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Protein

EF-hand calcium-binding domain-containing protein 11

Gene

EFCAB11

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

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi140 – 1511PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

Keywordsi

LigandCalcium, 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

EuPathDBiHostDB:ENSG00000140025.15
HGNCiHGNC:20357 EFCAB11
neXtProtiNX_Q9BUY7

Pathology & Biotechi

Organism-specific databases

DisGeNETi90141
OpenTargetsiENSG00000140025
PharmGKBiPA134875422

Polymorphism and mutation databases

BioMutaiEFCAB11
DMDMi74762709

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002865801 – 163EF-hand calcium-binding domain-containing protein 11Add BLAST163

Proteomic databases

MaxQBiQ9BUY7
PaxDbiQ9BUY7
PeptideAtlasiQ9BUY7
PRIDEiQ9BUY7
ProteomicsDBi79144
79145 [Q9BUY7-2]
79146 [Q9BUY7-3]
79147 [Q9BUY7-4]

PTM databases

iPTMnetiQ9BUY7
PhosphoSitePlusiQ9BUY7

Expressioni

Gene expression databases

BgeeiENSG00000140025
CleanExiHS_C14orf143
ExpressionAtlasiQ9BUY7 baseline and differential
GenevisibleiQ9BUY7 HS

Organism-specific databases

HPAiHPA051209

Interactioni

Protein-protein interaction databases

BioGridi124670, 10 interactors
IntActiQ9BUY7, 2 interactors
STRINGi9606.ENSP00000326267

Structurei

3D structure databases

ProteinModelPortaliQ9BUY7
SMRiQ9BUY7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 53EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini91 – 126EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini127 – 162EF-hand 3PROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0027 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00390000004917
HOGENOMiHOG000007716
HOVERGENiHBG106107
InParanoidiQ9BUY7
OMAiFKQVAPK
OrthoDBiEOG091G0S7R
PhylomeDBiQ9BUY7
TreeFamiTF329255

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
PF13833 EF-hand_8, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 3 hits

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 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03212915A → V. Corresponds to variant dbSNP:rs35435801Ensembl.1
Natural variantiVAR_03213031D → G. Corresponds to variant dbSNP:rs34486581Ensembl.1
Natural variantiVAR_03213145T → A. Corresponds to variant dbSNP:rs34911716Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0557291 – 48Missing in isoform 6. CuratedAdd BLAST48
Alternative sequenceiVSP_0251001 – 25MFFSE…RKWVE → M in isoform 2 and isoform 3. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_04108958 – 61IEVD → KWIL in isoform 4. 1 Publication4
Alternative sequenceiVSP_04109062 – 163Missing in isoform 4. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_025101138 – 163EVDRD…GQKEA → GIFSA in isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_054591138 – 162EVDRD…YGQKE → GIFS in isoform 5. 1 PublicationAdd BLAST25

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

Similar proteinsi

Entry informationi

Entry nameiEFC11_HUMAN
AccessioniPrimary (citable) accession number: Q9BUY7
Secondary accession number(s): B3KT10
, B7Z5G9, G3V5G1, Q86T09, Q86TV7, Q8NDQ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 130 of the entry and version 1 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

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

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