Display Settings:

Format

Send to:

Choose Destination

GPHN gephyrin [ Homo sapiens (human) ]

Gene ID: 10243, updated on 26-Aug-2014
Official Symbol
GPHNprovided by HGNC
Official Full Name
gephyrinprovided by HGNC
Primary source
HGNC:15465
See related
Ensembl:ENSG00000171723; HPRD:04893; MIM:603930; Vega:OTTHUMG00000029785
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
GPH; GEPH; HKPX1; GPHRYN; MOCODC
Summary
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]
See GPHN in Epigenomics, MapViewer
Location:
14q23.3
Exon count:
25
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (66507407..67181808)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (66974125..67648525)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927878 Neighboring gene long intergenic non-protein coding RNA 238 Neighboring gene probable ribosome biogenesis protein RLP24-like Neighboring gene uncharacterized LOC101927899 Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene family with sequence similarity 71, member D Neighboring gene membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1385

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molybdopterin adenylyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
molybdopterin molybdotransferase activity IEA
Inferred from Electronic Annotation
more info
 
transferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
Mo-molybdopterin cofactor biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
establishment of synaptic specificity at neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gephyrin
Names
gephyrin
NP_001019389.1
NP_065857.1

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_008875.1 

    Range
    5001..679401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001024218.1NP_001019389.1  gephyrin isoform 2

    See proteins identical to NP_001019389.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as Geph2, lacks an alternate, in-frame exon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AF272663, AL355093, BQ575870
    Consensus CDS
    CCDS32103.1
    UniProtKB/Swiss-Prot
    Q9NQX3
    Related
    ENSP00000312771, OTTHUMP00000218024, ENST00000315266, OTTHUMT00000074299
    Conserved Domains (3) summary
    COG0303
    Location:321730
    Blast Score: 953
    MoeA; Molybdopterin biosynthesis enzyme [Coenzyme metabolism]
    cd00886
    Location:15169
    Blast Score: 567
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:327733
    Blast Score: 1243
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  2. NM_020806.4NP_065857.1  gephyrin isoform 1

    See proteins identical to NP_065857.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as GephP1, represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ272343, AL355093, BC030016, BQ575870
    Consensus CDS
    CCDS9777.1
    UniProtKB/Swiss-Prot
    Q9NQX3
    Related
    ENSP00000417901, OTTHUMP00000183479, ENST00000478722, OTTHUMT00000286408
    Conserved Domains (3) summary
    COG0303
    Location:354763
    Blast Score: 957
    MoeA; Molybdopterin biosynthesis enzyme [Coenzyme metabolism]
    cd00886
    Location:15169
    Blast Score: 568
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:360766
    Blast Score: 1245
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    66507407..67181808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720003.1XP_006720066.1  

    Conserved Domains (3) summary
    COG0303
    Location:387796
    Blast Score: 957
    MoeA; Molybdopterin biosynthesis enzyme [Coenzyme metabolism]
    cd00886
    Location:15169
    Blast Score: 568
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:393799
    Blast Score: 1246
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  2. XM_005267250.1XP_005267307.1  

    Conserved Domains (3) summary
    COG0303
    Location:373782
    Blast Score: 955
    MoeA; Molybdopterin biosynthesis enzyme [Coenzyme metabolism]
    cd00886
    Location:15169
    Blast Score: 568
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:379785
    Blast Score: 1244
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  3. XM_005267253.1XP_005267310.1  

    See proteins identical to XP_005267310.1

    Conserved Domains (3) summary
    COG0303
    Location:354763
    Blast Score: 954
    MoeA; Molybdopterin biosynthesis enzyme [Coenzyme metabolism]
    cd00886
    Location:15169
    Blast Score: 567
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:360766
    Blast Score: 1244
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  4. XM_005267254.1XP_005267311.1  

    See proteins identical to XP_005267311.1

    Conserved Domains (3) summary
    COG0303
    Location:340749
    Blast Score: 951
    MoeA; Molybdopterin biosynthesis enzyme [Coenzyme metabolism]
    cd00886
    Location:15169
    Blast Score: 566
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:346752
    Blast Score: 1242
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    47144073..47817837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    66912247..67587111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)