Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

EF-hand domain-containing protein D1

Gene

EFHD1

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

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi103 – 114121PROSITE-ProRule annotationAdd
BLAST
Calcium bindingi139 – 150122PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand domain-containing protein D1
Alternative name(s):
EF-hand domain-containing protein 1
Swiprosin-2
Gene namesi
Name:EFHD1
Synonyms:SWS2
ORF Names:PP3051
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29556. EFHD1.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • mitochondrial inner membrane Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134935372.

Polymorphism and mutation databases

BioMutaiEFHD1.
DMDMi20140222.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 239239EF-hand domain-containing protein D1PRO_0000073643Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei201 – 2011Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BUP0.
PaxDbiQ9BUP0.
PeptideAtlasiQ9BUP0.
PRIDEiQ9BUP0.

PTM databases

PhosphoSiteiQ9BUP0.

Expressioni

Gene expression databases

BgeeiQ9BUP0.
CleanExiHS_EFHD1.
ExpressionAtlasiQ9BUP0. baseline and differential.
GenevisibleiQ9BUP0. HS.

Organism-specific databases

HPAiHPA049331.
HPA056959.

Interactioni

Protein-protein interaction databases

BioGridi123216. 9 interactions.
IntActiQ9BUP0. 1 interaction.
STRINGi9606.ENSP00000264059.

Structurei

3D structure databases

ProteinModelPortaliQ9BUP0.
SMRiQ9BUP0. Positions 66-193.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini90 – 12536EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini126 – 16136EF-hand 2PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG259396.
GeneTreeiENSGT00390000012058.
HOVERGENiHBG051446.
InParanoidiQ9BUP0.
OMAiRRQDINA.
OrthoDBiEOG7H1JNV.
PhylomeDBiQ9BUP0.
TreeFamiTF320736.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
PROSITEiPS50222. EF_HAND_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BUP0-1) [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
MASEELACKL ERRLRREEAE ESGPQLAPLG APAPEPKPEP EPPARAPTAS
60 70 80 90 100
ADAELSAQLS RRLDINEGAA RPRRCRVFNP YTEFPEFSRR LIKDLESMFK
110 120 130 140 150
LYDAGRDGFI DLMELKLMME KLGAPQTHLG LKSMIKEVDE DFDGKLSFRE
160 170 180 190 200
FLLIFHKAAA GELQEDSGLM ALAKLSEIDV ALEGVKGAKN FFEAKVQALS
210 220 230
SASKFEAELK AEQDERKREE EERRLRQAAF QKLKANFNT
Length:239
Mass (Da):26,928
Last modified:June 1, 2001 - v1
Checksum:i1712F79E2A3CC007
GO
Isoform 2 (identifier: Q9BUP0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: MASEELACKL...IKDLESMFKL → MGELQ

Note: No experimental confirmation available.
Show »
Length:143
Mass (Da):16,145
Checksum:iAF28A675916BE056
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861K → R.2 Publications
Corresponds to variant rs11550699 [ dbSNP | Ensembl ].
VAR_047966

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 101101MASEE…SMFKL → MGELQ in isoform 2. 1 PublicationVSP_045541Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2497.1. [Q9BUP0-1]
CCDS58755.1. [Q9BUP0-2]
RefSeqiNP_001230181.1. NM_001243252.1. [Q9BUP0-2]
NP_079478.1. NM_025202.3. [Q9BUP0-1]
UniGeneiHs.516769.
Hs.744624.

Genome annotation databases

EnsembliENST00000264059; ENSP00000264059; ENSG00000115468. [Q9BUP0-1]
ENST00000409613; ENSP00000386556; ENSG00000115468. [Q9BUP0-2]
GeneIDi80303.
KEGGihsa:80303.
UCSCiuc002vtc.3. human. [Q9BUP0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2497.1. [Q9BUP0-1]
CCDS58755.1. [Q9BUP0-2]
RefSeqiNP_001230181.1. NM_001243252.1. [Q9BUP0-2]
NP_079478.1. NM_025202.3. [Q9BUP0-1]
UniGeneiHs.516769.
Hs.744624.

3D structure databases

ProteinModelPortaliQ9BUP0.
SMRiQ9BUP0. Positions 66-193.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123216. 9 interactions.
IntActiQ9BUP0. 1 interaction.
STRINGi9606.ENSP00000264059.

PTM databases

PhosphoSiteiQ9BUP0.

Polymorphism and mutation databases

BioMutaiEFHD1.
DMDMi20140222.

Proteomic databases

MaxQBiQ9BUP0.
PaxDbiQ9BUP0.
PeptideAtlasiQ9BUP0.
PRIDEiQ9BUP0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264059; ENSP00000264059; ENSG00000115468. [Q9BUP0-1]
ENST00000409613; ENSP00000386556; ENSG00000115468. [Q9BUP0-2]
GeneIDi80303.
KEGGihsa:80303.
UCSCiuc002vtc.3. human. [Q9BUP0-1]

Organism-specific databases

CTDi80303.
GeneCardsiGC02P233470.
HGNCiHGNC:29556. EFHD1.
HPAiHPA049331.
HPA056959.
MIMi611617. gene.
neXtProtiNX_Q9BUP0.
PharmGKBiPA134935372.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG259396.
GeneTreeiENSGT00390000012058.
HOVERGENiHBG051446.
InParanoidiQ9BUP0.
OMAiRRQDINA.
OrthoDBiEOG7H1JNV.
PhylomeDBiQ9BUP0.
TreeFamiTF320736.

Miscellaneous databases

ChiTaRSiEFHD1. human.
GenomeRNAii80303.
NextBioi70764.
PROiQ9BUP0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BUP0.
CleanExiHS_EFHD1.
ExpressionAtlasiQ9BUP0. baseline and differential.
GenevisibleiQ9BUP0. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
PROSITEiPS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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.
    , 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.
    , 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.
    , 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.
  5. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-201, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiEFHD1_HUMAN
AccessioniPrimary (citable) accession number: Q9BUP0
Secondary accession number(s): B2RD83
, E9PFH3, Q9BTF8, Q9H8I2, Q9HBQ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: June 1, 2001
Last modified: June 24, 2015
This is version 120 of the entry and version 1 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 2
    Human chromosome 2: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.