KLHL33 (kelch like family member 33)

Gene
Gene Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123103
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch like family member 33
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLHL33
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Other IDs Protein Associated diseases
UniProt ID A6NCF5
Protein name Kelch-like protein 33
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07707 BACK 75 → 176 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 261 → 309 Kelch motif Repeat
PF01344 Kelch_1 311 → 356 Kelch motif Repeat
PF01344 Kelch_1 407 → 452 Kelch motif Repeat
Sequence 
MLLSGMRESQGTEVSLRTISTQDLRLLVSFAYSGVVRARWPGLLRAAQAALQYQSSSCLD
LCQKGLARGLSPARCLALFPMAEAPGLERLWSKARHYLLTHLPAVALCPAFPSLPAACLA
ELLDSDELHVQEEFEAFVAARCWLAANPETQESEAKALLRCVRFGRMSTRELRRVRAAGL
LPPLTPDLLHQLMVEADVPGQERRREPDRALVVIGGDGLRPDMALRQPSRAVWWARAFRC
GVGLVRTVEWGQLPALPAPGRFRHGAASLAGSELYVCGGQDFYSHSNTLASTLRWEPSQE
DWEEMAPLSQARSLFSLVALDGKLYALGGRHNDVALDSVETYNPELNVWRPAPALPAPCF
AHAAAILEGQLYVSGGCGGTGQYLASLMHYDPKLEKPGTFLSPMGVPRAGHVMAALGGRL
YVAGGLGETEDLLSFEAYELRTDSWTHLAPLPSPHVGAASAVLQGELLVLGGYSHRTYAL
SHLIHAYCPGLGRWLCLGTLPRPRAEMPACILTLPAVQHIALVPTPHQTKPAG
Sequence length 533
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Takayasu Arteritis Takayasu arteritis N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Prostatic Neoplasms Associate 25371445
Takayasu Arteritis Associate 30498034