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Protein

EF-hand calcium-binding domain-containing protein 11

Gene

EFCAB11

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

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi140 – 151121PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
EF-hand calcium-binding domain-containing protein 11
Gene namesi
Name:EFCAB11
Synonyms:C14orf143
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20357. EFCAB11.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134875422.

Polymorphism and mutation databases

BioMutaiEFCAB11.
DMDMi74762709.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 163163EF-hand calcium-binding domain-containing protein 11PRO_0000286580Add
BLAST

Proteomic databases

MaxQBiQ9BUY7.
PaxDbiQ9BUY7.
PRIDEiQ9BUY7.

PTM databases

iPTMnetiQ9BUY7.
PhosphoSiteiQ9BUY7.

Expressioni

Gene expression databases

BgeeiQ9BUY7.
CleanExiHS_C14orf143.
ExpressionAtlasiQ9BUY7. baseline and differential.
GenevisibleiQ9BUY7. HS.

Organism-specific databases

HPAiHPA051209.
HPA054513.

Interactioni

Protein-protein interaction databases

BioGridi124670. 3 interactions.
STRINGi9606.ENSP00000326267.

Structurei

3D structure databases

ProteinModelPortaliQ9BUY7.
SMRiQ9BUY7. Positions 25-152.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 5336EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini91 – 12636EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Domaini127 – 16236EF-hand 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00390000004917.
HOGENOMiHOG000007716.
HOVERGENiHBG106107.
InParanoidiQ9BUY7.
OMAiFKQVAPK.
OrthoDBiEOG74BJTK.
PhylomeDBiQ9BUY7.
TreeFamiTF329255.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
PF13833. EF-hand_8. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BUY7-1) [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
MFFSEARARS RTWEASPSEH RKWVEVFKAC DEDHKGYLSR EDFKTAVVML
60 70 80 90 100
FGYKPSKIEV DSVMSSINPN TSGILLEGFL NIVRKKKEAQ RYRNEVRHIF
110 120 130 140 150
TAFDTYYRGF LTLEDFKKAF RQVAPKLPER TVLEVFREVD RDSDGHVSFR
160
DFEYALNYGQ KEA
Length:163
Mass (Da):19,225
Last modified:June 1, 2001 - v1
Checksum:i0939E2C3637707C2
GO
Isoform 2 (identifier: Q9BUY7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MFFSEARARSRTWEASPSEHRKWVE → M

Show »
Length:139
Mass (Da):16,293
Checksum:i64409983F8203C5C
GO
Isoform 3 (identifier: Q9BUY7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MFFSEARARSRTWEASPSEHRKWVE → M
     138-163: EVDRDSDGHVSFRDFEYALNYGQKEA → GIFSA

Show »
Length:118
Mass (Da):13,738
Checksum:i57DC52C7AF59755E
GO
Isoform 4 (identifier: Q9BUY7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-61: IEVD → KWIL
     62-163: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:61
Mass (Da):7,314
Checksum:i1FEE78F6847D687C
GO
Isoform 5 (identifier: Q9BUY7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     138-162: EVDRDSDGHVSFRDFEYALNYGQKE → GIFS

Note: No experimental confirmation available.
Show »
Length:142
Mass (Da):16,670
Checksum:iF5C8B3BC5BACAF96
GO
Isoform 6 (identifier: Q9BUY7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.

Note: Gene prediction based on EST data.
Show »
Length:115
Mass (Da):13,521
Checksum:i0B6B6CF1041319F1
GO

Sequence cautioni

The sequence CAD62325.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151A → V.
Corresponds to variant rs35435801 [ dbSNP | Ensembl ].
VAR_032129
Natural varianti31 – 311D → G.
Corresponds to variant rs34486581 [ dbSNP | Ensembl ].
VAR_032130
Natural varianti45 – 451T → A.
Corresponds to variant rs34911716 [ dbSNP | Ensembl ].
VAR_032131

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4848Missing in isoform 6. CuratedVSP_055729Add
BLAST
Alternative sequencei1 – 2525MFFSE…RKWVE → M in isoform 2 and isoform 3. 2 PublicationsVSP_025100Add
BLAST
Alternative sequencei58 – 614IEVD → KWIL in isoform 4. 1 PublicationVSP_041089
Alternative sequencei62 – 163102Missing in isoform 4. 1 PublicationVSP_041090Add
BLAST
Alternative sequencei138 – 16326EVDRD…GQKEA → GIFSA in isoform 3. 1 PublicationVSP_025101Add
BLAST
Alternative sequencei138 – 16225EVDRD…YGQKE → GIFS in isoform 5. 1 PublicationVSP_054591Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX161414 mRNA. Translation: CAD61889.1.
BX247991 mRNA. Translation: CAD62325.1. Sequence problems.
AK094740 mRNA. Translation: BAG52922.1.
AK298930 mRNA. Translation: BAH12905.1.
AL832321 mRNA. Translation: CAD38616.1.
AL137128 Genomic DNA. No translation available.
AL137230 Genomic DNA. No translation available.
AL163011 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81411.1.
BC001787 mRNA. Translation: AAH01787.1.
CCDSiCCDS61522.1. [Q9BUY7-6]
CCDS61523.1. [Q9BUY7-2]
CCDS61524.1. [Q9BUY7-3]
CCDS61525.1. [Q9BUY7-5]
CCDS9887.1. [Q9BUY7-1]
RefSeqiNP_001271195.1. NM_001284266.1. [Q9BUY7-5]
NP_001271196.1. NM_001284267.1. [Q9BUY7-6]
NP_001271197.1. NM_001284268.1. [Q9BUY7-3]
NP_001271198.1. NM_001284269.1. [Q9BUY7-2]
NP_660274.1. NM_145231.3. [Q9BUY7-1]
UniGeneiHs.123232.

Genome annotation databases

EnsembliENST00000316738; ENSP00000326267; ENSG00000140025. [Q9BUY7-1]
ENST00000538485; ENSP00000438072; ENSG00000140025. [Q9BUY7-5]
ENST00000555872; ENSP00000452320; ENSG00000140025. [Q9BUY7-2]
ENST00000556005; ENSP00000452143; ENSG00000140025. [Q9BUY7-3]
ENST00000556609; ENSP00000452335; ENSG00000140025. [Q9BUY7-6]
ENST00000556639; ENSP00000452397; ENSG00000140025. [Q9BUY7-4]
GeneIDi90141.
KEGGihsa:90141.
UCSCiuc001xxs.5. human. [Q9BUY7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX161414 mRNA. Translation: CAD61889.1.
BX247991 mRNA. Translation: CAD62325.1. Sequence problems.
AK094740 mRNA. Translation: BAG52922.1.
AK298930 mRNA. Translation: BAH12905.1.
AL832321 mRNA. Translation: CAD38616.1.
AL137128 Genomic DNA. No translation available.
AL137230 Genomic DNA. No translation available.
AL163011 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81411.1.
BC001787 mRNA. Translation: AAH01787.1.
CCDSiCCDS61522.1. [Q9BUY7-6]
CCDS61523.1. [Q9BUY7-2]
CCDS61524.1. [Q9BUY7-3]
CCDS61525.1. [Q9BUY7-5]
CCDS9887.1. [Q9BUY7-1]
RefSeqiNP_001271195.1. NM_001284266.1. [Q9BUY7-5]
NP_001271196.1. NM_001284267.1. [Q9BUY7-6]
NP_001271197.1. NM_001284268.1. [Q9BUY7-3]
NP_001271198.1. NM_001284269.1. [Q9BUY7-2]
NP_660274.1. NM_145231.3. [Q9BUY7-1]
UniGeneiHs.123232.

3D structure databases

ProteinModelPortaliQ9BUY7.
SMRiQ9BUY7. Positions 25-152.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124670. 3 interactions.
STRINGi9606.ENSP00000326267.

PTM databases

iPTMnetiQ9BUY7.
PhosphoSiteiQ9BUY7.

Polymorphism and mutation databases

BioMutaiEFCAB11.
DMDMi74762709.

Proteomic databases

MaxQBiQ9BUY7.
PaxDbiQ9BUY7.
PRIDEiQ9BUY7.

Protocols and materials databases

DNASUi90141.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316738; ENSP00000326267; ENSG00000140025. [Q9BUY7-1]
ENST00000538485; ENSP00000438072; ENSG00000140025. [Q9BUY7-5]
ENST00000555872; ENSP00000452320; ENSG00000140025. [Q9BUY7-2]
ENST00000556005; ENSP00000452143; ENSG00000140025. [Q9BUY7-3]
ENST00000556609; ENSP00000452335; ENSG00000140025. [Q9BUY7-6]
ENST00000556639; ENSP00000452397; ENSG00000140025. [Q9BUY7-4]
GeneIDi90141.
KEGGihsa:90141.
UCSCiuc001xxs.5. human. [Q9BUY7-1]

Organism-specific databases

CTDi90141.
GeneCardsiEFCAB11.
H-InvDBHIX0011878.
HGNCiHGNC:20357. EFCAB11.
HPAiHPA051209.
HPA054513.
neXtProtiNX_Q9BUY7.
PharmGKBiPA134875422.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0027. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00390000004917.
HOGENOMiHOG000007716.
HOVERGENiHBG106107.
InParanoidiQ9BUY7.
OMAiFKQVAPK.
OrthoDBiEOG74BJTK.
PhylomeDBiQ9BUY7.
TreeFamiTF329255.

Miscellaneous databases

ChiTaRSiEFCAB11. human.
GenomeRNAii90141.
PROiQ9BUY7.

Gene expression databases

BgeeiQ9BUY7.
CleanExiHS_C14orf143.
ExpressionAtlasiQ9BUY7. baseline and differential.
GenevisibleiQ9BUY7. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
PF13833. EF-hand_8. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
    Tissue: B-cell and Neuroblastoma.
  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 5).
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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).
    Tissue: Eye.

Entry informationi

Entry nameiEFC11_HUMAN
AccessioniPrimary (citable) accession number: Q9BUY7
Secondary accession number(s): B3KT10
, B7Z5G9, G3V5G1, Q86T09, Q86TV7, Q8NDQ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: June 1, 2001
Last modified: June 8, 2016
This is version 117 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 14
    Human chromosome 14: 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. SIMILARITY comments
    Index of protein domains and families

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 one 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.