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Protein

EF-hand domain-containing family member B

Gene

EFHB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi572 – 5821PROSITE-ProRule annotationAdd BLAST11
Calcium bindingi610 – 6212PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163576-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand domain-containing family member B
Gene namesi
Name:EFHB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:26330. EFHB.

Pathology & Biotechi

Organism-specific databases

DisGeNETi151651.
OpenTargetsiENSG00000163576.
PharmGKBiPA134987079.

Polymorphism and mutation databases

BioMutaiEFHB.
DMDMi313104304.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002520941 – 833EF-hand domain-containing family member BAdd BLAST833

Proteomic databases

PaxDbiQ8N7U6.
PeptideAtlasiQ8N7U6.
PRIDEiQ8N7U6.

PTM databases

iPTMnetiQ8N7U6.
PhosphoSitePlusiQ8N7U6.

Expressioni

Gene expression databases

BgeeiENSG00000163576.
CleanExiHS_EFHB.
ExpressionAtlasiQ8N7U6. baseline and differential.
GenevisibleiQ8N7U6. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000295824.

Structurei

3D structure databases

ProteinModelPortaliQ8N7U6.
SMRiQ8N7U6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini561 – 596EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini597 – 632EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IG5F. Eukaryota.
ENOG410XTFI. LUCA.
GeneTreeiENSGT00390000018067.
HOGENOMiHOG000236296.
HOVERGENiHBG065756.
InParanoidiQ8N7U6.
OMAiCWPSAGK.
OrthoDBiEOG091G04M8.
PhylomeDBiQ8N7U6.
TreeFamiTF323832.

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N7U6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MNMEIGHPHE GKDDLGDKRV IMGTKFPMEL GIRVGLGKED SRCGESPVVS
60 70 80 90 100
NKCEGRMAPP ETKFPLSKGL EMGLERQNIS RTVMQRGSLG VDSVSASQGT
110 120 130 140 150
KPSLLPGRMG LENESLLAGY THERIIQPPL GRVCGSSQAA GSRRAPLASG
160 170 180 190 200
PEGVEELVGK PAFVMEPRQE MEKESTCVLM KPNTEIKLPV EVDIGLTQAE
210 220 230 240 250
GPDETKNTEP QMGLVIEPPQ CQFAQQHEQR KEAGNIESGV EPPDRIRPIY
260 270 280 290 300
SGKFFDRTPC WPSAGKVIPV GYRVATCLTE KLPRLITPPE AKKYFNFRYP
310 320 330 340 350
PAGVERVFYG RANDPQIAPY LTHGIRSKIS VLANTLINPQ PITTFQQKIK
360 370 380 390 400
DKKESIYLSN RRAPLGKSHD QAPGLPKGMD TTNTTFGTAV IKEYSAKDVV
410 420 430 440 450
NPPKSYEEVF KEGNEGHDLY VVSHNDYYAG EAKNRKYNPS SFHRCSVYGV
460 470 480 490 500
PTPHFNDGRA MAKSLYWLHE LQMKRGAKFV SKRADDFKEK FQHKLGRVLD
510 520 530 540 550
PIAETMNVPP DCTFGACLRP EEYGVGDLIH NRLPDEYLRG KDRQRALIAA
560 570 580 590 600
VRHHLKKVNY QKFDTLLAAF RHYDKKGDGM IDKDELQEAC DQANLSLDDK
610 620 630 640 650
LLDQLFDYCD VDNDGFINYL EFANFLNWKD KMLLKEYEER VIIKGRKPDC
660 670 680 690 700
VNPTEANVEE PEQTLLIKPE DIVLKEAGST EKTLRTLLRP SDKVSNYYKT
710 720 730 740 750
TSSEINAIVG AIPSTCYPIC GVPTIRSDIP APRIRRISDR TNYGEEGSAY
760 770 780 790 800
SLLYPTIFAR KGVFERDFFK TRSKEEIAEI LCNIGVKLSD EEFENVWNLA
810 820 830
SKKHHRGEVC VENIRNVLDE LRHADRIKCK TLM
Length:833
Mass (Da):93,802
Last modified:November 30, 2010 - v4
Checksum:i52764E07C4767F15
GO
Isoform 2 (identifier: Q8N7U6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     576-632: KGDGMIDKDE...ANFLNWKDKM → AGVQWRDLGS...GVSPCWPGWS
     633-833: Missing.

Note: No experimental confirmation available.
Show »
Length:632
Mass (Da):70,843
Checksum:i775579B9732EBFBC
GO
Isoform 3 (identifier: Q8N7U6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-130: Missing.
     131-183: GRVCGSSQAA...ESTCVLMKPN → MMAHCRIDLL...SALASRSVEI

Note: No experimental confirmation available.
Show »
Length:703
Mass (Da):79,626
Checksum:i44A9BD9C68D33D47
GO

Sequence cautioni

The sequence AAH28198 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB71614 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1M → V in AK097644 (PubMed:14702039).Curated1
Sequence conflicti276T → S in BAC85491 (PubMed:14702039).Curated1
Sequence conflicti492Q → R in AK097644 (PubMed:14702039).Curated1
Sequence conflicti628W → C in BAC85491 (PubMed:14702039).Curated1
Sequence conflicti685R → W in BAC85491 (PubMed:14702039).Curated1
Sequence conflicti737I → T in BAC85491 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05529699G → V.Corresponds to variant rs17795400dbSNPEnsembl.1
Natural variantiVAR_055297269P → S.Corresponds to variant rs13078867dbSNPEnsembl.1
Natural variantiVAR_027750331V → I.2 PublicationsCorresponds to variant rs2931403dbSNPEnsembl.1
Natural variantiVAR_027751382T → I.1 PublicationCorresponds to variant rs2929366dbSNPEnsembl.1
Natural variantiVAR_027752663Q → P.Corresponds to variant rs9868950dbSNPEnsembl.1
Natural variantiVAR_055298826R → W.Corresponds to variant rs11917204dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0208621 – 130Missing in isoform 3. 1 PublicationAdd BLAST130
Alternative sequenceiVSP_020863131 – 183GRVCG…LMKPN → MMAHCRIDLLGSSDPPTSAS QIAETTDVSHHAGLIEFLAL SNSSALASRSVEI in isoform 3. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_020864576 – 632KGDGM…WKDKM → AGVQWRDLGSLQPPPPRFKR FSCLSLPSSWDYRHLPPHPN FRIFSRDGVSPCWPGWS in isoform 2. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_020865633 – 833Missing in isoform 2. 1 PublicationAdd BLAST201

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057929 mRNA. Translation: BAB71614.1. Different initiation.
AK097644 mRNA. No translation available.
AK122616 mRNA. Translation: BAC85491.1.
AC104182 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64300.1.
BC028198 mRNA. Translation: AAH28198.1. Different initiation.
CCDSiCCDS33715.2. [Q8N7U6-1]
CCDS82744.1. [Q8N7U6-3]
RefSeqiNP_001317617.1. NM_001330688.1.
NP_653316.3. NM_144715.3. [Q8N7U6-1]
UniGeneiHs.733920.

Genome annotation databases

EnsembliENST00000295824; ENSP00000295824; ENSG00000163576. [Q8N7U6-1]
ENST00000344838; ENSP00000342263; ENSG00000163576. [Q8N7U6-3]
GeneIDi151651.
KEGGihsa:151651.
UCSCiuc003cbl.5. human. [Q8N7U6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057929 mRNA. Translation: BAB71614.1. Different initiation.
AK097644 mRNA. No translation available.
AK122616 mRNA. Translation: BAC85491.1.
AC104182 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64300.1.
BC028198 mRNA. Translation: AAH28198.1. Different initiation.
CCDSiCCDS33715.2. [Q8N7U6-1]
CCDS82744.1. [Q8N7U6-3]
RefSeqiNP_001317617.1. NM_001330688.1.
NP_653316.3. NM_144715.3. [Q8N7U6-1]
UniGeneiHs.733920.

3D structure databases

ProteinModelPortaliQ8N7U6.
SMRiQ8N7U6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000295824.

PTM databases

iPTMnetiQ8N7U6.
PhosphoSitePlusiQ8N7U6.

Polymorphism and mutation databases

BioMutaiEFHB.
DMDMi313104304.

Proteomic databases

PaxDbiQ8N7U6.
PeptideAtlasiQ8N7U6.
PRIDEiQ8N7U6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295824; ENSP00000295824; ENSG00000163576. [Q8N7U6-1]
ENST00000344838; ENSP00000342263; ENSG00000163576. [Q8N7U6-3]
GeneIDi151651.
KEGGihsa:151651.
UCSCiuc003cbl.5. human. [Q8N7U6-1]

Organism-specific databases

CTDi151651.
DisGeNETi151651.
GeneCardsiEFHB.
HGNCiHGNC:26330. EFHB.
neXtProtiNX_Q8N7U6.
OpenTargetsiENSG00000163576.
PharmGKBiPA134987079.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG5F. Eukaryota.
ENOG410XTFI. LUCA.
GeneTreeiENSGT00390000018067.
HOGENOMiHOG000236296.
HOVERGENiHBG065756.
InParanoidiQ8N7U6.
OMAiCWPSAGK.
OrthoDBiEOG091G04M8.
PhylomeDBiQ8N7U6.
TreeFamiTF323832.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163576-MONOMER.

Miscellaneous databases

ChiTaRSiEFHB. human.
GenomeRNAii151651.
PROiQ8N7U6.

Gene expression databases

BgeeiENSG00000163576.
CleanExiHS_EFHB.
ExpressionAtlasiQ8N7U6. baseline and differential.
GenevisibleiQ8N7U6. HS.

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 2 hits.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEFHB_HUMAN
AccessioniPrimary (citable) accession number: Q8N7U6
Secondary accession number(s): A6ND25
, A8MPR3, Q6ZWK9, Q8IV58, Q96LQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: November 30, 2010
Last modified: November 30, 2016
This is version 101 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.