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    ADISSP adipose secreted signaling protein [ Homo sapiens (human) ]

    Gene ID: 54976, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ADISSPprovided by HGNC
    Official Full Name
    adipose secreted signaling proteinprovided by HGNC
    Primary source
    HGNC:HGNC:15873
    See related
    Ensembl:ENSG00000101220 MIM:620373; AllianceGenome:HGNC:15873
    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
    C20orf27
    Summary
    Enables protein phosphatase 1 binding activity. Involved in positive regulation of NIK/NF-kappaB signaling and positive regulation of transforming growth factor beta receptor signaling pathway. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 20.0), fat (RPKM 18.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3753508..3768388, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3784462..3799327, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3734155..3749035, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene sialic acid binding Ig like lectin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3678505-3679004 Neighboring gene Sharpr-MPRA regulatory region 3812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12624 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3713394-3713973 Neighboring gene heat shock protein family A (Hsp70) member 12B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3722898-3723425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3725082-3725992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3729440-3729992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3729993-3730543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3747545-3748309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3748437-3749023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3759113-3759730 Neighboring gene Sharpr-MPRA regulatory region 2213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3766083-3766793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3766794-3767503 Neighboring gene sperm flagellar 1 Neighboring gene centromere protein B

    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. C20orf27 Promotes Cell Growth and Proliferation of Colorectal Cancer via the TGFβR-TAK1-NFĸB Pathway. Gao J, et al. Cancers (Basel), 2020 Feb 2. PMID 32024300, Free PMC Article
    2. A brown fat-enriched adipokine Adissp controls adipose thermogenesis and glucose homeostasis. Chen Q, et al. Nat Commun, 2022 Dec 10. PMID 36496438, Free PMC Article
    3. The SARS-coronavirus-host interactome: identification of cyclophilins as target for pan-coronavirus inhibitors. Pfefferle S, et al. PLoS Pathog, 2011 Oct. PMID 22046132, Free PMC Article
    4. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. Giannone RJ, et al. PLoS One, 2010 Aug 25. PMID 20811636, Free PMC Article
    5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Gevaert K, et al. Nat Biotechnol, 2003 May. PMID 12665801

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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)

    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

    • FLJ20550

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein phosphatase 1 binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein kinase A signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    adipose-secreted signaling protein
    Names
    UPF0687 protein C20orf27

    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_001039140.3 → NP_001034229.1  adipose-secreted signaling protein isoform 1

      See identical proteins and their annotated locations for NP_001034229.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK024220, BF978883, BG474804, DB317576
      Consensus CDS
      CCDS33436.1
      UniProtKB/Swiss-Prot
      Q9GZN8
      Related
      ENSP00000217195.8, ENST00000217195.12
      Conserved Domains (1) summary
      pfam15006
      Location:53 → 198
      DUF4517; Domain of unknown function (DUF4517)

    2. NM_001258429.2 → NP_001245358.1  adipose-secreted signaling protein isoform 2

      See identical proteins and their annotated locations for NP_001245358.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.
      Source sequence(s)
      AK024220, BF978883, DB317576
      Consensus CDS
      CCDS58763.1
      UniProtKB/Swiss-Prot
      A8K4J0, D3DVX8, Q5JX81, Q9GZN8, Q9NWX3
      Related
      ENSP00000369097.4, ENST00000379772.4
      Conserved Domains (1) summary
      pfam15006
      Location:28 → 173
      DUF4517; Domain of unknown function (DUF4517)

    3. NM_001258430.2 → NP_001245359.1  adipose-secreted signaling protein isoform 2

      See identical proteins and their annotated locations for NP_001245359.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. Variants 2 and 3 encoded the same isoform (2), which is shorter than isoform 1.
      Source sequence(s)
      AK024220, BC069204, DB317576
      Consensus CDS
      CCDS58763.1
      UniProtKB/Swiss-Prot
      A8K4J0, D3DVX8, Q5JX81, Q9GZN8, Q9NWX3
      Related
      ENSP00000382580.1, ENST00000399672.5
      Conserved Domains (1) summary
      pfam15006
      Location:28 → 173
      DUF4517; Domain of unknown function (DUF4517)

    RNA

    1. NR_047675.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5'-most exon and an alternate splice site, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK290955, AL109804, DB317576

    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

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      3753508..3768388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440245.1 → XP_047296201.1  adipose-secreted signaling protein isoform X2

      Related
      ENSP00000382591.3, ENST00000399683.7

    2. XM_011529266.4 → XP_011527568.1  adipose-secreted signaling protein isoform X1

      Conserved Domains (1) summary
      pfam15006
      Location:53 → 157
      DUF4517; Domain of unknown function (DUF4517)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      3784462..3799327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323584.1 → XP_054179559.1  adipose-secreted signaling protein isoform X2

    2. XM_054323583.1 → XP_054179558.1  adipose-secreted signaling protein isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017874.2: Suppressed sequence

      Description
      NM_017874.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZN8.3 GenPept UniProtKB/Swiss-Prot:Q9GZN8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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