UniProtKB - Q4L235 (ACSF4_HUMAN)

>sp|Q4L235|ACSF4_HUMAN Beta-alanine-activating enzyme OS=Homo sapiens OX=9606 GN=AASDH PE=1 SV=3
MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIRE
IGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFK
SFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKA
EEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPL
TFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQL
IKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPE
KTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPL
GTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQE
KLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNY
INLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIE
KLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTS
LHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLK
GLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDK
SSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLK
SNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFS
SPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNL
LCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRV
YATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLII
GCRDNYVYCLDLLGGNQK

Entry version 128 (02 Jun 2021)
Sequence version 3 (24 Nov 2009)
Previous versions | rss

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Protein

Beta-alanine-activating enzyme

Gene

AASDH

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

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	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

Complete GO annotation on QuickGO ...

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

Complete GO annotation on QuickGO ...

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:23993, AASDH
MIMⁱ	614365, gene
neXtProtⁱ	NX_Q4L235
VEuPathDBⁱ	HostDB:ENSG00000157426.13

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	132949
Open Targets More...OpenTargetsⁱ	ENSG00000157426
PharmGKBⁱ	PA162375178

Miscellaneous databases

Pharosⁱ	Q4L235, Tdark

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	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, Phosphoprotein

Proteomic databases

jPOSTⁱ	Q4L235
MassIVEⁱ	Q4L235
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q4L235
PaxDbⁱ	Q4L235
PeptideAtlas More...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

Human Protein Atlas More...HPAⁱ	ENSG00000157426, Low tissue specificity

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

RNActⁱ

Q4L235, protein

Structureⁱ

3D structure databases

SMRⁱ	Q4L235
ModBaseⁱ	Search...

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
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00440000033811
InParanoidⁱ	Q4L235
OMAⁱ	MCIDDEQ
Database of Orthologous Groups More...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
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
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

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q4L235-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ 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

Checksum:ⁱ067ACB7C020AD4F1

Isoform 2 (identifier: Q4L235-2) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MKKCNLKYIL VEKKQINKFK SFHETLLNYD TFTVEHNDLV LFRLHWKNTE 
        60         70         80         90        100
VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA EEHMDLRLKH CLAYVLHTSG 
       110        120        130        140        150
TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL TFDPSVVEIF 
       160        170        180        190        200
LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL 
       210        220        230        240        250
IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS 
       260        270        280        290        300
SWATIYRIPE KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ 
       310        320        330        340        350
VFLGGRNRVC FLDDEVTVPL GTMRATGDFV TVKDGEIFFL GRKDSQIKRH 
       360        370        380        390        400
GKRLNIELVQ QVAEELQQVE SCAVTWYNQE KLILFMVSKD ASVKEYIFKE 
       410        420        430        440        450
LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY INLKSENKLS 
       460        470        480        490        500
GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE 
       510        520        530        540        550
KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD 
       560        570        580        590        600
INQEEASGTS LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG 
       610        620        630        640        650
HCSSACPSDS VSQTNIQNLK GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT 
       660        670        680        690        700
QKMELHVRWR SDTGKCVDAS PLVVIPTFDK SSTTVYIGSH SHRMKAVDFY 
       710        720        730        740        750
SGKVKWEQIL GDRIESSACV SKCGNFIVVG CYNGLVYVLK SNSGEKYWMF 
       760        770        780        790        800
TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA LDIYRKKCVW KSKCGGTVFS 
       810        820        830        840        850
SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL FSSPQCCSQY 
       860        870        880        890        900
ICIGCVDGNL LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF 
       910        920        930        940        950
IYCCNMKGHL QWKFETTSRV YATPFAFHNY NGSNEMLLAA ASTDGKVWIL 
       960        970        980        990 
ESQSGQLQSV YELPGEVFSS PVVLESMLII GCRDNYVYCL DLLGGNQK

Show »

Length:998

Mass (Da):111,420

Checksum:ⁱ55CA500C21B0BA59

Isoform 3 (identifier: Q4L235-3) [UniParc]FASTA Add to basket

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

« 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 
SGKVKWEQIL GDRIESSACV SKCGNFIVVG KFLNLRFVEL N

Show »

Length:841

Mass (Da):94,282

Checksum:ⁱDDAF31A91E9453B3

Isoform 4 (identifier: Q4L235-4) [UniParc]FASTA Add to basket

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

« 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 LAVLYQWTNL FIPVYLTIRA 

KNIFWFP

Show »

Length:857

Mass (Da):96,217

Checksum:ⁱFCF911A56BB00CA7

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

R4GNB1	R4GNB1_HUMAN	Beta-alanine-activating enzyme Beta-alanine-activating enzyme	AASDH	945	Annotation score:
D6RJA2	D6RJA2_HUMAN	Beta-alanine-activating enzyme Beta-alanine-activating enzyme	AASDH	120	Annotation score:
E9PH98	E9PH98_HUMAN	Beta-alanine-activating enzyme 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	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	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	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
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 More...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
UCSC genome browser More...UCSCⁱ	uc003hbn.5, human [Q4L235-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Protein	Similar proteins		Species	Score	Length	Source
Q4L235	Isoform 2 of Beta-alanine-activating enzyme		HUMAN		998	UniRef100_Q4L235
Beta-alanine-activating enzyme		HUMAN		945
+2

Protein	Similar proteins		Species	Score	Length	Source
Q4L235	Isoform 2 of Beta-alanine-activating enzyme		HUMAN		998	UniRef90_Q4L235
Carrier domain-containing protein		RHIRO		1098
Aminoadipate-semialdehyde dehydrogenase		SAIBB		1098
Aminoadipate-semialdehyde dehydrogenase		CERAT		1098
Aminoadipate-semialdehyde dehydrogenase		COLAP		1098
+52
Q4L235-3	Isoform 4 of Beta-alanine-activating enzyme		HUMAN		857	UniRef90_Q4L235-4
AASDH isoform 2		PONAB		858
Carrier domain-containing protein		NOMLE		858
AASDH isoform 2		PANTR		857
Aminoadipate-semialdehyde dehydrogenase		MACFA		857
+12

Protein	Similar proteins		Species	Score	Length	Source
Q4L235	Isoform 2 of Beta-alanine-activating enzyme		HUMAN		998	UniRef50_Q4L235
Aminoadipate-semialdehyde dehydrogenase		MACFA		1098
Aminoadipate-semialdehyde dehydrogenase		AOTNA		1098
Aminoadipate-semialdehyde dehydrogenase		CERAT		1098
Aminoadipate-semialdehyde dehydrogenase		PANTR		1098
+510

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, 57 antibodies
The DNASU plasmid repository More...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
GenAtlas: human gene database More...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, 2 hits in 995 CRISPR screens
ChiTaRSⁱ	AASDH, human
GenomeRNAiⁱ	132949
Pharosⁱ	Q4L235, Tdark
Protein Ontology More...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
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:	June 2, 2021
	This is version 128 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 proteome

Documents

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

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UniProtKB - Q4L235 (ACSF4_HUMAN)

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Beta-alanine-activating enzyme

AASDH

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Keywords - Coding sequence diversityi

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Functionⁱ

GO - Molecular functionⁱ

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Pathology & Biotechⁱ

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Keywords - PTMⁱ

Expressionⁱ

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Keywords - Coding sequence diversityⁱ

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Keywords - Technical termⁱ