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    ADCY5 adenylate cyclase 5 [ Homo sapiens (human) ]

    Gene ID: 111, updated on 1-Oct-2024

    Summary

    Official Symbol
    ADCY5provided by HGNC
    Official Full Name
    adenylate cyclase 5provided by HGNC
    Primary source
    HGNC:HGNC:236
    See related
    Ensembl:ENSG00000173175 MIM:600293; AllianceGenome:HGNC:236
    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
    AC5; FDFM; DSKOD
    Summary
    This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in heart (RPKM 22.9), brain (RPKM 7.3) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADCY5 in Genome Data Viewer
    Location:
    3q21.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (123282296..123449090, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (126002377..126169667, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (123001143..123167937, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein disulfide isomerase family A member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20392 Neighboring gene microRNA 7110 Neighboring gene MPRA-validated peak4799 silencer Neighboring gene SEC22 homolog A, vesicle trafficking protein Neighboring gene ReSE screen-validated silencer GRCh37_chr3:123014237-123014442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123028841-123029342 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123033477-123034370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123034371-123035262 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123038080-123038986 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123038987-123039893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123047195-123047696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123047697-123048196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123049418-123050205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123062389-123063058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123068286-123068786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123069872-123070850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123104604-123105104 Neighboring gene uncharacterized LOC124909420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123105105-123105605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123130683-123131208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123132020-123132563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:123166099-123166998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123178428-123178928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:123178929-123179429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14647 Neighboring gene 3-hydroxyacyl-CoA dehydratase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20393 Neighboring gene MPRA-validated peak4801 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20394 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 Neighboring gene MYLK antisense RNA 1 Neighboring gene myosin light chain kinase

    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
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    EBI GWAS Catalog
    New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
    EBI GWAS Catalog
    Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The addition of HIV-1 gp120 with TNF-alpha to human B-cells stimulates cAMP production in a dose-dependent manner PubMed
    Envelope transmembrane glycoprotein gp41 env Secretion of IL-10 is upregulated by HIV-1 gp41 in monocytes through activation of cAMP/adenylate cyclase and p70 (S6)-kinase; up-regulation of IL-10 is paralleled by an enhanced expression of the chemokine receptor CCR5 PubMed
    Nef nef HIV-1 induces the upregulation of complement factor C3 in astrocytes and neurons through signaling pathways that involve protein kinase C and adenylate cyclase activation, which is an effect that may contribute to the pathogenesis of AIDS in the brain PubMed

    Go to the HIV-1, Human Interaction Database

    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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables adenylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenylate cyclase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenylate cyclase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables adenylate cyclase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables scaffold protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled adenosine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adenylate cyclase-activating dopamine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cAMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cAMP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to forskolin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    adenylate cyclase type 5
    Names
    ATP pyrophosphate-lyase 5
    adenylate cyclase type V
    adenylyl cyclase 5
    epididymis secretory sperm binding protein
    NP_001186571.1
    NP_001365188.1
    NP_899200.1
    XP_005247135.1
    XP_006713546.1
    XP_006713547.1
    XP_011510661.1
    XP_011510662.1
    XP_011510663.1
    XP_016861127.1
    XP_016861128.1
    XP_047303315.1
    XP_047303316.1
    XP_047303317.1
    XP_047303318.1
    XP_047303319.1
    XP_047303320.1
    XP_047303321.1
    XP_054201034.1
    XP_054201035.1
    XP_054201036.1
    XP_054201037.1
    XP_054201038.1
    XP_054201039.1
    XP_054201040.1
    XP_054201041.1
    XP_054201042.1
    XP_054201043.1
    XP_054201044.1
    XP_054201045.1
    XP_054201046.1
    XP_054201047.1
    XP_054201048.1

    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_033882.1 RefSeqGene

      Range
      4456..171250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199642.1NP_001186571.1  adenylate cyclase type 5 isoform 2

      See identical proteins and their annotated locations for NP_001186571.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC112503, AK303070
      Consensus CDS
      CCDS56274.1
      UniProtKB/TrEMBL
      A0A8V8TNW3
      Related
      ENSP00000308685.5, ENST00000309879.9
      Conserved Domains (4) summary
      smart00044
      Location:74269
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:712906
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:318410
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:27108
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    2. NM_001378259.1NP_001365188.1  adenylate cyclase type 5 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC025571, AC112503
      Consensus CDS
      CCDS93353.1
      UniProtKB/TrEMBL
      A0A8V8TP58
      Related
      ENSP00000514543.1, ENST00000699718.1
      Conserved Domains (3) summary
      pfam00211
      Location:10871281
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam16214
      Location:1458
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
      pfam06327
      Location:668760
      DUF1053; Domain of Unknown Function (DUF1053)
    3. NM_183357.3NP_899200.1  adenylate cyclase type 5 isoform 1

      See identical proteins and their annotated locations for NP_899200.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC025571, AC112503, AF497517
      Consensus CDS
      CCDS3022.1
      UniProtKB/Swiss-Prot
      B7Z8A6, O95622, Q7RTV7, Q8NFM3
      UniProtKB/TrEMBL
      A0A384P5Q5
      Related
      ENSP00000419361.1, ENST00000462833.6
      Conserved Domains (3) summary
      pfam00211
      Location:10621256
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:668760
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:1458
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      123282296..123449090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512359.3XP_011510661.1  adenylate cyclase type 5 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TNW3
      Conserved Domains (4) summary
      smart00044
      Location:91286
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:754948
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:335427
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:46125
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    2. XM_047447359.1XP_047303315.1  adenylate cyclase type 5 isoform X4

      UniProtKB/TrEMBL
      A0A8V8TNW3
    3. XM_005247078.1XP_005247135.1  adenylate cyclase type 5 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TNW3
      Conserved Domains (4) summary
      smart00044
      Location:74269
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:737931
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:318410
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:27108
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    4. XM_006713484.2XP_006713547.1  adenylate cyclase type 5 isoform X11

      See identical proteins and their annotated locations for XP_006713547.1

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
      Related
      ENSP00000514539.1, ENST00000699714.1
      Conserved Domains (4) summary
      smart00044
      Location:3178
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:646840
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:227319
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:117
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    5. XM_011512361.2XP_011510663.1  adenylate cyclase type 5 isoform X11

      See identical proteins and their annotated locations for XP_011510663.1

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
      Related
      ENSP00000420082.2, ENST00000466617.6
      Conserved Domains (4) summary
      smart00044
      Location:3178
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:646840
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:227319
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:117
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    6. XM_047447364.1XP_047303320.1  adenylate cyclase type 5 isoform X11

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
    7. XM_047447361.1XP_047303317.1  adenylate cyclase type 5 isoform X9

      UniProtKB/TrEMBL
      A0A8V8TNW3
      Related
      ENSP00000514541.1, ENST00000470367.2
    8. XM_017005639.1XP_016861128.1  adenylate cyclase type 5 isoform X6

      UniProtKB/TrEMBL
      A0A8V8TNW3
    9. XM_017005638.1XP_016861127.1  adenylate cyclase type 5 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNW3
    10. XM_047447362.1XP_047303318.1  adenylate cyclase type 5 isoform X10

      UniProtKB/TrEMBL
      A0A8V8TNW3
    11. XM_006713483.2XP_006713546.1  adenylate cyclase type 5 isoform X7

      See identical proteins and their annotated locations for XP_006713546.1

      UniProtKB/TrEMBL
      A0A8V8TNW3, B3KWA8
      Related
      ENSP00000418537.1, ENST00000491190.5
      Conserved Domains (4) summary
      smart00044
      Location:57252
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:720914
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:301393
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:1191
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    12. XM_047447363.1XP_047303319.1  adenylate cyclase type 5 isoform X11

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
      Related
      ENSP00000420252.2, ENST00000483566.2
    13. XM_011512360.3XP_011510662.1  adenylate cyclase type 5 isoform X5

      UniProtKB/TrEMBL
      A0A8V8TNW3
      Conserved Domains (4) summary
      smart00044
      Location:61256
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:724918
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam06327
      Location:305397
      DUF1053; Domain of Unknown Function (DUF1053)
      pfam16214
      Location:1495
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    14. XM_047447360.1XP_047303316.1  adenylate cyclase type 5 isoform X8

      UniProtKB/TrEMBL
      A0A8V8TNW3
    15. XM_047447365.1XP_047303321.1  adenylate cyclase type 5 isoform X12

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      126002377..126169667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345059.1XP_054201034.1  adenylate cyclase type 5 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TNW3
    2. XM_054345062.1XP_054201037.1  adenylate cyclase type 5 isoform X4

      UniProtKB/TrEMBL
      A0A8V8TNW3
    3. XM_054345061.1XP_054201036.1  adenylate cyclase type 5 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TNW3
    4. XM_054345069.1XP_054201044.1  adenylate cyclase type 5 isoform X11

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
    5. XM_054345070.1XP_054201045.1  adenylate cyclase type 5 isoform X11

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
    6. XM_054345072.1XP_054201047.1  adenylate cyclase type 5 isoform X11

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
    7. XM_054345067.1XP_054201042.1  adenylate cyclase type 5 isoform X9

      UniProtKB/TrEMBL
      A0A8V8TNW3
    8. XM_054345064.1XP_054201039.1  adenylate cyclase type 5 isoform X6

      UniProtKB/TrEMBL
      A0A8V8TNW3
    9. XM_054345060.1XP_054201035.1  adenylate cyclase type 5 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNW3
    10. XM_054345068.1XP_054201043.1  adenylate cyclase type 5 isoform X10

      UniProtKB/TrEMBL
      A0A8V8TNW3
    11. XM_054345065.1XP_054201040.1  adenylate cyclase type 5 isoform X7

      UniProtKB/TrEMBL
      A0A8V8TNW3, B3KWA8
    12. XM_054345071.1XP_054201046.1  adenylate cyclase type 5 isoform X11

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8
    13. XM_054345063.1XP_054201038.1  adenylate cyclase type 5 isoform X5

      UniProtKB/TrEMBL
      A0A8V8TNW3
    14. XM_054345066.1XP_054201041.1  adenylate cyclase type 5 isoform X8

      UniProtKB/TrEMBL
      A0A8V8TNW3
    15. XM_054345073.1XP_054201048.1  adenylate cyclase type 5 isoform X12

      UniProtKB/TrEMBL
      C9JQ38, C9JRT8