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    FAM120A family with sequence similarity 120 member A [ Homo sapiens (human) ]

    Gene ID: 23196, updated on 16-Apr-2024

    Summary

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    Official Symbol
    FAM120Aprovided by HGNC
    Official Full Name
    family with sequence similarity 120 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:13247
    See related
    Ensembl:ENSG00000048828 MIM:612265; AllianceGenome:HGNC:13247
    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
    OSSA; C9orf10; HBVPTPAP
    Summary
    Enables RNA binding activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in colon (RPKM 25.6), appendix (RPKM 19.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q22.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (93451685..93566112)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (105619097..105733519)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (96213967..96328394)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 829, pseudogene Neighboring gene uncharacterized LOC107987097 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:96213447-96213996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28621 Neighboring gene Sharpr-MPRA regulatory region 4009 Neighboring gene family with sequence similarity 120 member A opposite strand Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96222857-96223356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:96228924-96229490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28623 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:96244807-96245307 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr9:96271147-96271342 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:96273606-96273793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96337173-96337768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96337769-96338363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96350491-96350991 Neighboring gene Sharpr-MPRA regulatory region 10393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96360469-96361050 Neighboring gene PHD finger protein 2 Neighboring gene microRNA 548au Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96397750-96398479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96405763-96406603 Neighboring gene keratin-associated protein 5-5-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:96431943-96432456

    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. A novel RNA-binding protein, Ossa/C9orf10, regulates activity of Src kinases to protect cells from oxidative stress-induced apoptosis. Tanaka M, et al. Mol Cell Biol, 2009 Jan. PMID 19015244, Free PMC Article
    2. Widespread structural brain involvement in ALS is not limited to the C9orf72 repeat expansion. Westeneng HJ, et al. J Neurol Neurosurg Psychiatry, 2016 Dec. PMID 27756805, Free PMC Article
    3. A genome-wide association study of body mass index across early life and childhood. Warrington NM, et al. Int J Epidemiol, 2015 Apr. PMID 25953783, Free PMC Article
    4. IL13 Receptor α2 Signaling Requires a Scaffold Protein, FAM120A, to Activate the FAK and PI3K Pathways in Colon Cancer Metastasis. Bartolomé RA, et al. Cancer Res, 2015 Jun 15. PMID 25896327
    5. circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis. Zhou T, et al. FASEB J, 2021 Sep. PMID 34449947

    See all (146) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C9orf10/Ossa regulates the bone metastasis of established lung adenocarcinoma cell subline H322L-BO4 in a mouse model.
      Title: C9orf10/Ossa regulates the bone metastasis of established lung adenocarcinoma cell subline H322L-BO4 in a mouse model.
    2. FAM120A deficiency improves resistance to cisplatin in gastric cancer by promoting ferroptosis.
      Title: FAM120A deficiency improves resistance to cisplatin in gastric cancer by promoting ferroptosis.
    3. FAM120A couples SREBP-dependent transcription and splicing of lipogenesis enzymes downstream of mTORC1.
      Title: FAM120A couples SREBP-dependent transcription and splicing of lipogenesis enzymes downstream of mTORC1.
    4. circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis.
      Title: circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis.
    5. his study shows that widespread structural brain involvement is not limited to C9+ patients, but also presents in a subgroup of C9- patients with ALS and relates to cognitive deficits. Our neuroimaging findings reveal an intermediate phenotype that may provide insight into the complex relationship between genetic factors and clinical characteristics.
      Title: Widespread structural brain involvement in ALS is not limited to the C9orf72 repeat expansion.
    6. Results identify novel SNP in FAM120A on chromosome 9 associated with differences in BMI in childhood which may predispose obesity.
      Title: A genome-wide association study of body mass index across early life and childhood.
    7. Results identified FAM120A in the IL13/IL13Ralpha2 signaling pathway as a key mediator of invasion and liver metastasis in colon cancer.
      Title: IL13 Receptor α2 Signaling Requires a Scaffold Protein, FAM120A, to Activate the FAK and PI3K Pathways in Colon Cancer Metastasis.
    8. 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.
    9. study reports that C9orf10 (designated Ossa for oxidative stress-associated Src activator) is a novel RNA-binding protein that guards cancer cells from oxidative stress-induced apoptosis by activation of Src family kinases
      Title: A novel RNA-binding protein, Ossa/C9orf10, regulates activity of Src kinases to protect cells from oxidative stress-induced apoptosis.
    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

    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

    • MGC111527, MGC133257

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    constitutive coactivator of PPAR-gamma-like protein 1
    Names
    family with sequence similarity 120A
    oxidative stess-associated Src activator
    oxidative stress-associated Src activator

    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_001286722.2 → NP_001273651.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform b

      See identical proteins and their annotated locations for NP_001273651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AL353629, AW949787, BC075701, BC111736, BQ020345, BQ421167, D80005
      UniProtKB/Swiss-Prot
      Q9NZB2
      Conserved Domains (1) summary
      cl28905
      Location:5 → 220
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    2. NM_001286723.2 → NP_001273652.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform c

      See identical proteins and their annotated locations for NP_001273652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons but includes an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is significantly shorter than isoform a.
      Source sequence(s)
      AL353629, BC007879, BC075701, BC111736
      UniProtKB/Swiss-Prot
      Q9NZB2
      Conserved Domains (1) summary
      pfam16181
      Location:327 → 407
      RelB_transactiv; RelB transactivation domain

    3. NM_001286724.2 → NP_001273653.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks several 3' exons but includes an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is significantly shorter than isoform a.
      Source sequence(s)
      AF214738, AL353629, BC075701, BC111736, CA310462, R40697
      Consensus CDS
      CCDS75859.1
      UniProtKB/Swiss-Prot
      Q9NZB2
      Related
      ENSP00000364538.3, ENST00000375389.7
      Conserved Domains (2) summary
      pfam16181
      Location:327 → 407
      RelB_transactiv; RelB transactivation domain
      cl27975
      Location:330 → 527
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    4. NM_014612.5 → NP_055427.2  constitutive coactivator of PPAR-gamma-like protein 1 isoform a

      See identical proteins and their annotated locations for NP_055427.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL353629, AW949787, BC075701, BC111736, BQ020345, BQ421167, D80005
      Consensus CDS
      CCDS6706.1
      UniProtKB/Swiss-Prot
      A6NGU0, C4AMC6, O60649, Q14688, Q4VXF4, Q4VXF5, Q4VXG2, Q86V69, Q96I21, Q9NZB1, Q9NZB2
      Related
      ENSP00000277165.5, ENST00000277165.11
      Conserved Domains (1) summary
      cl28905
      Location:5 → 220
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      93451685..93566112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518412.3 → XP_011516714.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516714.1

      UniProtKB/Swiss-Prot
      Q9NZB2
      Conserved Domains (1) summary
      cl28905
      Location:5 → 220
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    2. XM_011518413.3 → XP_011516715.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011516715.1

      Conserved Domains (1) summary
      cl28905
      Location:5 → 220
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    3. XM_047423080.1 → XP_047279036.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X5

    4. XM_005251842.6 → XP_005251899.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X4

      See identical proteins and their annotated locations for XP_005251899.1

      UniProtKB/TrEMBL
      A0A8V8TNY3
      Related
      ENSP00000514050.1, ENST00000698944.1
      Conserved Domains (1) summary
      cl28905
      Location:5 → 220
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    5. XM_047423081.1 → XP_047279037.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X6

    6. XM_011518414.4 → XP_011516716.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011516716.1

      Conserved Domains (1) summary
      cl28905
      Location:5 → 220
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    7. XM_047423082.1 → XP_047279038.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X7

    8. XM_047423083.1 → XP_047279039.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X8

    9. XM_047423084.1 → XP_047279040.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X9

    10. XM_011518416.4 → XP_011516718.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X10

      Conserved Domains (1) summary
      pfam16181
      Location:327 → 407
      RelB_transactiv; RelB transactivation domain

    11. XM_047423085.1 → XP_047279041.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      105619097..105733519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362501.1 → XP_054218476.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X1

    2. XM_054362503.1 → XP_054218478.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X3

    3. XM_054362505.1 → XP_054218480.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X5

    4. XM_054362504.1 → XP_054218479.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A8V8TNY3

    5. XM_054362506.1 → XP_054218481.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X6

    6. XM_054362502.1 → XP_054218477.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X2

    7. XM_054362507.1 → XP_054218482.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X7

    8. XM_054362508.1 → XP_054218483.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X8

    9. XM_054362509.1 → XP_054218484.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X9

    10. XM_054362510.1 → XP_054218485.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X10

    11. XM_054362511.1 → XP_054218486.1  constitutive coactivator of PPAR-gamma-like protein 1 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZB2.2 GenPept UniProtKB/Swiss-Prot:Q9NZB2

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