Gene Gene information from NCBI Gene database.
Entrez ID 64168
Gene name N-terminal EF-hand calcium binding protein 1
Gene symbol NECAB1
Synonyms (NCBI Gene)
EFCBP1STIP-1
Chromosome 8
Chromosome location 8q21.3
miRNA miRNA information provided by mirtarbase database.
613
miRTarBase ID miRNA Experiments Reference
MIRT016968 hsa-miR-335-5p Microarray 18185580
MIRT607611 hsa-miR-8485 HITS-CLIP 19536157
MIRT609840 hsa-miR-567 HITS-CLIP 19536157
MIRT607607 hsa-miR-223-5p HITS-CLIP 19536157
MIRT609839 hsa-miR-297 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0001835 Process Blastocyst hatching IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N987
Protein name N-terminal EF-hand calcium-binding protein 1 (EF-hand calcium-binding protein 1) (Neuronal calcium-binding protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 15 58 EF-hand domain pair Domain
PF03992 ABM 251 326 Antibiotic biosynthesis monooxygenase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain (at protein level). {ECO:0000269|PubMed:12044471}.
Sequence
MEDSQETSPSSNNSSEELSSALHLSKGMSIFLDILRRADKNDDGKLSFEEFKAYFADGVL
SGEELHELFHTIDTHNTNNLDTEELCEYFSQHLGEYENVLAALEDLNLSILKAMGKTKKD
YQEASNLEQFVTRFLLKETLNQLQSLQNSLECAMETTEEQTRQERQGPAKPEVLSIQWPG
KRSSRRVQRHNSFSPNSPQFNVSGPGLLEEDNQWMTQINRLQKLIDRLEKKDLKLEPPEE
EIIEGNTKSHIMLVQRQMSVIEEDLEEFQLALKHYVESASSQSGCLRISIQKLSNESRYM
IYEFWENSSVWNSHLQTNYSKTFQRS
NVDFLETPELTSTMLVPASWWILNN
Sequence length 351
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA 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
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 2140897
★☆☆☆☆
Found in Text Mining only