Gene Gene information from NCBI Gene database.
Entrez ID 79663
Gene name HSPB1 associated protein 1
Gene symbol HSPBAP1
Synonyms (NCBI Gene)
PASS1
Chromosome 3
Chromosome location 3q21.1
Summary This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, al
miRNA miRNA information provided by mirtarbase database.
107
miRTarBase ID miRNA Experiments Reference
MIRT024673 hsa-miR-215-5p Microarray 19074876
MIRT026793 hsa-miR-192-5p Microarray 19074876
MIRT1056599 hsa-miR-1 CLIP-seq
MIRT1056600 hsa-miR-1276 CLIP-seq
MIRT1056601 hsa-miR-206 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24981860, 25416956, 28514442, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0016706 Function 2-oxoglutarate-dependent dioxygenase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608263 16389 ENSG00000169087
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EW2
Protein name HSPB1-associated protein 1 (27 kDa heat shock protein-associated protein 1) (Protein associated with small stress protein 1)
Protein function May play a role in cellular stress response.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13621 Cupin_8 30 279 Cupin-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11978969}.
Sequence
MAAGSEATTPVIVAAGAGGEEGEHVKPFKPEKAKEIIMSLQQPAIFCNMVFDWPARHWNA
KYLSQVLHGKQIRFRMGMKSMSTVPQFETTCNYVEATLEEFLTWNCDQSSISGPFRDYDH
SKFWAYADYKYFVSLFEDKTDLFQDVKWSDFGFPGRNGQESTLWIGSLGAHTPCHLDSYG
CNLVFQVQGRKRWHLFPPEDTPFLYPTRIPYEESSVFSKINVVNPDLKRFPQFRKAQRHA
VTLSPGQVLFVPRHWWHYVESIDPVTVSINSWIELEEDH
LARVEEAITRMLVCALKTAEN
PQNTRAWLNPTEVEETSHAVNCCYLNAAVSAFFDRCRTSEVVEIQALRTDGEHMKKEELN
VCNHMEVGQTGSQNLTTGTDKPEAASPFGPDLVPVAQRSEEPPSERGGIFGSDGKDFVDK
DGEHFGKLHCAKRQQIMSNSENAIEEQIASNTTTTPQTFISTDDLLDCLVNPQVTRIVAQ
LLIQGRSL
Sequence length 488
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
ATRIAL HEART SEPTAL DEFECT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25798051 Associate
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 30524971
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 17568411
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy LHGDN 17568411
★☆☆☆☆
Found in Text Mining only
Hereditary clear cell renal cell carcinoma Hereditary Renal Carcinoma ORPHANET_DG 12939738
★☆☆☆☆
Found in Text Mining only
Hereditary clear cell renal cell carcinoma Hereditary Renal Carcinoma Orphanet
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 25359680
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 25359680
★☆☆☆☆
Found in Text Mining only