gem-associated protein 5 isoform 1 [Homo sapiens]

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.
Show in Genome Data Viewer
Opens the Genome Data Viewer, NCBI's genome browser, at the genomic location at which this sequence is annotated. View this sequence in the context of other features annotated at the same location and browse to other genome regions.

Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies. [Brain Behav. 2024]
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J, Liu X, Zhu G, Wan L, Liang Y, Li N, Huang M, Yang G. Brain Behav. 2024 May; 14(5):e3535.
Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment. [Eur J Hum Genet. 2024]
Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, et al. Eur J Hum Genet. 2024 Apr; 32(4):426-434. Epub 2024 Feb 5.
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. [Genes (Basel). 2023]
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Ibrahim N, Naz S, Mattioli F, Guex N, Sharif S, Iqbal A, Ansar M, Reymond A. Genes (Basel). 2023 Mar 13; 14(3). Epub 2023 Mar 13.

RefSeq genomic sequence
See the genomic reference sequence for the GEMIN5 gene (NG_052854.1).
RefSeq mRNA
See reference mRNA sequence for the GEMIN5 gene (NM_015465.5).
RefSeq protein isoforms
See the other reference sequence protein isoform for the GEMIN5 gene (NP_001239085.1).

BioProject
Proteins related to BioProjects
Nucleotide
Nucleotide sequence from coding region
PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CCDS
Link to Consensus CDS
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Encoding mRNA
Link from protein to encoding mRNA
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
Genome
Genome record encoding protein sequence
HomoloGene
Related HomoloGene
Identical Structures
3D structures for identical protein sequences
OMIM
OMIM records associated with protein sequence
Protein (UniProtKB)
Protein gi (refseq) to protein gi (UniProtKB)
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed
Related Structures (List)
List of related structures
SNP
Related SNPs

NP_056280 [Domain Mapping of Disease Mut...]
NP_056280
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

Your browsing activity is empty.

Activity recording is turned off.

Protein