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    FAM120B family with sequence similarity 120 member B [ Homo sapiens (human) ]

    Gene ID: 84498, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAM120Bprovided by HGNC
    Official Full Name
    family with sequence similarity 120 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:21109
    See related
    Ensembl:ENSG00000112584 MIM:612266; AllianceGenome:HGNC:21109
    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
    CCPG; SAN1; PGCC1; KIAA1838; dJ894D12.1
    Summary
    Predicted to be involved in fat cell differentiation and peroxisome proliferator activated receptor signaling pathway. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 5.9), thyroid (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q27
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (170290703..170407067)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (171649394..171778062)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (170599791..170716155)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC154449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:170575708-170576284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:170576285-170576861 Neighboring gene uncharacterized LOC285804 Neighboring gene long intergenic non-protein coding RNA 1624 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:170591232-170592431 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:170604755-170605382 Neighboring gene delta like canonical Notch ligand 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91390 Neighboring gene microRNA 4644 Neighboring gene NANOG hESC enhancer GRCh37_chr6:170664768-170665298 Neighboring gene uncharacterized LOC124901474 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:170695897-170697096 Neighboring gene uncharacterized LOC124901475 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:170712439-170713033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170742555-170743054 Neighboring gene Sharpr-MPRA regulatory region 11687 Neighboring gene uncharacterized LOC107986676 Neighboring gene VISTA enhancer hs1310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170749082-170749660 Neighboring gene uncharacterized LOC124901477 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:170752981-170753211

    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. San1 deficiency leads to cardiomyopathy due to excessive R-loop-associated DNA damage and cardiomyocyte hypoplasia. Liu Z, et al. Biochim Biophys Acta Mol Basis Dis, 2021 Nov 1. PMID 34339838, Free PMC Article
    2. The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34. Holden S, et al. Gene, 2003 Oct 30. PMID 14585507
    3. A senataxin-associated exonuclease SAN1 is required for resistance to DNA interstrand cross-links. Andrews AM, et al. Nat Commun, 2018 Jul 3. PMID 29968717, Free PMC Article
    4. Constitutive coactivator of peroxisome proliferator-activated receptor (PPARgamma), a novel coactivator of PPARgamma that promotes adipogenesis. Li D, et al. Mol Endocrinol, 2007 Oct. PMID 17595322
    5. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP, et al. PLoS Genet, 2011 Sep. PMID 21980299, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. San1 deficiency leads to cardiomyopathy due to excessive R-loop-associated DNA damage and cardiomyocyte hypoplasia.
      Title: San1 deficiency leads to cardiomyopathy due to excessive R-loop-associated DNA damage and cardiomyocyte hypoplasia.
    2. Study report a previously uncharacterized protein, SAN1, the Fam120b gene product, as a 5' exonuclease that acts independently of the Fanconi anemia pathway in response to inter-strand DNA cross-links (ICLs). Deletion of SAN1 in HeLa cells and mouse embryonic fibroblasts causes sensitivity to ICLs. SAN1 binds to senataxin (SETX). SAN1-SETX binding is increased by ICLs and is required to prevent cross-link sensitivity.
      Title: A senataxin-associated exonuclease SAN1 is required for resistance to DNA interstrand cross-links.
    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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    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
    A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ55614, KIAA0183

    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 fat cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peroxisome proliferator activated receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    constitutive coactivator of peroxisome proliferator-activated receptor gamma
    Names
    PPARG constitutive coactivator 1
    PPARgamma constitutive coactivator 1
    constitutive coactivator of PPAR-gamma
    family with sequence similarity 120B
    senataxin-associated nuclease 1

    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_001286379.2 → NP_001273308.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AJ420589, AK294415, AK299890, AL008628
      Consensus CDS
      CCDS78200.1
      UniProtKB/TrEMBL
      A0A0D9SEJ5, B4DG54
      Related
      ENSP00000485745.1, ENST00000630384.2
      Conserved Domains (2) summary
      pfam12813
      Location:168 → 241
      XPG_I_2; XPG domain containing
      pfam15548
      Location:318 → 507
      DUF4655; Domain of unknown function (DUF4655)

    2. NM_001286380.2 → NP_001273309.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
      Source sequence(s)
      AJ420589, AK294415, AK299890, AL008628
      Consensus CDS
      CCDS75555.1
      UniProtKB/TrEMBL
      B4DSS4, F5GY05
      Related
      ENSP00000440125.1, ENST00000537664.5
      Conserved Domains (2) summary
      pfam12813
      Location:179 → 252
      XPG_I_2; XPG domain containing
      pfam15548
      Location:329 → 518
      DUF4655; Domain of unknown function (DUF4655)

    3. NM_001286381.2 → NP_001273310.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform d

      See identical proteins and their annotated locations for NP_001273310.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon and lacks two additional exons in the 5' coding region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AJ420589, AK296825, AL008628
      Consensus CDS
      CCDS69243.1
      UniProtKB/Swiss-Prot
      Q96EK7
      Related
      ENSP00000485793.1, ENST00000625626.1

    4. NM_032448.3 → NP_115824.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform c

      See identical proteins and their annotated locations for NP_115824.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AJ420589, AK299890, AL008628, DQ873695
      Consensus CDS
      CCDS5314.1
      UniProtKB/Swiss-Prot
      B4DL34, Q86V68, Q96EK7, Q96JI9
      UniProtKB/TrEMBL
      B4DG54
      Related
      ENSP00000417970.1, ENST00000476287.4
      Conserved Domains (2) summary
      pfam12813
      Location:156 → 229
      XPG_I_2; XPG domain containing
      pfam15548
      Location:306 → 495
      DUF4655; Domain of unknown function (DUF4655)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      170290703..170407067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446569.2 → XP_024302337.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X1

      UniProtKB/TrEMBL
      B4DG54
      Conserved Domains (1) summary
      pfam15548
      Location:306 → 495
      DUF4655; Domain of unknown function (DUF4655)

    2. XM_047419415.1 → XP_047275371.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X8

    3. XM_011536185.4 → XP_011534487.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X7

      See identical proteins and their annotated locations for XP_011534487.1

      Conserved Domains (2) summary
      pfam12813
      Location:156 → 229
      XPG_I_2; XPG domain containing
      pfam15548
      Location:318 → 495
      DUF4655; Domain of unknown function (DUF4655)

    4. XM_017011359.3 → XP_016866848.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X5

    5. XM_017011360.3 → XP_016866849.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X6

    6. XM_047419414.1 → XP_047275370.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X3

    7. XM_024446570.2 → XP_024302338.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X2

      UniProtKB/TrEMBL
      B4DG54
      Conserved Domains (1) summary
      pfam15548
      Location:306 → 495
      DUF4655; Domain of unknown function (DUF4655)

    8. XM_017011358.3 → XP_016866847.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X4

    RNA

    1. XR_002956306.2 RNA Sequence

    2. XR_007059342.1 RNA Sequence

    3. XR_007059343.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187553.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      17941..143628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328685.1 → XP_054184660.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X1

    2. XM_054328689.1 → XP_054184664.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X8

    3. XM_054328688.1 → XP_054184663.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X7

    4. XM_054328686.1 → XP_054184661.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X2

    5. XM_054328687.1 → XP_054184662.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X4

    RNA

    1. XR_008485607.1 RNA Sequence

    2. XR_008485604.1 RNA Sequence

    3. XR_008485609.1 RNA Sequence

    4. XR_008485610.1 RNA Sequence

    5. XR_008485606.1 RNA Sequence

    6. XR_008485605.1 RNA Sequence

    7. XR_008485608.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      171649394..171778062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356552.1 → XP_054212527.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X1

    2. XM_054356559.1 → XP_054212534.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X8

    3. XM_054356558.1 → XP_054212533.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X7

    4. XM_054356556.1 → XP_054212531.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X5

    5. XM_054356557.1 → XP_054212532.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X6

    6. XM_054356554.1 → XP_054212529.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X3

    7. XM_054356553.1 → XP_054212528.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X2

    8. XM_054356555.1 → XP_054212530.1  constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform X4

    RNA

    1. XR_008487444.1 RNA Sequence

    2. XR_008487445.1 RNA Sequence

    3. XR_008487446.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EK7.1 GenPept UniProtKB/Swiss-Prot:Q96EK7

    Gene LinkOut

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

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