LOCUS       NP_996898                795 aa            linear   PRI 03-OCT-2024
DEFINITION  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein
            2 [Homo sapiens].
ACCESSION   NP_996898
VERSION     NP_996898.2
DBSOURCE    REFSEQ: accession NM_207015.3
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 795)
  AUTHORS   Kim,S.W., Jung,Y.S., Ahn,J.B., Shin,E.S., Jang,H.W., Lee,H.J., Il
            Kim,T., Kim,D.Y., Bang,D., Kim,W.H. and Cheon,J.H.
  TITLE     Identification of genetic susceptibility loci for intestinal
            Behcet's disease
  JOURNAL   Sci Rep 7, 39850 (2017)
   PUBMED   28045058
  REMARK    GeneRIF: GWAS showed intestinal Behcet's disease-specific
            associations with YIPF7 gene locus rs6838327.  Down-regulation of
            YIPF7 expression was associated with exacerbating intestinal
            inflammatory responses both in vitro and in vivo.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 795)
  AUTHORS   Whitaker,H.C., Shiong,L.L., Kay,J.D., Gronberg,H., Warren,A.Y.,
            Seipel,A., Wiklund,F., Thomas,B., Wiklund,P., Miller,J.L.,
            Menon,S., Ramos-Montoya,A., Vowler,S.L., Massie,C., Egevad,L. and
            Neal,D.E.
  TITLE     N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 is overexpressed
            in cancer and promotes a pro-migratory and pro-metastatic phenotype
  JOURNAL   Oncogene 33 (45), 5274-5287 (2014)
   PUBMED   24240687
  REMARK    GeneRIF: Data suggest that changes in expression of
            N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 (NAALADL2) can
            impact upon a number of pro-oncogenic pathways and processes,
            making it a useful biomarker for both diagnosis and prognosis.
REFERENCE   3  (residues 1 to 795)
  AUTHORS   Winham,S.J., Cuellar-Barboza,A.B., Oliveros,A., McElroy,S.L.,
            Crow,S., Colby,C., Choi,D.S., Chauhan,M., Frye,M. and
            Biernacka,J.M.
  TITLE     Genome-wide association study of bipolar disorder accounting for
            effect of body mass index identifies a new risk allele in TCF7L2
  JOURNAL   Mol Psychiatry 19 (9), 1010-1016 (2014)
   PUBMED   24322204
REFERENCE   4  (residues 1 to 795)
  AUTHORS   Luykx,J.J., Bakker,S.C., Lentjes,E., Neeleman,M., Strengman,E.,
            Mentink,L., DeYoung,J., de Jong,S., Sul,J.H., Eskin,E., van
            Eijk,K., van Setten,J., Buizer-Voskamp,J.E., Cantor,R.M., Lu,A.,
            van Amerongen,M., van Dongen,E.P., Keijzers,P., Kappen,T.,
            Borgdorff,P., Bruins,P., Derks,E.M., Kahn,R.S. and Ophoff,R.A.
  TITLE     Genome-wide association study of monoamine metabolite levels in
            human cerebrospinal fluid
  JOURNAL   Mol Psychiatry 19 (2), 228-234 (2014)
   PUBMED   23319000
REFERENCE   5  (residues 1 to 795)
  AUTHORS   Byrne,E.M., Gehrman,P.R., Medland,S.E., Nyholt,D.R., Heath,A.C.,
            Madden,P.A., Hickie,I.B., Van Duijn,C.M., Henders,A.K.,
            Montgomery,G.W., Martin,N.G. and Wray,N.R.
  CONSRTM   Chronogen Consortium
  TITLE     A genome-wide association study of sleep habits and insomnia
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (5), 439-451 (2013)
   PUBMED   23728906
REFERENCE   6  (residues 1 to 795)
  AUTHORS   Greliche,N., Germain,M., Lambert,J.C., Cohen,W., Bertrand,M.,
            Dupuis,A.M., Letenneur,L., Lathrop,M., Amouyel,P., Morange,P.E. and
            Tregouet,D.A.
  TITLE     A genome-wide search for common SNP x SNP interactions on the risk
            of venous thrombosis
  JOURNAL   BMC Med Genet 14, 36 (2013)
   PUBMED   23509962
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 795)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   8  (residues 1 to 795)
  AUTHORS   Chung,S.A., Taylor,K.E., Graham,R.R., Nititham,J., Lee,A.T.,
            Ortmann,W.A., Jacob,C.O., Alarcon-Riquelme,M.E., Tsao,B.P.,
            Harley,J.B., Gaffney,P.M., Moser,K.L., Petri,M., Demirci,F.Y.,
            Kamboh,M.I., Manzi,S., Gregersen,P.K., Langefeld,C.D., Behrens,T.W.
            and Criswell,L.A.
  CONSRTM   SLEGEN
  TITLE     Differential genetic associations for systemic lupus erythematosus
            based on anti-dsDNA autoantibody production
  JOURNAL   PLoS Genet 7 (3), e1001323 (2011)
   PUBMED   21408207
REFERENCE   9  (residues 1 to 795)
  AUTHORS   Burgner,D., Davila,S., Breunis,W.B., Ng,S.B., Li,Y., Bonnard,C.,
            Ling,L., Wright,V.J., Thalamuthu,A., Odam,M., Shimizu,C.,
            Burns,J.C., Levin,M., Kuijpers,T.W. and Hibberd,M.L.
  CONSRTM   International Kawasaki Disease Genetics Consortium
  TITLE     A genome-wide association study identifies novel and functionally
            related susceptibility Loci for Kawasaki disease
  JOURNAL   PLoS Genet 5 (1), e1000319 (2009)
   PUBMED   19132087
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   10 (residues 1 to 795)
  AUTHORS   Tonkin,E.T., Smith,M., Eichhorn,P., Jones,S., Imamwerdi,B.,
            Lindsay,S., Jackson,M., Wang,T.J., Ireland,M., Burn,J.,
            Krantz,I.D., Carr,P. and Strachan,T.
  TITLE     A giant novel gene undergoing extensive alternative splicing is
            severed by a Cornelia de Lange-associated translocation breakpoint
            at 3q26.3
  JOURNAL   Hum Genet 115 (2), 139-148 (2004)
   PUBMED   15168106
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AJ607396.1, AL832144.1, AC008180.15, AC083804.13, AC119040.5 and
            AC104150.6.
            
            On Feb 24, 2007 this sequence version replaced NP_996898.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL832144.1, BN000432.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000454872.6/ ENSP00000404705.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..795
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.31"
     Protein         1..795
                     /product="inactive N-acetylated-alpha-linked acidic
                     dipeptidase-like protein 2"
                     /EC_number="3.4.17.21"
                     /note="N-acetylated alpha-linked acidic dipeptidase 2;
                     NAALADase L2; glutamate carboxypeptidase II-type
                     non-peptidase homologue"
                     /calculated_mol_wt=88551
     Region          1..38
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q58DX5.3)"
     Site            92
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q58DX5.3)"
     Site            122..142
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q58DX5.3)"
     Region          258..410
                     /region_name="PA"
                     /note="Protease-associated (PA) domain. The PA domain is
                     an insert domain in a diverse fraction of proteases. The
                     significance of the PA domain to many of the proteins in
                     which it is inserted is undetermined. It may be a
                     protein-protein interaction domain. At...; cl28883"
                     /db_xref="CDD:333703"
     Site            295
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q58DX5.3)"
     Site            344..346
                     /site_type="other"
                     /note="PA/protease or protease-like domain interface
                     [polypeptide binding]"
                     /db_xref="CDD:238300"
     Site            373
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q58DX5.3)"
     Region          427..648
                     /region_name="M28_PMSA_TfR_like"
                     /note="M28 Zn-peptidase Transferrin Receptor-like family;
                     cd03874"
                     /db_xref="CDD:349871"
     Site            order(442..443,445,490,492,511..512,514,516..519,645)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:349871"
     Site            534
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q58DX5.3)"
     Region          668..781
                     /region_name="TFR_dimer"
                     /note="Transferrin receptor-like dimerization domain;
                     pfam04253"
                     /db_xref="CDD:461238"
     Site            759
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q58DX5.3)"
     CDS             1..795
                     /gene="NAALADL2"
                     /coded_by="NM_207015.3:75..2462"
                     /db_xref="CCDS:CCDS46960.1"
                     /db_xref="GeneID:254827"
                     /db_xref="HGNC:HGNC:23219"
                     /db_xref="MIM:608806"
ORIGIN      
        1 mgeneaslpn tslqgkkmay qkvhadqrap ghsqyldndd lqataldlew dmekeleesg
       61 fdqfqldgae nqnlghseti dlnldsiqpa tspkgrfqrl qeesdyithy trsapksnrc
      121 nfchvlkilc tatilfifgi ligyyvhtnc psdapssgtv dpqlyqeilk tiqaedikks
      181 frnlvqlykn eddmeiskki ktqwtslgle dvqfvnysvl ldlpgpspst vtlsssgqcf
      241 hpngqpcsee arkdssqdll ysyaaysakg tlkaevidvs ygmaddlkri rkiknvtnqi
      301 allklgklpl lyklssleka gfggvllyid pcdlpktvnp shdtfmvsln pggdpstpgy
      361 psvdesfrqs rsnltsllvq pisaplvakl isspkartkn eacsslelpn neirvvsmqv
      421 qtvtklktvt nvvgfvmglt spdryiivgs hhhtahsyng qewasstaii tafiralmsk
      481 vkrgwrpdrt ivfcswggta fgnigsyewg edfkkvlqkn vvayislhsp irgnsslypv
      541 aspslqqlvv eknnfnctrr aqcpetniss iqiqgdadyf inhlgvpivq fayediktle
      601 gpsflsearf stratkieem dpsfnlheti tklsgevilq ianepvlpfn aldialevqn
      661 nlkgdqpnth qllamalrlr esaelfqsde mrpandpker apirirmlnd ilqdmeksfl
      721 vkqappgfyr nilyhldekt srfsilieaw ehckplasne tlqealsevl nsinsaqvyf
      781 kagldvfksv ldgkn
//
