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Entry version 115 (08 May 2019)
Sequence version 3 (24 Nov 2009)
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Protein

Beta-alanine-activating enzyme

Gene

AASDH

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

Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei428ATPBy similarity1
Binding sitei442ATPBy similarity1
Binding sitei527ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi198 – 206ATPBy similarity9

<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 functionLigase
Biological processFatty acid metabolism, Lipid metabolism
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.2.1.31 2681

<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:
Beta-alanine-activating enzymeBy similarity (EC:6.2.1.-)
Alternative name(s):
Acyl-CoA synthetase family member 4
Protein NRPS998
<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:AASDH
Synonyms:ACSF4, U26
ORF Names:HSPC318
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23993 AASDH

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614365 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q4L235

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
132949

Open Targets

More...
OpenTargetsi
ENSG00000157426

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162375178

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AASDH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
269849683

<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_00003158031 – 1098Beta-alanine-activating enzymeAdd BLAST1098

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei589O-(pantetheine 4'-phosphoryl)serinePROSITE-ProRule annotation1
Modified residuei649PhosphoserineCombined sources1
Modified residuei724PhosphoserineCombined sources1

Keywords - PTMi

Phosphopantetheine, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q4L235

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q4L235

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q4L235

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

More...
PaxDbi
Q4L235

PeptideAtlas

More...
PeptideAtlasi
Q4L235

PRoteomics IDEntifications database

More...
PRIDEi
Q4L235

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62225
62226 [Q4L235-2]
62227 [Q4L235-3]
62228 [Q4L235-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q4L235

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

More...
PhosphoSitePlusi
Q4L235

<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

Ubiquitously expressed in adult tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000157426 Expressed in 197 organ(s), highest expression level in kidney epithelium

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q4L235 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q4L235 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036472
HPA036473

<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
126342, 6 interactors

Protein interaction database and analysis system

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IntActi
Q4L235, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000205214

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q4L235

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini553 – 630CarrierPROSITE-ProRule annotationAdd BLAST78

<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
KOG1178 Eukaryota
KOG4649 Eukaryota
COG1520 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00440000033811

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q4L235

KEGG Orthology (KO)

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KOi
K00142

Identification of Orthologs from Complete Genome Data

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OMAi
RRCYIPE

Database of Orthologous Groups

More...
OrthoDBi
881306at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q4L235

TreeFam database of animal gene trees

More...
TreeFami
TF314245

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 2 hits
3.40.50.12780, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036736 ACP-like_sf
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig
IPR042099 AMP-dep_Synthh-like_sf
IPR009081 PP-bd_ACP
IPR025666 PQQ-like_dom
IPR018391 PQQ_beta_propeller_repeat
IPR002372 PQQ_repeat
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00501 AMP-binding, 1 hit
PF00550 PP-binding, 1 hit
PF13360 PQQ_2, 1 hit
PF13570 PQQ_3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00564 PQQ, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47336 SSF47336, 1 hit
SSF50998 SSF50998, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00455 AMP_BINDING, 1 hit
PS50075 CARRIER, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q4L235-1) [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
MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL
60 70 80 90 100
LHCDFQGIRE IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF
110 120 130 140 150
MKKCNLKYIL VEKKQINKFK SFHETLLNYD TFTVEHNDLV LFRLHWKNTE
160 170 180 190 200
VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA EEHMDLRLKH CLAYVLHTSG
210 220 230 240 250
TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL TFDPSVVEIF
260 270 280 290 300
LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL
310 320 330 340 350
IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS
360 370 380 390 400
SWATIYRIPE KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ
410 420 430 440 450
VFLGGRNRVC FLDDEVTVPL GTMRATGDFV TVKDGEIFFL GRKDSQIKRH
460 470 480 490 500
GKRLNIELVQ QVAEELQQVE SCAVTWYNQE KLILFMVSKD ASVKEYIFKE
510 520 530 540 550
LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY INLKSENKLS
560 570 580 590 600
GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE
610 620 630 640 650
KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD
660 670 680 690 700
INQEEASGTS LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG
710 720 730 740 750
HCSSACPSDS VSQTNIQNLK GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT
760 770 780 790 800
QKMELHVRWR SDTGKCVDAS PLVVIPTFDK SSTTVYIGSH SHRMKAVDFY
810 820 830 840 850
SGKVKWEQIL GDRIESSACV SKCGNFIVVG CYNGLVYVLK SNSGEKYWMF
860 870 880 890 900
TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA LDIYRKKCVW KSKCGGTVFS
910 920 930 940 950
SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL FSSPQCCSQY
960 970 980 990 1000
ICIGCVDGNL LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF
1010 1020 1030 1040 1050
IYCCNMKGHL QWKFETTSRV YATPFAFHNY NGSNEMLLAA ASTDGKVWIL
1060 1070 1080 1090
ESQSGQLQSV YELPGEVFSS PVVLESMLII GCRDNYVYCL DLLGGNQK
Length:1,098
Mass (Da):122,597
Last modified:November 24, 2009 - v3
<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:i067ACB7C020AD4F1
GO
Isoform 2 (identifier: Q4L235-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Note: No experimental confirmation available.
Show »
Length:998
Mass (Da):111,420
Checksum:i55CA500C21B0BA59
GO
Isoform 3 (identifier: Q4L235-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     831-841: CYNGLVYVLKS → KFLNLRFVELN
     842-1098: Missing.

Show »
Length:841
Mass (Da):94,282
Checksum:iDDAF31A91E9453B3
GO
Isoform 4 (identifier: Q4L235-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     831-857: CYNGLVYVLKSNSGEKYWMFTTEDAVK → LAVLYQWTNLFIPVYLTIRAKNIFWFP
     858-1098: Missing.

Note: No experimental confirmation available.
Show »
Length:857
Mass (Da):96,217
Checksum:iFCF911A56BB00CA7
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R4GNB1R4GNB1_HUMAN
Beta-alanine-activating enzyme
AASDH
945Annotation 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>
D6RJA2D6RJA2_HUMAN
Beta-alanine-activating enzyme
AASDH
120Annotation 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>
E9PH98E9PH98_HUMAN
Beta-alanine-activating enzyme
AASDH
86Annotation 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 CAH56482 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 conflicti167I → R in AAI41825 (PubMed:15489334).Curated1
Sequence conflicti167I → R in AAI42710 (PubMed:15489334).Curated1
Sequence conflicti309T → A in CAH56130 (PubMed:17974005).Curated1
Sequence conflicti428D → G in AAQ83120 (PubMed:15865210).Curated1
Sequence conflicti428D → G in CAH56482 (PubMed:17974005).Curated1
Sequence conflicti470E → V in CAH56482 (PubMed:17974005).Curated1
Sequence conflicti489K → Q in CAH56482 (PubMed:17974005).Curated1
Sequence conflicti498F → L in CAH56482 (PubMed:17974005).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_06100861I → V1 PublicationCorresponds to variant dbSNP:rs34543011Ensembl.1
Natural variantiVAR_06100993P → R1 PublicationCorresponds to variant dbSNP:rs34228795Ensembl.1
Natural variantiVAR_038309368K → R. Corresponds to variant dbSNP:rs3796543Ensembl.1
Natural variantiVAR_038310747A → V2 PublicationsCorresponds to variant dbSNP:rs3796544Ensembl.1
Natural variantiVAR_038311774V → I. Corresponds to variant dbSNP:rs3796545Ensembl.1
Natural variantiVAR_038312865T → A. Corresponds to variant dbSNP:rs12498340Ensembl.1
Natural variantiVAR_0383131030Y → D1 PublicationCorresponds to variant dbSNP:rs8340Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0307071 – 100Missing in isoform 2. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_030710831 – 857CYNGL…EDAVK → LAVLYQWTNLFIPVYLTIRA KNIFWFP in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_030711831 – 841CYNGLVYVLKS → KFLNLRFVELN in isoform 3. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_030712842 – 1098Missing in isoform 3. 2 PublicationsAdd BLAST257
Alternative sequenceiVSP_030713858 – 1098Missing in isoform 4. 1 PublicationAdd BLAST241

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY314787 mRNA Translation: AAQ83120.1
AF516672 mRNA Translation: AAP76519.1
AY422212 mRNA Translation: AAR31184.1
BX640635 Transcribed RNA Translation: CAH56482.1 Different initiation.
BX648853 mRNA Translation: CAH56130.1
AC068620 Genomic DNA No translation available.
BC071815 mRNA Translation: AAH71815.1
BC141824 mRNA Translation: AAI41825.1
BC142709 mRNA Translation: AAI42710.1
AF161436 mRNA Translation: AAF28996.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3504.1 [Q4L235-1]
CCDS68705.1 [Q4L235-2]
CCDS68706.1 [Q4L235-4]
CCDS75127.1 [Q4L235-3]

NCBI Reference Sequences

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RefSeqi
NP_001273597.1, NM_001286668.1 [Q4L235-2]
NP_001273598.1, NM_001286669.1
NP_001273599.1, NM_001286670.1
NP_001273600.1, NM_001286671.1 [Q4L235-4]
NP_001273601.1, NM_001286672.1 [Q4L235-3]
NP_001310819.1, NM_001323890.1
NP_001310821.1, NM_001323892.1
NP_001310822.1, NM_001323893.1
NP_001310828.1, NM_001323899.1
NP_861522.2, NM_181806.3 [Q4L235-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000205214; ENSP00000205214; ENSG00000157426 [Q4L235-1]
ENST00000451613; ENSP00000409656; ENSG00000157426 [Q4L235-4]
ENST00000502617; ENSP00000421171; ENSG00000157426 [Q4L235-3]
ENST00000513376; ENSP00000423760; ENSG00000157426 [Q4L235-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
132949

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:132949

UCSC genome browser

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UCSCi
uc003hbn.5 human [Q4L235-1]

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
AY314787 mRNA Translation: AAQ83120.1
AF516672 mRNA Translation: AAP76519.1
AY422212 mRNA Translation: AAR31184.1
BX640635 Transcribed RNA Translation: CAH56482.1 Different initiation.
BX648853 mRNA Translation: CAH56130.1
AC068620 Genomic DNA No translation available.
BC071815 mRNA Translation: AAH71815.1
BC141824 mRNA Translation: AAI41825.1
BC142709 mRNA Translation: AAI42710.1
AF161436 mRNA Translation: AAF28996.1
CCDSiCCDS3504.1 [Q4L235-1]
CCDS68705.1 [Q4L235-2]
CCDS68706.1 [Q4L235-4]
CCDS75127.1 [Q4L235-3]
RefSeqiNP_001273597.1, NM_001286668.1 [Q4L235-2]
NP_001273598.1, NM_001286669.1
NP_001273599.1, NM_001286670.1
NP_001273600.1, NM_001286671.1 [Q4L235-4]
NP_001273601.1, NM_001286672.1 [Q4L235-3]
NP_001310819.1, NM_001323890.1
NP_001310821.1, NM_001323892.1
NP_001310822.1, NM_001323893.1
NP_001310828.1, NM_001323899.1
NP_861522.2, NM_181806.3 [Q4L235-1]

3D structure databases

SMRiQ4L235
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126342, 6 interactors
IntActiQ4L235, 1 interactor
STRINGi9606.ENSP00000205214

PTM databases

iPTMnetiQ4L235
PhosphoSitePlusiQ4L235

Polymorphism and mutation databases

BioMutaiAASDH
DMDMi269849683

Proteomic databases

EPDiQ4L235
jPOSTiQ4L235
MaxQBiQ4L235
PaxDbiQ4L235
PeptideAtlasiQ4L235
PRIDEiQ4L235
ProteomicsDBi62225
62226 [Q4L235-2]
62227 [Q4L235-3]
62228 [Q4L235-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
132949
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000205214; ENSP00000205214; ENSG00000157426 [Q4L235-1]
ENST00000451613; ENSP00000409656; ENSG00000157426 [Q4L235-4]
ENST00000502617; ENSP00000421171; ENSG00000157426 [Q4L235-3]
ENST00000513376; ENSP00000423760; ENSG00000157426 [Q4L235-2]
GeneIDi132949
KEGGihsa:132949
UCSCiuc003hbn.5 human [Q4L235-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
132949
DisGeNETi132949

GeneCards: human genes, protein and diseases

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GeneCardsi
AASDH

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0024559
HGNCiHGNC:23993 AASDH
HPAiHPA036472
HPA036473
MIMi614365 gene
neXtProtiNX_Q4L235
OpenTargetsiENSG00000157426
PharmGKBiPA162375178

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1178 Eukaryota
KOG4649 Eukaryota
COG1520 LUCA
GeneTreeiENSGT00440000033811
InParanoidiQ4L235
KOiK00142
OMAiRRCYIPE
OrthoDBi881306at2759
PhylomeDBiQ4L235
TreeFamiTF314245

Enzyme and pathway databases

BRENDAi1.2.1.31 2681

Miscellaneous databases

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

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ChiTaRSi
AASDH human

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

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GenomeRNAii
132949

Protein Ontology

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PROi
PR:Q4L235

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000157426 Expressed in 197 organ(s), highest expression level in kidney epithelium
ExpressionAtlasiQ4L235 baseline and differential
GenevisibleiQ4L235 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
3.40.50.12780, 1 hit
InterProiView protein in InterPro
IPR036736 ACP-like_sf
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig
IPR042099 AMP-dep_Synthh-like_sf
IPR009081 PP-bd_ACP
IPR025666 PQQ-like_dom
IPR018391 PQQ_beta_propeller_repeat
IPR002372 PQQ_repeat
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
PfamiView protein in Pfam
PF00501 AMP-binding, 1 hit
PF00550 PP-binding, 1 hit
PF13360 PQQ_2, 1 hit
PF13570 PQQ_3, 1 hit
SMARTiView protein in SMART
SM00564 PQQ, 6 hits
SUPFAMiSSF47336 SSF47336, 1 hit
SSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS00455 AMP_BINDING, 1 hit
PS50075 CARRIER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<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 nameiACSF4_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: Q4L235
Secondary accession number(s): A5D8V3
, A5PL22, Q63HK2, Q63HR7, Q6IPP8, Q6TFZ6, Q7Z5Y3, Q96BW4, Q9P064
<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: November 24, 2009
Last modified: May 8, 2019
This is version 115 of the entry and version 3 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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