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

    Gene ID: 84830, updated on 10-Dec-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, Dec 2024]
    Expression
    Biased expression in small intestine (RPKM 12.0), duodenum (RPKM 8.7) and 8 other tissues See more
    Orthologs
    mouse all
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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
    • 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)

    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

      UniProtKB/TrEMBL
      H0YAA5

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

      UniProtKB/TrEMBL
      A0A088AWK6, A0A0E3D6L3, A0A0U1RVL0, D6R9A9, D6R9E5

    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

      UniProtKB/TrEMBL
      H0YAA5

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

      UniProtKB/TrEMBL
      A0A088AWK6, A0A0E3D6L3, A0A0U1RVL0, D6R9A9, D6R9E5

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

      UniProtKB/TrEMBL
      A0A088AWK6, A0A0E3D6L3, A0A0U1RVL0, D6R9A9, D6R9E5

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

      UniProtKB/TrEMBL
      A0A088AWK6, A0A0E3D6L3, A0A0U1RVL0, D6R9A9, D6R9E5

    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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