ADAM20

ADAM20
Identifikatori
AliasiADAM20
Vanjski ID-jeviOMIM: 603712 MGI: 3045694 HomoloGene: 128364 GeneCards: ADAM20
Lokacija gena (čovjek)
Hromosom 14 (čovjek)
Hrom.Hromosom 14 (čovjek)[1]
Hromosom 14 (čovjek)
Genomska lokacija za ADAM20
Genomska lokacija za ADAM20
Bend14q24.2Početak70,522,358 bp[1]
Kraj70,535,015 bp[1]
Lokacija gena (miš)
Hromosom 8 (miš)
Hrom.Hromosom 8 (miš)[2]
Hromosom 8 (miš)
Genomska lokacija za ADAM20
Genomska lokacija za ADAM20
Bend8|8 A4Početak41,276,027 bp[2]
Kraj41,280,074 bp[2]
Ontologija gena
Molekularna funkcija• GO:0070122 peptidase activity
• metalloendopeptidase activity
• hydrolase activity
• metallopeptidase activity
• vezivanje iona metala
Ćelijska komponenta• integral component of membrane
• ćelijska membrana
• membrana
Biološki proces• Proteoliza
• single fertilization
• binding of sperm to zona pellucida
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez

8748

546055

Ensembl

ENSG00000134007

ENSMUSG00000054033

UniProt

O43506

Q7M762

RefSeq (mRNK)

NM_003814

NM_001025380

RefSeq (bjelančevina)

NP_003805

NP_001020551

Lokacija (UCSC)Chr 14: 70.52 – 70.54 MbChr 8: 41.28 – 41.28 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Protein 20 koji sadrži domen dezintegrina i metaloproteinaze je enzim koji je kod ljudi kodiran genom ADAM20 . To je membranska dezintegrin-metaloproteinaza koja pripada porodici ADAM. Eksprimira se isključivo u testisma i slična je fertilinima -alfa i -beta specifičnim za spermatozoide.

Njegova cDNK je usko povezana s markerom SHGC-36001 na hromosomu 14, sekvenca q24.1. ADAM20 je povezan s fertilinom α (pseudogen ADAM1A/B), fertilinom β (ADAM2) i fertilinom γ (ADAM9). Kod ljudi, fertilin α je nedavno deaktiviran tako da bi ADAM20 mogao biti funkcionalni ekvivalent fertilina α kod ljudi.[5]

Aminokiselinska sekvenca

1020304050
MAVGEPLVHIRVTLLLLWFGMFLSISGHSQARPSQYFTSPEVVIPLKVIS
RGRGAKAPGWLSYSLRFGGQRYIVHMRVNKLLFAAHLPVFTYTEQHALLQ
DQPFIQDDCYYHGYVEGVPESLVALSTCSGGFLGMLQINDLVYEIKPISV
SATFEHLVYKIDSDDTQFPPMRCGLTEEKIAHQMELQLSYNFTLKQSSFV
GWWTHQRFVELVVVVDNIRYLFSQSNATTVQHEVFNVVNIVDSFYHPLEV
DVILTGIDIWTASNPLPTSGDLDNVLEDFSIWKNYNLNNRLQHDVAHLFI
KDTQGMKLGVAYVKGICQNPFNTGVDVFEDNRLVVFAITLGHELGHNLGM
QHDTQWCVCELQWCIMHAYRKVTTKFSNCSYAQYWDSTISSGLCIQPPPY
PGNIFRLKYCGNLVVEEGEECDCGTIRQCAKDPCCLLNCTLHPGAACAFG
ICCKDCKFLPSGTLCRQQVGECDLPEWCNGTSHQCPDDVYVQDGISCNVN
AFCYEKTCNNHDIQCKEIFGQDARSASQSCYQEINTQGNRFGHCGIVGTT
YVKCWTPDIMCGRVQCENVGVIPNLIEHSTVQQFHLNDTTCWGTDYHLGM
AIPDIGEVKDGTVCGPEKICIRKKCASMVHLSQACQPKTCNMRGICNNKQ
HCHCNHEWAPPYCKDKGYGGSADSGPPPKNNMEGLNVMGKLRYLSLLCLL
PLVAFLLFCLHVLFKKRTKSKEDEEG

Struktura

Izračunata struktura proteina ADAM 20 [6] Signalna i propeptidna mjesta su uklonjena jer bi se cijepala u aktivnom obliku. Vanželijski domeni su označeni crvenom bojom, spiralni domeni su žutom, a citoplazmatski domeni su plavom bojom.

Zajedno s drugim članovima ADAM porodice, ADAM20 sadrži N-terminalni propeptid iz porodice reprolizina (ostaci 57–159), domen cink -metaloproteinaze iz porodice reprolizina (M12B) (207–395), domen dezintegrina (416–488) i C-terminalni domen bogat cisteinom ADAM-a (493–605).[7]

Propeptid djeluje kao signalni peptid i aktivatorski domen. Ovaj prodomen sadrži cistein koji interraguje sa cinkom u katalitskom domenu, čime se sprečava katalitska aktivnost proteina. Kada se proproteinski domen cijepa, ova veza cistein-cink se prekida i protein se aktivira..[8] Značajna varijanta pokazala je razliku u aminokiselinama u proproteinskom domenu koja je spriječila cijepanje ovog domena, što je spriječilo fuziju spermatozoida sajajnom ćelijom.[9]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134007 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054033 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hooft van Huijsduijnen R (januar 1998). "ADAM 20 and 21; two novel human testis-specific membrane metalloproteases with similarity to fertilin-alpha". Gene. 206 (2): 273–82. doi:10.1016/s0378-1119(97)00597-0. PMID 9469942.
  6. ^ "Computed structure model of Disintegrin and metalloproteinase domain-containing protein 20". Research Collaboratory for Structural Bioinformatics (RCSB) Protein Data Bank.
  7. ^ "Disintegrin and metalloproteinase domain-containing protein 20". Pfam – preko InterPro.
  8. ^ Van Wart HE, Birkedal-Hansen H (juli 1990). "The cysteine switch: a principle of regulation of metalloproteinase activity with potential applicability to the entire matrix metalloproteinase gene family". Proceedings of the National Academy of Sciences of the United States of America. 87 (14): 5578–82. Bibcode:1990PNAS...87.5578V. doi:10.1073/pnas.87.14.5578. PMC 54368. PMID 2164689.
  9. ^ Sha YW, Xu X, Ji ZY, Mei LB, Qiu PP, Ji H, Li P, Li L, Liu WW (januar 2018). "Sperm-egg fusion disorder in a Chinese male patient was associated with a rare ADAM20 variant". Oncotarget. 9 (2): 2086–2091. doi:10.18632/oncotarget.23331. PMC 5788623. PMID 29416755.

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