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

Gene ID: 4185, updated on 5-Mar-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
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Genomic context

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Location:
17q21.31
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44758988..44781846)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45612934..45635795)
105.20220307 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
  • 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. ADH2 and alcohol-related phenotypes in Ashkenazic Jewish American college students. Shea SH, et al. Behav Genet, 2001 Mar. PMID 11545539
  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. Human metalloprotease/disintegrin-like (MDC) gene: exon-intron organization and alternative splicing. Katagiri T, et al. Cytogenet Cell Genet, 1995. PMID 7956356
  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)

Genotypes

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_2023_10

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

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