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Q58DX5

- NADL2_HUMAN

UniProt

Q58DX5 - NADL2_HUMAN

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Protein
Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
Gene
NAALADL2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

May be catalytically inactive.

GO - Molecular functioni

  1. peptidase activity Source: InterPro
Complete GO annotation...

GO - Biological processi

    Complete GO annotation...

    Protein family/group databases

    MEROPSiM28.975.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
    Short name:
    NAALADase L2
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:23219. NAALADL2.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 121121Cytoplasmic Reviewed prediction
    Add
    BLAST
    Transmembranei122 – 14221Helical; Signal-anchor for type II membrane protein; Reviewed prediction
    Add
    BLAST
    Topological domaini143 – 795653Extracellular Reviewed prediction
    Add
    BLAST

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    Complete GO annotation...

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671295.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 795795Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
    PRO_0000315721Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi295 – 2951N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi373 – 3731N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi534 – 5341N-linked (GlcNAc...) Reviewed prediction
    Glycosylationi759 – 7591N-linked (GlcNAc...) Reviewed prediction

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ58DX5.
    PaxDbiQ58DX5.
    PRIDEiQ58DX5.

    PTM databases

    PhosphoSiteiQ58DX5.

    Expressioni

    Tissue specificityi

    Expressed at higher level in kidney and placenta. In embryo, it is mainly confined to duodenal and stomach endoderm, mesonephros, metanephros and pancreas.

    Gene expression databases

    ArrayExpressiQ58DX5.
    BgeeiQ58DX5.
    CleanExiHS_NAALADL2.
    GenevestigatoriQ58DX5.

    Organism-specific databases

    HPAiCAB025586.
    HPA012413.
    HPA017425.

    Interactioni

    Protein-protein interaction databases

    BioGridi129052. 2 interactions.
    STRINGi9606.ENSP00000404705.

    Structurei

    3D structure databases

    ProteinModelPortaliQ58DX5.
    SMRiQ58DX5. Positions 166-734.

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG304285.
    HOGENOMiHOG000169973.
    InParanoidiQ58DX5.
    OMAiNILYHLD.
    OrthoDBiEOG7BCNBR.
    PhylomeDBiQ58DX5.
    TreeFamiTF312981.

    Family and domain databases

    InterProiIPR007484. Peptidase_M28.
    IPR007365. TFR-like_dimer_dom.
    [Graphical view]
    PfamiPF04389. Peptidase_M28. 1 hit.
    [Graphical view]
    SUPFAMiSSF47672. SSF47672. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q58DX5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGENEASLPN TSLQGKKMAY QKVHADQRAP GHSQYLDNDD LQATALDLEW    50
    DMEKELEESG FDQFQLDGAE NQNLGHSETI DLNLDSIQPA TSPKGRFQRL 100
    QEESDYITHY TRSAPKSNRC NFCHVLKILC TATILFIFGI LIGYYVHTNC 150
    PSDAPSSGTV DPQLYQEILK TIQAEDIKKS FRNLVQLYKN EDDMEISKKI 200
    KTQWTSLGLE DVQFVNYSVL LDLPGPSPST VTLSSSGQCF HPNGQPCSEE 250
    ARKDSSQDLL YSYAAYSAKG TLKAEVIDVS YGMADDLKRI RKIKNVTNQI 300
    ALLKLGKLPL LYKLSSLEKA GFGGVLLYID PCDLPKTVNP SHDTFMVSLN 350
    PGGDPSTPGY PSVDESFRQS RSNLTSLLVQ PISAPLVAKL ISSPKARTKN 400
    EACSSLELPN NEIRVVSMQV QTVTKLKTVT NVVGFVMGLT SPDRYIIVGS 450
    HHHTAHSYNG QEWASSTAII TAFIRALMSK VKRGWRPDRT IVFCSWGGTA 500
    FGNIGSYEWG EDFKKVLQKN VVAYISLHSP IRGNSSLYPV ASPSLQQLVV 550
    EKNNFNCTRR AQCPETNISS IQIQGDADYF INHLGVPIVQ FAYEDIKTLE 600
    GPSFLSEARF STRATKIEEM DPSFNLHETI TKLSGEVILQ IANEPVLPFN 650
    ALDIALEVQN NLKGDQPNTH QLLAMALRLR ESAELFQSDE MRPANDPKER 700
    APIRIRMLND ILQDMEKSFL VKQAPPGFYR NILYHLDEKT SRFSILIEAW 750
    EHCKPLASNE TLQEALSEVL NSINSAQVYF KAGLDVFKSV LDGKN 795
    Length:795
    Mass (Da):88,682
    Last modified:May 18, 2010 - v3
    Checksum:i7636F2627F4B6DAB
    GO
    Isoform 2 (identifier: Q58DX5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: Missing.
         314-337: LSSLEKAGFGGVLLYIDPCDLPKT → VGPVNVIQWFGQYFALFCWNYMLL
         338-795: Missing.

    Show »
    Length:320
    Mass (Da):36,220
    Checksum:i20904076ECA787E2
    GO

    Sequence cautioni

    The sequence CAE54974.2 differs from that shown. Reason: Contaminating sequence at the C-terminus.
    The sequence CAH56310.1 differs from that shown. Reason: Frameshift at positions 509 and 518.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681G → S.2 Publications
    Corresponds to variant rs9823911 [ dbSNP | Ensembl ].
    VAR_038288
    Natural varianti128 – 1281I → M.2 Publications
    Corresponds to variant rs9836841 [ dbSNP | Ensembl ].
    VAR_038289
    Natural varianti194 – 1941M → T.
    Corresponds to variant rs4371530 [ dbSNP | Ensembl ].
    VAR_038290
    Natural varianti385 – 3851P → S.2 Publications
    Corresponds to variant rs6802937 [ dbSNP | Ensembl ].
    VAR_038291
    Natural varianti622 – 6221P → R.2 Publications
    Corresponds to variant rs9866564 [ dbSNP | Ensembl ].
    VAR_038292
    Natural varianti677 – 6771L → S.2 Publications
    Corresponds to variant rs9826737 [ dbSNP | Ensembl ].
    VAR_038293

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1717Missing in isoform 2.
    VSP_030676Add
    BLAST
    Alternative sequencei314 – 33724LSSLE…DLPKT → VGPVNVIQWFGQYFALFCWN YMLL in isoform 2.
    VSP_030677Add
    BLAST
    Alternative sequencei338 – 795458Missing in isoform 2.
    VSP_030678Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ607395 Genomic DNA. Translation: CAE54973.1.
    AJ607396 mRNA. Translation: CAE54974.2. Sequence problems.
    BC057243 mRNA. Translation: AAH57243.1.
    AL832931 mRNA. Translation: CAH56310.1. Frameshift.
    BN000432 mRNA. Translation: CAE75743.1.
    CCDSiCCDS46960.1. [Q58DX5-1]
    RefSeqiNP_996898.2. NM_207015.2. [Q58DX5-1]
    UniGeneiHs.565848.
    Hs.603646.
    Hs.660010.

    Genome annotation databases

    EnsembliENST00000454872; ENSP00000404705; ENSG00000177694. [Q58DX5-1]
    GeneIDi254827.
    KEGGihsa:254827.
    UCSCiuc003fit.3. human. [Q58DX5-1]

    Polymorphism databases

    DMDMi296439292.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ607395 Genomic DNA. Translation: CAE54973.1 .
    AJ607396 mRNA. Translation: CAE54974.2 . Sequence problems.
    BC057243 mRNA. Translation: AAH57243.1 .
    AL832931 mRNA. Translation: CAH56310.1 . Frameshift.
    BN000432 mRNA. Translation: CAE75743.1 .
    CCDSi CCDS46960.1. [Q58DX5-1 ]
    RefSeqi NP_996898.2. NM_207015.2. [Q58DX5-1 ]
    UniGenei Hs.565848.
    Hs.603646.
    Hs.660010.

    3D structure databases

    ProteinModelPortali Q58DX5.
    SMRi Q58DX5. Positions 166-734.
    ModBasei Search...

    Protein-protein interaction databases

    BioGridi 129052. 2 interactions.
    STRINGi 9606.ENSP00000404705.

    Protein family/group databases

    MEROPSi M28.975.

    PTM databases

    PhosphoSitei Q58DX5.

    Polymorphism databases

    DMDMi 296439292.

    Proteomic databases

    MaxQBi Q58DX5.
    PaxDbi Q58DX5.
    PRIDEi Q58DX5.

    Protocols and materials databases

    DNASUi 254827.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000454872 ; ENSP00000404705 ; ENSG00000177694 . [Q58DX5-1 ]
    GeneIDi 254827.
    KEGGi hsa:254827.
    UCSCi uc003fit.3. human. [Q58DX5-1 ]

    Organism-specific databases

    CTDi 254827.
    GeneCardsi GC03P174156.
    H-InvDBi HIX0019070.
    HGNCi HGNC:23219. NAALADL2.
    HPAi CAB025586.
    HPA012413.
    HPA017425.
    MIMi 608806. gene.
    neXtProti NX_Q58DX5.
    PharmGKBi PA142671295.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG304285.
    HOGENOMi HOG000169973.
    InParanoidi Q58DX5.
    OMAi NILYHLD.
    OrthoDBi EOG7BCNBR.
    PhylomeDBi Q58DX5.
    TreeFami TF312981.

    Miscellaneous databases

    ChiTaRSi NAALADL2. human.
    GenomeRNAii 254827.
    NextBioi 92398.
    PROi Q58DX5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q58DX5.
    Bgeei Q58DX5.
    CleanExi HS_NAALADL2.
    Genevestigatori Q58DX5.

    Family and domain databases

    InterProi IPR007484. Peptidase_M28.
    IPR007365. TFR-like_dimer_dom.
    [Graphical view ]
    Pfami PF04389. Peptidase_M28. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47672. SSF47672. 1 hit.
    ProtoNeti Search...

    Publicationsi

    « Hide 'large scale' publications
    1. "A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3."
      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., Strachan T.
      Hum. Genet. 115:139-148(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], NUCLEOTIDE SEQUENCE [MRNA] OF 1-291 (ISOFORM 2), IDENTIFICATION (ISOFORM 1), VARIANTS SER-68; MET-128; SER-385; ARG-622 AND SER-677.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS SER-68 AND MET-128.
      Tissue: Kidney.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 277-795, VARIANTS SER-385; ARG-622 AND SER-677.
      Tissue: Stomach.

    Entry informationi

    Entry nameiNADL2_HUMAN
    AccessioniPrimary (citable) accession number: Q58DX5
    Secondary accession number(s): Q658X9
    , Q6H9J8, Q6H9J9, Q6PG38
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: May 18, 2010
    Last modified: July 9, 2014
    This is version 78 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    The gene maps to 3q26.31, a region associated with Cornelia de Lange syndrome. However, 1 Publication failed to identify specific mutations in a panel of DNA samples from patients with Cornelia de Lange syndrome.

    Caution

    Although related to the peptidase M28 family, it lacks the conserved zinc-binding and active sites and therefore has probably lost hydrolase activity.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Peptidase families
      Classification of peptidase families and list of entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

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