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Protein

Disintegrin and metalloproteinase domain-containing protein 7

Gene

ADAM7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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).By similarity

GO - Molecular functioni

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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000069206.15
HGNCiHGNC:214 ADAM7
MIMi607310 gene
neXtProtiNX_Q9H2U9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 668ExtracellularSequence analysisAdd BLAST650
Transmembranei669 – 689HelicalSequence analysisAdd BLAST21
Topological domaini690 – 754CytoplasmicSequence analysisAdd BLAST65

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.1 Publication

Organism-specific databases

DisGeNETi8756
OpenTargetsiENSG00000069206
PharmGKBiPA24532

Polymorphism and mutation databases

BioMutaiADAM7
DMDMi296439449

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
PropeptideiPRO_000002905219 – 176By similarityAdd BLAST158
ChainiPRO_0000029053177 – 754Disintegrin and metalloproteinase domain-containing protein 7Add BLAST578

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi84N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi167N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi310 ↔ 389By similarity
Disulfide bondi350 ↔ 373By similarity
Disulfide bondi352 ↔ 357By similarity
Disulfide bondi460 ↔ 480By similarity
Glycosylationi584N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi668N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9H2U9
PeptideAtlasiQ9H2U9
PRIDEiQ9H2U9
ProteomicsDBi80599

PTM databases

iPTMnetiQ9H2U9
PhosphoSitePlusiQ9H2U9

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000069206
CleanExiHS_ADAM7
ExpressionAtlasiQ9H2U9 baseline and differential
GenevisibleiQ9H2U9 HS

Organism-specific databases

HPAiHPA008879

Interactioni

Protein-protein interaction databases

BioGridi114292, 5 interactors
STRINGi9606.ENSP00000175238

Structurei

3D structure databases

ProteinModelPortaliQ9H2U9
SMRiQ9H2U9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini199 – 394Peptidase M12BPROSITE-ProRule annotationAdd BLAST196
Domaini402 – 488DisintegrinPROSITE-ProRule annotationAdd BLAST87

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi489 – 668Cys-richAdd BLAST180

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3607 Eukaryota
ENOG410XX2M LUCA
GeneTreeiENSGT00910000144014
HOGENOMiHOG000207557
HOVERGENiHBG006978
InParanoidiQ9H2U9
KOiK16071
PhylomeDBiQ9H2U9
TreeFamiTF314733

Family and domain databases

CDDicd04269 ZnMc_adamalysin_II_like, 1 hit
Gene3Di3.40.390.10, 1 hit
4.10.70.10, 1 hit
InterProiView protein in InterPro
IPR006586 ADAM_Cys-rich
IPR018358 Disintegrin_CS
IPR001762 Disintegrin_dom
IPR036436 Disintegrin_dom_sf
IPR024079 MetalloPept_cat_dom_sf
IPR001590 Peptidase_M12B
IPR002870 Peptidase_M12B_N
IPR034027 Reprolysin_adamalysin
PfamiView protein in Pfam
PF08516 ADAM_CR, 1 hit
PF00200 Disintegrin, 1 hit
PF01562 Pep_M12B_propep, 1 hit
PF01421 Reprolysin, 1 hit
PRINTSiPR00289 DISINTEGRIN
SMARTiView protein in SMART
SM00608 ACR, 1 hit
SM00050 DISIN, 1 hit
SUPFAMiSSF57552 SSF57552, 1 hit
PROSITEiView protein in PROSITE
PS50215 ADAM_MEPRO, 1 hit
PS00427 DISINTEGRIN_1, 1 hit
PS50214 DISINTEGRIN_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H2U9-1) [UniParc]FASTAAdd to basket

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.

« Hide

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

QSAK
Length:754
Mass (Da):85,669
Last modified:May 18, 2010 - v3
Checksum:iD9E9DF9B5812B0A7
GO
Isoform 2 (identifier: Q9H2U9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     194-210: GIHDEKYVELFIVADDT → VSTLLLSLPQMKHLLFS
     211-754: Missing.

Note: No experimental confirmation available.
Show »
Length:210
Mass (Da):24,414
Checksum:i9DA98150EA3F0499
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti95E → G in AAG43987 (Ref. 1) Curated1
Sequence conflicti369 – 370KF → DL in AAC36742 (Ref. 5) Curated2
Sequence conflicti374S → R in AAC36742 (Ref. 5) Curated1
Sequence conflicti518E → D in AAG43987 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06629614P → S in a cutaneous metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs150319320Ensembl.1
Natural variantiVAR_04672825E → Q. Corresponds to variant dbSNP:rs34852692Ensembl.1
Natural variantiVAR_06629731R → C in a cutaneous metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137990671Ensembl.1
Natural variantiVAR_06629836P → S in a cutaneous metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs267601866Ensembl.1
Natural variantiVAR_066299106H → Y in a cutaneous metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs267601867Ensembl.1
Natural variantiVAR_066300173L → P Detected in a melanoma cell line. 1 Publication1
Natural variantiVAR_066301180V → A in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_046729205I → V. Corresponds to variant dbSNP:rs7829386Ensembl.1
Natural variantiVAR_066302243H → Y in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to laminin-1. 1 Publication1
Natural variantiVAR_046730244V → M. Corresponds to variant dbSNP:rs13255694Ensembl.1
Natural variantiVAR_066303302G → E in a cutaneous metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_066304359M → I in a cutaneous metastatic melanoma sample; somatic mutation; does not affect cell growth but conferes reduced cell adhesion to collagen IV. 1 PublicationCorresponds to variant dbSNP:rs267601868Ensembl.1
Natural variantiVAR_046731453I → T. Corresponds to variant dbSNP:rs3736281Ensembl.1
Natural variantiVAR_066305533G → E in a cutaneous metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs867202281Ensembl.1
Natural variantiVAR_046732570L → V. Corresponds to variant dbSNP:rs2307044Ensembl.1
Natural variantiVAR_066306593F → L Detected in a melanoma cell line. 1 Publication1
Natural variantiVAR_046733638N → H. Corresponds to variant dbSNP:rs13259668Ensembl.1
Natural variantiVAR_066307639E → 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 PublicationCorresponds to variant dbSNP:rs1034941983Ensembl.1
Natural variantiVAR_066308703S → 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 Publication1
Natural variantiVAR_046734735L → P. Corresponds to variant dbSNP:rs6980829Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056602194 – 210GIHDE…VADDT → VSTLLLSLPQMKHLLFS in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_056603211 – 754Missing in isoform 2. 1 PublicationAdd BLAST544

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF215824 mRNA Translation: AAG43987.1
AK292492 mRNA Translation: BAF85181.1
AC024958 Genomic DNA No translation available.
AC120193 Genomic DNA No translation available.
BC058037 mRNA Translation: AAH58037.1
AF090327 mRNA Translation: AAC36742.1
CCDSiCCDS6045.1 [Q9H2U9-1]
RefSeqiNP_003808.2, NM_003817.3 [Q9H2U9-1]
UniGeneiHs.116147

Genome annotation databases

EnsembliENST00000175238; ENSP00000175238; ENSG00000069206 [Q9H2U9-1]
ENST00000441335; ENSP00000393073; ENSG00000069206 [Q9H2U9-2]
GeneIDi8756
KEGGihsa:8756
UCSCiuc003xea.2 human [Q9H2U9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiADAM7_HUMAN
AccessioniPrimary (citable) accession number: Q9H2U9
Secondary accession number(s): A8K8X7, O75959, Q6PEJ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 137 of the entry and version 3 of the sequence. See 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

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