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    AAMDC adipogenesis associated Mth938 domain containing [ Homo sapiens (human) ]

    Gene ID: 28971, updated on 5-Mar-2024

    Summary

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    Official Symbol
    AAMDCprovided by HGNC
    Official Full Name
    adipogenesis associated Mth938 domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:30205
    See related
    Ensembl:ENSG00000087884 MIM:620474; AllianceGenome:HGNC:30205
    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
    CK067; PTD015; C11orf67
    Summary
    Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 14.7), fat (RPKM 11.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q14.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77821144..77906024)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77754365..77839260)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77532190..77617070)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene remodeling and spacing factor 1 Neighboring gene UPF0764 protein C16orf89-like Neighboring gene MPRA-validated peak1365 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77530149-77531122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77531123-77532095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3803 Neighboring gene ribosomal protein S20 pseudogene 27 Neighboring gene ribosomal protein L21 pseudogene 95 Neighboring gene integrator complex subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77643873-77644620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77644621-77645367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3804 Neighboring gene MPRA-validated peak1367 silencer Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77727696-77728196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733111-77733678 Neighboring gene uncharacterized LOC124902723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733679-77734248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77734249-77734816 Neighboring gene Sharpr-MPRA regulatory region 11011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77741282-77741794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3805 Neighboring gene Sharpr-MPRA regulatory region 10650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77750634-77751590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3807 Neighboring gene potassium channel tetramerization domain containing 14 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive

    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. The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer. Golden E, et al. Nat Commun, 2021 Mar 26. PMID 33772001, Free PMC Article
    2. Adipogenesis associated Mth938 domain containing (AAMDC) protein expression is regulated by alternative polyadenylation and microRNAs. Xiao R, et al. FEBS Lett, 2019 Jul. PMID 31116411
    3. LOC66273 isoform 2, a novel protein highly expressed in white adipose tissue, induces adipogenesis in 3T3-L1 cells. Ma X, et al. J Nutr, 2012 Mar. PMID 22279136
    4. Proteomic analysis of the epidermal growth factor receptor (EGFR) interactome and post-translational modifications associated with receptor endocytosis in response to EGF and stress. Tong J, et al. Mol Cell Proteomics, 2014 Jul. PMID 24797263, Free PMC Article
    5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer.
      Title: The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer.
    2. AAMDC is post-transcriptionally regulated through APA and microRNAs
      Title: Adipogenesis associated Mth938 domain containing (AAMDC) protein expression is regulated by alternative polyadenylation and microRNAs.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • MGC3367, FLJ21035

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of 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
    		  

    General protein information

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    Preferred Names
    mth938 domain-containing protein
    Names
    UPF0366 protein C11orf67
    adipogenesis associated Mth938 domain-containing protein

    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_001316957.3 → NP_001303886.1  mth938 domain-containing protein isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS81605.1
      UniProtKB/TrEMBL
      K4DI89
      Related
      ENSP00000307254.8, ENST00000304716.12
      Conserved Domains (1) summary
      cd05126
      Location:5 → 93
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    2. NM_001316958.3 → NP_001303887.1  mth938 domain-containing protein isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2 and 12 both encode the same isoform (b).
      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS81604.1
      UniProtKB/TrEMBL
      E9PLK9
      Related
      ENSP00000433281.1, ENST00000527134.5
      Conserved Domains (1) summary
      cl00182
      Location:5 → 93
      Mth938-like; Mth938-like domain. The members of this family include: Mth938, 2P1, Xcr35, Rpa2829, and several uncharacterized sequences. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a ...

    3. NM_001316960.2 → NP_001303889.1  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
      Source sequence(s)
      BC002752, BI791786, BP270361
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    4. NM_001316961.2 → NP_001303890.1  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
      Source sequence(s)
      AI569731, AP002812, BC002752, BP270361
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    5. NM_001316962.2 → NP_001303891.1  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
      Source sequence(s)
      BM930331, BP270361
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Related
      ENSP00000431808.1, ENST00000526415.5
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    6. NM_001363564.2 → NP_001350493.2  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Source sequence(s)
      AP002812
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Related
      ENSP00000432830.2, ENST00000525034.1
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    7. NM_001392031.1 → NP_001378960.1  mth938 domain-containing protein isoform e

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS91546.1
      UniProtKB/TrEMBL
      E9PR47
      Conserved Domains (1) summary
      cd05126
      Location:5 → 166
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    8. NM_001392032.1 → NP_001378961.1  mth938 domain-containing protein isoform e

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS91546.1
      UniProtKB/TrEMBL
      E9PR47
      Conserved Domains (1) summary
      cd05126
      Location:5 → 166
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    9. NM_001392033.1 → NP_001378962.1  mth938 domain-containing protein isoform e

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS91546.1
      UniProtKB/TrEMBL
      E9PR47
      Conserved Domains (1) summary
      cd05126
      Location:5 → 166
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    10. NM_001392034.1 → NP_001378963.1  mth938 domain-containing protein isoform b

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS81604.1
      UniProtKB/TrEMBL
      E9PLK9
      Conserved Domains (1) summary
      cl00182
      Location:5 → 93
      Mth938-like; Mth938-like domain. The members of this family include: Mth938, 2P1, Xcr35, Rpa2829, and several uncharacterized sequences. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a ...

    11. NM_001392035.1 → NP_001378964.1  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    12. NM_001392036.1 → NP_001378965.1  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    13. NM_001392037.1 → NP_001378966.1  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    14. NM_001392038.1 → NP_001378967.1  mth938 domain-containing protein isoform c

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    15. NM_001392068.1 → NP_001378997.1  mth938 domain-containing protein isoform f

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812
      UniProtKB/TrEMBL
      E9PJP1
      Conserved Domains (1) summary
      cl00182
      Location:5 → 76
      Mth938-like; Mth938-like domain. The members of this family include: Mth938, 2P1, Xcr35, Rpa2829, and several uncharacterized sequences. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a ...

    16. NM_024684.4 → NP_078960.1  mth938 domain-containing protein isoform c

      See identical proteins and their annotated locations for NP_078960.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has an alternate exon in place of the last two exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 3-6 and 13-16 all encode the same isoform (c).
      Source sequence(s)
      BC002752, BP270361
      Consensus CDS
      CCDS8254.1
      UniProtKB/Swiss-Prot
      Q96AQ4, Q9H7C9, Q9Y6B1
      Related
      ENSP00000377078.2, ENST00000393427.7
      Conserved Domains (1) summary
      cd05126
      Location:5 → 120
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    RNA

    1. NR_133637.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate 5' exon and an alternate 3' exon, and contains another alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP000580, AP002812

    2. NR_171640.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812

    3. NR_171642.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812

    4. NR_171643.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000580, AP002812

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      77821144..77906024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426836.1 → XP_047282792.1  mth938 domain-containing protein isoform X1

    2. XM_047426838.1 → XP_047282794.1  mth938 domain-containing protein isoform X3

      UniProtKB/TrEMBL
      E9PNP3

    3. XM_047426839.1 → XP_047282795.1  mth938 domain-containing protein isoform X3

      UniProtKB/TrEMBL
      E9PNP3

    4. XM_047426837.1 → XP_047282793.1  mth938 domain-containing protein isoform X2

      UniProtKB/TrEMBL
      E9PR47
      Related
      ENSP00000436086.1, ENST00000533193.5

    5. XM_017017620.2 → XP_016873109.1  mth938 domain-containing protein isoform X4

      Conserved Domains (1) summary
      cd05126
      Location:24 → 112
      Mth938; Mth938 domain. Mth938 is a hypothetical protein encoded by the Methanobacterium thermoautotrophicum (Mth) genome. This protein crystallizes as a dimer, although it is monomeric in solution, with one disulfide bond in each monomer. The function of the ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      77754365..77839260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368561.1 → XP_054224536.1  mth938 domain-containing protein isoform X1

    2. XM_054368563.1 → XP_054224538.1  mth938 domain-containing protein isoform X3

      UniProtKB/TrEMBL
      E9PNP3

    3. XM_054368564.1 → XP_054224539.1  mth938 domain-containing protein isoform X3

      UniProtKB/TrEMBL
      E9PNP3

    4. XM_054368562.1 → XP_054224537.1  mth938 domain-containing protein isoform X2

      UniProtKB/TrEMBL
      E9PR47

    5. XM_054368565.1 → XP_054224540.1  mth938 domain-containing protein isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7C9.1 GenPept UniProtKB/Swiss-Prot:Q9H7C9

    Gene LinkOut

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

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