs gsrsnvfmrf kttakdglll wrgdspmrpn sdfislglrd galvfsynlg
      901 sgvasimvng sfndgrwhrv kavrdgqsgk itvddygart gkspgmmrql ningalyvgg
      961 mkeialhtnr qymrglvgci shftlstdyh islvedavdg knintcgak
//
