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

Gene ID: 10863, updated on 27-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
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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
  • 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)

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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.

Genomic

  1. NG_029394.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001304351.2NP_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:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  2. NM_014265.6NP_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:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  3. NM_021777.5NP_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:416490
    DISIN; Homologues of snake disintegrins
    cd04269
    Location:204397
    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:29156
    Pep_M12B_propep; Reprolysin family propeptide
    cl15456
    Location:493531
    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_005273380.5XP_005273437.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X4

    UniProtKB/TrEMBL
    A0A8V8TMM6
    Conserved Domains (5) summary
    smart00608
    Location:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  2. XM_017012974.3XP_016868463.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X3

    UniProtKB/TrEMBL
    A0A8V8TMM6
  3. XM_011544368.4XP_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:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  4. XM_017012975.3XP_016868464.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X5

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

    UniProtKB/TrEMBL
    A0A8V8TMM6
    Conserved Domains (5) summary
    smart00608
    Location:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  6. XM_011544367.4XP_011542669.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TMM6
    Conserved Domains (5) summary
    smart00608
    Location:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  7. XM_047421270.1XP_047277226.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X4

  8. XM_006716274.2XP_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:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  9. XM_047421271.1XP_047277227.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X7

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

    UniProtKB/TrEMBL
    A0A8V8TMM6
    Conserved Domains (5) summary
    smart00608
    Location:493620
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  11. XM_005273382.2XP_005273439.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X10

    Conserved Domains (5) summary
    smart00608
    Location:493610
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:204397
    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:416488
    Disintegrin; Disintegrin
    pfam01421
    Location:204399
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:40155
    Pep_M12B_propep; Reprolysin family propeptide
  12. XM_047421272.1XP_047277228.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X8

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

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

    Conserved Domains (3) summary
    smart00050
    Location:163237
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:240367
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:1144
    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_047421274.1XP_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_054359601.1XP_054215576.1  disintegrin and metalloproteinase domain-containing protein 28 isoform X4

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

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

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

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

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

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

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

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

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

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

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

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

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