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Q58DX5 (NADL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2

Short name=NAALADase L2
Gene names
Name:NAALADL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length795 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be catalytically inactive.

Subcellular location

Membrane; Single-pass type II membrane protein Potential.

Tissue specificity

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

Miscellaneous

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

Sequence similarities

Belongs to the peptidase M28 family. M28B subfamily.

Caution

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

Sequence caution

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.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processproteolysis

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionpeptidase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q58DX5-1)

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.
Isoform 2 (identifier: Q58DX5-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 795795Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
PRO_0000315721

Regions

Topological domain1 – 121121Cytoplasmic Potential
Transmembrane122 – 14221Helical; Signal-anchor for type II membrane protein; Potential
Topological domain143 – 795653Extracellular Potential

Amino acid modifications

Glycosylation2951N-linked (GlcNAc...) Potential
Glycosylation3731N-linked (GlcNAc...) Potential
Glycosylation5341N-linked (GlcNAc...) Potential
Glycosylation7591N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 1717Missing in isoform 2.
VSP_030676
Alternative sequence314 – 33724LSSLE…DLPKT → VGPVNVIQWFGQYFALFCWN YMLL in isoform 2.
VSP_030677
Alternative sequence338 – 795458Missing in isoform 2.
VSP_030678
Natural variant681G → S. Ref.1 Ref.2
Corresponds to variant rs9823911 [ dbSNP | Ensembl ].
VAR_038288
Natural variant1281I → M. Ref.1 Ref.2
Corresponds to variant rs9836841 [ dbSNP | Ensembl ].
VAR_038289
Natural variant1941M → T.
Corresponds to variant rs4371530 [ dbSNP | Ensembl ].
VAR_038290
Natural variant3851P → S. Ref.1 Ref.3
Corresponds to variant rs6802937 [ dbSNP | Ensembl ].
VAR_038291
Natural variant6221P → R. Ref.1 Ref.3
Corresponds to variant rs9866564 [ dbSNP | Ensembl ].
VAR_038292
Natural variant6771L → S. Ref.1 Ref.3
Corresponds to variant rs9826737 [ dbSNP | Ensembl ].
VAR_038293

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 7636F2627F4B6DAB

FASTA79588,682
        10         20         30         40         50         60 
MGENEASLPN TSLQGKKMAY QKVHADQRAP GHSQYLDNDD LQATALDLEW DMEKELEESG 

        70         80         90        100        110        120 
FDQFQLDGAE NQNLGHSETI DLNLDSIQPA TSPKGRFQRL QEESDYITHY TRSAPKSNRC 

       130        140        150        160        170        180 
NFCHVLKILC TATILFIFGI LIGYYVHTNC PSDAPSSGTV DPQLYQEILK TIQAEDIKKS 

       190        200        210        220        230        240 
FRNLVQLYKN EDDMEISKKI KTQWTSLGLE DVQFVNYSVL LDLPGPSPST VTLSSSGQCF 

       250        260        270        280        290        300 
HPNGQPCSEE ARKDSSQDLL YSYAAYSAKG TLKAEVIDVS YGMADDLKRI RKIKNVTNQI 

       310        320        330        340        350        360 
ALLKLGKLPL LYKLSSLEKA GFGGVLLYID PCDLPKTVNP SHDTFMVSLN PGGDPSTPGY 

       370        380        390        400        410        420 
PSVDESFRQS RSNLTSLLVQ PISAPLVAKL ISSPKARTKN EACSSLELPN NEIRVVSMQV 

       430        440        450        460        470        480 
QTVTKLKTVT NVVGFVMGLT SPDRYIIVGS HHHTAHSYNG QEWASSTAII TAFIRALMSK 

       490        500        510        520        530        540 
VKRGWRPDRT IVFCSWGGTA FGNIGSYEWG EDFKKVLQKN VVAYISLHSP IRGNSSLYPV 

       550        560        570        580        590        600 
ASPSLQQLVV EKNNFNCTRR AQCPETNISS IQIQGDADYF INHLGVPIVQ FAYEDIKTLE 

       610        620        630        640        650        660 
GPSFLSEARF STRATKIEEM DPSFNLHETI TKLSGEVILQ IANEPVLPFN ALDIALEVQN 

       670        680        690        700        710        720 
NLKGDQPNTH QLLAMALRLR ESAELFQSDE MRPANDPKER APIRIRMLND ILQDMEKSFL 

       730        740        750        760        770        780 
VKQAPPGFYR NILYHLDEKT SRFSILIEAW EHCKPLASNE TLQEALSEVL NSINSAQVYF 

       790 
KAGLDVFKSV LDGKN 

« Hide

Isoform 2 [UniParc].

Checksum: 20904076ECA787E2
Show »

FASTA32036,220

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 277-795, VARIANTS SER-385; ARG-622 AND SER-677.
Tissue: Stomach.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_996898.2. NM_207015.2.
UniGeneHs.565848.
Hs.603646.
Hs.660010.

3D structure databases

ProteinModelPortalQ58DX5.
SMRQ58DX5. Positions 165-790.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129052. 2 interactions.
STRING9606.ENSP00000404705.

Protein family/group databases

MEROPSM28.975.

PTM databases

PhosphoSiteQ58DX5.

Polymorphism databases

DMDM296439292.

Proteomic databases

PaxDbQ58DX5.
PRIDEQ58DX5.

Protocols and materials databases

DNASU254827.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000454872; ENSP00000404705; ENSG00000177694. [Q58DX5-1]
GeneID254827.
KEGGhsa:254827.
UCSCuc003fit.3. human. [Q58DX5-1]

Organism-specific databases

CTD254827.
GeneCardsGC03P174156.
H-InvDBHIX0019070.
HGNCHGNC:23219. NAALADL2.
HPACAB025586.
HPA012413.
HPA017425.
MIM608806. gene.
neXtProtNX_Q58DX5.
PharmGKBPA142671295.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304285.
HOGENOMHOG000169973.
InParanoidQ58DX5.
OMANILYHLD.
OrthoDBEOG7BCNBR.
PhylomeDBQ58DX5.
TreeFamTF312981.

Gene expression databases

ArrayExpressQ58DX5.
BgeeQ58DX5.
CleanExHS_NAALADL2.
GenevestigatorQ58DX5.

Family and domain databases

InterProIPR007484. Peptidase_M28.
IPR007365. TFR-like_dimer_dom.
[Graphical view]
PfamPF04389. Peptidase_M28. 1 hit.
[Graphical view]
SUPFAMSSF47672. SSF47672. 1 hit.
ProtoNetSearch...

Other

ChiTaRSNAALADL2. human.
GenomeRNAi254827.
NextBio92398.
PROQ58DX5.
SOURCESearch...

Entry information

Entry nameNADL2_HUMAN
AccessionPrimary (citable) accession number: Q58DX5
Secondary accession number(s): Q658X9 expand/collapse secondary AC list , Q6H9J8, Q6H9J9, Q6PG38
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 75 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM