UniProtKB - Q4L235 (ACSF4_HUMAN)
Protein
Beta-alanine-activating enzyme
Gene
AASDH
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 428 | ATPBy similarity | 1 | |
Binding sitei | 442 | ATPBy similarity | 1 | |
Binding sitei | 527 | ATPBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 198 – 206 | ATPBy similarity | 9 |
GO - Molecular functioni
- acid-thiol ligase activity Source: UniProtKB
- ATP binding Source: UniProtKB-KW
GO - Biological processi
- amino acid activation for nonribosomal peptide biosynthetic process Source: Ensembl
- beta-alanine metabolic process Source: Ensembl
- fatty acid metabolic process Source: UniProtKB
Keywordsi
Molecular function | Ligase |
Biological process | Fatty acid metabolism, Lipid metabolism |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 1.2.1.31, 2681 |
PathwayCommonsi | Q4L235 |
Names & Taxonomyi
Protein namesi | Recommended name: Beta-alanine-activating enzymeBy similarity (EC:6.2.1.-)Alternative name(s): Acyl-CoA synthetase family member 4 Protein NRPS998 |
Gene namesi | Name:AASDH Synonyms:ACSF4, U26 ORF Names:HSPC318 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23993, AASDH |
MIMi | 614365, gene |
neXtProti | NX_Q4L235 |
VEuPathDBi | HostDB:ENSG00000157426.13 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 132949 |
OpenTargetsi | ENSG00000157426 |
PharmGKBi | PA162375178 |
Miscellaneous databases
Pharosi | Q4L235, Tdark |
Genetic variation databases
BioMutai | AASDH |
DMDMi | 269849683 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000315803 | 1 – 1098 | Beta-alanine-activating enzymeAdd BLAST | 1098 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 589 | O-(pantetheine 4'-phosphoryl)serinePROSITE-ProRule annotation | 1 | |
Modified residuei | 649 | PhosphoserineCombined sources | 1 | |
Modified residuei | 724 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Phosphopantetheine, PhosphoproteinProteomic databases
jPOSTi | Q4L235 |
MassIVEi | Q4L235 |
MaxQBi | Q4L235 |
PaxDbi | Q4L235 |
PeptideAtlasi | Q4L235 |
PRIDEi | Q4L235 |
ProteomicsDBi | 62225 [Q4L235-1] 62226 [Q4L235-2] 62227 [Q4L235-3] 62228 [Q4L235-4] |
PTM databases
iPTMneti | Q4L235 |
PhosphoSitePlusi | Q4L235 |
Expressioni
Tissue specificityi
Ubiquitously expressed in adult tissues.1 Publication
Gene expression databases
Bgeei | ENSG00000157426, Expressed in kidney epithelium and 213 other tissues |
ExpressionAtlasi | Q4L235, baseline and differential |
Genevisiblei | Q4L235, HS |
Organism-specific databases
HPAi | ENSG00000157426, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 126342, 8 interactors |
IntActi | Q4L235, 4 interactors |
STRINGi | 9606.ENSP00000205214 |
Miscellaneous databases
RNActi | Q4L235, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 553 – 630 | CarrierPROSITE-ProRule annotationAdd BLAST | 78 |
Sequence similaritiesi
Belongs to the ATP-dependent AMP-binding enzyme family.Curated
Phylogenomic databases
eggNOGi | KOG1178, Eukaryota KOG4649, Eukaryota |
GeneTreei | ENSGT00440000033811 |
InParanoidi | Q4L235 |
OMAi | MCIDDEQ |
OrthoDBi | 881306at2759 |
PhylomeDBi | Q4L235 |
TreeFami | TF314245 |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits 3.40.50.12780, 1 hit |
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 |
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 |
SMARTi | View protein in SMART SM00564, PQQ, 6 hits |
SUPFAMi | SSF47336, SSF47336, 1 hit SSF50998, SSF50998, 1 hit |
PROSITEi | View protein in PROSITE PS00455, AMP_BINDING, 1 hit PS50075, CARRIER, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketR4GNB1 | R4GNB1_HUMAN | Beta-alanine-activating enzyme | AASDH | 945 | Annotation score: | ||
D6RJA2 | D6RJA2_HUMAN | Beta-alanine-activating enzyme | AASDH | 120 | Annotation score: | ||
E9PH98 | E9PH98_HUMAN | Beta-alanine-activating enzyme | AASDH | 86 | Annotation score: |
Sequence cautioni
The sequence CAH56482 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 167 | I → R in AAI41825 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 167 | I → R in AAI42710 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 309 | T → A in CAH56130 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 428 | D → G in AAQ83120 (PubMed:15865210).Curated | 1 | |
Sequence conflicti | 428 | D → G in CAH56482 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 470 | E → V in CAH56482 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 489 | K → Q in CAH56482 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 498 | F → L in CAH56482 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061008 | 61 | I → V1 PublicationCorresponds to variant dbSNP:rs34543011Ensembl. | 1 | |
Natural variantiVAR_061009 | 93 | P → R1 PublicationCorresponds to variant dbSNP:rs34228795Ensembl. | 1 | |
Natural variantiVAR_038309 | 368 | K → R. Corresponds to variant dbSNP:rs3796543Ensembl. | 1 | |
Natural variantiVAR_038310 | 747 | A → V2 PublicationsCorresponds to variant dbSNP:rs3796544Ensembl. | 1 | |
Natural variantiVAR_038311 | 774 | V → I. Corresponds to variant dbSNP:rs3796545Ensembl. | 1 | |
Natural variantiVAR_038312 | 865 | T → A. Corresponds to variant dbSNP:rs12498340Ensembl. | 1 | |
Natural variantiVAR_038313 | 1030 | Y → D1 PublicationCorresponds to variant dbSNP:rs8340Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030707 | 1 – 100 | Missing in isoform 2. 1 PublicationAdd BLAST | 100 | |
Alternative sequenceiVSP_030710 | 831 – 857 | CYNGL…EDAVK → LAVLYQWTNLFIPVYLTIRA KNIFWFP in isoform 4. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_030711 | 831 – 841 | CYNGLVYVLKS → KFLNLRFVELN in isoform 3. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_030712 | 842 – 1098 | Missing in isoform 3. 2 PublicationsAdd BLAST | 257 | |
Alternative sequenceiVSP_030713 | 858 – 1098 | Missing in isoform 4. 1 PublicationAdd BLAST | 241 |
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 |
CCDSi | CCDS3504.1 [Q4L235-1] CCDS68705.1 [Q4L235-2] CCDS68706.1 [Q4L235-4] CCDS75127.1 [Q4L235-3] |
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
Ensembli | ENST00000205214; ENSP00000205214; ENSG00000157426 [Q4L235-1] ENST00000451613; ENSP00000409656; ENSG00000157426 [Q4L235-4] ENST00000502617; ENSP00000421171; ENSG00000157426 [Q4L235-3] ENST00000513376; ENSP00000423760; ENSG00000157426 [Q4L235-2] |
GeneIDi | 132949 |
KEGGi | hsa:132949 |
UCSCi | uc003hbn.5, human [Q4L235-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS3504.1 [Q4L235-1] CCDS68705.1 [Q4L235-2] CCDS68706.1 [Q4L235-4] CCDS75127.1 [Q4L235-3] |
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] |
3D structure databases
SMRi | Q4L235 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126342, 8 interactors |
IntActi | Q4L235, 4 interactors |
STRINGi | 9606.ENSP00000205214 |
PTM databases
iPTMneti | Q4L235 |
PhosphoSitePlusi | Q4L235 |
Genetic variation databases
BioMutai | AASDH |
DMDMi | 269849683 |
Proteomic databases
jPOSTi | Q4L235 |
MassIVEi | Q4L235 |
MaxQBi | Q4L235 |
PaxDbi | Q4L235 |
PeptideAtlasi | Q4L235 |
PRIDEi | Q4L235 |
ProteomicsDBi | 62225 [Q4L235-1] 62226 [Q4L235-2] 62227 [Q4L235-3] 62228 [Q4L235-4] |
Protocols and materials databases
Antibodypediai | 24007, 58 antibodies |
DNASUi | 132949 |
Genome annotation databases
Ensembli | ENST00000205214; ENSP00000205214; ENSG00000157426 [Q4L235-1] ENST00000451613; ENSP00000409656; ENSG00000157426 [Q4L235-4] ENST00000502617; ENSP00000421171; ENSG00000157426 [Q4L235-3] ENST00000513376; ENSP00000423760; ENSG00000157426 [Q4L235-2] |
GeneIDi | 132949 |
KEGGi | hsa:132949 |
UCSCi | uc003hbn.5, human [Q4L235-1] |
Organism-specific databases
CTDi | 132949 |
DisGeNETi | 132949 |
GeneCardsi | AASDH |
HGNCi | HGNC:23993, AASDH |
HPAi | ENSG00000157426, Low tissue specificity |
MIMi | 614365, gene |
neXtProti | NX_Q4L235 |
OpenTargetsi | ENSG00000157426 |
PharmGKBi | PA162375178 |
VEuPathDBi | HostDB:ENSG00000157426.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1178, Eukaryota KOG4649, Eukaryota |
GeneTreei | ENSGT00440000033811 |
InParanoidi | Q4L235 |
OMAi | MCIDDEQ |
OrthoDBi | 881306at2759 |
PhylomeDBi | Q4L235 |
TreeFami | TF314245 |
Enzyme and pathway databases
BRENDAi | 1.2.1.31, 2681 |
PathwayCommonsi | Q4L235 |
Miscellaneous databases
BioGRID-ORCSi | 132949, 1 hit in 875 CRISPR screens |
ChiTaRSi | AASDH, human |
GenomeRNAii | 132949 |
Pharosi | Q4L235, Tdark |
PROi | PR:Q4L235 |
RNActi | Q4L235, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000157426, Expressed in kidney epithelium and 213 other tissues |
ExpressionAtlasi | Q4L235, baseline and differential |
Genevisiblei | Q4L235, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 2 hits 3.40.50.12780, 1 hit |
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 |
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 |
SMARTi | View protein in SMART SM00564, PQQ, 6 hits |
SUPFAMi | SSF47336, SSF47336, 1 hit SSF50998, SSF50998, 1 hit |
PROSITEi | View protein in PROSITE PS00455, AMP_BINDING, 1 hit PS50075, CARRIER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ACSF4_HUMAN | |
Accessioni | Q4L235Primary (citable) accession number: Q4L235 Secondary accession number(s): A5D8V3 Q9P064 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | November 24, 2009 | |
Last modified: | February 10, 2021 | |
This is version 126 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families