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Q9HA90 (EFCC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 74. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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 and coiled-coil domain-containing protein 1
Alternative name(s):
Coiled-coil domain-containing protein 48
Gene names
Name:EFCC1
Synonyms:C3orf73, CCDC48
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length598 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 EF-hand domain.

Caution

It is uncertain whether Met-1 or Met-12 is the initiator.

Sequence caution

The sequence AAH93800.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAI12196.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   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: Q9HA90-1)

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: Q9HA90-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-437: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 598598EF-hand and coiled-coil domain-containing protein 1
PRO_0000234510

Regions

Domain54 – 8936EF-hand
Coiled coil196 – 303108 Potential
Coiled coil479 – 53355 Potential
Compositional bias175 – 18410Poly-Arg
Compositional bias582 – 5898Poly-Ala

Natural variations

Alternative sequence1 – 437437Missing in isoform 2.
VSP_039449
Natural variant5281R → Q.
Corresponds to variant rs3732430 [ dbSNP | Ensembl ].
VAR_050753

Sequences

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

Last modified July 13, 2010. Version 2.
Checksum: 414C1E0FF5F47EA0

FASTA59865,701
        10         20         30         40         50         60 
MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV LATGLDQYLQ 

        70         80         90        100        110        120 
EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA GDGNSRDVTP GDAAAELATD 

       130        140        150        160        170        180 
GDSDTDEEAR LALRAEPPEL TFRQFHARLC GYFGTRAGPR LPRGALSEHI ETQIRLRRPR 

       190        200        210        220        230        240 
RRRRPPCAPG PDSGPDCERV ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA 

       250        260        270        280        290        300 
STHEMGHGGP EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR 

       310        320        330        340        350        360 
ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP EDAGTRDPDP 

       370        380        390        400        410        420 
TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE EERWQEEKKT PAAEAKTLLA 

       430        440        450        460        470        480 
RLSSCRGRCD DQTAEKLMTY FGHFGGANHA HTLGELEACI AMLVEQLRTQ GCGGRTLGTS 

       490        500        510        520        530        540 
EEEAELQQKV EENEHLRLEL QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI 

       550        560        570        580        590 
LLSTLDAFRD PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC 

« Hide

Isoform 2 [UniParc].

Checksum: 3F15DC9A94532B6B
Show »

FASTA16117,669

References

[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. 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] (ISOFORM 2).
Tissue: Embryo.
[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. expand/collapse author list , 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]"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] OF 113-276 AND 431-598 (ISOFORM 1).
Tissue: Brain and Ovary.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK022119 mRNA. Translation: BAB13964.1.
AC112484 Genomic DNA. No translation available.
BC093800 mRNA. Translation: AAH93800.1. Different initiation.
BC112195 mRNA. Translation: AAI12196.1. Different initiation.
BF058142 mRNA. No translation available.
RefSeqNP_079044.2. NM_024768.2.
UniGeneHs.134807.

3D structure databases

ProteinModelPortalQ9HA90.
SMRQ9HA90. Positions 57-120.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122918. 1 interaction.
STRING9606.ENSP00000265050.

Polymorphism databases

DMDM300669629.

Proteomic databases

PaxDbQ9HA90.
PRIDEQ9HA90.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000436022; ENSP00000414597; ENSG00000114654. [Q9HA90-2]
ENST00000480450; ENSP00000420075; ENSG00000114654. [Q9HA90-1]
GeneID79825.
KEGGhsa:79825.
UCSCuc011bkt.2. human. [Q9HA90-1]

Organism-specific databases

CTD79825.
GeneCardsGC03P128937.
HGNCHGNC:25692. EFCC1.
HPAHPA042798.
HPA050888.
neXtProtNX_Q9HA90.
PharmGKBPA142672165.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45785.
HOGENOMHOG000090223.
HOVERGENHBG078065.
InParanoidQ9HA90.
OMARCDDQTA.
OrthoDBEOG7BKCTH.
TreeFamTF330736.

Gene expression databases

BgeeQ9HA90.
CleanExHS_CCDC48.
GenevestigatorQ9HA90.

Family and domain databases

InterProIPR002048. EF_hand_dom.
[Graphical view]
PROSITEPS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79825.
NextBio69454.
PROQ9HA90.

Entry information

Entry nameEFCC1_HUMAN
AccessionPrimary (citable) accession number: Q9HA90
Secondary accession number(s): A8MYE2
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 13, 2010
Last modified: March 19, 2014
This is version 74 of the entry and version 2 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

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 3

Human chromosome 3: entries, gene names and cross-references to MIM