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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.

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 – 121121CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei122 – 14221Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini143 – 795653ExtracellularSequence AnalysisAdd
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 2PRO_0000315721Add
BLAST

Amino acid modifications

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

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

BgeeiQ58DX5.
CleanExiHS_NAALADL2.
ExpressionAtlasiQ58DX5. baseline and differential.
GenevestigatoriQ58DX5.

Organism-specific databases

HPAiCAB025586.
HPA012413.
HPA017425.

Interactioni

Protein-protein interaction databases

BioGridi129052. 12 interactions.
STRINGi9606.ENSP00000404705.

Structurei

3D structure databases

ProteinModelPortaliQ58DX5.
SMRiQ58DX5. Positions 166-734.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M28 family. M28B subfamily.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG304285.
GeneTreeiENSGT00550000074421.
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

        10         20         30         40         50
MGENEASLPN TSLQGKKMAY QKVHADQRAP GHSQYLDNDD LQATALDLEW
60 70 80 90 100
DMEKELEESG FDQFQLDGAE NQNLGHSETI DLNLDSIQPA TSPKGRFQRL
110 120 130 140 150
QEESDYITHY TRSAPKSNRC NFCHVLKILC TATILFIFGI LIGYYVHTNC
160 170 180 190 200
PSDAPSSGTV DPQLYQEILK TIQAEDIKKS FRNLVQLYKN EDDMEISKKI
210 220 230 240 250
KTQWTSLGLE DVQFVNYSVL LDLPGPSPST VTLSSSGQCF HPNGQPCSEE
260 270 280 290 300
ARKDSSQDLL YSYAAYSAKG TLKAEVIDVS YGMADDLKRI RKIKNVTNQI
310 320 330 340 350
ALLKLGKLPL LYKLSSLEKA GFGGVLLYID PCDLPKTVNP SHDTFMVSLN
360 370 380 390 400
PGGDPSTPGY PSVDESFRQS RSNLTSLLVQ PISAPLVAKL ISSPKARTKN
410 420 430 440 450
EACSSLELPN NEIRVVSMQV QTVTKLKTVT NVVGFVMGLT SPDRYIIVGS
460 470 480 490 500
HHHTAHSYNG QEWASSTAII TAFIRALMSK VKRGWRPDRT IVFCSWGGTA
510 520 530 540 550
FGNIGSYEWG EDFKKVLQKN VVAYISLHSP IRGNSSLYPV ASPSLQQLVV
560 570 580 590 600
EKNNFNCTRR AQCPETNISS IQIQGDADYF INHLGVPIVQ FAYEDIKTLE
610 620 630 640 650
GPSFLSEARF STRATKIEEM DPSFNLHETI TKLSGEVILQ IANEPVLPFN
660 670 680 690 700
ALDIALEVQN NLKGDQPNTH QLLAMALRLR ESAELFQSDE MRPANDPKER
710 720 730 740 750
APIRIRMLND ILQDMEKSFL VKQAPPGFYR NILYHLDEKT SRFSILIEAW
760 770 780 790
EHCKPLASNE TLQEALSEVL NSINSAQVYF KAGLDVFKSV LDGKN
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.Curated
The sequence CAH56310.1 differs from that shown. Reason: Frameshift at positions 509 and 518. Curated

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. 2 PublicationsVSP_030676Add
BLAST
Alternative sequencei314 – 33724LSSLE…DLPKT → VGPVNVIQWFGQYFALFCWN YMLL in isoform 2. 2 PublicationsVSP_030677Add
BLAST
Alternative sequencei338 – 795458Missing in isoform 2. 2 PublicationsVSP_030678Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129052. 12 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-InvDB HIX0019070.
HGNCi HGNC:23219. NAALADL2.
HPAi CAB025586.
HPA012413.
HPA017425.
MIMi 608806. gene.
neXtProti NX_Q58DX5.
PharmGKBi PA142671295.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG304285.
GeneTreei ENSGT00550000074421.
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

Bgeei Q58DX5.
CleanExi HS_NAALADL2.
ExpressionAtlasi Q58DX5. baseline and differential.
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: November 26, 2014
This is version 81 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, PubMed:15168106 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.Curated

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