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Protein

Long-chain-fatty-acid--CoA ligase ACSBG2

Gene

ACSBG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei496ATPBy similarity1
Binding sitei624ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi230 – 238ATPBy similarity9
Nucleotide bindingi418 – 423ATPBy similarity6

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Ligase
Biological processDifferentiation, Fatty acid metabolism, Lipid metabolism, Spermatogenesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS05377-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
6.2.1.3 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001212

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Long-chain-fatty-acid--CoA ligase ACSBG2 (EC:6.2.1.3)
Alternative name(s):
Acyl-CoA synthetase bubblegum family member 2
Bubblegum-related protein
PRTD-NY3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACSBG2
Synonyms:BGR
ORF Names:UNQ2443/PRO5005
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130377.13

Human Gene Nomenclature Database

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HGNCi
HGNC:24174 ACSBG2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614363 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5FVE4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi511H → R: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
81616

Open Targets

More...
OpenTargetsi
ENSG00000130377

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672649

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACSBG2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434386

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003158121 – 666Long-chain-fatty-acid--CoA ligase ACSBG2Add BLAST666

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5FVE4

PeptideAtlas

More...
PeptideAtlasi
Q5FVE4

PRoteomics IDEntifications database

More...
PRIDEi
Q5FVE4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62803
62804 [Q5FVE4-2]
62805 [Q5FVE4-3]
62806 [Q5FVE4-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5FVE4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5FVE4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Testis-specific.3 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Weakly or not expressed in fetal testis. Highly expressed in adult testis and moderately in elderly testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000130377 Expressed in 88 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_ACSBG2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5FVE4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5FVE4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043421
HPA051013

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123551, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000252669

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q5FVE4

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1256 Eukaryota
COG1022 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155332

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054660

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5FVE4

KEGG Orthology (KO)

More...
KOi
K15013

Identification of Orthologs from Complete Genome Data

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OMAi
NQYYEAC

Database of Orthologous Groups

More...
OrthoDBi
EOG091G03FO

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5FVE4

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00501 AMP-binding, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00455 AMP_BINDING, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5FVE4-1) [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
MTGTPKTQEG AKDLEVDMNK TEVTPRLWTT CRDGEVLLRL SKHGPGHETP
60 70 80 90 100
MTIPEFFRES VNRFGTYPAL ASKNGKKWEI LNFNQYYEAC RKAAKSLIKL
110 120 130 140 150
GLERFHGVGI LGFNSAEWFI TAVGAILAGG LCVGIYATNS AEVCQYVITH
160 170 180 190 200
AKVNILLVEN DQQLQKILSI PQSSLEPLKA IIQYRLPMKK NNNLYSWDDF
210 220 230 240 250
MELGRSIPDT QLEQVIESQK ANQCAVLIYT SGTTGIPKGV MLSHDNITWI
260 270 280 290 300
AGAVTKDFKL TDKHETVVSY LPLSHIAAQM MDIWVPIKIG ALTYFAQADA
310 320 330 340 350
LKGTLVSTLK EVKPTVFIGV PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR
360 370 380 390 400
NIGFKVNSKK MLGKYNTPVS YRMAKTLVFS KVKTSLGLDH CHSFISGTAP
410 420 430 440 450
LNQETAEFFL SLDIPIGELY GLSESSGPHT ISNQNNYRLL SCGKILTGCK
460 470 480 490 500
NMLFQQNKDG IGEICLWGRH IFMGYLESET ETTEAIDDEG WLHSGDLGQL
510 520 530 540 550
DGLGFLYVTG HIKEILITAG GENVPPIPVE TLVKKKIPII SNAMLVGDKL
560 570 580 590 600
KFLSMLLTLK CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS TVTEIVKQQD
610 620 630 640 650
PLVYKAIQQG INAVNQEAMN NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR
660
HFVAQKYKKQ IDHMYH
Length:666
Mass (Da):74,354
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4EE300654EF17150
GO
Isoform 2 (identifier: Q5FVE4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Note: No experimental confirmation available.
Show »
Length:616
Mass (Da):68,810
Checksum:i5ECC35717120E1DF
GO
Isoform 3 (identifier: Q5FVE4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.

Note: No experimental confirmation available.
Show »
Length:479
Mass (Da):53,548
Checksum:i4E2AC26B3F0CC208
GO
Isoform 4 (identifier: Q5FVE4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-200: Missing.

Note: No experimental confirmation available.
Show »
Length:466
Mass (Da):51,891
Checksum:iDAB7590871FD19F4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EL11K7EL11_HUMAN
Long-chain-fatty-acid--CoA ligase A...
ACSBG2
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EKE4K7EKE4_HUMAN
Long-chain-fatty-acid--CoA ligase A...
ACSBG2
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ERT0K7ERT0_HUMAN
Long-chain-fatty-acid--CoA ligase A...
ACSBG2
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ESF1K7ESF1_HUMAN
Long-chain-fatty-acid--CoA ligase A...
ACSBG2
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ESC8K7ESC8_HUMAN
Long-chain-fatty-acid--CoA ligase A...
ACSBG2
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EMB4K7EMB4_HUMAN
Long-chain-fatty-acid--CoA ligase A...
ACSBG2
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAE12157 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti71A → P in AAQ89126 (PubMed:12975309).Curated1
Sequence conflicti332K → E in AAG49398 (PubMed:15685348).Curated1
Sequence conflicti595I → M in CAE12156 (PubMed:16762313).Curated1
Sequence conflicti595I → M in CAE12157 (PubMed:16762313).Curated1
Sequence conflicti595I → M in CAB66788 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_038317143V → A5 PublicationsCorresponds to variant dbSNP:rs4807840Ensembl.1
Natural variantiVAR_038318152K → R. Corresponds to variant dbSNP:rs33937754Ensembl.1
Natural variantiVAR_038319584G → D1 PublicationCorresponds to variant dbSNP:rs17851959Ensembl.1
Natural variantiVAR_038320586G → D1 PublicationCorresponds to variant dbSNP:rs17851960Ensembl.1
Natural variantiVAR_038321601P → R. Corresponds to variant dbSNP:rs35609668Ensembl.1
Natural variantiVAR_038322624R → K1 PublicationCorresponds to variant dbSNP:rs17856650Ensembl.1
Natural variantiVAR_038323626E → Q1 PublicationCorresponds to variant dbSNP:rs17856651Ensembl.1
Natural variantiVAR_038324650R → S. Corresponds to variant dbSNP:rs35605352Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0307171 – 200Missing in isoform 4. 1 PublicationAdd BLAST200
Alternative sequenceiVSP_0307181 – 187Missing in isoform 3. 1 PublicationAdd BLAST187
Alternative sequenceiVSP_0307191 – 50Missing in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY009107 mRNA Translation: AAG49398.1
AJ577571 mRNA Translation: CAE12156.1
AJ577571 mRNA Translation: CAE12157.1 Different initiation.
AL136854 mRNA Translation: CAB66788.1
AY358766 mRNA Translation: AAQ89126.1
AK057412 mRNA Translation: BAB71476.1
AK093433 mRNA Translation: BAG52714.1
CH471139 Genomic DNA Translation: EAW69111.1
BC022027 mRNA Translation: AAH22027.1
BC090046 mRNA Translation: AAH90046.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12159.1 [Q5FVE4-1]
CCDS74269.1 [Q5FVE4-3]
CCDS82282.1 [Q5FVE4-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001276106.1, NM_001289177.1 [Q5FVE4-1]
NP_001276107.1, NM_001289178.1 [Q5FVE4-1]
NP_001276108.1, NM_001289179.1
NP_001276109.1, NM_001289180.1 [Q5FVE4-3]
NP_001308313.1, NM_001321384.1 [Q5FVE4-2]
NP_112186.3, NM_030924.4 [Q5FVE4-1]
XP_016882821.1, XM_017027332.1 [Q5FVE4-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.465720

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000586696; ENSP00000465589; ENSG00000130377 [Q5FVE4-1]
ENST00000588304; ENSP00000464938; ENSG00000130377 [Q5FVE4-2]
ENST00000588485; ENSP00000466336; ENSG00000130377 [Q5FVE4-3]
ENST00000591403; ENSP00000467755; ENSG00000130377 [Q5FVE4-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
81616

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:81616

UCSC genome browser

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UCSCi
uc002mee.3 human [Q5FVE4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY009107 mRNA Translation: AAG49398.1
AJ577571 mRNA Translation: CAE12156.1
AJ577571 mRNA Translation: CAE12157.1 Different initiation.
AL136854 mRNA Translation: CAB66788.1
AY358766 mRNA Translation: AAQ89126.1
AK057412 mRNA Translation: BAB71476.1
AK093433 mRNA Translation: BAG52714.1
CH471139 Genomic DNA Translation: EAW69111.1
BC022027 mRNA Translation: AAH22027.1
BC090046 mRNA Translation: AAH90046.1
CCDSiCCDS12159.1 [Q5FVE4-1]
CCDS74269.1 [Q5FVE4-3]
CCDS82282.1 [Q5FVE4-2]
RefSeqiNP_001276106.1, NM_001289177.1 [Q5FVE4-1]
NP_001276107.1, NM_001289178.1 [Q5FVE4-1]
NP_001276108.1, NM_001289179.1
NP_001276109.1, NM_001289180.1 [Q5FVE4-3]
NP_001308313.1, NM_001321384.1 [Q5FVE4-2]
NP_112186.3, NM_030924.4 [Q5FVE4-1]
XP_016882821.1, XM_017027332.1 [Q5FVE4-1]
UniGeneiHs.465720

3D structure databases

ProteinModelPortaliQ5FVE4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123551, 3 interactors
STRINGi9606.ENSP00000252669

Chemistry databases

SwissLipidsiSLP:000001212

PTM databases

iPTMnetiQ5FVE4
PhosphoSitePlusiQ5FVE4

Polymorphism and mutation databases

BioMutaiACSBG2
DMDMi296434386

Proteomic databases

PaxDbiQ5FVE4
PeptideAtlasiQ5FVE4
PRIDEiQ5FVE4
ProteomicsDBi62803
62804 [Q5FVE4-2]
62805 [Q5FVE4-3]
62806 [Q5FVE4-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
81616
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000586696; ENSP00000465589; ENSG00000130377 [Q5FVE4-1]
ENST00000588304; ENSP00000464938; ENSG00000130377 [Q5FVE4-2]
ENST00000588485; ENSP00000466336; ENSG00000130377 [Q5FVE4-3]
ENST00000591403; ENSP00000467755; ENSG00000130377 [Q5FVE4-1]
GeneIDi81616
KEGGihsa:81616
UCSCiuc002mee.3 human [Q5FVE4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
81616
DisGeNETi81616
EuPathDBiHostDB:ENSG00000130377.13

GeneCards: human genes, protein and diseases

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GeneCardsi
ACSBG2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0014690
HIX0014691
HGNCiHGNC:24174 ACSBG2
HPAiHPA043421
HPA051013
MIMi614363 gene
neXtProtiNX_Q5FVE4
OpenTargetsiENSG00000130377
PharmGKBiPA142672649

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1256 Eukaryota
COG1022 LUCA
GeneTreeiENSGT00940000155332
HOVERGENiHBG054660
InParanoidiQ5FVE4
KOiK15013
OMAiNQYYEAC
OrthoDBiEOG091G03FO
PhylomeDBiQ5FVE4

Enzyme and pathway databases

BioCyciMetaCyc:HS05377-MONOMER
BRENDAi6.2.1.3 2681
ReactomeiR-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ACSBG2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACSBG2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
81616

Protein Ontology

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PROi
PR:Q5FVE4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130377 Expressed in 88 organ(s), highest expression level in testis
CleanExiHS_ACSBG2
ExpressionAtlasiQ5FVE4 baseline and differential
GenevisibleiQ5FVE4 HS

Family and domain databases

InterProiView protein in InterPro
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig
PfamiView protein in Pfam
PF00501 AMP-binding, 1 hit
PROSITEiView protein in PROSITE
PS00455 AMP_BINDING, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACBG2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5FVE4
Secondary accession number(s): B3KSF2
, Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: December 5, 2018
This is version 113 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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