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    FAM118A family with sequence similarity 118 member A [ Homo sapiens (human) ]

    Gene ID: 55007, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM118Aprovided by HGNC
    Official Full Name
    family with sequence similarity 118 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:1313
    See related
    Ensembl:ENSG00000100376 AllianceGenome:HGNC:1313
    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
    C22orf8
    Summary
    Enables identical protein binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in prostate (RPKM 10.4), lymph node (RPKM 9.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM118A in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45308960..45341955)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45794190..45826857)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45704841..45737836)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S10 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45686240-45686773 Neighboring gene uroplakin 3A Neighboring gene Sharpr-MPRA regulatory region 10691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45706877-45707685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19227 Neighboring gene structural maintenance of chromosomes 1B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45809563-45810395 Neighboring gene RIB43A domain with coiled-coils 2

    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 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. Tissue effect on genetic control of transcript isoform variation. Kwan T, et al. PLoS Genet, 2009 Aug. PMID 19680542, Free PMC Article
    2. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. Yeung ML, et al. J Biol Chem, 2009 Jul 17. PMID 19460752, Free PMC Article
    3. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    4. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
    5. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Tissue effect on genetic control of transcript isoform variation.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of family with sequence similarity 118, member A (FAM118A; C22orf8) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20635

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM118A
    Names
    bK268H5.C22.4

    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_001104595.2 → NP_001098065.1  protein FAM118A isoform 1

      See identical proteins and their annotated locations for NP_001098065.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 - 3 encode the same protein (isoform 1).
      Source sequence(s)
      AL008718
      Consensus CDS
      CCDS14065.1
      UniProtKB/Swiss-Prot
      B3KWG4, B4DY02, Q5TII5, Q96CY3, Q9NWS6
      Related
      ENSP00000216214.3, ENST00000216214.7
      Conserved Domains (1) summary
      pfam13289
      Location:143 → 247
      SIR2_2; SIR2-like domain

    2. NM_001349913.2 → NP_001336842.1  protein FAM118A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes isoform 1. Variants 1 - 3 encode the same protein (isoform 1).
      Source sequence(s)
      AL008718
      Consensus CDS
      CCDS14065.1
      UniProtKB/Swiss-Prot
      B3KWG4, B4DY02, Q5TII5, Q96CY3, Q9NWS6
      Conserved Domains (1) summary
      pfam13289
      Location:143 → 247
      SIR2_2; SIR2-like domain

    3. NM_001349914.2 → NP_001336843.1  protein FAM118A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes isoform 2.
      Source sequence(s)
      AL008718
      Conserved Domains (1) summary
      pfam13289
      Location:144 → 248
      SIR2_2; SIR2-like domain

    4. NM_001349915.2 → NP_001336844.1  protein FAM118A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) encodes isoform 3.
      Source sequence(s)
      AL008718
      Conserved Domains (1) summary
      cl00195
      Location:113 → 173
      SIR2; SIR2 superfamily of proteins includes silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation, where the acetyl group from the lysine epsilon-amino group is transferred to the ADP-ribose moiety of NAD+, ...

    5. NM_001349916.2 → NP_001336845.1  protein FAM118A isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) encodes isoform 4.
      Source sequence(s)
      AL008718
      Conserved Domains (1) summary
      pfam13289
      Location:157 → 261
      SIR2_2; SIR2-like domain

    6. NM_017911.4 → NP_060381.2  protein FAM118A isoform 1

      See identical proteins and their annotated locations for NP_060381.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes isoform 1. Variants 1 - 3 encode the same protein (isoform 1).
      Source sequence(s)
      AL008718
      Consensus CDS
      CCDS14065.1
      UniProtKB/Swiss-Prot
      B3KWG4, B4DY02, Q5TII5, Q96CY3, Q9NWS6
      Related
      ENSP00000395892.2, ENST00000441876.7
      Conserved Domains (1) summary
      pfam13289
      Location:143 → 247
      SIR2_2; SIR2-like domain

    RNA

    1. NR_146323.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL008718

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      45308960..45341955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441433.1 → XP_047297389.1  protein FAM118A isoform X9

    2. XM_047441435.1 → XP_047297391.1  protein FAM118A isoform X13

    3. XM_017028857.2 → XP_016884346.1  protein FAM118A isoform X12

      Related
      ENSP00000385231.1, ENST00000405673.5

    4. XM_047441436.1 → XP_047297392.1  protein FAM118A isoform X14

    5. XM_047441434.1 → XP_047297390.1  protein FAM118A isoform X11

    6. XM_047441431.1 → XP_047297387.1  protein FAM118A isoform X7

    7. XM_047441432.1 → XP_047297388.1  protein FAM118A isoform X8

    8. XM_017028856.3 → XP_016884345.1  protein FAM118A isoform X10

    9. XM_017028842.1 → XP_016884331.1  protein FAM118A isoform X1

    10. XM_017028844.1 → XP_016884333.1  protein FAM118A isoform X3

    11. XM_017028843.1 → XP_016884332.1  protein FAM118A isoform X2

    12. XM_024452255.2 → XP_024308023.1  protein FAM118A isoform X6

    13. XM_011530256.2 → XP_011528558.1  protein FAM118A isoform X4

    14. XM_024452254.2 → XP_024308022.1  protein FAM118A isoform X5

    15. XM_047441437.1 → XP_047297393.1  protein FAM118A isoform X15

    RNA

    1. XR_007067975.1 RNA Sequence

    2. XR_007067976.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      45794190..45826857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325758.1 → XP_054181733.1  protein FAM118A isoform X23

    2. XM_054325768.1 → XP_054181743.1  protein FAM118A isoform X9

    3. XM_054325759.1 → XP_054181734.1  protein FAM118A isoform X23

    4. XM_054325763.1 → XP_054181738.1  protein FAM118A isoform X24

    5. XM_054325760.1 → XP_054181735.1  protein FAM118A isoform X23

    6. XM_054325762.1 → XP_054181737.1  protein FAM118A isoform X24

    7. XM_054325757.1 → XP_054181732.1  protein FAM118A isoform X22

    8. XM_054325751.1 → XP_054181726.1  protein FAM118A isoform X16

    9. XM_054325753.1 → XP_054181728.1  protein FAM118A isoform X18

    10. XM_054325755.1 → XP_054181730.1  protein FAM118A isoform X20

    11. XM_054325764.1 → XP_054181739.1  protein FAM118A isoform X25

    12. XM_054325752.1 → XP_054181727.1  protein FAM118A isoform X17

    13. XM_054325754.1 → XP_054181729.1  protein FAM118A isoform X19

    14. XM_054325756.1 → XP_054181731.1  protein FAM118A isoform X21

    15. XM_054325765.1 → XP_054181740.1  protein FAM118A isoform X26

    16. XM_054325761.1 → XP_054181736.1  protein FAM118A isoform X23

    17. XM_054325766.1 → XP_054181741.1  protein FAM118A isoform X27

    18. XM_054325769.1 → XP_054181744.1  protein FAM118A isoform X10

    19. XM_054325767.1 → XP_054181742.1  protein FAM118A isoform X28

    RNA

    1. XR_008485401.1 RNA Sequence

    2. XR_008485402.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWS6.2 GenPept UniProtKB/Swiss-Prot:Q9NWS6

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