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

Gene ID: 8603, updated on 3-Apr-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
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Genomic context

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Location:
4p16.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2535375..2732573)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2534120..2731332)
105.20220307 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 (35) 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)

Genotypes

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_2023_10

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

    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

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

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