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GPHN gephyrin [ Homo sapiens (human) ]

Gene ID: 10243, updated on 24-Nov-2020

Summary

Official Symbol
GPHNprovided by HGNC
Official Full Name
gephyrinprovided by HGNC
Primary source
HGNC:HGNC:15465
See related
Ensembl:ENSG00000171723 MIM:603930
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]
Expression
Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues See more
Orthologs

Genomic context

See GPHN in Genome Data Viewer
Location:
14q23.3-q24.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (66507934..67181805)
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 long intergenic non-protein coding RNA 2290 Neighboring gene coiled-coil domain containing 196 Neighboring gene probable ribosome biogenesis protein RLP24 pseudogene Neighboring gene uncharacterized LOC105370538 Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene family with sequence similarity 71 member D Neighboring gene membrane palmitoylated protein 5

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of depressive symptoms.
GeneReviews: Not available
Hyperekplexia 1 Compare labs
Molybdenum cofactor deficiency, complementation group C
MedGen: C1854990 OMIM: 615501 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2014-08-28)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2014-08-28)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1385

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molybdopterin adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin molybdotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nitrate reductase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Mo-molybdopterin cofactor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of synaptic specificity at neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid receptor clustering IDA
Inferred from Direct Assay
more info
PubMed 
gamma-aminobutyric acid receptor clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycine receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdenum incorporation into molybdenum-molybdopterin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdopterin cofactor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdopterin cofactor biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin cofactor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to metal ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
anchored component of synaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic specialization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gephyrin
NP_001019389.1
NP_001364443.1
NP_001364444.1
NP_001364445.1
NP_001364446.1
NP_001364447.1
NP_001364448.1
NP_065857.1
XP_011534642.1
XP_011534644.1
XP_011534645.1
XP_011534646.1
XP_011534647.1
XP_016876402.1
XP_016876403.1
XP_016876406.1
XP_016876407.1
XP_016876409.1
XP_016876410.1
XP_016876411.1
XP_016876412.1
XP_016876413.1
XP_016876415.1

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_008875.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001024218.2NP_001019389.1  gephyrin isoform 2

    See identical proteins and their annotated locations for 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)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Consensus CDS
    CCDS32103.1
    UniProtKB/Swiss-Prot
    Q9NQX3
    Related
    ENSP00000312771.5, ENST00000315266.9
    Conserved Domains (2) summary
    cd00886
    Location:15169
    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
    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_001377514.1NP_001364443.1  gephyrin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
  3. NM_001377515.1NP_001364444.1  gephyrin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15169
    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:370776
    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. NM_001377516.1NP_001364445.1  gephyrin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15169
    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:367773
    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 ...
  5. NM_001377517.1NP_001364446.1  gephyrin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
  6. NM_001377518.1NP_001364447.1  gephyrin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15169
    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
    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 ...
  7. NM_001377519.1NP_001364448.1  gephyrin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:340746
    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 ...
  8. NM_020806.5NP_065857.1  gephyrin isoform 1

    See identical proteins and their annotated locations for 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)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Consensus CDS
    CCDS9777.1
    UniProtKB/Swiss-Prot
    Q9NQX3
    Related
    ENSP00000417901.1, ENST00000478722.5
    Conserved Domains (2) summary
    cd00886
    Location:15169
    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
    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 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_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    66507934..67181805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020921.1XP_016876410.1  gephyrin isoform X17

    Conserved Domains (2) summary
    cd00887
    Location:293699
    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 ...
    cl00451
    Location:159
    MoCF_BD; molybdenum cofactor (MoCF) binding domain (BD). This domain is found a variety of proteins involved in biosynthesis of molybdopterin cofactor, like MoaB, MogA, and MoeA. The domain is presumed to bind molybdopterin.
  2. XM_017020923.1XP_016876412.1  gephyrin isoform X18

    Conserved Domains (2) summary
    cd00887
    Location:250656
    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 ...
    cl00451
    Location:159
    MoCF_BD; molybdenum cofactor (MoCF) binding domain (BD). This domain is found a variety of proteins involved in biosynthesis of molybdopterin cofactor, like MoaB, MogA, and MoeA. The domain is presumed to bind molybdopterin.
  3. XM_017020924.1XP_016876413.1  gephyrin isoform X19

    Conserved Domains (2) summary
    COG0303
    Location:71480
    MoeA; Molybdopterin biosynthesis enzyme [Coenzyme transport and metabolism]
    cd00887
    Location:77483
    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_017020926.1XP_016876415.1  gephyrin isoform X21

  5. XM_011536340.3XP_011534642.1  gephyrin isoform X1

    See identical proteins and their annotated locations for XP_011534642.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:416822
    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 ...
  6. XM_017020913.2XP_016876402.1  gephyrin isoform X2

    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:413819
    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 ...
  7. XM_011536343.3XP_011534645.1  gephyrin isoform X5

    See identical proteins and their annotated locations for XP_011534645.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:392798
    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 ...
  8. XM_017020914.2XP_016876403.1  gephyrin isoform X4

    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:397803
    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 ...
  9. XM_011536345.3XP_011534647.1  gephyrin isoform X8

    See identical proteins and their annotated locations for XP_011534647.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:373779
    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 ...
  10. XM_011536344.3XP_011534646.1  gephyrin isoform X6

    See identical proteins and their annotated locations for XP_011534646.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:383789
    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 ...
  11. XM_017020918.2XP_016876407.1  gephyrin isoform X12

    Related
    ENSP00000438404.1, ENST00000543237.5
    Conserved Domains (2) summary
    cd00886
    Location:15182
    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:359765
    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 ...
  12. XM_017020917.2XP_016876406.1  gephyrin isoform X11

  13. XM_011536342.3XP_011534644.1  gephyrin isoform X3

    See identical proteins and their annotated locations for XP_011534644.1

    Conserved Domains (2) summary
    cd00886
    Location:15169
    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:403809
    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 ...
  14. XM_017020920.2XP_016876409.1  gephyrin isoform X16

  15. XM_017020922.1XP_016876411.1  gephyrin isoform X17

    Conserved Domains (2) summary
    cd00887
    Location:293699
    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 ...
    cl00451
    Location:159
    MoCF_BD; molybdenum cofactor (MoCF) binding domain (BD). This domain is found a variety of proteins involved in biosynthesis of molybdopterin cofactor, like MoaB, MogA, and MoeA. The domain is presumed to bind molybdopterin.
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