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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
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Genomic context

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See FAM120A in Genome Data Viewer
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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