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Protein

EF-hand and coiled-coil domain-containing protein 1

Gene

EFCC1

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

Functioni

GO - Molecular functioni

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand and coiled-coil domain-containing protein 1
Alternative name(s):
Coiled-coil domain-containing protein 48
Gene namesi
Name:EFCC1
Synonyms:C3orf73, CCDC48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114654.7.
HGNCiHGNC:25692. EFCC1.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000114654.
PharmGKBiPA142672165.

Polymorphism and mutation databases

BioMutaiEFCC1.
DMDMi300669629.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002345101 – 598EF-hand and coiled-coil domain-containing protein 1Add BLAST598

Proteomic databases

PaxDbiQ9HA90.
PeptideAtlasiQ9HA90.
PRIDEiQ9HA90.

PTM databases

iPTMnetiQ9HA90.
PhosphoSitePlusiQ9HA90.

Expressioni

Gene expression databases

BgeeiENSG00000114654.
CleanExiHS_CCDC48.
GenevisibleiQ9HA90. HS.

Organism-specific databases

HPAiHPA042798.
HPA050888.

Interactioni

Protein-protein interaction databases

BioGridi122918. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ9HA90.
SMRiQ9HA90.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini54 – 89EF-handPROSITE-ProRule annotationAdd BLAST36

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili196 – 303Sequence analysisAdd BLAST108
Coiled coili479 – 533Sequence analysisAdd BLAST55

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi175 – 184Poly-Arg10
Compositional biasi582 – 589Poly-Ala8

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH78. Eukaryota.
ENOG410Y9W3. LUCA.
GeneTreeiENSGT00680000100042.
HOGENOMiHOG000090223.
HOVERGENiHBG078065.
InParanoidiQ9HA90.
OMAiRCDDQTA.
OrthoDBiEOG091G0484.
PhylomeDBiQ9HA90.
TreeFamiTF330736.

Family and domain databases

InterProiView protein in InterPro
IPR031601. CCD48.
IPR002048. EF_hand_dom.
PfamiView protein in Pfam
PF15799. CCD48. 1 hit.
PROSITEiView protein in PROSITE
PS50222. EF_HAND_2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9HA90-1) [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
MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV
60 70 80 90 100
LATGLDQYLQ EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA
110 120 130 140 150
GDGNSRDVTP GDAAAELATD GDSDTDEEAR LALRAEPPEL TFRQFHARLC
160 170 180 190 200
GYFGTRAGPR LPRGALSEHI ETQIRLRRPR RRRRPPCAPG PDSGPDCERV
210 220 230 240 250
ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA STHEMGHGGP
260 270 280 290 300
EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR
310 320 330 340 350
ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP
360 370 380 390 400
EDAGTRDPDP TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE
410 420 430 440 450
EERWQEEKKT PAAEAKTLLA RLSSCRGRCD DQTAEKLMTY FGHFGGANHA
460 470 480 490 500
HTLGELEACI AMLVEQLRTQ GCGGRTLGTS EEEAELQQKV EENEHLRLEL
510 520 530 540 550
QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI LLSTLDAFRD
560 570 580 590
PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC
Length:598
Mass (Da):65,701
Last modified:July 13, 2010 - v2
Checksum:i414C1E0FF5F47EA0
GO
Isoform 2 (identifier: Q9HA90-2) [UniParc]FASTAAdd to basket

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

Show »
Length:161
Mass (Da):17,669
Checksum:i3F15DC9A94532B6B
GO

Sequence cautioni

The sequence AAH93800 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI12196 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050753528R → Q. Corresponds to variant dbSNP:rs3732430Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0394491 – 437Missing in isoform 2. 1 PublicationAdd BLAST437

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS3054.2. [Q9HA90-1]
RefSeqiNP_079044.2. NM_024768.2. [Q9HA90-1]
UniGeneiHs.134807.

Genome annotation databases

EnsembliENST00000436022; ENSP00000414597; ENSG00000114654. [Q9HA90-1]
GeneIDi79825.
KEGGihsa:79825.
UCSCiuc011bkt.2. human. [Q9HA90-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEFCC1_HUMAN
AccessioniPrimary (citable) accession number: Q9HA90
Secondary accession number(s): A8MYE2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 13, 2010
Last modified: September 27, 2017
This is version 98 of the entry and version 2 of the sequence. See 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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