Q9UKF2 (ADA30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Disintegrin and metalloproteinase domain-containing protein 30
Short name=ADAM 30
EC=3.4.24.-

Gene names

Name:	ADAM30
ORF Names:	UNQ2509/PRO5997

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	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 Transmembrane helix
Ligand	Metal-binding Zinc
Molecular function	Hydrolase Metalloprotease Protease
PTM	Disulfide bond Glycoprotein Zymogen
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	proteolysis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Traceable author statement Ref.1. Source: ProtInc
Molecular_function	metalloendopeptidase activity Inferred from electronic annotation. Source: InterPro metallopeptidase activity Traceable author statement Ref.1. Source: ProtInc zinc ion binding Traceable author statement Ref.1. 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	Feature identifier
Molecule processing
	Signal peptide	1 – 27	27	Potential
	Propeptide	28 – 198	171	By similarity		PRO_0000029136
	Chain	199 – 790	592	Disintegrin and metalloproteinase domain-containing protein 30		PRO_0000029137
Regions
	Topological domain	199 – 687	489	Extracellular Potential
	Transmembrane	688 – 708	21	Helical; 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.		VSP_005494
	Natural variant	359	1	L → P. Ref.1 Ref.3 Corresponds to variant rs2641348 [ dbSNP | Ensembl ].		VAR_024597
	Natural variant	737	1	T → A. Corresponds to variant rs35273427 [ dbSNP | Ensembl ].		VAR_061738
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	FASTA	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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA), VARIANT PRO-359. Tissue: Testis.
[4]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00007515. IPI00215648.
RefSeq	NP_068566.2. NM_021794.3.
UniGene	Hs.283011.
3D structure databases
ProteinModelPortal	Q9UKF2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000358407.
Protein family/group databases
MEROPS	M12.232.
PTM databases
PhosphoSite	Q9UKF2.
Polymorphism databases
DMDM	47117918.
Proteomic databases
PaxDb	Q9UKF2.
PRIDE	Q9UKF2.
Protocols and materials databases
DNASU	11085.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369400; ENSP00000358407; ENSG00000134249.
GeneID	11085.
KEGG	hsa:11085.
UCSC	uc001eij.3. human.
Organism-specific databases
CTD	11085.
GeneCards	GC01M120436.
HGNC	HGNC:208. ADAM30.
HPA	HPA026080.
MIM	604779. gene.
neXtProt	NX_Q9UKF2.
PharmGKB	PA24525.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG276852.
HOGENOM	HOG000230883.
HOVERGEN	HBG006978.
InParanoid	Q9UKF2.
KO	K08615.
OMA	CWGTGYH.
OrthoDB	EOG4K9BBR.
PhylomeDB	Q9UKF2.
Gene expression databases
Bgee	Q9UKF2.
CleanEx	HS_ADAM30.
Genevestigator	Q9UKF2.
GermOnline	ENSG00000134249. Homo sapiens.
Family and domain databases
Gene3D	3.40.390.10. 1 hit. 4.10.70.10. 1 hit.
InterPro	IPR006586. ADAM_Cys-rich. IPR001762. Blood-coag_inhib_Disintegrin. IPR018358. Disintegrin_CS. IPR000742. EG-like_dom. IPR013032. EGF-like_CS. IPR024079. MetalloPept_cat_dom. IPR001590. Peptidase_M12B. IPR002870. Peptidase_M12B_N. [Graphical view]
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.
SMART	SM00608. ACR. 1 hit. SM00050. DISIN. 1 hit. [Graphical view]
SUPFAM	SSF57552. Disintegrin. 1 hit.
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]
ProtoNet	Search...
Other
GenomeRNAi	11085.
NextBio	42148.
SOURCE	Search...

Entry information

Entry name

ADA30_HUMAN

Accession

Primary (citable) accession number: Q9UKF2
Secondary accession number(s): A8K8W8, Q5T3X6, Q9UKF1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2001
Last sequence update:	May 10, 2004
Last modified:	May 1, 2013
This is version 119 of the entry and version 2 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.