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

Gene ID: 8603, updated on 4-Jul-2021

Summary

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
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

See FAM193A in Genome Data Viewer
Location:
4p16.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (2535375..2732573)
105.20201022 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 ring finger protein 4 Neighboring gene uncharacterized LOC102723763 Neighboring gene TNFAIP3 interacting protein 2

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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_001256666.2NP_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
    P78312
    Related
    ENSP00000324587.5, ENST00000324666.9
    Conserved Domains (1) summary
    pfam15914
    Location:12091262
    FAM193_C; FAM193 family C-terminal
  2. NM_001256667.2NP_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/Swiss-Prot
    P78312
    Related
    ENSP00000427505.1, ENST00000502458.5
    Conserved Domains (1) summary
    pfam15914
    Location:11901243
    FAM193_C; FAM193 family C-terminal
  3. NM_001256668.2NP_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/Swiss-Prot
    P78312
    Related
    ENSP00000421200.1, ENST00000505311.5
    Conserved Domains (1) summary
    pfam15914
    Location:11681194
    FAM193_C; FAM193 family C-terminal
  4. NM_001366316.2NP_001353245.1  protein FAM193A isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL110117, BX322586, CR545473
    Conserved Domains (2) summary
    pfam15914
    Location:14021455
    FAM193_C; FAM193 family C-terminal
    cl26386
    Location:895972
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  5. NM_001366318.2NP_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
    Related
    ENSP00000490564.1, ENST00000637812.2
    Conserved Domains (2) summary
    pfam15914
    Location:14591512
    FAM193_C; FAM193 family C-terminal
    cl26386
    Location:9521029
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  6. NM_003704.4NP_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/Swiss-Prot
    P78312
    Related
    ENSP00000372290.3, ENST00000382839.7
    Conserved Domains (1) summary
    pfam15914
    Location:11681221
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011513590.2XP_011511892.2  protein FAM193A isoform X1

    Conserved Domains (2) summary
    pfam15914
    Location:15091562
    FAM193_C; FAM193 family C-terminal
    cl26386
    Location:10021079
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  2. XM_006713932.3XP_006713995.3  protein FAM193A isoform X2

    Conserved Domains (2) summary
    pfam15914
    Location:14831536
    FAM193_C; FAM193 family C-terminal
    cl26386
    Location:9761053
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  3. XM_017008788.1XP_016864277.1  protein FAM193A isoform X5

    Conserved Domains (1) summary
    pfam15914
    Location:12181271
    FAM193_C; FAM193 family C-terminal
  4. XM_011513593.2XP_011511895.1  protein FAM193A isoform X6

    Related
    ENSP00000427260.1, ENST00000513350.2
    Conserved Domains (1) summary
    pfam15914
    Location:10221075
    FAM193_C; FAM193 family C-terminal

RNA

  1. XR_002959770.1 RNA Sequence

  2. XR_002959771.1 RNA Sequence

  3. XR_001741342.2 RNA Sequence

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