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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)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi572 – 582111PROSITE-ProRule annotationAdd
BLAST
Calcium bindingi610 – 621122PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

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

PharmGKBiPA134987079.

Polymorphism and mutation databases

BioMutaiEFHB.
DMDMi313104304.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 833833EF-hand domain-containing family member BPRO_0000252094Add
BLAST

Proteomic databases

EPDiQ8N7U6.
PaxDbiQ8N7U6.
PRIDEiQ8N7U6.

PTM databases

iPTMnetiQ8N7U6.
PhosphoSiteiQ8N7U6.

Expressioni

Gene expression databases

BgeeiQ8N7U6.
CleanExiHS_EFHB.
ExpressionAtlasiQ8N7U6. baseline and differential.
GenevisibleiQ8N7U6. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000295824.

Structurei

3D structure databases

ProteinModelPortaliQ8N7U6.
SMRiQ8N7U6. Positions 563-626.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini561 – 59636EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini597 – 63236EF-hand 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IG5F. Eukaryota.
ENOG410XTFI. LUCA.
GeneTreeiENSGT00390000018067.
HOGENOMiHOG000236296.
HOVERGENiHBG065756.
InParanoidiQ8N7U6.
OMAiCWPSAGK.
OrthoDBiEOG790G0F.
PhylomeDBiQ8N7U6.
TreeFamiTF323832.

Family and domain databases

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 AAH28198.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB71614.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 11M → V in AK097644 (PubMed:14702039).Curated
Sequence conflicti276 – 2761T → S in BAC85491 (PubMed:14702039).Curated
Sequence conflicti492 – 4921Q → R in AK097644 (PubMed:14702039).Curated
Sequence conflicti628 – 6281W → C in BAC85491 (PubMed:14702039).Curated
Sequence conflicti685 – 6851R → W in BAC85491 (PubMed:14702039).Curated
Sequence conflicti737 – 7371I → T in BAC85491 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti99 – 991G → V.
Corresponds to variant rs17795400 [ dbSNP | Ensembl ].
VAR_055296
Natural varianti269 – 2691P → S.
Corresponds to variant rs13078867 [ dbSNP | Ensembl ].
VAR_055297
Natural varianti331 – 3311V → I.2 Publications
Corresponds to variant rs2931403 [ dbSNP | Ensembl ].
VAR_027750
Natural varianti382 – 3821T → I.1 Publication
Corresponds to variant rs2929366 [ dbSNP | Ensembl ].
VAR_027751
Natural varianti663 – 6631Q → P.
Corresponds to variant rs9868950 [ dbSNP | Ensembl ].
VAR_027752
Natural varianti826 – 8261R → W.
Corresponds to variant rs11917204 [ dbSNP | Ensembl ].
VAR_055298

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 130130Missing in isoform 3. 1 PublicationVSP_020862Add
BLAST
Alternative sequencei131 – 18353GRVCG…LMKPN → MMAHCRIDLLGSSDPPTSAS QIAETTDVSHHAGLIEFLAL SNSSALASRSVEI in isoform 3. 1 PublicationVSP_020863Add
BLAST
Alternative sequencei576 – 63257KGDGM…WKDKM → AGVQWRDLGSLQPPPPRFKR FSCLSLPSSWDYRHLPPHPN FRIFSRDGVSPCWPGWS in isoform 2. 1 PublicationVSP_020864Add
BLAST
Alternative sequencei633 – 833201Missing in isoform 2. 1 PublicationVSP_020865Add
BLAST

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]
RefSeqiNP_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]
RefSeqiNP_653316.3. NM_144715.3. [Q8N7U6-1]
UniGeneiHs.733920.

3D structure databases

ProteinModelPortaliQ8N7U6.
SMRiQ8N7U6. Positions 563-626.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000295824.

PTM databases

iPTMnetiQ8N7U6.
PhosphoSiteiQ8N7U6.

Polymorphism and mutation databases

BioMutaiEFHB.
DMDMi313104304.

Proteomic databases

EPDiQ8N7U6.
PaxDbiQ8N7U6.
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.
GeneCardsiEFHB.
HGNCiHGNC:26330. EFHB.
neXtProtiNX_Q8N7U6.
PharmGKBiPA134987079.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG5F. Eukaryota.
ENOG410XTFI. LUCA.
GeneTreeiENSGT00390000018067.
HOGENOMiHOG000236296.
HOVERGENiHBG065756.
InParanoidiQ8N7U6.
OMAiCWPSAGK.
OrthoDBiEOG790G0F.
PhylomeDBiQ8N7U6.
TreeFamiTF323832.

Miscellaneous databases

ChiTaRSiEFHB. human.
GenomeRNAii151651.
PROiQ8N7U6.

Gene expression databases

BgeeiQ8N7U6.
CleanExiHS_EFHB.
ExpressionAtlasiQ8N7U6. baseline and differential.
GenevisibleiQ8N7U6. HS.

Family and domain databases

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...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 598-833 (ISOFORM 1), VARIANT ILE-331.
    Tissue: Kidney proximal tubule, Lung and Testis.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ILE-331 AND ILE-382.
    Tissue: Lung.

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: June 8, 2016
This is version 96 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.