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

Gene ID: 286336, updated on 3-Apr-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
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Genomic context

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Location:
9q34.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131258078..131281045, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143466357..143489327, complement)
105.20220307 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. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
  3. 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
  4. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (10) 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)

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

  • 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_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
    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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