Aliases for NAALADL1 Gene

Aliases for NAALADL1 Gene

  • N-Acetylated Alpha-Linked Acidic Dipeptidase Like 1 2 3 5
  • N-Acetylated-Alpha-Linked Acidic Dipeptidase-Like Protein 3 4
  • 100 KDa Ileum Brush Border Membrane Protein 3 4
  • Ileal Dipeptidylpeptidase 3 4
  • Aminopeptidase NAALADL1 3 4
  • Ileal Peptidase I100 2 3
  • NAALADase L 3 4
  • NAALADASEL 3 4
  • I100 3 4
  • Peptidase Homolog 3
  • EC 3.4.11.- 4
  • NAALADL1 5
  • NAALADL 4

External Ids for NAALADL1 Gene

Previous GeneCards Identifiers for NAALADL1 Gene

  • GC11M064588
  • GC11M064569
  • GC11M064812
  • GC11M061139

Summaries for NAALADL1 Gene

GeneCards Summary for NAALADL1 Gene

NAALADL1 (N-Acetylated Alpha-Linked Acidic Dipeptidase Like 1) is a Protein Coding gene. Diseases associated with NAALADL1 include Arthrogryposis, Distal, Type 4. Gene Ontology (GO) annotations related to this gene include peptidase activity and carboxypeptidase activity. An important paralog of this gene is FOLH1.

UniProtKB/Swiss-Prot Summary for NAALADL1 Gene

  • Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2' position, or Pro in the P3' position. Lacks activity with substrates that have both Pro in the P3' position and Asp or Glu in the P2' position (PubMed:25752612). Lacks carboxypeptidase activity. Lacks dipeptidyl-peptidase IV type activity (PubMed:25752612).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAALADL1 Gene

Genomics for NAALADL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NAALADL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J065047 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 250.4 +11.3 11319 1.4 RBFOX2 lnc-CDCA5-2 NAALADL1 SNX15 CDCA5 ZFPL1 VPS51 ENSG00000254501 TM7SF2 MAJIN HSALNG0084847
GH11J065470 Promoter/Enhancer 3.2 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 69.9 -431.1 -431125 40.1 CHD2 TBP ZBTB10 SP1 BCL11A MXD4 FEZF1 CEBPA NR2C1 MNT MALAT1 HSALNG0084901 LINC02736 SF1 POLA2 ZFPL1 PCNX3 MUS81 EIF1AD SART1
GH11J065058 Promoter 0.8 EPDnew 250.7 +0.5 466 0.1 SAP130 TEAD3 DMAP1 DRAP1 RBPJ ZNF48 NR2F6 RXRB TFAP4 HNF1A NAALADL1 piR-50437-080 SAC3D1
GH11J065414 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 48.9 -366.0 -365960 20.4 ZSCAN16 CHD2 ZBTB10 SP1 BCL11A MXD4 FEZF1 CEBPA NR2C1 FOXA1 NEAT1 ENSG00000277599 ENSG00000278050 ENSG00000278144 LOC107984338 lnc-LTBP3-2-001 SF1 ZFPL1 POLA2 EIF1AD
GH11J065048 Promoter 0.3 EPDnew 250.4 +10.5 10516 0.1 HSALNG0084850 lnc-CDCA5-1 lnc-CDCA5-2 NAALADL1 CDCA5 ZFPL1 VPS51 ENSG00000254501 TM7SF2 MAJIN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAALADL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAALADL1

Top Transcription factor binding sites by QIAGEN in the NAALADL1 gene promoter:
  • NF-1
  • STAT1
  • STAT3
  • STAT5A

Genomic Locations for NAALADL1 Gene

Latest Assembly
chr11:65,044,818-65,059,020
(GRCh38/hg38)
Size:
14,203 bases
Orientation:
Minus strand

Previous Assembly
chr11:64,812,290-64,826,025
(GRCh37/hg19 by Entrez Gene)
Size:
13,736 bases
Orientation:
Minus strand

chr11:64,812,290-64,826,021
(GRCh37/hg19 by Ensembl)
Size:
13,732 bases
Orientation:
Minus strand

Genomic View for NAALADL1 Gene

Genes around NAALADL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAALADL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAALADL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAALADL1 Gene

Proteins for NAALADL1 Gene

  • Protein details for NAALADL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQQ1-NALDL_HUMAN
    Recommended name:
    Aminopeptidase NAALADL1
    Protein Accession:
    Q9UQQ1
    Secondary Accessions:
    • C9J8A1
    • C9J964
    • C9JL35
    • C9JSN0
    • O43176

    Protein attributes for NAALADL1 Gene

    Size:
    740 amino acids
    Molecular mass:
    80558 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB87645.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAALADL1 Gene

    Alternative splice isoforms for NAALADL1 Gene

neXtProt entry for NAALADL1 Gene

Post-translational modifications for NAALADL1 Gene

  • N-glycosylated.
  • Glycosylation at Asn136, Asn274, Asn299, Asn334, Asn345, Asn451, and Asn492
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NAALADL1 Gene

Domains & Families for NAALADL1 Gene

Gene Families for NAALADL1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NAALADL1 Gene

InterPro:
Blocks:
  • Protease-associated PA
  • Transferrin receptor-like dimerisation domain
  • Peptidase family M28
ProtoNet:

Suggested Antigen Peptide Sequences for NAALADL1 Gene

GenScript: Design optimal peptide antigens:
  • Ileal dipeptidylpeptidase (NALDL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQQ1

UniProtKB/Swiss-Prot:

NALDL_HUMAN :
  • Belongs to the peptidase M28 family. M28B subfamily.
Family:
  • Belongs to the peptidase M28 family. M28B subfamily.
genes like me logo Genes that share domains with NAALADL1: view

Function for NAALADL1 Gene

Molecular function for NAALADL1 Gene

UniProtKB/Swiss-Prot Function:
Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2' position, or Pro in the P3' position. Lacks activity with substrates that have both Pro in the P3' position and Asp or Glu in the P2' position (PubMed:25752612). Lacks carboxypeptidase activity. Lacks dipeptidyl-peptidase IV type activity (PubMed:25752612).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by bestatin.

Enzyme Numbers (IUBMB) for NAALADL1 Gene

Phenotypes From GWAS Catalog for NAALADL1 Gene

Gene Ontology (GO) - Molecular Function for NAALADL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA,IDA 25752612
GO:0004180 carboxypeptidase activity IBA 21873635
GO:0005509 calcium ion binding IDA 25752612
GO:0008233 peptidase activity NAS 9388249
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with NAALADL1: view
genes like me logo Genes that share phenotypes with NAALADL1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for NAALADL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAALADL1

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NAALADL1 Gene

Localization for NAALADL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAALADL1 Gene

Apical cell membrane. Single-pass type II membrane protein. Note=Ileal brush border membrane. {ECO:0000250 UniProtKB:O54697}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAALADL1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NAALADL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 9388249
GO:0016324 apical plasma membrane ISS --
genes like me logo Genes that share ontologies with NAALADL1: view

Pathways & Interactions for NAALADL1 Gene

PathCards logo

SuperPathways for NAALADL1 Gene

No Data Available

Interacting Proteins for NAALADL1 Gene

Gene Ontology (GO) - Biological Process for NAALADL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0043171 peptide catabolic process IDA 25752612
genes like me logo Genes that share ontologies with NAALADL1: view

No data available for Pathways by source and SIGNOR curated interactions for NAALADL1 Gene

Drugs & Compounds for NAALADL1 Gene

(1) Drugs for NAALADL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Danazol Approved Pharma 30
genes like me logo Genes that share compounds with NAALADL1: view

Transcripts for NAALADL1 Gene

mRNA/cDNA for NAALADL1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAALADL1

Alternative Splicing Database (ASD) splice patterns (SP) for NAALADL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^
SP1: - - - - - -
SP2: - -
SP3: - - - - - -
SP4: - - - - -
SP5: -
SP6: - - - - - -
SP7:
SP8: - - -
SP9: - - -
SP10: - - - -

ExUns: 17 ^ 18a · 18b · 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for NAALADL1 Gene

GeneLoc Exon Structure for
NAALADL1

Expression for NAALADL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NAALADL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAALADL1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x17.5).

Protein differential expression in normal tissues from HIPED for NAALADL1 Gene

This gene is overexpressed in Colon muscle (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NAALADL1 Gene



Protein tissue co-expression partners for NAALADL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAALADL1

SOURCE GeneReport for Unigene cluster for NAALADL1 Gene:

Hs.13967

mRNA Expression by UniProt/SwissProt for NAALADL1 Gene:

Q9UQQ1-NALDL_HUMAN
Tissue specificity: Detected in small intestine (at protein level) (PubMed:25752612). Detected in ileum (PubMed:9388249). Detected in small intestine, spleen and testis. Isoform 2 and isoform 3 are found in the small intestine and colon (PubMed:10085079).

Evidence on tissue expression from TISSUES for NAALADL1 Gene

  • Intestine(4.4)
  • Lymph node(2.4)
  • Spleen(2.3)
  • Bone marrow(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with NAALADL1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NAALADL1 Gene

Orthologs for NAALADL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NAALADL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NAALADL1 30 31
  • 98.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NAALADL1 30 31
  • 84.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NAALADL1 30 31
  • 84.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Naaladl1 30
  • 81.44 (n)
Mouse
(Mus musculus)
Mammalia Naaladl1 30 17 31
  • 81.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NAALADL1 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 23 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia NAALADL1 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487005 30
  • 60.35 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24489 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-214j8.1 30
  • 57.97 (n)
NAALADL1 31
  • 56 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea gcp-2.2 31
  • 29 (a)
ManyToMany
gcp-2.1 31
  • 29 (a)
ManyToMany
gcp-2.3 31
  • 27 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS70 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3946 31
  • 34 (a)
OneToOne
Species where no ortholog for NAALADL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NAALADL1 Gene

ENSEMBL:
Gene Tree for NAALADL1 (if available)
TreeFam:
Gene Tree for NAALADL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAALADL1: view image

Paralogs for NAALADL1 Gene

Paralogs for NAALADL1 Gene

(4) SIMAP similar genes for NAALADL1 Gene using alignment to 13 proteins:

  • NALDL_HUMAN
  • C9JFW8_HUMAN
  • C9JX16_HUMAN
  • E9PII9_HUMAN
  • E9PIU1_HUMAN
  • E9PJQ1_HUMAN
  • E9PKG8_HUMAN
  • E9PKR0_HUMAN
  • E9PKW7_HUMAN
  • E9PLR8_HUMAN
  • E9PRC7_HUMAN
  • H0YDS5_HUMAN
  • H0YEI8_HUMAN
genes like me logo Genes that share paralogs with NAALADL1: view

Variants for NAALADL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAALADL1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs12223986 - p.Lys398Thr
rs35422506 - p.Gln2His
rs36053340 - p.Leu611Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NAALADL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NAALADL1 Gene

Variant ID Type Subtype PubMed ID
nsv1150491 CNV insertion 26484159
nsv526181 CNV gain 19592680

Variation tolerance for NAALADL1 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAALADL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAALADL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAALADL1 Gene

Disorders for NAALADL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NAALADL1 Gene - From: COP

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 4
  • da4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NAALADL1

genes like me logo Genes that share disorders with NAALADL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAALADL1 Gene

Publications for NAALADL1 Gene

  1. Isolation and expression of novel human glutamate carboxypeptidases with N-acetylated alpha-linked acidic dipeptidase and dipeptidyl peptidase IV activity. (PMID: 10085079) Pangalos MN … Gordon RD (The Journal of biological chemistry 1999) 2 3 4
  2. Cloning and characterization of a novel peptidase from rat and human ileum. (PMID: 9388249) Shneider BL … Ananthanarayanan M (The Journal of biological chemistry 1997) 3 4 23
  3. Structural and biochemical characterization of a novel aminopeptidase from human intestine. (PMID: 25752612) Tykvart J … Konvalinka J (The Journal of biological chemistry 2015) 3 4
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for NAALADL1 Gene

Sources for NAALADL1 Gene