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Q9BUP0

- EFHD1_HUMAN

UniProt

Q9BUP0 - EFHD1_HUMAN

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Protein

EF-hand domain-containing protein D1

Gene

EFHD1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. neuron projection development Source: Ensembl
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:29556. EFHD1.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. mitochondrial inner membrane Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134935372.

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiQ9BUP0.
PaxDbiQ9BUP0.
PeptideAtlasiQ9BUP0.
PRIDEiQ9BUP0.

PTM databases

PhosphoSiteiQ9BUP0.

Expressioni

Gene expression databases

BgeeiQ9BUP0.
CleanExiHS_EFHD1.
ExpressionAtlasiQ9BUP0. baseline and differential.
GenevestigatoriQ9BUP0.

Organism-specific databases

HPAiHPA049331.
HPA056959.

Interactioni

Protein-protein interaction databases

BioGridi123216. 7 interactions.
IntActiQ9BUP0. 1 interaction.
STRINGi9606.ENSP00000264059.

Structurei

3D structure databases

ProteinModelPortaliQ9BUP0.
SMRiQ9BUP0. Positions 66-233.
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. Align

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]

Polymorphism databases

DMDMi20140222.

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 .
CCDSi CCDS2497.1. [Q9BUP0-1 ]
CCDS58755.1. [Q9BUP0-2 ]
RefSeqi NP_001230181.1. NM_001243252.1. [Q9BUP0-2 ]
NP_079478.1. NM_025202.3. [Q9BUP0-1 ]
UniGenei Hs.516769.
Hs.744624.

3D structure databases

ProteinModelPortali Q9BUP0.
SMRi Q9BUP0. Positions 66-233.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123216. 7 interactions.
IntActi Q9BUP0. 1 interaction.
STRINGi 9606.ENSP00000264059.

PTM databases

PhosphoSitei Q9BUP0.

Polymorphism databases

DMDMi 20140222.

Proteomic databases

MaxQBi Q9BUP0.
PaxDbi Q9BUP0.
PeptideAtlasi Q9BUP0.
PRIDEi Q9BUP0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264059 ; ENSP00000264059 ; ENSG00000115468 . [Q9BUP0-1 ]
ENST00000409613 ; ENSP00000386556 ; ENSG00000115468 . [Q9BUP0-2 ]
GeneIDi 80303.
KEGGi hsa:80303.
UCSCi uc002vtc.3. human. [Q9BUP0-1 ]

Organism-specific databases

CTDi 80303.
GeneCardsi GC02P233470.
HGNCi HGNC:29556. EFHD1.
HPAi HPA049331.
HPA056959.
MIMi 611617. gene.
neXtProti NX_Q9BUP0.
PharmGKBi PA134935372.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259396.
GeneTreei ENSGT00390000012058.
HOVERGENi HBG051446.
InParanoidi Q9BUP0.
OMAi RRQDINA.
OrthoDBi EOG7H1JNV.
PhylomeDBi Q9BUP0.
TreeFami TF320736.

Miscellaneous databases

ChiTaRSi EFHD1. human.
GenomeRNAii 80303.
NextBioi 70764.
PROi Q9BUP0.
SOURCEi Search...

Gene expression databases

Bgeei Q9BUP0.
CleanExi HS_EFHD1.
ExpressionAtlasi Q9BUP0. baseline and differential.
Genevestigatori Q9BUP0.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
InterProi IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view ]
Pfami PF13499. EF-hand_7. 1 hit.
[Graphical view ]
SMARTi SM00054. EFh. 2 hits.
[Graphical view ]
PROSITEi PS50222. EF_HAND_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

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.

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: October 29, 2014
This is version 115 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