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Q9BUP0 (EFHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
EF-hand domain-containing protein D1
Alternative name(s):
EF-hand domain-containing protein 1
Swiprosin-2
Gene names
Name:EFHD1
Synonyms:SWS2
ORF Names:PP3051
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length239 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 2 EF-hand domains.

Sequence caution

The sequence AAG17248.1 differs from that shown. Reason: Frameshift at position 72.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   LigandCalcium
Metal-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processneuron projection development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentmitochondrial inner membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BUP0-1)

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.
Isoform 2 (identifier: Q9BUP0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: MASEELACKL...IKDLESMFKL → MGELQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 239239EF-hand domain-containing protein D1
PRO_0000073643

Regions

Domain90 – 12536EF-hand 1
Domain126 – 16136EF-hand 2
Calcium binding103 – 114121 Potential
Calcium binding139 – 150122 Potential

Natural variations

Alternative sequence1 – 101101MASEE…SMFKL → MGELQ in isoform 2.
VSP_045541
Natural variant1861K → R. Ref.2 Ref.4
Corresponds to variant rs11550699 [ dbSNP | Ensembl ].
VAR_047966

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 1712F79E2A3CC007

FASTA23926,928
        10         20         30         40         50         60 
MASEELACKL ERRLRREEAE ESGPQLAPLG APAPEPKPEP EPPARAPTAS ADAELSAQLS 

        70         80         90        100        110        120 
RRLDINEGAA RPRRCRVFNP YTEFPEFSRR LIKDLESMFK LYDAGRDGFI DLMELKLMME 

       130        140        150        160        170        180 
KLGAPQTHLG LKSMIKEVDE DFDGKLSFRE FLLIFHKAAA GELQEDSGLM ALAKLSEIDV 

       190        200        210        220        230 
ALEGVKGAKN FFEAKVQALS SASKFEAELK AEQDERKREE EERRLRQAAF QKLKANFNT 

« Hide

Isoform 2 [UniParc].

Checksum: AF28A675916BE056
Show »

FASTA14316,145

References

[1]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]"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. expand/collapse author list , 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 1 AND 2), VARIANT ARG-186.
Tissue: Heart, Placenta and Thymus.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
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), VARIANT ARG-186.
Tissue: Eye and Lung.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF218006 mRNA. Translation: AAG17248.1. Frameshift.
AK023674 mRNA. Translation: BAB14634.1.
AK310565 mRNA. No translation available.
AK315442 mRNA. Translation: BAG37830.1.
AC064852 Genomic DNA. No translation available.
AC073254 Genomic DNA. No translation available.
BC002449 mRNA. Translation: AAH02449.1.
BC004128 mRNA. Translation: AAH04128.2.
CCDSCCDS2497.1. [Q9BUP0-1]
CCDS58755.1. [Q9BUP0-2]
RefSeqNP_001230181.1. NM_001243252.1. [Q9BUP0-2]
NP_079478.1. NM_025202.3. [Q9BUP0-1]
UniGeneHs.516769.
Hs.744624.

3D structure databases

ProteinModelPortalQ9BUP0.
SMRQ9BUP0. Positions 66-233.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123216. 6 interactions.
IntActQ9BUP0. 1 interaction.
STRING9606.ENSP00000264059.

PTM databases

PhosphoSiteQ9BUP0.

Polymorphism databases

DMDM20140222.

Proteomic databases

MaxQBQ9BUP0.
PaxDbQ9BUP0.
PeptideAtlasQ9BUP0.
PRIDEQ9BUP0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264059; ENSP00000264059; ENSG00000115468. [Q9BUP0-1]
ENST00000409613; ENSP00000386556; ENSG00000115468. [Q9BUP0-2]
GeneID80303.
KEGGhsa:80303.
UCSCuc002vtc.3. human. [Q9BUP0-1]

Organism-specific databases

CTD80303.
GeneCardsGC02P233470.
HGNCHGNC:29556. EFHD1.
HPAHPA049331.
HPA056959.
MIM611617. gene.
neXtProtNX_Q9BUP0.
PharmGKBPA134935372.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259396.
HOVERGENHBG051446.
InParanoidQ9BUP0.
OMARRQDINA.
OrthoDBEOG7H1JNV.
PhylomeDBQ9BUP0.
TreeFamTF320736.

Gene expression databases

ArrayExpressQ9BUP0.
BgeeQ9BUP0.
CleanExHS_EFHD1.
GenevestigatorQ9BUP0.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PfamPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTSM00054. EFh. 2 hits.
[Graphical view]
PROSITEPS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEFHD1. human.
GenomeRNAi80303.
NextBio70764.
PROQ9BUP0.
SOURCESearch...

Entry information

Entry nameEFHD1_HUMAN
AccessionPrimary (citable) accession number: Q9BUP0
Secondary accession number(s): B2RD83 expand/collapse secondary AC list , E9PFH3, Q9BTF8, Q9H8I2, Q9HBQ0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM