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Disintegrin and metalloproteinase domain-containing protein 7 (ADAM 7) (Sperm maturation-related glycoprotein GP-83)

 ADAM7_HUMAN             Reviewed;         754 AA.
Q9H2U9; A8K8X7; O75959; Q6PEJ6;
31-JAN-2002, integrated into UniProtKB/Swiss-Prot.
18-MAY-2010, sequence version 3.
12-SEP-2018, entry version 138.
RecName: Full=Disintegrin and metalloproteinase domain-containing protein 7;
Short=ADAM 7;
AltName: Full=Sperm maturation-related glycoprotein GP-83;
Flags: Precursor;
Name=ADAM7; Synonyms=GP83;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Epididymis;
Lin Y.C., Lee Y.M., Sun G.H., Liu H.W.;
"Expression of human ADAM7 (GP-83).";
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16421571; DOI=10.1038/nature04406;
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
Lander E.S.;
"DNA sequence and analysis of human chromosome 8.";
Nature 439:331-335(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 167-754 (ISOFORM 1).
TISSUE=Epididymis;
Liu H.W., Lin Y.C., Sun G.H.;
"A ADAM-like cDNA sequence identified in cDNA library of human
epididymis.";
Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
[6]
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, AND CHARACTERIZATION
OF VARIANTS TYR-243; ILE-359; LYS-639 AND ASN-703.
PubMed=21618342; DOI=10.1002/humu.21477;
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.;
"Analysis of the disintegrin-metalloproteinases family reveals ADAM29
and ADAM7 are often mutated in melanoma.";
Hum. Mutat. 32:E2148-E2175(2011).
-!- 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).
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9H2U9-1; Sequence=Displayed;
Name=2;
IsoId=Q9H2U9-2; Sequence=VSP_056602, VSP_056603;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Not detected in healthy melanocytes. Expressed
in melanoma cells. {ECO:0000269|PubMed:21618342}.
-!- DISEASE: Note=Has been found to be frequently mutated in melanoma.
ADAM7 mutations may play a role in melanoma progression and
metastasis. {ECO:0000269|PubMed:21618342}.
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; AF215824; AAG43987.1; -; mRNA.
EMBL; AK292492; BAF85181.1; -; mRNA.
EMBL; AC024958; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC120193; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC058037; AAH58037.1; -; mRNA.
EMBL; AF090327; AAC36742.1; -; mRNA.
CCDS; CCDS6045.1; -. [Q9H2U9-1]
RefSeq; NP_003808.2; NM_003817.3. [Q9H2U9-1]
UniGene; Hs.116147; -.
ProteinModelPortal; Q9H2U9; -.
SMR; Q9H2U9; -.
BioGrid; 114292; 5.
STRING; 9606.ENSP00000175238; -.
MEROPS; M12.956; -.
iPTMnet; Q9H2U9; -.
PhosphoSitePlus; Q9H2U9; -.
BioMuta; ADAM7; -.
DMDM; 296439449; -.
PaxDb; Q9H2U9; -.
PeptideAtlas; Q9H2U9; -.
PRIDE; Q9H2U9; -.
ProteomicsDB; 80599; -.
DNASU; 8756; -.
Ensembl; ENST00000175238; ENSP00000175238; ENSG00000069206. [Q9H2U9-1]
Ensembl; ENST00000441335; ENSP00000393073; ENSG00000069206. [Q9H2U9-2]
GeneID; 8756; -.
KEGG; hsa:8756; -.
UCSC; uc003xea.2; human. [Q9H2U9-1]
CTD; 8756; -.
DisGeNET; 8756; -.
EuPathDB; HostDB:ENSG00000069206.15; -.
GeneCards; ADAM7; -.
HGNC; HGNC:214; ADAM7.
HPA; HPA008879; -.
MIM; 607310; gene.
neXtProt; NX_Q9H2U9; -.
OpenTargets; ENSG00000069206; -.
PharmGKB; PA24532; -.
eggNOG; KOG3607; Eukaryota.
eggNOG; ENOG410XX2M; LUCA.
GeneTree; ENSGT00910000144014; -.
HOGENOM; HOG000207557; -.
HOVERGEN; HBG006978; -.
InParanoid; Q9H2U9; -.
KO; K16071; -.
PhylomeDB; Q9H2U9; -.
TreeFam; TF314733; -.
GenomeRNAi; 8756; -.
PRO; PR:Q9H2U9; -.
Proteomes; UP000005640; Chromosome 8.
Bgee; ENSG00000069206; Expressed in 25 organ(s), highest expression level in caput epididymis.
CleanEx; HS_ADAM7; -.
ExpressionAtlas; Q9H2U9; baseline and differential.
Genevisible; Q9H2U9; HS.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
GO; GO:0004222; F:metalloendopeptidase activity; IEA:InterPro.
CDD; cd04269; ZnMc_adamalysin_II_like; 1.
Gene3D; 3.40.390.10; -; 1.
Gene3D; 4.10.70.10; -; 1.
InterPro; IPR006586; ADAM_Cys-rich.
InterPro; IPR018358; Disintegrin_CS.
InterPro; IPR001762; Disintegrin_dom.
InterPro; IPR036436; Disintegrin_dom_sf.
InterPro; IPR024079; MetalloPept_cat_dom_sf.
InterPro; IPR001590; Peptidase_M12B.
InterPro; IPR002870; Peptidase_M12B_N.
InterPro; IPR034027; Reprolysin_adamalysin.
Pfam; PF08516; ADAM_CR; 1.
Pfam; PF00200; Disintegrin; 1.
Pfam; PF01562; Pep_M12B_propep; 1.
Pfam; PF01421; Reprolysin; 1.
PRINTS; PR00289; DISINTEGRIN.
SMART; SM00608; ACR; 1.
SMART; SM00050; DISIN; 1.
SUPFAM; SSF57552; SSF57552; 1.
PROSITE; PS50215; ADAM_MEPRO; 1.
PROSITE; PS00427; DISINTEGRIN_1; 1.
PROSITE; PS50214; DISINTEGRIN_2; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Disulfide bond; Glycoprotein;
Membrane; Polymorphism; Reference proteome; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 18 {ECO:0000255}.
PROPEP 19 176 {ECO:0000250}.
/FTId=PRO_0000029052.
CHAIN 177 754 Disintegrin and metalloproteinase domain-
containing protein 7.
/FTId=PRO_0000029053.
TOPO_DOM 19 668 Extracellular. {ECO:0000255}.
TRANSMEM 669 689 Helical. {ECO:0000255}.
TOPO_DOM 690 754 Cytoplasmic. {ECO:0000255}.
DOMAIN 199 394 Peptidase M12B. {ECO:0000255|PROSITE-
ProRule:PRU00276}.
DOMAIN 402 488 Disintegrin. {ECO:0000255|PROSITE-
ProRule:PRU00068}.
COMPBIAS 489 668 Cys-rich.
CARBOHYD 84 84 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 167 167 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 174 174 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 184 184 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 584 584 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 668 668 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 310 389 {ECO:0000250}.
DISULFID 350 373 {ECO:0000250}.
DISULFID 352 357 {ECO:0000250}.
DISULFID 460 480 {ECO:0000250}.
VAR_SEQ 194 210 GIHDEKYVELFIVADDT -> VSTLLLSLPQMKHLLFS
(in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_056602.
VAR_SEQ 211 754 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_056603.
VARIANT 14 14 P -> S (in a cutaneous metastatic
melanoma sample; somatic mutation;
dbSNP:rs150319320).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066296.
VARIANT 25 25 E -> Q (in dbSNP:rs34852692).
/FTId=VAR_046728.
VARIANT 31 31 R -> C (in a cutaneous metastatic
melanoma sample; somatic mutation;
dbSNP:rs137990671).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066297.
VARIANT 36 36 P -> S (in a cutaneous metastatic
melanoma sample; somatic mutation;
dbSNP:rs267601866).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066298.
VARIANT 106 106 H -> Y (in a cutaneous metastatic
melanoma sample; somatic mutation;
dbSNP:rs267601867).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066299.
VARIANT 173 173 L -> P (detected in a melanoma cell
line). {ECO:0000269|PubMed:21618342}.
/FTId=VAR_066300.
VARIANT 180 180 V -> A (in a cutaneous metastatic
melanoma sample; somatic mutation).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066301.
VARIANT 205 205 I -> V (in dbSNP:rs7829386).
/FTId=VAR_046729.
VARIANT 243 243 H -> Y (in a cutaneous metastatic
melanoma sample; somatic mutation; does
not affect cell growth but conferes
reduced cell adhesion to laminin-1).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066302.
VARIANT 244 244 V -> M (in dbSNP:rs13255694).
/FTId=VAR_046730.
VARIANT 302 302 G -> E (in a cutaneous metastatic
melanoma sample; somatic mutation).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066303.
VARIANT 359 359 M -> I (in a cutaneous metastatic
melanoma sample; somatic mutation; does
not affect cell growth but conferes
reduced cell adhesion to collagen IV;
dbSNP:rs267601868).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066304.
VARIANT 453 453 I -> T (in dbSNP:rs3736281).
/FTId=VAR_046731.
VARIANT 533 533 G -> E (in a cutaneous metastatic
melanoma sample; somatic mutation;
dbSNP:rs867202281).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066305.
VARIANT 570 570 L -> V (in dbSNP:rs2307044).
/FTId=VAR_046732.
VARIANT 593 593 F -> L (detected in a melanoma cell
line). {ECO:0000269|PubMed:21618342}.
/FTId=VAR_066306.
VARIANT 638 638 N -> H (in dbSNP:rs13259668).
/FTId=VAR_046733.
VARIANT 639 639 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;
dbSNP:rs1034941983).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066307.
VARIANT 703 703 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).
{ECO:0000269|PubMed:21618342}.
/FTId=VAR_066308.
VARIANT 735 735 L -> P (in dbSNP:rs6980829).
/FTId=VAR_046734.
CONFLICT 95 95 E -> G (in Ref. 1; AAG43987).
{ECO:0000305}.
CONFLICT 369 370 KF -> DL (in Ref. 5; AAC36742).
{ECO:0000305}.
CONFLICT 374 374 S -> R (in Ref. 5; AAC36742).
{ECO:0000305}.
CONFLICT 518 518 E -> D (in Ref. 1; AAG43987).
{ECO:0000305}.
SEQUENCE 754 AA; 85669 MW; D9E9DF9B5812B0A7 CRC64;
MLPGCIFLMI LLIPQVKEKF ILGVEGQQLV RPKKLPLIQK RDTGHTHDDD ILKTYEEELL
YEIKLNRKTL VLHLLRSREF LGSNYSETFY SMKGEAFTRH PQIMDHCFYQ GSIVHEYDSA
ASISTCNGLR GFFRINDQRY LIEPVKYSDE GEHLVFKYNL RVPYGANYSC TELNFTRKTV
PGDNESEEDS KIKGIHDEKY VELFIVADDT VYRRNGHPHN KLRNRIWGMV NFVNMIYKTL
NIHVTLVGIE IWTHEDKIEL YSNIETTLLR FSFWQEKILK TRKDFDHVVL LSGKWLYSHV
QGISYPGGMC LPYYSTSIIK DLLPDTNIIA NRMAHQLGHN LGMQHDEFPC TCPSGKCVMD
SDGSIPALKF SKCSQNQYHQ YLKDYKPTCM LNIPFPYNFH DFQFCGNKKL DEGEECDCGP
AQECTNPCCD AHTCVLKPGF TCAEGECCES CQIKKAGSIC RPAKDECDFP EMCTGHSPAC
PKDQFRVNGF PCKNSEGYCF MGKCPTREDQ CSELFDDEAI ESHDICYKMN TKGNKFGYCK
NKENRFLPCE EKDVRCGKIY CTGGELSSLL GEDKTYHLKD PQKNATVKCK TIFLYHDSTD
IGLVASGTKC GEGMVCNNGE CLNMEKVYIS TNCPSQCNEN PVDGHGLQCH CEEGQAPVAC
EETLHVTNIT ILVVVLVLVI VGIGVLILLV RYRKCIKLKQ VQSPPTETLG VENKGYFGDE
QQIRTEPILP EIHFLNKPAS KDSRGIADPN QSAK


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