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GHDC GH3 domain containing [ Homo sapiens (human) ]

Gene ID: 84514, updated on 24-Nov-2020

Summary

Official Symbol
GHDCprovided by HGNC
Official Full Name
GH3 domain containingprovided by HGNC
Primary source
HGNC:HGNC:24438
See related
Ensembl:ENSG00000167925 MIM:608587
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
LGP1; D11LGP1
Expression
Ubiquitous expression in kidney (RPKM 16.7), spleen (RPKM 13.2) and 25 other tissues See more
Orthologs

Genomic context

See GHDC in Genome Data Viewer
Location:
17q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42189087..42194494, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40341105..40346550, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAB5C antisense RNA 1 Neighboring gene potassium voltage-gated channel subfamily H member 4 Neighboring gene hypocretin neuropeptide precursor Neighboring gene signal transducer and activator of transcription 5B Neighboring gene signal transducer and activator of transcription 5A Neighboring gene signal transducer and activator of transcription 3

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acid-amino acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 
specific granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
GH3 domain-containing protein
Names
homolog of mouse LGP1

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.

mRNA and Protein(s)

  1. NM_001142623.2NP_001136095.1  GH3 domain-containing protein isoform 3 precursor

    See identical proteins and their annotated locations for NP_001136095.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site, resulting in a frameshifted and alternate 3' coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK075277, BC022784, DB084267
    Consensus CDS
    CCDS45682.1
    UniProtKB/Swiss-Prot
    Q8N2G8
    Related
    ENSP00000399952.2, ENST00000414034.7
    Conserved Domains (2) summary
    cl21606
    Location:249410
    PLN02247; indole-3-acetic acid-amido synthetase
    pfam03321
    Location:54420
    GH3; GH3 auxin-responsive promoter
  2. NM_032484.5NP_115873.1  GH3 domain-containing protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_115873.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC022784, DB084267
    Consensus CDS
    CCDS11422.1
    UniProtKB/Swiss-Prot
    Q8N2G8
    UniProtKB/TrEMBL
    A0A024R1Y7
    Related
    ENSP00000467585.1, ENST00000587427.6
    Conserved Domains (2) summary
    cl21606
    Location:89530
    PLN02247; indole-3-acetic acid-amido synthetase
    pfam03321
    Location:54490
    GH3; GH3 auxin-responsive promoter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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
    42189087..42194494 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001142622.1: Suppressed sequence

    Description
    NM_001142622.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to be a cloning artifact.
  2. NR_024573.1: Suppressed sequence

    Description
    NR_024573.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which may partially retain intron sequence at its 5' end.
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