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    ADAM28 ADAM metallopeptidase domain 28 [ Homo sapiens (human) ]

    Gene ID: 10863, updated on 2-Nov-2024

    Summary

    Official Symbol
    ADAM28provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 28provided by HGNC
    Primary source
    HGNC:HGNC:206
    See related
    Ensembl:ENSG00000042980 MIM:606188; AllianceGenome:HGNC:206
    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
    MDCL; MDC-L; eMDCII; ADAM 28; eMDC II
    Summary
    This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) 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 protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Biased expression in stomach (RPKM 21.4), gall bladder (RPKM 11.1) and 12 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ADAM28 in Genome Data Viewer
    Location:
    8p21.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (24294069..24359014)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (24569171..24634154)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (24151582..24216527)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986931 Neighboring gene uncharacterized LOC105379328 Neighboring gene RNA, U1 small nuclear 148, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:23963874-23964511 Neighboring gene MPRA-validated peak6951 silencer Neighboring gene ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:24244666-24245865 Neighboring gene ADAM like decysin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:24312019-24312518 Neighboring gene ADAM metallopeptidase domain 7 Neighboring gene ADAM7 antisense RNA 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables immunoglobulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 28
    Names
    epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II
    epididymial metalloproteinase-like, disintegrin-like, and cysteine-rich protein II
    epididymis secretory sperm binding protein
    metalloproteinase-like, disintegrin-like, and cysteine-rich protein-L
    NP_001291280.1
    NP_055080.2
    NP_068547.2
    XP_005273437.1
    XP_005273439.1
    XP_006716336.1
    XP_006716337.1
    XP_011542669.1
    XP_011542670.1
    XP_011542671.1
    XP_011542673.1
    XP_016868463.1
    XP_016868464.1
    XP_047277226.1
    XP_047277227.1
    XP_047277228.1
    XP_047277229.1
    XP_047277230.1
    XP_054215572.1
    XP_054215573.1
    XP_054215574.1
    XP_054215575.1
    XP_054215576.1
    XP_054215577.1
    XP_054215578.1
    XP_054215579.1
    XP_054215580.1
    XP_054215581.1
    XP_054215582.1
    XP_054215583.1
    XP_054215584.1
    XP_054215585.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_029394.2 RefSeqGene

      Range
      5003..69948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304351.2 → NP_001291280.1  disintegrin and metalloproteinase domain-containing protein 28 isoform 4 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 4 which is shorter than isoform 1.
      Source sequence(s)
      AC120193, AJ242015, AK225921, BC144140, BE833805, BM992381, DA933009
      UniProtKB/TrEMBL
      A0A8V8TMM6
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    2. NM_014265.6 → NP_055080.2  disintegrin and metalloproteinase domain-containing protein 28 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_055080.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as MDC-Lm) encodes the longest isoform (1).
      Source sequence(s)
      AC120193, AJ242015, BE833805, BM992381, DA933009
      Consensus CDS
      CCDS34865.1
      UniProtKB/Swiss-Prot
      B2RMV5, Q9UKQ2, Q9Y339, Q9Y3S0
      UniProtKB/TrEMBL
      A0A8V8TMM6
      Related
      ENSP00000265769.4, ENST00000265769.9
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    3. NM_021777.5 → NP_068547.2  disintegrin and metalloproteinase domain-containing protein 28 isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_068547.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as MDC-Ls) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC120193, AF137335, AJ242015, AK225921, DA933009
      Consensus CDS
      CCDS47830.1
      UniProtKB/TrEMBL
      A0A384NKT9
      Related
      ENSP00000393699.2, ENST00000437154.6
      Conserved Domains (4) summary
      smart00050
      Location:416 → 490
      DISIN; Homologues of snake disintegrins
      cd04269
      Location:204 → 397
      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. ...
      pfam01562
      Location:29 → 156
      Pep_M12B_propep; Reprolysin family propeptide
      cl15456
      Location:493 → 531
      ADAM_CR; ADAM cysteine-rich

    RNA

    1. NR_130709.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several alternate exons and its 3' terminal exon extends past a splice site that is used in variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC120193, AF137335, AK293382, AK303437
    2. NR_130710.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks one alternate internal exon, contains one alternate internal exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC120193, AJ242015, AK293382, AK303437, BC144140, BE833805, BM992381

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      24294069..24359014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273380.5 → XP_005273437.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X4

      UniProtKB/TrEMBL
      A0A8V8TMM6
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    2. XM_017012974.3 → XP_016868463.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TMM6
    3. XM_011544368.4 → XP_011542670.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X6

      See identical proteins and their annotated locations for XP_011542670.1

      UniProtKB/TrEMBL
      A0A8V8TMM6
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    4. XM_017012975.3 → XP_016868464.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X5

      UniProtKB/TrEMBL
      A0A8V8TMM6
    5. XM_006716273.4 → XP_006716336.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TMM6
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    6. XM_011544367.4 → XP_011542669.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TMM6
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    7. XM_047421270.1 → XP_047277226.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X4

    8. XM_006716274.2 → XP_006716337.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X6

      See identical proteins and their annotated locations for XP_006716337.1

      UniProtKB/TrEMBL
      A0A8V8TMM6
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    9. XM_047421271.1 → XP_047277227.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X7

    10. XM_011544369.3 → XP_011542671.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X9

      UniProtKB/TrEMBL
      A0A8V8TMM6
      Conserved Domains (5) summary
      smart00608
      Location:493 → 620
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    11. XM_005273382.2 → XP_005273439.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X10

      Conserved Domains (5) summary
      smart00608
      Location:493 → 610
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:204 → 397
      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:416 → 488
      Disintegrin; Disintegrin
      pfam01421
      Location:204 → 399
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:40 → 155
      Pep_M12B_propep; Reprolysin family propeptide
    12. XM_047421272.1 → XP_047277228.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X8

    13. XM_047421273.1 → XP_047277229.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X11

    14. XM_011544371.4 → XP_011542673.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X12

      Conserved Domains (3) summary
      smart00050
      Location:163 → 237
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:240 → 367
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:1 → 144
      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. ...
    15. XM_047421274.1 → XP_047277230.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X13

      Related
      ENSP00000429484.1, ENST00000521629.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      24569171..24634154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359601.1 → XP_054215576.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X4

    2. XM_054359599.1 → XP_054215574.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X3

    3. XM_054359604.1 → XP_054215579.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X6

    4. XM_054359602.1 → XP_054215577.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X5

    5. XM_054359597.1 → XP_054215572.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X1

    6. XM_054359598.1 → XP_054215573.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X2

    7. XM_054359600.1 → XP_054215575.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X4

    8. XM_054359603.1 → XP_054215578.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X6

    9. XM_054359605.1 → XP_054215580.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X7

    10. XM_054359607.1 → XP_054215582.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X9

    11. XM_054359608.1 → XP_054215583.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X10

    12. XM_054359606.1 → XP_054215581.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X8

    13. XM_054359609.1 → XP_054215584.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X11

    14. XM_054359610.1 → XP_054215585.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X12