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Protein

Disintegrin and metalloproteinase domain-containing protein 30

Gene

ADAM30

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034).1 Publication

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi172Zinc; in inhibited formBy similarity1
Metal bindingi338Zinc; catalyticPROSITE-ProRule annotation1
Active sitei339PROSITE-ProRule annotation1
Metal bindingi342Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi348Zinc; catalyticPROSITE-ProRule annotation1

GO - Molecular functioni

  • metalloendopeptidase activity Source: InterPro
  • metallopeptidase activity Source: ProtInc
  • zinc ion binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134249-MONOMER.
ReactomeiR-HSA-1300644. Interaction With The Zona Pellucida.

Protein family/group databases

MEROPSiM12.232.

Names & Taxonomyi

Protein namesi
Recommended name:
Disintegrin and metalloproteinase domain-containing protein 30 (EC:3.4.24.-)
Short name:
ADAM 30
Gene namesi
Name:ADAM30
ORF Names:UNQ2509/PRO5997
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:208. ADAM30.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini199 – 687ExtracellularSequence analysisAdd BLAST489
Transmembranei688 – 708HelicalSequence analysisAdd BLAST21
Topological domaini709 – 790CytoplasmicSequence analysisAdd BLAST82

GO - Cellular componenti

  • integral component of membrane Source: ProtInc
  • late endosome membrane Source: UniProtKB-SubCell
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi338H → L: Loss of enzymatic activity; when associated with L-342 and L-348. 1 Publication1
Mutagenesisi342H → L: Loss of enzymatic activity; when associated with L-338 and L-348. 1 Publication1
Mutagenesisi348H → L: Loss of enzymatic activity; when associated with L-338 and L-342. 1 Publication1

Organism-specific databases

DisGeNETi11085.
OpenTargetsiENSG00000134249.
PharmGKBiPA24525.

Polymorphism and mutation databases

BioMutaiADAM30.
DMDMi47117918.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
PropeptideiPRO_000002913628 – 198By similarityAdd BLAST171
ChainiPRO_0000029137199 – 790Disintegrin and metalloproteinase domain-containing protein 30Add BLAST592

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi222N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi313 ↔ 388By similarity
Disulfide bondi353 ↔ 373By similarity
Disulfide bondi355 ↔ 361By similarity
Glycosylationi372N-linked (GlcNAc...)Sequence analysis1
Glycosylationi438N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi457 ↔ 477By similarity
Glycosylationi473N-linked (GlcNAc...)Sequence analysis1
Glycosylationi625N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi633 ↔ 644By similarity
Disulfide bondi638 ↔ 650By similarity
Disulfide bondi652 ↔ 661By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiQ9UKF2.
PeptideAtlasiQ9UKF2.
PRIDEiQ9UKF2.

PTM databases

iPTMnetiQ9UKF2.
PhosphoSitePlusiQ9UKF2.

Expressioni

Tissue specificityi

Expressed in brain neurons (at protein level) (PubMed:27333034). Expressed in testis (PubMed:10512762).2 Publications

Gene expression databases

BgeeiENSG00000134249.
CleanExiHS_ADAM30.
GenevisibleiQ9UKF2. HS.

Organism-specific databases

HPAiHPA026080.

Interactioni

Subunit structurei

Interacts with CTSD; this leads to activation of CTSD.1 Publication

Protein-protein interaction databases

BioGridi116267. 12 interactors.
STRINGi9606.ENSP00000358407.

Structurei

3D structure databases

ProteinModelPortaliQ9UKF2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini203 – 393Peptidase M12BPROSITE-ProRule annotationAdd BLAST191
Domaini399 – 485DisintegrinPROSITE-ProRule annotationAdd BLAST87
Domaini629 – 663EGF-likePROSITE-ProRule annotationAdd BLAST35
Repeati732 – 74019
Repeati741 – 74929
Repeati750 – 75839
Repeati759 – 76749
Repeati768 – 77659

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni732 – 7765 X 9 AA approximate repeatsAdd BLAST45

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi170 – 177Cysteine switchBy similarity8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi486 – 632Cys-richAdd BLAST147

Domaini

The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.

Sequence similaritiesi

Contains 1 disintegrin domain.PROSITE-ProRule annotation
Contains 1 EGF-like domain.PROSITE-ProRule annotation
Contains 1 peptidase M12B domain.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3607. Eukaryota.
ENOG410XX2M. LUCA.
GeneTreeiENSGT00760000118888.
HOGENOMiHOG000230883.
HOVERGENiHBG006978.
InParanoidiQ9UKF2.
KOiK08615.
OMAiDTYFQDV.
OrthoDBiEOG091G035Q.
PhylomeDBiQ9UKF2.
TreeFamiTF314733.

Family and domain databases

Gene3Di3.40.390.10. 1 hit.
4.10.70.10. 1 hit.
InterProiIPR006586. ADAM_Cys-rich.
IPR018358. Disintegrin_CS.
IPR001762. Disintegrin_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR024079. MetalloPept_cat_dom.
IPR001590. Peptidase_M12B.
IPR002870. Peptidase_M12B_N.
[Graphical view]
PfamiPF08516. ADAM_CR. 1 hit.
PF00200. Disintegrin. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF01421. Reprolysin. 1 hit.
[Graphical view]
PRINTSiPR00289. DISINTEGRIN.
SMARTiSM00608. ACR. 1 hit.
SM00050. DISIN. 1 hit.
[Graphical view]
SUPFAMiSSF57552. SSF57552. 1 hit.
PROSITEiPS50215. ADAM_MEPRO. 1 hit.
PS00427. DISINTEGRIN_1. 1 hit.
PS50214. DISINTEGRIN_2. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Alpha (identifier: Q9UKF2-1) [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
MRSVQIFLSQ CRLLLLLVPT MLLKSLGEDV IFHPEGEFDS YEVTIPEKLS
60 70 80 90 100
FRGEVQGVVS PVSYLLQLKG KKHVLHLWPK RLLLPRHLRV FSFTEHGELL
110 120 130 140 150
EDHPYIPKDC NYMGSVKESL DSKATISTCM GGLRGVFNID AKHYQIEPLK
160 170 180 190 200
ASPSFEHVVY LLKKEQFGNQ VCGLSDDEIE WQMAPYENKA RLRDFPGSYK
210 220 230 240 250
HPKYLELILL FDQSRYRFVN NNLSQVIHDA ILLTGIMDTY FQDVRMRIHL
260 270 280 290 300
KALEVWTDFN KIRVGYPELA EVLGRFVIYK KSVLNARLSS DWAHLYLQRK
310 320 330 340 350
YNDALAWSFG KVCSLEYAGS VSTLLDTNIL APATWSAHEL GHAVGMSHDE
360 370 380 390 400
QYCQCRGRLN CIMGSGRTGF SNCSYISFFK HISSGATCLN NIPGLGYVLK
410 420 430 440 450
RCGNKIVEDN EECDCGSTEE CQKDRCCQSN CKLQPGANCS IGLCCHDCRF
460 470 480 490 500
RPSGYVCRQE GNECDLAEYC DGNSSSCPND VYKQDGTPCK YEGRCFRKGC
510 520 530 540 550
RSRYMQCQSI FGPDAMEAPS ECYDAVNLIG DQFGNCEITG IRNFKKCESA
560 570 580 590 600
NSICGRLQCI NVETIPDLPE HTTIISTHLQ AENLMCWGTG YHLSMKPMGI
610 620 630 640 650
PDLGMINDGT SCGEGRVCFK KNCVNSSVLQ FDCLPEKCNT RGVCNNRKNC
660 670 680 690 700
HCMYGWAPPF CEEVGYGGSI DSGPPGLLRG AIPSSIWVVS IIMFRLILLI
710 720 730 740 750
LSVVFVFFRQ VIGNHLKPKQ EKMPLSKAKT EQEESKTKTV QEESKTKTGQ
760 770 780 790
EESEAKTGQE ESKAKTGQEE SKANIESKRP KAKSVKKQKK
Length:790
Mass (Da):88,940
Last modified:May 10, 2004 - v2
Checksum:i42EC8A5F6B5ACDA3
GO
Isoform Beta (identifier: Q9UKF2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     763-771: Missing.

Show »
Length:781
Mass (Da):87,981
Checksum:iEC875E91BA95B28F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti336S → P in AAF03781 (PubMed:10512762).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024597359L → P.2 PublicationsCorresponds to variant rs2641348dbSNPEnsembl.1
Natural variantiVAR_061738737T → A.Corresponds to variant rs35273427dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005494763 – 771Missing in isoform Beta. 1 Publication9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF171932 mRNA. Translation: AAF03780.1.
AF171933 mRNA. Translation: AAF03781.1.
AY358734 mRNA. Translation: AAQ89096.1.
AK292483 mRNA. Translation: BAF85172.1.
AL359752 Genomic DNA. Translation: CAI18978.1.
CCDSiCCDS907.1. [Q9UKF2-1]
RefSeqiNP_068566.2. NM_021794.3. [Q9UKF2-1]
UniGeneiHs.283011.

Genome annotation databases

EnsembliENST00000369400; ENSP00000358407; ENSG00000134249. [Q9UKF2-1]
GeneIDi11085.
KEGGihsa:11085.
UCSCiuc001eij.4. human. [Q9UKF2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF171932 mRNA. Translation: AAF03780.1.
AF171933 mRNA. Translation: AAF03781.1.
AY358734 mRNA. Translation: AAQ89096.1.
AK292483 mRNA. Translation: BAF85172.1.
AL359752 Genomic DNA. Translation: CAI18978.1.
CCDSiCCDS907.1. [Q9UKF2-1]
RefSeqiNP_068566.2. NM_021794.3. [Q9UKF2-1]
UniGeneiHs.283011.

3D structure databases

ProteinModelPortaliQ9UKF2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116267. 12 interactors.
STRINGi9606.ENSP00000358407.

Protein family/group databases

MEROPSiM12.232.

PTM databases

iPTMnetiQ9UKF2.
PhosphoSitePlusiQ9UKF2.

Polymorphism and mutation databases

BioMutaiADAM30.
DMDMi47117918.

Proteomic databases

PaxDbiQ9UKF2.
PeptideAtlasiQ9UKF2.
PRIDEiQ9UKF2.

Protocols and materials databases

DNASUi11085.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369400; ENSP00000358407; ENSG00000134249. [Q9UKF2-1]
GeneIDi11085.
KEGGihsa:11085.
UCSCiuc001eij.4. human. [Q9UKF2-1]

Organism-specific databases

CTDi11085.
DisGeNETi11085.
GeneCardsiADAM30.
HGNCiHGNC:208. ADAM30.
HPAiHPA026080.
MIMi604779. gene.
neXtProtiNX_Q9UKF2.
OpenTargetsiENSG00000134249.
PharmGKBiPA24525.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3607. Eukaryota.
ENOG410XX2M. LUCA.
GeneTreeiENSGT00760000118888.
HOGENOMiHOG000230883.
HOVERGENiHBG006978.
InParanoidiQ9UKF2.
KOiK08615.
OMAiDTYFQDV.
OrthoDBiEOG091G035Q.
PhylomeDBiQ9UKF2.
TreeFamiTF314733.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134249-MONOMER.
ReactomeiR-HSA-1300644. Interaction With The Zona Pellucida.

Miscellaneous databases

GenomeRNAii11085.
PROiQ9UKF2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134249.
CleanExiHS_ADAM30.
GenevisibleiQ9UKF2. HS.

Family and domain databases

Gene3Di3.40.390.10. 1 hit.
4.10.70.10. 1 hit.
InterProiIPR006586. ADAM_Cys-rich.
IPR018358. Disintegrin_CS.
IPR001762. Disintegrin_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR024079. MetalloPept_cat_dom.
IPR001590. Peptidase_M12B.
IPR002870. Peptidase_M12B_N.
[Graphical view]
PfamiPF08516. ADAM_CR. 1 hit.
PF00200. Disintegrin. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF01421. Reprolysin. 1 hit.
[Graphical view]
PRINTSiPR00289. DISINTEGRIN.
SMARTiSM00608. ACR. 1 hit.
SM00050. DISIN. 1 hit.
[Graphical view]
SUPFAMiSSF57552. SSF57552. 1 hit.
PROSITEiPS50215. ADAM_MEPRO. 1 hit.
PS00427. DISINTEGRIN_1. 1 hit.
PS50214. DISINTEGRIN_2. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiADA30_HUMAN
AccessioniPrimary (citable) accession number: Q9UKF2
Secondary accession number(s): A8K8W8, Q5T3X6, Q9UKF1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: May 10, 2004
Last modified: November 30, 2016
This is version 149 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.