Q9BUP0 (EFHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	239 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	Calcium Metal-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	neuron projection development Inferred from electronic annotation. Source: Compara
Cellular_component	mitochondrial inner membrane Inferred from electronic annotation. Source: Compara
Molecular_function	calcium 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 239	239	EF-hand domain-containing protein D1		PRO_0000073643
Regions
	Domain	90 – 125	36	EF-hand 1
	Domain	126 – 161	36	EF-hand 2
	Calcium binding	103 – 114	12	1 Potential
	Calcium binding	139 – 150	12	2 Potential
Natural variations
	Alternative sequence	1 – 101	101	MASEE…SMFKL → MGELQ in isoform 2.		VSP_045541
	Natural variant	186	1	K → R. Ref.2 Ref.4 Corresponds to variant rs11550699 [ dbSNP | Ensembl ].		VAR_047966

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 1712F79E2A3CC007	FASTA	239	26,928
	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
	Isoform 2 [UniParc]. Checksum: AF28A675916BE056	FASTA	143	16,145
	10 20 30 40 50 60 MGELQYDAGR DGFIDLMELK LMMEKLGAPQ THLGLKSMIK EVDEDFDGKL SFREFLLIFH 70 80 90 100 110 120 KAAAGELQED SGLMALAKLS EIDVALEGVK GAKNFFEAKV QALSSASKFE AELKAEQDER 130 140 KREEEERRLR QAAFQKLKAN FNT

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. , 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.
+	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.
IPI	IPI00031091. IPI00916914.
RefSeq	NP_001230181.1. NM_001243252.1. NP_079478.1. NM_025202.3.
UniGene	Hs.516769. Hs.744624.
3D structure databases
ProteinModelPortal	Q9BUP0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BUP0. 1 interaction.
STRING	9606.ENSP00000264059.
PTM databases
PhosphoSite	Q9BUP0.
Polymorphism databases
DMDM	20140222.
Proteomic databases
PaxDb	Q9BUP0.
PeptideAtlas	Q9BUP0.
PRIDE	Q9BUP0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264059; ENSP00000264059; ENSG00000115468. ENST00000409613; ENSP00000386556; ENSG00000115468.
GeneID	80303.
KEGG	hsa:80303.
UCSC	uc002vtc.3. human. uc010fyf.3. human.
Organism-specific databases
CTD	80303.
GeneCards	GC02P233470.
HGNC	HGNC:29556. EFHD1.
MIM	611617. gene.
neXtProt	NX_Q9BUP0.
PharmGKB	PA134935372.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG259396.
HOVERGEN	HBG051446.
InParanoid	Q9BUP0.
OMA	FQQRAAV.
OrthoDB	EOG4THVVM.
PhylomeDB	Q9BUP0.
Gene expression databases
ArrayExpress	Q9BUP0.
Bgee	Q9BUP0.
CleanEx	HS_EFHD1.
Genevestigator	Q9BUP0.
Family and domain databases
Gene3D	1.10.238.10. 1 hit.
InterPro	IPR011992. EF-hand-like_dom. IPR002048. EF_hand_dom. [Graphical view]
Pfam	PF13499. EF_hand_5. 1 hit. [Graphical view]
SMART	SM00054. EFh. 2 hits. [Graphical view]
PROSITE	PS00018. EF_HAND_1. False negative. PS50222. EF_HAND_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	EFHD1. human.
GenomeRNAi	80303.
NextBio	70764.
SOURCE	Search...

Entry information

Entry name

EFHD1_HUMAN

Accession

Primary (citable) accession number: Q9BUP0
Secondary accession number(s): B2RD83 , E9PFH3, Q9BTF8, Q9H8I2, Q9HBQ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	June 1, 2001
Last modified:	May 29, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.