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    GPATCH8 G-patch domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 23131, updated on 9-Dec-2024

    Summary

    Official Symbol
    GPATCH8provided by HGNC
    Official Full Name
    G-patch domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:29066
    See related
    Ensembl:ENSG00000186566 MIM:614396; AllianceGenome:HGNC:29066
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPATC8; KIAA0553
    Summary
    The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
    Expression
    Ubiquitous expression in testis (RPKM 2.5), ovary (RPKM 2.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GPATCH8 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44395281..44503406, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45249263..45357414, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42472649..42580774, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42446497-42446996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42452529-42453106 Neighboring gene RPL7L1 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42456825-42457781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12261 Neighboring gene integrin subunit alpha 2b Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42474848-42475348 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42477560-42478023 Neighboring gene RNA, 7SL, cytoplasmic 258, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42498551-42499524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12263 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42588763-42589328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42610782-42611286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42611287-42611790 Neighboring gene uncharacterized LOC105371791 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42617132-42618126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42625431-42625978 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42633347-42634116 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:42634117-42634884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42635102-42636062 Neighboring gene frizzled class receptor 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    G patch domain-containing protein 8

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_041943.1 RefSeqGene

      Range
      5197..113322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002909.4NP_001002909.1  G patch domain-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_001002909.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK025600, BC024147, BC136629, HY048299
      Consensus CDS
      CCDS32666.1
      UniProtKB/Swiss-Prot
      B9EGP9, O60300, Q8TB99, Q9UKJ3
      Related
      ENSP00000467556.1, ENST00000591680.6
      Conserved Domains (3) summary
      pfam01585
      Location:4082
      G-patch; G-patch domain
      pfam12171
      Location:136163
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl02488
      Location:94206
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    2. NM_001304939.2NP_001291868.1  G patch domain-containing protein 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC024147, BC136629, CN388519, HY048299
      UniProtKB/Swiss-Prot
      Q9UKJ3
      Related
      ENST00000335500.8
      Conserved Domains (3) summary
      pfam01585
      Location:1657
      G-patch; G-patch domain
      pfam12171
      Location:111138
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl02488
      Location:69181
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    3. NM_001304940.2NP_001291869.1  G patch domain-containing protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001291869.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains two alternate exons in the 5' region compared to variant 1. This variant represents translation initiation at an in-frame downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
      Source sequence(s)
      AK025600, BC024147, BC136629, DA736259, HY048299
      UniProtKB/Swiss-Prot
      Q9UKJ3
      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl02488
      Location:16128
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    4. NM_001304941.2NP_001291870.1  G patch domain-containing protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001291870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' region compared to variant 1. This variant represents translation initiation at an in-frame downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
      Source sequence(s)
      BC024147, BC136629, HY048299
      UniProtKB/Swiss-Prot
      Q9UKJ3
      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl02488
      Location:16128
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    5. NM_001304942.2NP_001291871.1  G patch domain-containing protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001291871.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate 5' exon compared to variant 1. This variant represents translation initiation at an in-frame downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
      Source sequence(s)
      BC024147, BC136629, CN388517, HY048299
      UniProtKB/Swiss-Prot
      Q9UKJ3
      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl02488
      Location:16128
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    6. NM_001304943.2NP_001291872.1  G patch domain-containing protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001291872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks several exons in the 5' coding region, its 5' terminal exon extends upstream of a splice site that is used in variant 1, and it represents use of an alternate promoter. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1.The encoded isoform (3) is shorter than isoform 1. Variants 3, 4, 5 and 6 encode the same protein.
      Source sequence(s)
      AK025600, BC024147, BC136629, BM722954
      UniProtKB/Swiss-Prot
      Q9UKJ3
      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl02488
      Location:16128
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44395281..44503406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524557.2XP_011522859.1  G patch domain-containing protein 8 isoform X1

      Conserved Domains (2) summary
      pfam01585
      Location:4082
      G-patch; G-patch domain
      pfam12171
      Location:136163
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
    2. XM_011524558.3XP_011522860.1  G patch domain-containing protein 8 isoform X2

      See identical proteins and their annotated locations for XP_011522860.1

      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl25732
      Location:11158
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_011524561.3XP_011522863.1  G patch domain-containing protein 8 isoform X2

      See identical proteins and their annotated locations for XP_011522863.1

      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl25732
      Location:11158
      SMC_N; RecF/RecN/SMC N terminal domain
    4. XM_011524559.3XP_011522861.1  G patch domain-containing protein 8 isoform X2

      See identical proteins and their annotated locations for XP_011522861.1

      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl25732
      Location:11158
      SMC_N; RecF/RecN/SMC N terminal domain
    5. XM_017024373.2XP_016879862.1  G patch domain-containing protein 8 isoform X2

      Conserved Domains (2) summary
      pfam12171
      Location:5885
      zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
      cl25732
      Location:11158
      SMC_N; RecF/RecN/SMC N terminal domain
    6. XM_047435672.1XP_047291628.1  G patch domain-containing protein 8 isoform X2

    7. XM_047435673.1XP_047291629.1  G patch domain-containing protein 8 isoform X2

    8. XM_047435674.1XP_047291630.1  G patch domain-containing protein 8 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45249263..45357414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315563.1XP_054171538.1  G patch domain-containing protein 8 isoform X1

    2. XM_054315567.1XP_054171542.1  G patch domain-containing protein 8 isoform X2

    3. XM_054315565.1XP_054171540.1  G patch domain-containing protein 8 isoform X2

    4. XM_054315571.1XP_054171546.1  G patch domain-containing protein 8 isoform X3

    5. XM_054315564.1XP_054171539.1  G patch domain-containing protein 8 isoform X2

    6. XM_054315566.1XP_054171541.1  G patch domain-containing protein 8 isoform X2

    7. XM_054315570.1XP_054171545.1  G patch domain-containing protein 8 isoform X2

    8. XM_054315568.1XP_054171543.1  G patch domain-containing protein 8 isoform X2

    9. XM_054315569.1XP_054171544.1  G patch domain-containing protein 8 isoform X2