Q58DX5 (NADL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
Short name=NAALADase L2

Gene names

Name:

NAALADL2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	795 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	proteolysis Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	peptidase 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 795	795	Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2		PRO_0000315721
Regions
	Topological domain	1 – 121	121	Cytoplasmic Potential
	Transmembrane	122 – 142	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	143 – 795	653	Extracellular Potential
Amino acid modifications
	Glycosylation	295	1	N-linked (GlcNAc...) Potential
	Glycosylation	373	1	N-linked (GlcNAc...) Potential
	Glycosylation	534	1	N-linked (GlcNAc...) Potential
	Glycosylation	759	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 17	17	Missing in isoform 2.		VSP_030676
	Alternative sequence	314 – 337	24	LSSLE…DLPKT → VGPVNVIQWFGQYFALFCWN YMLL in isoform 2.		VSP_030677
	Alternative sequence	338 – 795	458	Missing in isoform 2.		VSP_030678
	Natural variant	68	1	G → S. Ref.1 Ref.2 Corresponds to variant rs9823911 [ dbSNP | Ensembl ].		VAR_038288
	Natural variant	128	1	I → M. Ref.1 Ref.2 Corresponds to variant rs9836841 [ dbSNP | Ensembl ].		VAR_038289
	Natural variant	194	1	M → T. Corresponds to variant rs4371530 [ dbSNP | Ensembl ].		VAR_038290
	Natural variant	385	1	P → S. Ref.1 Ref.3 Corresponds to variant rs6802937 [ dbSNP | Ensembl ].		VAR_038291
	Natural variant	622	1	P → R. Ref.1 Ref.3 Corresponds to variant rs9866564 [ dbSNP | Ensembl ].		VAR_038292
	Natural variant	677	1	L → S. Ref.1 Ref.3 Corresponds to variant rs9826737 [ dbSNP | Ensembl ].		VAR_038293

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 7636F2627F4B6DAB	FASTA	795	88,682
	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
	Isoform 2 [UniParc]. Checksum: 20904076ECA787E2	FASTA	320	36,220
	10 20 30 40 50 60 MAYQKVHADQ RAPGHSQYLD NDDLQATALD LEWDMEKELE ESGFDQFQLD GAENQNLGHS 70 80 90 100 110 120 ETIDLNLDSI QPATSPKGRF QRLQEESDYI THYTRSAPKS NRCNFCHVLK ILCTATILFI 130 140 150 160 170 180 FGILIGYYVH TNCPSDAPSS GTVDPQLYQE ILKTIQAEDI KKSFRNLVQL YKNEDDMEIS 190 200 210 220 230 240 KKIKTQWTSL GLEDVQFVNY SVLLDLPGPS PSTVTLSSSG QCFHPNGQPC SEEARKDSSQ 250 260 270 280 290 300 DLLYSYAAYS AKGTLKAEVI DVSYGMADDL KRIRKIKNVT NQIALLKLGK LPLLYKVGPV 310 320 NVIQWFGQYF ALFCWNYMLL

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00434770. IPI00477389.
RefSeq	NP_996898.2. NM_207015.2.
UniGene	Hs.565848. Hs.603646. Hs.660010.
3D structure databases
ProteinModelPortal	Q58DX5.
SMR	Q58DX5. Positions 166-734.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000404705.
Protein family/group databases
MEROPS	M28.975.
PTM databases
PhosphoSite	Q58DX5.
Polymorphism databases
DMDM	296439292.
Proteomic databases
PaxDb	Q58DX5.
PRIDE	Q58DX5.
Protocols and materials databases
DNASU	254827.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000454872; ENSP00000404705; ENSG00000177694.
GeneID	254827.
KEGG	hsa:254827.
UCSC	uc003fit.3. human.
Organism-specific databases
CTD	254827.
GeneCards	GC03P174156.
H-InvDB	HIX0019070.
HGNC	HGNC:23219. NAALADL2.
HPA	CAB025586. HPA012413. HPA017425.
MIM	608806. gene.
neXtProt	NX_Q58DX5.
PharmGKB	PA142671295.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG304285.
HOGENOM	HOG000169973.
InParanoid	Q58DX5.
OMA	NILYHLD.
OrthoDB	EOG4TMR2Z.
Gene expression databases
ArrayExpress	Q58DX5.
Bgee	Q58DX5.
CleanEx	HS_NAALADL2.
Genevestigator	Q58DX5.
Family and domain databases
InterPro	IPR007484. Peptidase_M28. IPR007365. TFR-like_dimer_dom. [Graphical view]
Pfam	PF04389. Peptidase_M28. 1 hit. [Graphical view]
SUPFAM	SSF47672. Transferrin_rcpt-like_dimerise. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	NAALADL2. human.
GenomeRNAi	254827.
NextBio	92398.
SOURCE	Search...

Entry information

Entry name

NADL2_HUMAN

Accession

Primary (citable) accession number: Q58DX5
Secondary accession number(s): Q658X9 , Q6H9J8, Q6H9J9, Q6PG38

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	May 18, 2010
Last modified:	May 29, 2013
This is version 67 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.