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    ADIG adipogenin [ Homo sapiens (human) ]

    Gene ID: 149685, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ADIGprovided by HGNC
    Official Full Name
    adipogeninprovided by HGNC
    Primary source
    HGNC:HGNC:28606
    See related
    Ensembl:ENSG00000182035 MIM:611396; AllianceGenome:HGNC:28606
    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
    SMAF1
    Summary
    ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]
    Expression
    Restricted expression toward testis (RPKM 13.2) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38581197..38588463)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (40310849..40318109)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (37209840..37217106)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Ral GTPase activating protein non-catalytic subunit beta Neighboring gene microRNA 548o-2 Neighboring gene ribosomal protein S3 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37189333-37189849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37193517-37194017 Neighboring gene MPRA-validated peak4208 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:37229033-37229574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37236926-37237426 Neighboring gene Rho GTPase activating protein 40 Neighboring gene GINS complex subunit 2 (Psf2 homolog) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12900 Neighboring gene GATA motif-containing MPRA enhancer 112/113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12901 Neighboring gene MPRA-validated peak4211 silencer Neighboring gene VISTA enhancer hs2620 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:37342659-37343160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37354984-37355521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37355736-37356396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37357057-37357716 Neighboring gene solute carrier family 32 member 1

    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. Up-regulation of adipogenin, an adipocyte plasma transmembrane protein, during adipogenesis. Hong YH, et al. Mol Cell Biochem, 2005 Aug. PMID 16132694
    2. Cloning, expression, and differentiation-dependent regulation of SMAF1 in adipogenesis. Kim JY, et al. Biochem Biophys Res Commun, 2005 Jan 7. PMID 15567149
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Studies in mouse indicate the 80 aa SMAF1 protein is involved in adipocyte tissue function or regulation.
      Title: Cloning, expression, and differentiation-dependent regulation of SMAF1 in adipogenesis.
    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

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1219, MGC39724, MGC149650

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brown fat cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in brown fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in white fat cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    adipogenin
    Names
    adipogenesis associated
    small adipocyte factor 1 (SMAF1)

    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_001393816.1 → NP_001380745.1  adipogenin isoform a

      Status: VALIDATED

      Source sequence(s)
      AL035419
      Consensus CDS
      CCDS54461.1
      UniProtKB/Swiss-Prot
      Q0VDE8
      UniProtKB/TrEMBL
      A0A158RFT8
      Related
      ENSP00000440331.2, ENST00000537425.3
      Conserved Domains (1) summary
      pfam15202
      Location:1 → 78
      Adipogenin

    2. NM_001393817.1 → NP_001380746.1  adipogenin isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (b).
      Source sequence(s)
      AL035419
      Consensus CDS
      CCDS93039.1
      UniProtKB/TrEMBL
      H0Y829
      Related
      ENSP00000416834.2, ENST00000416116.2
      Conserved Domains (1) summary
      pfam15202
      Location:1 → 78
      Adipogenin

    RNA

    1. NR_172017.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL035419

    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
      38581197..38588463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      40310849..40318109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_174906.3: Suppressed sequence

      Description
      NM_174906.3: This RefSeq was permanently suppressed because it contains the wrong CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VDE8.1 GenPept UniProtKB/Swiss-Prot:Q0VDE8

    Gene LinkOut

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

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