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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 keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei428ATPBy similarity1
Binding sitei442ATPBy similarity1
Binding sitei527ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi198 – 206ATPBy similarity9

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

BRENDAi1.2.1.31 2681

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000157426.13
HGNCiHGNC:23993 AASDH
MIMi614365 gene
neXtProtiNX_Q4L235

Pathology & Biotechi

Organism-specific databases

DisGeNETi132949
OpenTargetsiENSG00000157426
PharmGKBiPA162375178

Polymorphism and mutation databases

BioMutaiAASDH
DMDMi269849683

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003158031 – 1098Beta-alanine-activating enzymeAdd BLAST1098

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei589O-(pantetheine 4'-phosphoryl)serinePROSITE-ProRule annotation1
Modified residuei649PhosphoserineCombined sources1
Modified residuei724PhosphoserineCombined sources1

Keywords - PTMi

Phosphopantetheine, Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ4L235
PhosphoSitePlusiQ4L235

Expressioni

Tissue specificityi

Ubiquitously expressed in adult tissues.1 Publication

Gene expression databases

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

Organism-specific databases

HPAiHPA036472
HPA036473

Interactioni

Protein-protein interaction databases

BioGridi126342, 6 interactors
STRINGi9606.ENSP00000205214

Structurei

3D structure databases

ProteinModelPortaliQ4L235
SMRiQ4L235
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini553 – 630CarrierPROSITE-ProRule annotationAdd BLAST78

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1178 Eukaryota
KOG4649 Eukaryota
COG1520 LUCA
GeneTreeiENSGT00440000033811
HOVERGENiHBG057704
InParanoidiQ4L235
KOiK00142
OMAiCYNGLVY
OrthoDBiEOG091G05QW
PhylomeDBiQ4L235
TreeFamiTF314245

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR036736 ACP-like_sf
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig
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

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 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
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

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:
D6RJA2D6RJA2_HUMAN
Beta-alanine-activating enzyme
AASDH
120Annotation score:
E9PH98E9PH98_HUMAN
Beta-alanine-activating enzyme
AASDH
86Annotation score:

Sequence cautioni

The sequence CAH56482 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
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:
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]
UniGeneiHs.104347

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
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]
UniGeneiHs.104347

3D structure databases

ProteinModelPortaliQ4L235
SMRiQ4L235
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126342, 6 interactors
STRINGi9606.ENSP00000205214

PTM databases

iPTMnetiQ4L235
PhosphoSitePlusiQ4L235

Polymorphism and mutation databases

BioMutaiAASDH
DMDMi269849683

Proteomic databases

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

Protocols and materials databases

DNASUi132949
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

CTDi132949
DisGeNETi132949
EuPathDBiHostDB:ENSG00000157426.13
GeneCardsiAASDH
H-InvDBiHIX0024559
HGNCiHGNC:23993 AASDH
HPAiHPA036472
HPA036473
MIMi614365 gene
neXtProtiNX_Q4L235
OpenTargetsiENSG00000157426
PharmGKBiPA162375178
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1178 Eukaryota
KOG4649 Eukaryota
COG1520 LUCA
GeneTreeiENSGT00440000033811
HOVERGENiHBG057704
InParanoidiQ4L235
KOiK00142
OMAiCYNGLVY
OrthoDBiEOG091G05QW
PhylomeDBiQ4L235
TreeFamiTF314245

Enzyme and pathway databases

BRENDAi1.2.1.31 2681

Miscellaneous databases

ChiTaRSiAASDH human
GenomeRNAii132949
PROiPR:Q4L235
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR036736 ACP-like_sf
IPR020845 AMP-binding_CS
IPR000873 AMP-dep_Synth/Lig
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
ProtoNetiSearch...

Entry informationi

Entry nameiACSF4_HUMAN
AccessioniPrimary (citable) accession number: Q4L235
Secondary accession number(s): A5D8V3
, A5PL22, Q63HK2, Q63HR7, Q6IPP8, Q6TFZ6, Q7Z5Y3, Q96BW4, Q9P064
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 24, 2009
Last modified: September 12, 2018
This is version 111 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  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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