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    FAM78A family with sequence similarity 78 member A [ Homo sapiens (human) ]

    Gene ID: 286336, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM78Aprovided by HGNC
    Official Full Name
    family with sequence similarity 78 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:25465
    See related
    Ensembl:ENSG00000126882 AllianceGenome:HGNC:25465
    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
    C9orf59
    Expression
    Broad expression in lymph node (RPKM 10.3), spleen (RPKM 9.5) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM78A in Genome Data Viewer
    Location:
    9q34.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131258078..131281045, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143466357..143489327, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134133465..134153422, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133972255-133972754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133976923-133977473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133977739-133978658 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:133983561-133984060 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:133985267-133985946 Neighboring gene allograft inflammatory factor 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29170 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134007050-134007224 Neighboring gene RNA, U6 small nuclear 881, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr9:134019614-134020115 Neighboring gene nucleoporin 214 Neighboring gene Sharpr-MPRA regulatory region 7681 Neighboring gene enhancer-blocking element 9-3 overlapping NUP214 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:134079595-134080149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134102195-134103194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134103195-134104193 Neighboring gene VISTA enhancer hs1963 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134128001-134128317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134129269-134129770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29175 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134144226-134144388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134150612-134151224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134157582-134158440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134158441-134159298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134163383-134164298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29185 Neighboring gene Sharpr-MPRA regulatory region 12946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134176375-134176876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134176877-134177376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20412 Neighboring gene phospholipid phosphatase 7 (inactive) Neighboring gene ReSE screen-validated silencer GRCh37_chr9:134197285-134197821 Neighboring gene uncharacterized LOC105376299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134205514-134206468 Neighboring gene uncharacterized LOC105376300

    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. Characterization of long cDNA clones from human adult spleen. Hattori A, et al. DNA Res, 2000 Dec 31. PMID 11214971
    2. The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4. Chen W, et al. Breast Cancer Res Treat, 2023 Oct. PMID 37433992, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    5. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00024

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM78A

    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_001399459.1 → NP_001386388.1  protein FAM78A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL157938
      Consensus CDS
      CCDS6941.2
      UniProtKB/Swiss-Prot
      Q5JUQ0, Q86VQ9, Q9H7P4
      Related
      ENSP00000516028.1, ENST00000704762.1

    2. NM_001400581.1 → NP_001387510.1  protein FAM78A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL157938
      Consensus CDS
      CCDS6941.2
      UniProtKB/Swiss-Prot
      Q5JUQ0, Q86VQ9, Q9H7P4

    3. NM_001400582.1 → NP_001387511.1  protein FAM78A isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL157938

    4. NM_001400583.1 → NP_001387512.1  protein FAM78A isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL157938
      Consensus CDS
      CCDS94514.1
      UniProtKB/TrEMBL
      Q5JUQ2
      Related
      ENSP00000361343.3, ENST00000372269.7

    5. NM_001400584.1 → NP_001387513.1  protein FAM78A isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL157938

    6. NM_001400585.1 → NP_001387514.1  protein FAM78A isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AL157938

    7. NM_001400586.1 → NP_001387515.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    8. NM_001400587.1 → NP_001387516.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    9. NM_001400588.1 → NP_001387517.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    10. NM_001400589.1 → NP_001387518.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    11. NM_001400590.1 → NP_001387519.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    12. NM_001400591.1 → NP_001387520.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    13. NM_001400592.1 → NP_001387521.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    14. NM_001400593.1 → NP_001387522.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    15. NM_001400594.1 → NP_001387523.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    16. NM_001400595.1 → NP_001387524.1  protein FAM78A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL157938

    17. NM_033387.4 → NP_203745.2  protein FAM78A isoform 1

      See identical proteins and their annotated locations for NP_203745.2

      Status: VALIDATED

      Source sequence(s)
      BC029924, BC049388
      Consensus CDS
      CCDS6941.2
      UniProtKB/Swiss-Prot
      Q5JUQ0, Q86VQ9, Q9H7P4
      Related
      ENSP00000361345.3, ENST00000372271.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      131258078..131281045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518568.4 → XP_011516870.2  protein FAM78A isoform X1

    2. XM_047423250.1 → XP_047279206.1  protein FAM78A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      143466357..143489327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362778.1 → XP_054218753.1  protein FAM78A isoform X1

    2. XM_054362777.1 → XP_054218752.1  protein FAM78A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JUQ0.1 GenPept UniProtKB/Swiss-Prot:Q5JUQ0

    Gene LinkOut

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

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