ADAM33 ADAM metallopeptidase domain 33 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAM33provided by HGNC
Official Full Name: ADAM metallopeptidase domain 33provided by HGNC
Primary source: HGNC:HGNC:15478
See related: Ensembl:ENSG00000149451 MIM:607114; AllianceGenome:HGNC:15478
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: C20orf153; DJ964F7.1
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. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
Expression: Broad expression in endometrium (RPKM 33.9), gall bladder (RPKM 16.7) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3667975..3682010, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3698909..3712954, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3648622..3662657, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evaluation of the association between clinical parameters and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with the severity of COVID-19.
Title: Evaluation of the association between clinical parameters and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with the severity of COVID-19.
The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is Associated with Clinical Markers in Patients with Severe COVID-19.
Title: The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is Associated with Clinical Markers in Patients with Severe COVID-19.
Role of ADAM33 short isoform as a tumor suppressor in the pathogenesis of thyroid cancer via oncogenic function disruption of full-length ADAM33.
Title: Role of ADAM33 short isoform as a tumor suppressor in the pathogenesis of thyroid cancer via oncogenic function disruption of full-length ADAM33.
The strong correlation between ADAM33 expression and airway inflammation in chronic obstructive pulmonary disease and candidate for biomarker and treatment of COPD.
Title: The strong correlation between ADAM33 expression and airway inflammation in chronic obstructive pulmonary disease and candidate for biomarker and treatment of COPD.
Signatures for chronic obstructive pulmonary disease (COPD) and asthma: a comparative genetic analysis.
Title: Signatures for chronic obstructive pulmonary disease (COPD) and asthma: a comparative genetic analysis.
Silencing a disintegrin and metalloproteinase33 attenuates the proliferation of vascular smooth muscle cells via PI3K/AKT pathway: Implications in the pathogenesis of airway vascular remodeling.
Title: Silencing a disintegrin and metalloproteinase‑33 attenuates the proliferation of vascular smooth muscle cells via PI3K/AKT pathway: Implications in the pathogenesis of airway vascular remodeling.
ADAM33 rs2280090 and rs2280091 may be associated with asthma in a pilot case-control study
Title: Haplotype analysis of ADAM33 polymorphisms in asthma: A pilot study.
The rs2280089, rs2280090, and rs2280091 SNPs of ADAM33 appeared to be non-significant for asthma susceptibility in Northern and Central Punjabi population.
Title: Evaluation of ADAM33 gene's single nucleotide polymorphism variants against asthma and the unique pattern of inheritance in Northern and Central Punjab, Pakistan.
In a case-control study ADAM33 rs678881 polymorphism significantly increased the risk of childhood asthma in Chinese Han population, but not rs2280089 or rs2853209.
Title: Genetic association of ADAM33 polymorphisms with childhood asthma in Chinese Han population: A case-control study.
ADAM33 F+1 mutant gene A may increase the risk of chronic obstructive pulmonary disease among the Asian population, while it may not associate with the European population
Title: Association between F+1 polymorphism in a disintegrin and metalloprotease 33 (ADAM33) gene and chronic obstructive pulmonary disease susceptibility: An evidence-based meta-analysis.

Submit: New GeneRIF Correction See all GeneRIFs (123)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC196627P1 (e-PCR)
- UniSTS:271817

PMC196627P2 (e-PCR)
- UniSTS:271818

PMC196627P3 (e-PCR)
- UniSTS:271819

PMC196627P4 (e-PCR)
- UniSTS:271820

NoName (e-PCR)
- UniSTS:482550

Clone Names

FLJ35308, FLJ36751, MGC71889, MGC149823, DKFZp434K0521

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: disintegrin and metalloproteinase domain-containing protein 33

Names: ADAM 33; a disintegrin and metalloprotease 33; a disintegrin and metalloproteinase domain 33; disintegrin and reprolysin metalloproteinase family 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)

NM_001282447.3 → NP_001269376.1 disintegrin and metalloproteinase domain-containing protein 33 isoform gamma precursor

See identical proteins and their annotated locations for NP_001269376.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform gamma), compared to isoform alpha. The encoded isoform (gamma) may undergo proteolytic processing similar to isoform alpha.

Source sequence(s)

AF466287, AK126487, AL356755

Consensus CDS

CCDS63219.1

UniProtKB/TrEMBL

A2A2L3, Q08AM2

Related

ENSP00000369190.4, ENST00000379861.8

Conserved Domains (5) summary

smart00050
Location:426 → 500

DISIN; Homologues of snake disintegrins

smart00608
Location:502 → 644

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:210 → 407

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. ...

pfam01421
Location:210 → 409

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 164

Pep_M12B_propep; Reprolysin family propeptide
NM_025220.5 → NP_079496.1 disintegrin and metalloproteinase domain-containing protein 33 isoform alpha preproprotein

See identical proteins and their annotated locations for NP_079496.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (alpha).

Source sequence(s)

AL356755, AY358314

Consensus CDS

CCDS13058.1

UniProtKB/Swiss-Prot

A0A1K6, Q5JT75, Q5JT76, Q8N0W6, Q9BZ11

UniProtKB/TrEMBL

Q08AM2

Related

ENSP00000348912.3, ENST00000356518.7

Conserved Domains (5) summary

smart00050
Location:426 → 500

DISIN; Homologues of snake disintegrins

smart00608
Location:502 → 644

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:210 → 407

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. ...

pfam01421
Location:210 → 409

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 164

Pep_M12B_propep; Reprolysin family propeptide
NM_153202.4 → NP_694882.1 disintegrin and metalloproteinase domain-containing protein 33 isoform beta precursor

See identical proteins and their annotated locations for NP_694882.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. It encodes isoform beta, which lacks an internal segment, but has the same N- and C-termini as isoform alpha. The encoded isoform (beta) may undergo proteolytic processing similar to isoform alpha.

Source sequence(s)

AK126487, AL356755, DB225158

UniProtKB/TrEMBL

Q08AM2

Related

ENSP00000322550.5, ENST00000350009.6

Conserved Domains (5) summary

smart00050
Location:426 → 500

DISIN; Homologues of snake disintegrins

smart00608
Location:502 → 643

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:210 → 407

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. ...

pfam01421
Location:210 → 409

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 164

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

3667975..3682010 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529367.2 → XP_011527669.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X5

UniProtKB/TrEMBL

Q08AM2

Conserved Domains (5) summary

smart00050
Location:425 → 499

DISIN; Homologues of snake disintegrins

smart00608
Location:501 → 643

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:209 → 406

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. ...

pfam01421
Location:209 → 408

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:88 → 163

Pep_M12B_propep; Reprolysin family propeptide
XM_011529366.2 → XP_011527668.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X3

UniProtKB/TrEMBL

Q08AM2

Conserved Domains (5) summary

smart00050
Location:438 → 512

DISIN; Homologues of snake disintegrins

smart00608
Location:514 → 656

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:222 → 419

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. ...

pfam01421
Location:222 → 421

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:88 → 176

Pep_M12B_propep; Reprolysin family propeptide
XM_006723640.2 → XP_006723703.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X4

UniProtKB/TrEMBL

Q08AM2

Conserved Domains (5) summary

smart00050
Location:436 → 510

DISIN; Homologues of snake disintegrins

smart00608
Location:512 → 654

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:223 → 417

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. ...

pfam01421
Location:223 → 419

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 177

Pep_M12B_propep; Reprolysin family propeptide
XM_047440516.1 → XP_047296472.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X7
XM_047440515.1 → XP_047296471.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X6
XM_047440514.1 → XP_047296470.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X2
XM_005260843.2 → XP_005260900.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X1

UniProtKB/TrEMBL

Q08AM2

Conserved Domains (5) summary

smart00050
Location:439 → 513

DISIN; Homologues of snake disintegrins

smart00608
Location:515 → 657

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:223 → 420

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. ...

pfam01421
Location:223 → 422

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 177

Pep_M12B_propep; Reprolysin family propeptide
XM_011529370.2 → XP_011527672.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X8

See identical proteins and their annotated locations for XP_011527672.1

Conserved Domains (5) summary

smart00050
Location:439 → 513

DISIN; Homologues of snake disintegrins

cd04269
Location:223 → 420

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. ...

pfam01421
Location:223 → 422

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 177

Pep_M12B_propep; Reprolysin family propeptide

cl15456
Location:515 → 548

ADAM_CR; ADAM cysteine-rich
XM_047440517.1 → XP_047296473.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X8
XM_017028081.3 → XP_016883570.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X11
XM_011529371.3 → XP_011527673.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X9

Conserved Domains (2) summary

cd04269
Location:223 → 343

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:83 → 177

Pep_M12B_propep; Reprolysin family propeptide
XM_017028080.3 → XP_016883569.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X10
XM_006723644.3 → XP_006723707.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X12

Conserved Domains (4) summary

smart00050
Location:439 → 479

DISIN; Homologues of snake disintegrins

cd04269
Location:223 → 420

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. ...

pfam01421
Location:223 → 422

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:83 → 177

Pep_M12B_propep; Reprolysin family propeptide
XM_017028083.2 → XP_016883572.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X14

UniProtKB/TrEMBL

B4E1Y6
XM_017028082.2 → XP_016883571.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X13

RNA

XR_937152.2 RNA Sequence
XR_937151.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

3698909..3712954 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324050.1 → XP_054180025.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X5
XM_054324048.1 → XP_054180023.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X3
XM_054324049.1 → XP_054180024.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X4
XM_054324052.1 → XP_054180027.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X7
XM_054324051.1 → XP_054180026.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X6
XM_054324047.1 → XP_054180022.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X2
XM_054324046.1 → XP_054180021.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X1
XM_054324054.1 → XP_054180029.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X8
XM_054324053.1 → XP_054180028.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X8
XM_054324057.1 → XP_054180032.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X11
XM_054324055.1 → XP_054180030.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X9
XM_054324056.1 → XP_054180031.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X10
XM_054324058.1 → XP_054180033.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X12
XM_054324060.1 → XP_054180035.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X14
XM_054324059.1 → XP_054180034.1 disintegrin and metalloproteinase domain-containing protein 33 isoform X13