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    FAM193A family with sequence similarity 193 member A [ Homo sapiens (human) ]

    Gene ID: 8603, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM193Aprovided by HGNC
    Official Full Name
    family with sequence similarity 193 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:16822
    See related
    Ensembl:ENSG00000125386 MIM:620037; AllianceGenome:HGNC:16822
    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
    C4orf8; RES4-22
    Expression
    Ubiquitous expression in testis (RPKM 11.8), ovary (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM193A in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2535375..2732573)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2534120..2731332)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2537102..2734300)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374353 Neighboring gene uncharacterized LOC107986250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2470739-2471311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2478879-2479379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2480295-2480819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21176 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2487795-2488296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2491261-2492041 Neighboring gene ring finger protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15176 Neighboring gene Sharpr-MPRA regulatory region 6001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2556971-2557807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2557808-2558643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2561739-2562277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2597477-2598429 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2598430-2599381 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2599382-2600334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2620021-2620522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2625441-2626235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2632219-2632720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2632721-2633220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2648543-2649043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2660247-2660748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2660749-2661248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2672935-2673479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2746569-2747069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2763311-2764135 Neighboring gene uncharacterized LOC102723763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2764939-2765507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21183 Neighboring gene TNFAIP3 interacting protein 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. FAM193A is a positive regulator of p53 activity. Szwarc MM, et al. Cell Rep, 2023 Mar 28. PMID 36897777, Free PMC Article
    2. Neurological disease-associated autoantibodies against an unknown protein encoded by a RES4-22 homologous gene. Amin M, et al. Scand J Immunol, 2001 Feb. PMID 11169226
    3. Transcript map of the human chromosome 4p16.3 consisting of 627 cDNA clones derived from 1 Mb of the Huntington's disease locus. Hadano S, et al. DNA Res, 1996 Aug 31. PMID 8946164
    4. The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3. Hadano S, et al. DNA Res, 1998 Jun 30. PMID 9734812
    5. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM193A is a positive regulator of p53 activity.
      Title: FAM193A is a positive regulator of p53 activity.
    2. 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.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    protein FAM193A

    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_001256666.2 → NP_001243595.1  protein FAM193A isoform 2

      See identical proteins and their annotated locations for NP_001243595.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, also known as RES4-22B) includes an alternate exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AA905011, AB000460, BC136646
      Consensus CDS
      CCDS58875.1
      UniProtKB/Swiss-Prot
      B7ZM85, B9EGR0, E9PFA1, O43607, P78311, P78312, P78313, Q9UEG8
      Related
      ENSP00000324587.5, ENST00000324666.9
      Conserved Domains (1) summary
      pfam15914
      Location:1209 → 1262
      FAM193_C; FAM193 family C-terminal

    2. NM_001256667.2 → NP_001243596.1  protein FAM193A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an alternate exon in the and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AA905011, AB000459, BC144340
      Consensus CDS
      CCDS58874.1
      UniProtKB/TrEMBL
      E7EUR8
      Related
      ENSP00000427505.1, ENST00000502458.5
      Conserved Domains (1) summary
      pfam15914
      Location:1190 → 1243
      FAM193_C; FAM193 family C-terminal

    3. NM_001256668.2 → NP_001243597.1  protein FAM193A isoform 4

      See identical proteins and their annotated locations for NP_001243597.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA905011, AB000459, BC144339, BM788933
      Consensus CDS
      CCDS58876.1
      UniProtKB/TrEMBL
      E7EUR8
      Related
      ENSP00000421200.1, ENST00000505311.5
      Conserved Domains (2) summary
      PRK12323
      Location:661 → 738
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam15914
      Location:1168 → 1194
      FAM193_C; FAM193 family C-terminal

    4. NM_001366316.2 → NP_001353245.1  protein FAM193A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL110117, BX322586, CR545473
      Conserved Domains (2) summary
      pfam15914
      Location:1402 → 1455
      FAM193_C; FAM193 family C-terminal
      cl26386
      Location:895 → 972
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    5. NM_001366318.2 → NP_001353247.1  protein FAM193A isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) encodes the longest protein (isoform 6). This variant is inferred based on short read sequence data and conservation.
      Source sequence(s)
      AL110117, BX322586, CR545473
      Consensus CDS
      CCDS93467.1
      UniProtKB/TrEMBL
      A0A1B0GVL4
      Related
      ENSP00000490564.1, ENST00000637812.2
      Conserved Domains (2) summary
      pfam15914
      Location:1459 → 1512
      FAM193_C; FAM193 family C-terminal
      cl26386
      Location:952 → 1029
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    6. NM_003704.4 → NP_003695.3  protein FAM193A isoform 1

      See identical proteins and their annotated locations for NP_003695.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, also known as RES4-22A) encodes isoform 1.
      Source sequence(s)
      AA905011, AB000459, AF040966, BM468825, D44687
      Consensus CDS
      CCDS33943.1
      UniProtKB/TrEMBL
      E7EUR8
      Related
      ENSP00000372290.3, ENST00000382839.7
      Conserved Domains (1) summary
      pfam15914
      Location:1168 → 1221
      FAM193_C; FAM193 family C-terminal

    RNA

    1. NR_046335.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3, also known as RES4-22C) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA905011, AB000461, AF040966
      Related
      ENST00000512465.5

    2. NR_046336.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate exon and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA905011, AB000459, AB000461, BC144337, BF924432, BM788933
      Related
      ENST00000513898.5

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      2535375..2732573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416341.1 → XP_047272297.1  protein FAM193A isoform X3

    2. XM_011513590.3 → XP_011511892.2  protein FAM193A isoform X1

      Conserved Domains (2) summary
      pfam15914
      Location:1509 → 1562
      FAM193_C; FAM193 family C-terminal
      cl26386
      Location:1002 → 1079
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    3. XM_006713932.4 → XP_006713995.3  protein FAM193A isoform X2

      Conserved Domains (2) summary
      pfam15914
      Location:1483 → 1536
      FAM193_C; FAM193 family C-terminal
      cl26386
      Location:976 → 1053
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    4. XM_047416342.1 → XP_047272298.1  protein FAM193A isoform X4

    5. XM_047416344.1 → XP_047272300.1  protein FAM193A isoform X6

    6. XM_047416343.1 → XP_047272299.1  protein FAM193A isoform X5

      UniProtKB/TrEMBL
      E7EUR8
      Related
      ENSP00000427260.1, ENST00000513350.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      2534120..2731332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351141.1 → XP_054207116.1  protein FAM193A isoform X3

    2. XM_054351139.1 → XP_054207114.1  protein FAM193A isoform X1

    3. XM_054351140.1 → XP_054207115.1  protein FAM193A isoform X2

    4. XM_054351142.1 → XP_054207117.1  protein FAM193A isoform X4

    5. XM_054351144.1 → XP_054207119.1  protein FAM193A isoform X6

    6. XM_054351143.1 → XP_054207118.1  protein FAM193A isoform X5

      UniProtKB/TrEMBL
      E7EUR8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78312.2 GenPept UniProtKB/Swiss-Prot:P78312

    Gene LinkOut

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

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