Q8N7U6 · EFHB_HUMAN
- ProteinEF-hand domain-containing family member B
- GeneEFHB
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids833 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189).
Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 upon store depletion and the activation of store-operated Ca2+ entry (SOCE) and NFAT translocation from cytosol to nucleus (PubMed:30481768).
Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 upon store depletion and the activation of store-operated Ca2+ entry (SOCE) and NFAT translocation from cytosol to nucleus (PubMed:30481768).
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 574 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 578 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 580 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: M | ||||||
Binding site | 585 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: E | ||||||
Binding site | 610 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 612 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 614 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 621 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: E |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | axonemal A tubule inner sheath | |
Cellular Component | axonemal microtubule | |
Cellular Component | sperm flagellum | |
Molecular Function | calcium ion binding | |
Molecular Function | calcium ion sensor activity | |
Biological Process | calcium ion transport | |
Biological Process | flagellated sperm motility | |
Biological Process | negative regulation of protein binding | |
Biological Process | regulation of calcineurin-NFAT signaling cascade | |
Biological Process | regulation of store-operated calcium entry |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameEF-hand domain-containing family member B
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N7U6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_055296 | 99 | in dbSNP:rs17795400 | |||
Sequence: G → V | ||||||
Natural variant | VAR_055297 | 269 | in dbSNP:rs13078867 | |||
Sequence: P → S | ||||||
Natural variant | VAR_027750 | 331 | in dbSNP:rs2931403 | |||
Sequence: V → I | ||||||
Natural variant | VAR_027751 | 382 | in dbSNP:rs2929366 | |||
Sequence: T → I | ||||||
Natural variant | VAR_027752 | 663 | in dbSNP:rs9868950 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_055298 | 826 | in dbSNP:rs11917204 | |||
Sequence: R → W |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,068 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000252094 | 1-833 | EF-hand domain-containing family member B | |||
Sequence: MNMEIGHPHEGKDDLGDKRVIMGTKFPMELGIRVGLGKEDSRCGESPVVSNKCEGRMAPPETKFPLSKGLEMGLERQNISRTVMQRGSLGVDSVSASQGTKPSLLPGRMGLENESLLAGYTHERIIQPPLGRVCGSSQAAGSRRAPLASGPEGVEELVGKPAFVMEPRQEMEKESTCVLMKPNTEIKLPVEVDIGLTQAEGPDETKNTEPQMGLVIEPPQCQFAQQHEQRKEAGNIESGVEPPDRIRPIYSGKFFDRTPCWPSAGKVIPVGYRVATCLTEKLPRLITPPEAKKYFNFRYPPAGVERVFYGRANDPQIAPYLTHGIRSKISVLANTLINPQPITTFQQKIKDKKESIYLSNRRAPLGKSHDQAPGLPKGMDTTNTTFGTAVIKEYSAKDVVNPPKSYEEVFKEGNEGHDLYVVSHNDYYAGEAKNRKYNPSSFHRCSVYGVPTPHFNDGRAMAKSLYWLHELQMKRGAKFVSKRADDFKEKFQHKLGRVLDPIAETMNVPPDCTFGACLRPEEYGVGDLIHNRLPDEYLRGKDRQRALIAAVRHHLKKVNYQKFDTLLAAFRHYDKKGDGMIDKDELQEACDQANLSLDDKLLDQLFDYCDVDNDGFINYLEFANFLNWKDKMLLKEYEERVIIKGRKPDCVNPTEANVEEPEQTLLIKPEDIVLKEAGSTEKTLRTLLRPSDKVSNYYKTTSSEINAIVGAIPSTCYPICGVPTIRSDIPAPRIRRISDRTNYGEEGSAYSLLYPTIFARKGVFERDFFKTRSKEEIAEILCNIGVKLSDEEFENVWNLASKKHHRGEVCVENIRNVLDELRHADRIKCKTLM |
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in airway epithelial cells.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Microtubule inner protein component of sperm flagellar doublet microtubules (By similarity).
Interacts with STIM1 and ORAI1; the interactions take place upon Ca2+-store depletion and dissociate through a Ca2+-dependent mechanism. Interaction with STIM1 inhibits STIM1 interaction with SARAF (PubMed:30481768).
Interacts with STIM1 and ORAI1; the interactions take place upon Ca2+-store depletion and dissociate through a Ca2+-dependent mechanism. Interaction with STIM1 inhibits STIM1 interaction with SARAF (PubMed:30481768).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8N7U6 | ORAI1 Q96D31 | 2 | EBI-25602059, EBI-2291476 | |
BINARY | Q8N7U6 | STIM1 Q13586 | 3 | EBI-25602059, EBI-448878 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 561-596 | EF-hand 1 | ||||
Sequence: QKFDTLLAAFRHYDKKGDGMIDKDELQEACDQANLS | ||||||
Domain | 597-632 | EF-hand 2 | ||||
Sequence: LDDKLLDQLFDYCDVDNDGFINYLEFANFLNWKDKM |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q8N7U6-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length833
- Mass (Da)93,802
- Last updated2010-11-30 v4
- Checksum52764E07C4767F15
Q8N7U6-2
- Name2
Q8N7U6-3
- Name3
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 1 | in Ref. 1; AK097644 | ||||
Sequence: M → V | ||||||
Alternative sequence | VSP_020862 | 1-130 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_020863 | 131-183 | in isoform 3 | |||
Sequence: GRVCGSSQAAGSRRAPLASGPEGVEELVGKPAFVMEPRQEMEKESTCVLMKPN → MMAHCRIDLLGSSDPPTSASQIAETTDVSHHAGLIEFLALSNSSALASRSVEI | ||||||
Sequence conflict | 276 | in Ref. 1; BAC85491 | ||||
Sequence: T → S | ||||||
Sequence conflict | 492 | in Ref. 1; AK097644 | ||||
Sequence: Q → R | ||||||
Alternative sequence | VSP_020864 | 576-632 | in isoform 2 | |||
Sequence: KGDGMIDKDELQEACDQANLSLDDKLLDQLFDYCDVDNDGFINYLEFANFLNWKDKM → AGVQWRDLGSLQPPPPRFKRFSCLSLPSSWDYRHLPPHPNFRIFSRDGVSPCWPGWS | ||||||
Sequence conflict | 628 | in Ref. 1; BAC85491 | ||||
Sequence: W → C | ||||||
Alternative sequence | VSP_020865 | 633-833 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 685 | in Ref. 1; BAC85491 | ||||
Sequence: R → W | ||||||
Sequence conflict | 737 | in Ref. 1; BAC85491 | ||||
Sequence: I → T |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK057929 EMBL· GenBank· DDBJ | BAB71614.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK097644 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AK122616 EMBL· GenBank· DDBJ | BAC85491.1 EMBL· GenBank· DDBJ | mRNA | ||
AC104182 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471055 EMBL· GenBank· DDBJ | EAW64300.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC028198 EMBL· GenBank· DDBJ | AAH28198.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |