Q9H2U9 (ADAM7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Disintegrin and metalloproteinase domain-containing protein 7
Short name=ADAM 7

Alternative name(s):
Sperm maturation-related glycoprotein GP-83

Gene names

Name:	ADAM7
Synonyms:	GP83

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

General annotation (Comments)

Function	May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein By similarity.
Subcellular location	Membrane; Single-pass type I membrane protein.
Tissue specificity	Not detected in healthy melanocytes. Expressed in melanoma cells. Ref.4
Involvement in disease	Has been found to be frequently mutated in melanoma. ADAM7 mutations may play a role in melanoma progression and metastasis.
Sequence similarities	Contains 1 disintegrin domain. Contains 1 peptidase M12B domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
PTM	Disulfide bond 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 plasma membrane Inferred from electronic annotation. Source: Compara
Molecular_function	metalloendopeptidase activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 18	18	Potential
	Propeptide	19 – 176	158	By similarity		PRO_0000029052
	Chain	177 – 754	578	Disintegrin and metalloproteinase domain-containing protein 7		PRO_0000029053
Regions
	Topological domain	19 – 668	650	Extracellular Potential
	Transmembrane	669 – 689	21	Helical; Potential
	Topological domain	690 – 754	65	Cytoplasmic Potential
	Domain	199 – 394	196	Peptidase M12B
	Domain	402 – 488	87	Disintegrin
	Compositional bias	489 – 668	180	Cys-rich
Amino acid modifications
	Glycosylation	84	1	N-linked (GlcNAc...) Potential
	Glycosylation	167	1	N-linked (GlcNAc...) Potential
	Glycosylation	174	1	N-linked (GlcNAc...) Potential
	Glycosylation	184	1	N-linked (GlcNAc...) Potential
	Glycosylation	584	1	N-linked (GlcNAc...) Potential
	Glycosylation	668	1	N-linked (GlcNAc...) Potential
	Disulfide bond	310 ↔ 389		By similarity
	Disulfide bond	350 ↔ 373		By similarity
	Disulfide bond	352 ↔ 357		By similarity
	Disulfide bond	460 ↔ 480		By similarity
Natural variations
	Natural variant	14	1	P → S in a cutaneous metastatic melanoma sample; somatic mutation. Ref.4		VAR_066296
	Natural variant	25	1	E → Q. Corresponds to variant rs34852692 [ dbSNP | Ensembl ].		VAR_046728
	Natural variant	31	1	R → C in a cutaneous metastatic melanoma sample; somatic mutation. Ref.4		VAR_066297
	Natural variant	36	1	P → S in a cutaneous metastatic melanoma sample; somatic mutation. Ref.4		VAR_066298
	Natural variant	106	1	H → Y in a cutaneous metastatic melanoma sample; somatic mutation. Ref.4		VAR_066299
	Natural variant	173	1	L → P Detected in a melanoma cell line. Ref.4		VAR_066300
	Natural variant	180	1	V → A in a cutaneous metastatic melanoma sample; somatic mutation. Ref.4		VAR_066301
	Natural variant	205	1	I → V. Corresponds to variant rs7829386 [ dbSNP | Ensembl ].		VAR_046729
	Natural variant	243	1	H → Y in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to laminin-1. Ref.4		VAR_066302
	Natural variant	244	1	V → M. Corresponds to variant rs13255694 [ dbSNP | Ensembl ].		VAR_046730
	Natural variant	302	1	G → E in a cutaneous metastatic melanoma sample; somatic mutation. Ref.4		VAR_066303
	Natural variant	359	1	M → I in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to collagen IV. Ref.4		VAR_066304
	Natural variant	453	1	I → T. Corresponds to variant rs3736281 [ dbSNP | Ensembl ].		VAR_046731
	Natural variant	533	1	G → E in a cutaneous metastatic melanoma sample; somatic mutation. Ref.4		VAR_066305
	Natural variant	570	1	L → V. Corresponds to variant rs2307044 [ dbSNP | Ensembl ].		VAR_046732
	Natural variant	593	1	F → L Detected in a melanoma cell line. Ref.4		VAR_066306
	Natural variant	638	1	N → H. Corresponds to variant rs13259668 [ dbSNP | Ensembl ].		VAR_046733
	Natural variant	639	1	E → K in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to collagen IV and laminin-1; increases cell migration capabilities compared to wild-type. Ref.4		VAR_066307
	Natural variant	703	1	S → N in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to collagen IV and laminin-1; increases cell migration capabilities compared to wild-type. Ref.4		VAR_066308
	Natural variant	735	1	L → P. Corresponds to variant rs6980829 [ dbSNP | Ensembl ].		VAR_046734
Experimental info
	Sequence conflict	95	1	E → G in AAG43987. Ref.1
	Sequence conflict	369 – 370	2	KF → DL in AAC36742. Ref.3
	Sequence conflict	374	1	S → R in AAC36742. Ref.3
	Sequence conflict	518	1	E → D in AAG43987. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9H2U9 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: D9E9DF9B5812B0A7	FASTA	754	85,669
	10 20 30 40 50 60 MLPGCIFLMI LLIPQVKEKF ILGVEGQQLV RPKKLPLIQK RDTGHTHDDD ILKTYEEELL 70 80 90 100 110 120 YEIKLNRKTL VLHLLRSREF LGSNYSETFY SMKGEAFTRH PQIMDHCFYQ GSIVHEYDSA 130 140 150 160 170 180 ASISTCNGLR GFFRINDQRY LIEPVKYSDE GEHLVFKYNL RVPYGANYSC TELNFTRKTV 190 200 210 220 230 240 PGDNESEEDS KIKGIHDEKY VELFIVADDT VYRRNGHPHN KLRNRIWGMV NFVNMIYKTL 250 260 270 280 290 300 NIHVTLVGIE IWTHEDKIEL YSNIETTLLR FSFWQEKILK TRKDFDHVVL LSGKWLYSHV 310 320 330 340 350 360 QGISYPGGMC LPYYSTSIIK DLLPDTNIIA NRMAHQLGHN LGMQHDEFPC TCPSGKCVMD 370 380 390 400 410 420 SDGSIPALKF SKCSQNQYHQ YLKDYKPTCM LNIPFPYNFH DFQFCGNKKL DEGEECDCGP 430 440 450 460 470 480 AQECTNPCCD AHTCVLKPGF TCAEGECCES CQIKKAGSIC RPAKDECDFP EMCTGHSPAC 490 500 510 520 530 540 PKDQFRVNGF PCKNSEGYCF MGKCPTREDQ CSELFDDEAI ESHDICYKMN TKGNKFGYCK 550 560 570 580 590 600 NKENRFLPCE EKDVRCGKIY CTGGELSSLL GEDKTYHLKD PQKNATVKCK TIFLYHDSTD 610 620 630 640 650 660 IGLVASGTKC GEGMVCNNGE CLNMEKVYIS TNCPSQCNEN PVDGHGLQCH CEEGQAPVAC 670 680 690 700 710 720 EETLHVTNIT ILVVVLVLVI VGIGVLILLV RYRKCIKLKQ VQSPPTETLG VENKGYFGDE 730 740 750 QQIRTEPILP EIHFLNKPAS KDSRGIADPN QSAK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression of human ADAM7 (GP-83)." Lin Y.C., Lee Y.M., Sun G.H., Liu H.W. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Epididymis.
[2]	"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]. Tissue: Testis.
[3]	"A ADAM-like cDNA sequence identified in cDNA library of human epididymis." Liu H.W., Lin Y.C., Sun G.H. Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 167-754. Tissue: Epididymis.
[4]	"Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma." Wei X., Moncada-Pazos A., Cal S., Soria-Valles C., Gartner J., Rudloff U., Lin J.C., Rosenberg S.A., Lopez-Otin C., Samuels Y. Hum. Mutat. 32:E2148-E2175(2011) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN CUTANEOUS MELANOMA, VARIANTS SER-14; CYS-31; SER-36; TYR-106; PRO-173; ALA-180; TYR-243; GLU-302; ILE-359; GLU-533; LEU-593; LYS-639 AND ASN-703, CHARACTERIZATION OF VARIANTS TYR-243; ILE-359; LYS-639 AND ASN-703.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF215824 mRNA. Translation: AAG43987.1. AK292492 mRNA. Translation: BAF85181.1. AF090327 mRNA. Translation: AAC36742.1.
IPI	IPI00023134.
RefSeq	NP_003808.2. NM_003817.3.
UniGene	Hs.116147.
3D structure databases
ProteinModelPortal	Q9H2U9.
SMR	Q9H2U9. Positions 195-628, 637-662.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000175238.
Protein family/group databases
MEROPS	M12.956.
PTM databases
PhosphoSite	Q9H2U9.
Polymorphism databases
DMDM	296439449.
Proteomic databases
PaxDb	Q9H2U9.
PRIDE	Q9H2U9.
Protocols and materials databases
DNASU	8756.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000175238; ENSP00000175238; ENSG00000069206.
GeneID	8756.
KEGG	hsa:8756.
UCSC	uc003xeb.3. human.
Organism-specific databases
CTD	8756.
GeneCards	GC08P024354.
HGNC	HGNC:214. ADAM7.
HPA	HPA008879.
MIM	607310. gene.
neXtProt	NX_Q9H2U9.
PharmGKB	PA24532.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG277164.
HOGENOM	HOG000230883.
HOVERGEN	HBG006978.
KO	K16071.
OrthoDB	EOG43BMND.
PhylomeDB	Q9H2U9.
Gene expression databases
ArrayExpress	Q9H2U9.
Bgee	Q9H2U9.
CleanEx	HS_ADAM7.
Genevestigator	Q9H2U9.
GermOnline	ENSG00000069206. 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. 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. PS00427. DISINTEGRIN_1. 1 hit. PS50214. DISINTEGRIN_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8756.
NextBio	32854.
SOURCE	Search...

Entry information

Entry name

ADAM7_HUMAN

Accession

Primary (citable) accession number: Q9H2U9
Secondary accession number(s): A8K8X7, O75959

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 31, 2002
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 99 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.