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    ADAM11 ADAM metallopeptidase domain 11 [ Homo sapiens (human) ]

    Gene ID: 4185, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ADAM11provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 11provided by HGNC
    Primary source
    HGNC:HGNC:189
    See related
    Ensembl:ENSG00000073670 MIM:155120; AllianceGenome:HGNC:189
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MDC
    Summary
    This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in brain (RPKM 9.4), heart (RPKM 3.1) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAM11 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44758988..44781846)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45612934..45635795)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42836356..42859214)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DBF4B-CDC7 kinase regulatory subunit Neighboring gene ribosomal protein L6 pseudogene 26 Neighboring gene uncharacterized LOC107985044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42830428-42830928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42835997-42836548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42853416-42853916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42856011-42856852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8601 Neighboring gene gap junction protein gamma 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8602 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42907313-42908286 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42908287-42909260 Neighboring gene HIG1 hypoxia inducible domain family member 1B Neighboring gene elongation factor Tu GTP binding domain containing 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human metalloprotease/disintegrin-like (MDC) gene: exon-intron organization and alternative splicing. Katagiri T, et al. Cytogenet Cell Genet, 1995. PMID 7956356
    2. A novel metalloprotease/disintegrin-like gene at 17q21.3 is somatically rearranged in two primary breast cancers. Emi M, et al. Nat Genet, 1993 Oct. PMID 8252040
    3. ADH2 and alcohol-related phenotypes in Ashkenazic Jewish American college students. Shea SH, et al. Behav Genet, 2001 Mar. PMID 11545539
    4. ADAM, a novel family of membrane proteins containing A Disintegrin And Metalloprotease domain: multipotential functions in cell-cell and cell-matrix interactions. Wolfsberg TG, et al. J Cell Biol, 1995 Oct. PMID 7593158, Free PMC Article
    5. Metalloproteinase-like, disintegrin-like, cysteine-rich proteins MDC2 and MDC3: novel human cellular disintegrins highly expressed in the brain. Sagane K, et al. Biochem J, 1998 Aug 15. PMID 9693107, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: ADH2 and alcohol-related phenotypes in Ashkenazic Jewish American college students.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables integrin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in behavioral response to acetic acid induced pain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in behavioral response to formalin induced pain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in establishment of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in integrin-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in multicellular organismal response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 11
    Names
    ADAM 11
    metalloproteinase-like, disintegrin-like, and cysteine-rich protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001318933.2 → NP_001305862.1  disintegrin and metalloproteinase domain-containing protein 11 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate splice site in the 5' coding region resulting in a frameshift and the use of an alternate translation start site. The encoded isoform (3) has a shorter and distinct N-terminus, and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC005180, BC144550, BM557705, BM681070, CD630831, CD630842, CN418442
      Consensus CDS
      CCDS82139.1
      UniProtKB/TrEMBL
      B4DKD2
      Related
      ENSP00000443773.1, ENST00000535346.5
      Conserved Domains (4) summary
      smart00608
      Location:330 → 468
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:39 → 236
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam00200
      Location:253 → 327
      Disintegrin; Disintegrin
      pfam01421
      Location:39 → 238
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease

    2. NM_002390.6 → NP_002381.2  disintegrin and metalloproteinase domain-containing protein 11 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_002381.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB009675, AC005180, BC144550, BM557705, BM681070, CD630831, CD630842, CN418442
      Consensus CDS
      CCDS11486.1
      UniProtKB/Swiss-Prot
      O75078, Q14808, Q14809, Q14810
      Related
      ENSP00000200557.6, ENST00000200557.11
      Conserved Domains (5) summary
      smart00608
      Location:530 → 668
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:239 → 436
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam00200
      Location:453 → 527
      Disintegrin; Disintegrin
      pfam01421
      Location:239 → 438
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:76 → 188
      Pep_M12B_propep; Reprolysin family propeptide

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44758988..44781846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257373.5 → XP_005257430.1  disintegrin and metalloproteinase domain-containing protein 11 isoform X1

      Conserved Domains (5) summary
      smart00608
      Location:530 → 668
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:239 → 436
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam00200
      Location:453 → 527
      Disintegrin; Disintegrin
      pfam01421
      Location:239 → 438
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:76 → 188
      Pep_M12B_propep; Reprolysin family propeptide

    2. XM_047436083.1 → XP_047292039.1  disintegrin and metalloproteinase domain-containing protein 11 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45612934..45635795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316150.1 → XP_054172125.1  disintegrin and metalloproteinase domain-containing protein 11 isoform X1

    2. XM_054316151.1 → XP_054172126.1  disintegrin and metalloproteinase domain-containing protein 11 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75078.3 GenPept UniProtKB/Swiss-Prot:O75078

    Gene LinkOut

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