Reviewed, UniProtKB/Swiss-Prot Q9UKF2 (ADA30_HUMAN)

Names and origin

Protein names

Recommended name:
    ADAM 30
    EC=3.4.24.-
Alternative name(s):
    A disintegrin and metalloproteinase domain 30

Gene names

Name:	ADAM30
ORF Names:	UNQ2509/PRO5997

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	790 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May be involved in spermatogenesis and fertilization.
Cofactor	Binds 1 zinc ion per subunit By similarity.
Subcellular location	Membrane; Single-pass type I membrane protein.
Tissue specificity	Expressed specifically in testis.
Domain	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 similarities	Contains 1 disintegrin domain. Contains 1 EGF-like domain. Contains 1 peptidase M12B domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	EGF-like domain Repeat Signal Transmembrane
Ligand	Metal-binding Zinc
Molecular function	Hydrolase Metalloprotease Protease
PTM	Glycoprotein Zymogen
Gene Ontology (GO)
Cellular component	integral to membrane Ref.1 Traceable author statement. Source: ProtInc
Molecular function	metallopeptidase activity Ref.1 Traceable author statement. Source: ProtInc zinc ion binding Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Alpha (identifier: Q9UKF2-1)

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 Beta (identifier: Q9UKF2-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Signal peptide	1 – 27	27	Potential
	Propeptide	28 – 198	171	By similarity
	Chain	199 – 790	592	ADAM 30
Regions
	Topological domain	199 – 687	489	Extracellular Potential
	Transmembrane	688 – 708	21	Potential
	Topological domain	709 – 790	82	Cytoplasmic Potential
	Domain	203 – 393	191	Peptidase M12B
	Domain	399 – 485	87	Disintegrin
	Domain	629 – 663	35	EGF-like
	Repeat	732 – 740	9	1
	Repeat	741 – 749	9	2
	Repeat	750 – 758	9	3
	Repeat	759 – 767	9	4
	Repeat	768 – 776	9	5
	Region	732 – 776	45	5 X 9 AA approximate repeats
	Motif	170 – 177	8	Cysteine switch By similarity
	Compositional bias	486 – 632	147	Cys-rich
Sites
	Active site	339	1	By similarity
	Metal binding	172	1	Zinc (in inhibited form) By similarity
	Metal binding	338	1	Zinc (catalytic) By similarity
	Metal binding	342	1	Zinc (catalytic) By similarity
	Metal binding	348	1	Zinc (catalytic) By similarity
Amino acid modifications
	Glycosylation	222	1	N-linked (GlcNAc...) Potential
	Glycosylation	372	1	N-linked (GlcNAc...) Potential
	Glycosylation	438	1	N-linked (GlcNAc...) Potential
	Glycosylation	473	1	N-linked (GlcNAc...) Potential
	Glycosylation	625	1	N-linked (GlcNAc...) Potential
	Disulfide bond	313 ↔ 388		By similarity
	Disulfide bond	353 ↔ 373		By similarity
	Disulfide bond	355 ↔ 361		By similarity
	Disulfide bond	457 ↔ 477		By similarity
	Disulfide bond	633 ↔ 644		By similarity
	Disulfide bond	638 ↔ 650		By similarity
	Disulfide bond	652 ↔ 661		By similarity
Natural variations
	Alternative sequence	763 – 771	9	Missing in isoform Beta.
	Natural variant	359	1	L → P: dbSNP rs2641348.
Experimental info
	Sequence conflict	336	1	S → P in AAF03781. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform Alpha [UniParc]. Last modified May 10, 2004. Version 2. Checksum: 42EC8A5F6B5ACDA3	FASTA	790	88,940
	10 20 30 40 50 60 MRSVQIFLSQ CRLLLLLVPT MLLKSLGEDV IFHPEGEFDS YEVTIPEKLS FRGEVQGVVS 70 80 90 100 110 120 PVSYLLQLKG KKHVLHLWPK RLLLPRHLRV FSFTEHGELL EDHPYIPKDC NYMGSVKESL 130 140 150 160 170 180 DSKATISTCM GGLRGVFNID AKHYQIEPLK ASPSFEHVVY LLKKEQFGNQ VCGLSDDEIE 190 200 210 220 230 240 WQMAPYENKA RLRDFPGSYK HPKYLELILL FDQSRYRFVN NNLSQVIHDA ILLTGIMDTY 250 260 270 280 290 300 FQDVRMRIHL KALEVWTDFN KIRVGYPELA EVLGRFVIYK KSVLNARLSS DWAHLYLQRK 310 320 330 340 350 360 YNDALAWSFG KVCSLEYAGS VSTLLDTNIL APATWSAHEL GHAVGMSHDE QYCQCRGRLN 370 380 390 400 410 420 CIMGSGRTGF SNCSYISFFK HISSGATCLN NIPGLGYVLK RCGNKIVEDN EECDCGSTEE 430 440 450 460 470 480 CQKDRCCQSN CKLQPGANCS IGLCCHDCRF RPSGYVCRQE GNECDLAEYC DGNSSSCPND 490 500 510 520 530 540 VYKQDGTPCK YEGRCFRKGC RSRYMQCQSI FGPDAMEAPS ECYDAVNLIG DQFGNCEITG 550 560 570 580 590 600 IRNFKKCESA NSICGRLQCI NVETIPDLPE HTTIISTHLQ AENLMCWGTG YHLSMKPMGI 610 620 630 640 650 660 PDLGMINDGT SCGEGRVCFK KNCVNSSVLQ FDCLPEKCNT RGVCNNRKNC HCMYGWAPPF 670 680 690 700 710 720 CEEVGYGGSI DSGPPGLLRG AIPSSIWVVS IIMFRLILLI LSVVFVFFRQ VIGNHLKPKQ 730 740 750 760 770 780 EKMPLSKAKT EQEESKTKTV QEESKTKTGQ EESEAKTGQE ESKAKTGQEE SKANIESKRP 790 KAKSVKKQKK
	Isoform Beta [UniParc]. Checksum: EC875E91BA95B28F		781	87,981
	10 20 30 40 50 60 MRSVQIFLSQ CRLLLLLVPT MLLKSLGEDV IFHPEGEFDS YEVTIPEKLS FRGEVQGVVS 70 80 90 100 110 120 PVSYLLQLKG KKHVLHLWPK RLLLPRHLRV FSFTEHGELL EDHPYIPKDC NYMGSVKESL 130 140 150 160 170 180 DSKATISTCM GGLRGVFNID AKHYQIEPLK ASPSFEHVVY LLKKEQFGNQ VCGLSDDEIE 190 200 210 220 230 240 WQMAPYENKA RLRDFPGSYK HPKYLELILL FDQSRYRFVN NNLSQVIHDA ILLTGIMDTY 250 260 270 280 290 300 FQDVRMRIHL KALEVWTDFN KIRVGYPELA EVLGRFVIYK KSVLNARLSS DWAHLYLQRK 310 320 330 340 350 360 YNDALAWSFG KVCSLEYAGS VSTLLDTNIL APATWSAHEL GHAVGMSHDE QYCQCRGRLN 370 380 390 400 410 420 CIMGSGRTGF SNCSYISFFK HISSGATCLN NIPGLGYVLK RCGNKIVEDN EECDCGSTEE 430 440 450 460 470 480 CQKDRCCQSN CKLQPGANCS IGLCCHDCRF RPSGYVCRQE GNECDLAEYC DGNSSSCPND 490 500 510 520 530 540 VYKQDGTPCK YEGRCFRKGC RSRYMQCQSI FGPDAMEAPS ECYDAVNLIG DQFGNCEITG 550 560 570 580 590 600 IRNFKKCESA NSICGRLQCI NVETIPDLPE HTTIISTHLQ AENLMCWGTG YHLSMKPMGI 610 620 630 640 650 660 PDLGMINDGT SCGEGRVCFK KNCVNSSVLQ FDCLPEKCNT RGVCNNRKNC HCMYGWAPPF 670 680 690 700 710 720 CEEVGYGGSI DSGPPGLLRG AIPSSIWVVS IIMFRLILLI LSVVFVFFRQ VIGNHLKPKQ 730 740 750 760 770 780 EKMPLSKAKT EQEESKTKTV QEESKTKTGQ EESEAKTGQE ESKANIESKR PKAKSVKKQK K

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression." Cerretti D.P., DuBose R.F., Black R.A., Nelson N. Biochem. Biophys. Res. Commun. 263:810-815(1999) [PubMed: 10512762] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA AND BETA), VARIANT PRO-359. Tissue: Testis.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF171932 mRNA. Translation: AAF03780.1. AF171933 mRNA. Translation: AAF03781.1. AY358734 mRNA. Translation: AAQ89096.1. AL359752 Genomic DNA. Translation: CAI18978.1.
RefSeq	NP_068566.2.
UniGene	Hs.283011
3D structure databases
HSSP	HSSP built from PDB template 1HEV based on UniProtKB P02877.
ModBase	Search...
Protein family/group databases
MEROPS	M12.232.
Genome annotation databases
Ensembl	ENSG00000134249. Homo sapiens. [Contig view]
GeneID	11085.
KEGG	hsa:11085.
Organism-specific databases
H-InvDB	HIX0000954.
HGNC	HGNC:208. ADAM30.
MIM	604779. gene.
PharmGKB	PA24525.
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOGENOM	Q9UKF2.
HOVERGEN	Q9UKF2.
Gene expression databases
ArrayExpress	Q9UKF2.
CleanEx	HS_ADAM30.
GermOnline	ENSG00000134249. Homo sapiens.
Family and domain databases
InterPro	IPR006586. ADAM_cysteine. IPR001762. Blood-coag_inhib_Disintegrin. IPR000742. EGF_3. IPR013032. EGF_like_reg_CS. IPR001818. Pept_M10A_M12B. IPR006025. Pept_M_Zn_BS. IPR001590. Peptidase_M12B. IPR002870. Peptidase_M12B_N. [Graphical view]
Gene3D	G3DSA:4.10.70.10. Blood-coag_inhib_Disintegrin. 1 hit.
Pfam	PF08516. ADAM_CR. 1 hit. PF00200. Disintegrin. 1 hit. PF01562. Pep_M12B_propep. 1 hit. PF01421. Reprolysin. 1 hit. [Graphical view]
PRINTS	PR00289. DISINTEGRIN.
ProDom	PD000664. Disintegrin. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00608. ACR. 1 hit. SM00050. DISIN. 1 hit. [Graphical view]
PROSITE	PS50215. ADAM_MEPRO. 1 hit. PS00546. CYSTEINE_SWITCH. False negative. PS00427. DISINTEGRIN_1. 1 hit. PS50214. DISINTEGRIN_2. 1 hit. PS00022. EGF_1. False negative. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 1 hit. PS00142. ZINC_PROTEASE. False negative. [Graphical view]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

ADA30_HUMAN

Accession

Primary (citable) accession number: Q9UKF2
Secondary accession number(s): Q5T3X6, Q9UKF1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2001
Last sequence update:	May 10, 2004
Last modified:	July 22, 2008
This is version 74 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)