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

Gene ID: 23131, updated on 11-Sep-2019

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
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

Genomic context

See GPATCH8 in Genome Data Viewer
Location:
17q21.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44395277..44503589, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42472645..42580957, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 like 1 pseudogene 5 Neighboring gene integrin subunit alpha 2b Neighboring gene RNA, 7SL, cytoplasmic 258, pseudogene Neighboring gene uncharacterized LOC105371791 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
G patch domain-containing protein 8

NCBI Reference Sequences (RefSeq)

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
    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
    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_001304943.1NP_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, CA443965
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    44395277..44503589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524557.1XP_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_024450660.1XP_024306428.1  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
  3. XM_017024375.1XP_016879864.1  G patch domain-containing protein 8 isoform X3

    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. XM_011524558.2XP_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
  5. XM_017024378.1XP_016879867.1  G patch domain-containing protein 8 isoform X3

    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. XM_017024376.2XP_016879865.1  G patch domain-containing protein 8 isoform X3

    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; ...
  7. XM_017024379.2XP_016879868.1  G patch domain-containing protein 8 isoform X3

    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; ...
  8. XM_024450661.1XP_024306429.1  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
  9. XM_024450662.1XP_024306430.1  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
  10. XM_011524559.2XP_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
  11. XM_024450664.1XP_024306432.1  G patch domain-containing protein 8 isoform X4

  12. XM_024450663.1XP_024306431.1  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
  13. XM_011524561.2XP_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
  14. XM_017024373.1XP_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
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