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

Gene ID: 55007, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in prostate (RPKM 10.4), lymph node (RPKM 9.2) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
22q13.31
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45308960..45341955)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45794190..45826857)
105.20220307 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
  • 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_2023_10

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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