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ADTRP androgen dependent TFPI regulating protein [ Homo sapiens (human) ]

Gene ID: 84830, updated on 2-Nov-2024

Summary

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Official Symbol
ADTRPprovided by HGNC
Official Full Name
androgen dependent TFPI regulating proteinprovided by HGNC
Primary source
HGNC:HGNC:21214
See related
Ensembl:ENSG00000111863 MIM:614348; AllianceGenome:HGNC:21214
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AIG1L; C6orf105; dJ413H6.1
Summary
Enables hydrolase activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; negative regulation of secretion by cell; and positive regulation of macromolecule metabolic process. Located in caveola and cell surface. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in small intestine (RPKM 12.0), duodenum (RPKM 8.7) and 8 other tissues See more
Orthologs
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Genomic context

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See ADTRP in Genome Data Viewer
Location:
6p24.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (11713523..11778803, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (11581768..11675389, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (11713756..11779036, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11538275-11538776 Neighboring gene transmembrane protein 170B Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:11609547-11610088 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:11650363-11650968 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:11650969-11651574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16917 Neighboring gene uncharacterized LOC340184 Neighboring gene small nucleolar RNA SNORA67 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23991 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:11722447-11723646 Neighboring gene uncharacterized LOC124901258 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_88259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23993 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:11763549-11763791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11770197-11770720 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr6:11770721-11771242 and GRCh37_chr6:11771243-11771766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11794232-11794800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11794801-11795369 Neighboring gene uncharacterized LOC107986567 Neighboring gene uncharacterized LOC124901257 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:11834142-11834332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23994 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:11838380-11838562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23997 Neighboring gene uncharacterized LOC102724379 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 4

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. Androgen-dependent tissue factor pathway inhibitor regulating protein: a review of its peripheral actions and association with cardiometabolic diseases. Kee Z, et al. J Mol Med (Berl), 2022 Feb. PMID 34797389
  2. Detection of ADTRP in circulation and its role as a novel biomarker for coronary artery disease. Ooi DSQ, et al. PLoS One, 2020. PMID 32790694, Free PMC Article
  3. Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population. Wang F, et al. Nat Genet, 2011 Mar 6. PMID 21378986
  4. Androgen inhibits key atherosclerotic processes by directly activating ADTRP transcription. Luo C, et al. Biochim Biophys Acta Mol Basis Dis, 2017 Sep. PMID 28645652, Free PMC Article
  5. Association of single nucleotide polymorphism rs6903956 on chromosome 6p24.1 with coronary artery disease and lipid levels in different ethnic groups of the Singaporean population. Tayebi N, et al. Clin Biochem, 2013 Jun. PMID 23337689

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Androgen-dependent tissue factor pathway inhibitor regulating protein: a review of its peripheral actions and association with cardiometabolic diseases.
    Title: Androgen-dependent tissue factor pathway inhibitor regulating protein: a review of its peripheral actions and association with cardiometabolic diseases.
  2. GATA2 regulates the CAD susceptibility gene ADTRP rs6903956 through preferential interaction with the G allele.
    Title: GATA2 regulates the CAD susceptibility gene ADTRP rs6903956 through preferential interaction with the G allele.
  3. Detection of ADTRP in circulation and its role as a novel biomarker for coronary artery disease.
    Title: Detection of ADTRP in circulation and its role as a novel biomarker for coronary artery disease.
  4. Data identify POU1F1 as a transcription factor that regulates TFPI transcription in response to ADTRP, and link POU1F1 variants to risk of CAD for the first time.
    Title: ADTRP regulates TFPI expression via transcription factor POU1F1 involved in coronary artery disease.
  5. These data suggest that one molecular mechanism by which androgen confers protection against coronary artery disease is stimulation of ADTRP expression.
    Title: Androgen inhibits key atherosclerotic processes by directly activating ADTRP transcription.
  6. ADTRP positively regulates PIK3R3 expression, which leads to activation of AKT and up-regulation of MIA3/TANGO1, thereby regulating endothelial cell functions directly relevant to atherosclerosis.
    Title: Identification of a molecular signaling gene-gene regulatory network between GWAS susceptibility genes ADTRP and MIA3/TANGO1 for coronary artery disease.
  7. ADTRP increases the number of S phase cells during cell cycle.
    Title: Coronary artery disease susceptibility gene ADTRP regulates cell cycle progression, proliferation, and apoptosis by global gene expression regulation.
  8. These results indicate that AIG1 and ADTRP are founding members of an evolutionarily conserved class of transmembrane threonine hydrolases involved in bioactive lipid metabolism.
    Title: AIG1 and ADTRP are atypical integral membrane hydrolases that degrade bioactive FAHFAs.
  9. association of ADTRP with the pathogenesis of early-onset CAD
    Title: Common Variants in Promoter of ADTRP Associate with Early-Onset Coronary Artery Disease in a Southern Han Chinese Population.
  10. SNP rs6903956 associated with asymptomatic hyperuricemia susceptibility in Han Chinese
    Title: A coronary artery disease-associated SNP rs6903956 contributed to asymptomatic hyperuricemia susceptibility in Han Chinese.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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

EBI GWAS Catalog

Description
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC12335

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydrolase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell migration involved in sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to oxidised low-density lipoprotein particle stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to steroid hormone stimulus IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in long-chain fatty acid catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of blood coagulation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of extracellular matrix constituent secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of leukocyte cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of leukocyte migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of lymphocyte migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in caveola IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
androgen-dependent TFPI-regulating protein
Names
FAHFA hydrolase ADTRP
androgen-dependent TPF1-regulating protein
fatty acid esters of hydroxy fatty acids hydrolase ADTRP

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_001143948.2 → NP_001137420.1  androgen-dependent TFPI-regulating protein isoform 1

    See identical proteins and their annotated locations for NP_001137420.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI147084, AI336841, AJ420520, AK300919, AL022724
    Consensus CDS
    CCDS47374.1
    UniProtKB/Swiss-Prot
    Q96IZ2
    Related
    ENSP00000229583.5, ENST00000229583.9
    Conserved Domains (1) summary
    pfam04750
    Location:5 → 234
    Far-17a_AIG1; FAR-17a/AIG1-like protein

  2. NM_032744.4 → NP_116133.1  androgen-dependent TFPI-regulating protein isoform 2

    See identical proteins and their annotated locations for NP_116133.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AI147084, AI336841, AJ420520, AL022724, BC007011
    Consensus CDS
    CCDS4521.1
    UniProtKB/Swiss-Prot
    B2R7T9, B4DV39, Q5THW1, Q96IZ2
    Related
    ENSP00000404416.2, ENST00000414691.8
    Conserved Domains (1) summary
    pfam04750
    Location:5 → 216
    Far-17a_AIG1; FAR-17a/AIG1-like protein

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    11713523..11778803 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514956.2 → XP_011513258.1  androgen-dependent TFPI-regulating protein isoform X1

    See identical proteins and their annotated locations for XP_011513258.1

    UniProtKB/Swiss-Prot
    Q96IZ2
    Conserved Domains (1) summary
    pfam04750
    Location:5 → 216
    Far-17a_AIG1; FAR-17a/AIG1-like protein

  2. XM_047419420.1 → XP_047275376.1  androgen-dependent TFPI-regulating protein isoform X6

  3. XM_047419418.1 → XP_047275374.1  androgen-dependent TFPI-regulating protein isoform X2

  4. XM_011514958.3 → XP_011513260.1  androgen-dependent TFPI-regulating protein isoform X3

    UniProtKB/TrEMBL
    A0A088AWK6, A0A0E3D6L3, A0A0U1RVL0, D6R9A9, D6R9E5
    Conserved Domains (1) summary
    pfam04750
    Location:5 → 169
    Far-17a_AIG1; FAR-17a/AIG1-like protein

  5. XM_011514959.2 → XP_011513261.1  androgen-dependent TFPI-regulating protein isoform X4

    UniProtKB/TrEMBL
    A0A088AWK6, A0A0E3D6L3, A0A0U1RVL0, D6R9A9, D6R9E5
    Related
    ENSP00000368726.2, ENST00000379415.6
    Conserved Domains (1) summary
    pfam04750
    Location:5 → 169
    Far-17a_AIG1; FAR-17a/AIG1-like protein

  6. XM_047419419.1 → XP_047275375.1  androgen-dependent TFPI-regulating protein isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    11581768..11675389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356589.1 → XP_054212564.1  androgen-dependent TFPI-regulating protein isoform X7

    UniProtKB/Swiss-Prot
    B2R7T9, B4DV39, Q5THW1, Q96IZ2

  2. XM_054356586.1 → XP_054212561.1  androgen-dependent TFPI-regulating protein isoform X1

  3. XM_054356587.1 → XP_054212562.1  androgen-dependent TFPI-regulating protein isoform X1

  4. XM_054356591.1 → XP_054212566.1  androgen-dependent TFPI-regulating protein isoform X7

    UniProtKB/Swiss-Prot
    B2R7T9, B4DV39, Q5THW1, Q96IZ2

  5. XM_054356590.1 → XP_054212565.1  androgen-dependent TFPI-regulating protein isoform X7

    UniProtKB/Swiss-Prot
    B2R7T9, B4DV39, Q5THW1, Q96IZ2

  6. XM_054356588.1 → XP_054212563.1  androgen-dependent TFPI-regulating protein isoform X7

    UniProtKB/Swiss-Prot
    B2R7T9, B4DV39, Q5THW1, Q96IZ2

  7. XM_054356585.1 → XP_054212560.1  androgen-dependent TFPI-regulating protein isoform X1

  8. XM_054356596.1 → XP_054212571.1  androgen-dependent TFPI-regulating protein isoform X6

  9. XM_054356592.1 → XP_054212567.1  androgen-dependent TFPI-regulating protein isoform X2

  10. XM_054356593.1 → XP_054212568.1  androgen-dependent TFPI-regulating protein isoform X3

  11. XM_054356594.1 → XP_054212569.1  androgen-dependent TFPI-regulating protein isoform X4

  12. XM_054356595.1 → XP_054212570.1  androgen-dependent TFPI-regulating protein isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96IZ2.1 GenPept UniProtKB/Swiss-Prot:Q96IZ2

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