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Q9H2U9

- ADAM7_HUMAN

UniProt

Q9H2U9 - ADAM7_HUMAN

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Protein
Disintegrin and metalloproteinase domain-containing protein 7
Gene
ADAM7, GP83
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein By similarity.

GO - Molecular functioni

  1. metalloendopeptidase activity Source: InterPro
  2. zinc ion binding Source: InterPro
Complete GO annotation...

Protein family/group databases

MEROPSiM12.956.

Names & Taxonomyi

Protein namesi
Recommended name:
Disintegrin and metalloproteinase domain-containing protein 7
Short name:
ADAM 7
Alternative name(s):
Sperm maturation-related glycoprotein GP-83
Gene namesi
Name:ADAM7
Synonyms:GP83
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:214. ADAM7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 668650Extracellular Reviewed prediction
Add
BLAST
Transmembranei669 – 68921Helical; Reviewed prediction
Add
BLAST
Topological domaini690 – 75465Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Has been found to be frequently mutated in melanoma. ADAM7 mutations may play a role in melanoma progression and metastasis.

Organism-specific databases

PharmGKBiPA24532.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818 Reviewed prediction
Add
BLAST
Propeptidei19 – 176158 By similarity
PRO_0000029052Add
BLAST
Chaini177 – 754578Disintegrin and metalloproteinase domain-containing protein 7
PRO_0000029053Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi84 – 841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi167 – 1671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi174 – 1741N-linked (GlcNAc...) Reviewed prediction
Glycosylationi184 – 1841N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi310 ↔ 389 By similarity
Disulfide bondi350 ↔ 373 By similarity
Disulfide bondi352 ↔ 357 By similarity
Disulfide bondi460 ↔ 480 By similarity
Glycosylationi584 – 5841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi668 – 6681N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9H2U9.
PRIDEiQ9H2U9.

PTM databases

PhosphoSiteiQ9H2U9.

Expressioni

Tissue specificityi

Not detected in healthy melanocytes. Expressed in melanoma cells.1 Publication

Gene expression databases

ArrayExpressiQ9H2U9.
BgeeiQ9H2U9.
CleanExiHS_ADAM7.
GenevestigatoriQ9H2U9.

Organism-specific databases

HPAiHPA008879.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000175238.

Structurei

3D structure databases

ProteinModelPortaliQ9H2U9.
SMRiQ9H2U9. Positions 195-628, 634-662.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini199 – 394196Peptidase M12B
Add
BLAST
Domaini402 – 48887Disintegrin
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi489 – 668180Cys-rich
Add
BLAST

Sequence similaritiesi

Contains 1 disintegrin domain.

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG277164.
HOGENOMiHOG000230883.
HOVERGENiHBG006978.
KOiK16071.
OrthoDBiEOG7X0VGD.
PhylomeDBiQ9H2U9.
TreeFamiTF314733.

Family and domain databases

Gene3Di3.40.390.10. 1 hit.
4.10.70.10. 1 hit.
InterProiIPR006586. ADAM_Cys-rich.
IPR001762. Blood-coag_inhib_Disintegrin.
IPR018358. Disintegrin_CS.
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.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9H2U9-1 [UniParc]FASTAAdd to Basket

« Hide

MLPGCIFLMI LLIPQVKEKF ILGVEGQQLV RPKKLPLIQK RDTGHTHDDD    50
ILKTYEEELL YEIKLNRKTL VLHLLRSREF LGSNYSETFY SMKGEAFTRH 100
PQIMDHCFYQ GSIVHEYDSA ASISTCNGLR GFFRINDQRY LIEPVKYSDE 150
GEHLVFKYNL RVPYGANYSC TELNFTRKTV PGDNESEEDS KIKGIHDEKY 200
VELFIVADDT VYRRNGHPHN KLRNRIWGMV NFVNMIYKTL NIHVTLVGIE 250
IWTHEDKIEL YSNIETTLLR FSFWQEKILK TRKDFDHVVL LSGKWLYSHV 300
QGISYPGGMC LPYYSTSIIK DLLPDTNIIA NRMAHQLGHN LGMQHDEFPC 350
TCPSGKCVMD SDGSIPALKF SKCSQNQYHQ YLKDYKPTCM LNIPFPYNFH 400
DFQFCGNKKL DEGEECDCGP AQECTNPCCD AHTCVLKPGF TCAEGECCES 450
CQIKKAGSIC RPAKDECDFP EMCTGHSPAC PKDQFRVNGF PCKNSEGYCF 500
MGKCPTREDQ CSELFDDEAI ESHDICYKMN TKGNKFGYCK NKENRFLPCE 550
EKDVRCGKIY CTGGELSSLL GEDKTYHLKD PQKNATVKCK TIFLYHDSTD 600
IGLVASGTKC GEGMVCNNGE CLNMEKVYIS TNCPSQCNEN PVDGHGLQCH 650
CEEGQAPVAC EETLHVTNIT ILVVVLVLVI VGIGVLILLV RYRKCIKLKQ 700
VQSPPTETLG VENKGYFGDE QQIRTEPILP EIHFLNKPAS KDSRGIADPN 750
QSAK 754
Length:754
Mass (Da):85,669
Last modified:May 18, 2010 - v3
Checksum:iD9E9DF9B5812B0A7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141P → S in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication
VAR_066296
Natural varianti25 – 251E → Q.
Corresponds to variant rs34852692 [ dbSNP | Ensembl ].
VAR_046728
Natural varianti31 – 311R → C in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication
VAR_066297
Natural varianti36 – 361P → S in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication
VAR_066298
Natural varianti106 – 1061H → Y in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication
VAR_066299
Natural varianti173 – 1731L → P Detected in a melanoma cell line. 1 Publication
VAR_066300
Natural varianti180 – 1801V → A in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication
VAR_066301
Natural varianti205 – 2051I → V.
Corresponds to variant rs7829386 [ dbSNP | Ensembl ].
VAR_046729
Natural varianti243 – 2431H → Y in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to laminin-1. 1 Publication
VAR_066302
Natural varianti244 – 2441V → M.
Corresponds to variant rs13255694 [ dbSNP | Ensembl ].
VAR_046730
Natural varianti302 – 3021G → E in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication
VAR_066303
Natural varianti359 – 3591M → I in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to collagen IV. 1 Publication
VAR_066304
Natural varianti453 – 4531I → T.
Corresponds to variant rs3736281 [ dbSNP | Ensembl ].
VAR_046731
Natural varianti533 – 5331G → E in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication
VAR_066305
Natural varianti570 – 5701L → V.
Corresponds to variant rs2307044 [ dbSNP | Ensembl ].
VAR_046732
Natural varianti593 – 5931F → L Detected in a melanoma cell line. 1 Publication
VAR_066306
Natural varianti638 – 6381N → H.
Corresponds to variant rs13259668 [ dbSNP | Ensembl ].
VAR_046733
Natural varianti639 – 6391E → 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. 1 Publication
VAR_066307
Natural varianti703 – 7031S → 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. 1 Publication
VAR_066308
Natural varianti735 – 7351L → P.
Corresponds to variant rs6980829 [ dbSNP | Ensembl ].
VAR_046734

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti95 – 951E → G in AAG43987. 1 Publication
Sequence conflicti369 – 3702KF → DL in AAC36742. 1 Publication
Sequence conflicti374 – 3741S → R in AAC36742. 1 Publication
Sequence conflicti518 – 5181E → D in AAG43987. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF215824 mRNA. Translation: AAG43987.1.
AK292492 mRNA. Translation: BAF85181.1.
AF090327 mRNA. Translation: AAC36742.1.
CCDSiCCDS6045.1.
RefSeqiNP_003808.2. NM_003817.3.
UniGeneiHs.116147.

Genome annotation databases

EnsembliENST00000175238; ENSP00000175238; ENSG00000069206.
GeneIDi8756.
KEGGihsa:8756.
UCSCiuc003xeb.3. human.

Polymorphism databases

DMDMi296439449.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF215824 mRNA. Translation: AAG43987.1 .
AK292492 mRNA. Translation: BAF85181.1 .
AF090327 mRNA. Translation: AAC36742.1 .
CCDSi CCDS6045.1.
RefSeqi NP_003808.2. NM_003817.3.
UniGenei Hs.116147.

3D structure databases

ProteinModelPortali Q9H2U9.
SMRi Q9H2U9. Positions 195-628, 634-662.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000175238.

Protein family/group databases

MEROPSi M12.956.

PTM databases

PhosphoSitei Q9H2U9.

Polymorphism databases

DMDMi 296439449.

Proteomic databases

PaxDbi Q9H2U9.
PRIDEi Q9H2U9.

Protocols and materials databases

DNASUi 8756.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000175238 ; ENSP00000175238 ; ENSG00000069206 .
GeneIDi 8756.
KEGGi hsa:8756.
UCSCi uc003xeb.3. human.

Organism-specific databases

CTDi 8756.
GeneCardsi GC08P024354.
HGNCi HGNC:214. ADAM7.
HPAi HPA008879.
MIMi 607310. gene.
neXtProti NX_Q9H2U9.
PharmGKBi PA24532.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG277164.
HOGENOMi HOG000230883.
HOVERGENi HBG006978.
KOi K16071.
OrthoDBi EOG7X0VGD.
PhylomeDBi Q9H2U9.
TreeFami TF314733.

Miscellaneous databases

GenomeRNAii 8756.
NextBioi 32854.
PROi Q9H2U9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H2U9.
Bgeei Q9H2U9.
CleanExi HS_ADAM7.
Genevestigatori Q9H2U9.

Family and domain databases

Gene3Di 3.40.390.10. 1 hit.
4.10.70.10. 1 hit.
InterProi 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 ]
Pfami PF08516. ADAM_CR. 1 hit.
PF00200. Disintegrin. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF01421. Reprolysin. 1 hit.
[Graphical view ]
PRINTSi PR00289. DISINTEGRIN.
SMARTi SM00608. ACR. 1 hit.
SM00050. DISIN. 1 hit.
[Graphical view ]
SUPFAMi SSF57552. SSF57552. 1 hit.
PROSITEi PS50215. ADAM_MEPRO. 1 hit.
PS00427. DISINTEGRIN_1. 1 hit.
PS50214. DISINTEGRIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiADAM7_HUMAN
AccessioniPrimary (citable) accession number: Q9H2U9
Secondary accession number(s): A8K8X7, O75959
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 109 of the entry and version 3 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 8
    Human chromosome 8: 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

External Data

Dasty 3

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