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ELP4
HPA
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  • ELP4
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

ELP4
Synonyms C11orf19, PAXNEB
Gene descriptioni

Full gene name according to HGNC.

Elongator acetyltransferase complex subunit 4
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 11
Cytoband p13
Chromosome location (bp) 31509755 - 31790324
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

17
Ensembl ENSG00000109911 (version 109)
Entrez gene 26610
HGNC HGNC:1171
UniProt Q96EB1 (UniProt - Evidence at protein level)
neXtProt NX_Q96EB1
GeneCards ELP4
Antibodypedia ELP4 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) 1. The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs 2.... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

tRNA processing
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ELP4-201
ENSP00000298937
ENST00000350638
A0A1X7SBS0
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
425 aa
46.7 kDa
No 0
ELP4-202
ENSP00000368461
ENST00000379163
Q96EB1
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000993 [RNA polymerase II complex binding]
GO:0002098 [tRNA wobble uridine modification]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006368 [transcription elongation by RNA polymerase II promoter]
GO:0006417 [regulation of translation]
GO:0008023 [transcription elongation factor complex]
GO:0008033 [tRNA processing]
GO:0008607 [phosphorylase kinase regulator activity]
GO:0033588 [elongator holoenzyme complex]
Show all
476 aa
52.8 kDa
No 0
ELP4-203
ENSP00000379267
ENST00000395934
G5E9D4
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
535 aa
58.8 kDa
No 0
ELP4-205
ENSP00000491155
ENST00000638184
A0A1W2PP47
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
359 aa
39.4 kDa
No 0
ELP4-206
ENSP00000491924
ENST00000638317
A0A1W2PQW5
[Direct mapping] Elongator complex protein 4
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
71 aa
8 kDa
No 0
ELP4-207
ENSP00000492567
ENST00000638347
A0A1W2PRF0
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
395 aa
43.8 kDa
No 0
ELP4-210
ENSP00000491641
ENST00000638482
A0A1W2PPP6
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
424 aa
47.5 kDa
No 0
ELP4-212
ENSP00000491284
ENST00000638764
A0A1W2PPR3
[Direct mapping] Elongator complex protein 4
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
101 aa
10.4 kDa
No 0
ELP4-216
ENSP00000491099
ENST00000639097
A0A1W2PNW2
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
234 aa
25.9 kDa
No 0
ELP4-217
ENSP00000491168
ENST00000639182
A0A1W2PNY4
[Direct mapping] Elongator complex protein 4
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
58 aa
6.5 kDa
No 0
ELP4-218
ENSP00000491971
ENST00000639570
A0A1W2PQZ6
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
392 aa
43.3 kDa
No 0
ELP4-219
ENSP00000491157
ENST00000639878
A0A1W2PNY5
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
386 aa
42.6 kDa
No 0
ELP4-222
ENSP00000492475
ENST00000640231
A0A1W2PRF5
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
475 aa
52.6 kDa
No 0
ELP4-223
ENSP00000492628
ENST00000640342
A0A1W2PRJ0
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
396 aa
43.9 kDa
No 0
ELP4-225
ENSP00000492770
ENST00000640533
A0A1W2PS93
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
425 aa
47.6 kDa
No 0
ELP4-228
ENSP00000492376
ENST00000640954
A0A1W2PR08
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002098 [tRNA wobble uridine modification]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0033588 [elongator holoenzyme complex]
Show all
450 aa
49.6 kDa
No 0
ELP4-229
ENSP00000492152
ENST00000640961
Q96EB1
[Direct mapping] Elongator complex protein 4
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of eye
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000993 [RNA polymerase II complex binding]
GO:0002098 [tRNA wobble uridine modification]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006368 [transcription elongation by RNA polymerase II promoter]
GO:0006417 [regulation of translation]
GO:0008023 [transcription elongation factor complex]
GO:0008033 [tRNA processing]
GO:0008607 [phosphorylase kinase regulator activity]
GO:0033588 [elongator holoenzyme complex]
Show all
424 aa
46.6 kDa
No 0

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