Gene Gene information from NCBI Gene database.
Entrez ID 9946
Gene name Crystallin zeta like 1
Gene symbol CRYZL1
Synonyms (NCBI Gene)
4P11FERRY4Fy-4QOH-1
Chromosome 21
Chromosome location 21q22.11
Summary This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but th
miRNA miRNA information provided by mirtarbase database.
59
miRTarBase ID miRNA Experiments Reference
MIRT911218 hsa-miR-3065-5p CLIP-seq
MIRT911219 hsa-miR-3647-3p CLIP-seq
MIRT2509352 hsa-miR-1252 CLIP-seq
MIRT2509353 hsa-miR-134 CLIP-seq
MIRT2509354 hsa-miR-142-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0003960 Function Quinone reductase (NADPH) activity NAS 10191096
GO:0005515 Function Protein binding IPI 26496610, 28514442, 33961781, 37267906
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IDA 37267905
GO:0005769 Component Early endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603920 2420 ENSG00000205758
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95825
Protein name Quinone oxidoreductase-like protein 1 (EC 1.-.-.-) (Ferry endosomal RAB5 effector complex subunit 4) (Fy-4) (Protein 4P11) (Quinone oxidoreductase homolog 1) (QOH-1) (Zeta-crystallin homolog)
Protein function Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905, PubMed:37267906). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localizat
PDB 7ND2 , 8A3O
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MKGLYFQQSSTDEEITFVFQEKEDLPVTEDNFVKLQVKACALSQINTKLLAEMKMKKDLF
PVGREIAGIVLDVGSKVSFFQPDDEVVGILPLDSEDPGLCEVVRVHEHYLVHKPEKVTWT
EAAGSIRDGVRAYTALHYLSHLSPGKSVLIMDGASAFGTIAIQLAHHRGAKVISTACSLE
DKQCLERFRPPIARVIDVSNGKVHVAESCLEETGGLGVDIVLDAGVRLYSKDDEPAVKLQ
LLPHKHDIITLLGVGGHWVTTEENLQLDPPDSHCLFLKGATLAFLNDEVWNLSNVQQGKY
LCILKDVMEKLSTGVFRPQLDEPIPLYEAKVSMEAVQKNQGRKKQVVQF
Sequence length 349
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations