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Protein

Acyl-CoA synthetase family member 4

Gene

AASDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA.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

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi1.2.1.31. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Acyl-CoA synthetase family member 4 (EC:6.2.1.-)
Alternative name(s):
Aminoadipate-semialdehyde dehydrogenase
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

HGNCiHGNC:23993. AASDH.

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 – 1098Acyl-CoA synthetase family member 4Add 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.

PTM databases

iPTMnetiQ4L235.
PhosphoSitePlusiQ4L235.

Expressioni

Tissue specificityi

Ubiquitously expressed in adult tissues.1 Publication

Gene expression databases

BgeeiENSG00000157426.
CleanExiHS_AASDH.
ExpressionAtlasiQ4L235. baseline and differential.
GenevisibleiQ4L235. HS.

Organism-specific databases

HPAiHPA036472.
HPA036473.

Interactioni

Protein-protein interaction databases

BioGridi126342. 4 interactors.
STRINGi9606.ENSP00000205214.

Structurei

3D structure databases

ProteinModelPortaliQ4L235.
SMRiQ4L235.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini555 – 626Acyl carrierPROSITE-ProRule annotationAdd BLAST72

Sequence similaritiesi

Contains 1 acyl carrier domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.1200.10. 1 hit.
2.140.10.10. 1 hit.
InterProiIPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
IPR009081. PP-bd_ACP.
IPR025666. PQQ-like_dom.
IPR018391. PQQ_beta_propeller_repeat.
IPR002372. PQQ_repeat.
IPR027295. Quinoprotein_ADH-like_fam.
IPR011047. Quinoprotein_ADH-like_supfam.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
PF00550. PP-binding. 1 hit.
PF13360. PQQ_2. 1 hit.
PF13570. PQQ_3. 1 hit.
[Graphical view]
SMARTiSM00564. PQQ. 6 hits.
[Graphical view]
SUPFAMiSSF47336. SSF47336. 1 hit.
SSF50998. SSF50998. 1 hit.
PROSITEiPS50075. ACP_DOMAIN. 1 hit.
PS00455. AMP_BINDING. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

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

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 → V.1 PublicationCorresponds to variant rs34543011dbSNPEnsembl.1
Natural variantiVAR_06100993P → R.1 PublicationCorresponds to variant rs34228795dbSNPEnsembl.1
Natural variantiVAR_038309368K → R.Corresponds to variant rs3796543dbSNPEnsembl.1
Natural variantiVAR_038310747A → V.2 PublicationsCorresponds to variant rs3796544dbSNPEnsembl.1
Natural variantiVAR_038311774V → I.Corresponds to variant rs3796545dbSNPEnsembl.1
Natural variantiVAR_038312865T → A.Corresponds to variant rs12498340dbSNPEnsembl.1
Natural variantiVAR_0383131030Y → D.1 PublicationCorresponds to variant rs8340dbSNPEnsembl.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

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. 4 interactors.
STRINGi9606.ENSP00000205214.

PTM databases

iPTMnetiQ4L235.
PhosphoSitePlusiQ4L235.

Polymorphism and mutation databases

BioMutaiAASDH.
DMDMi269849683.

Proteomic databases

EPDiQ4L235.
MaxQBiQ4L235.
PaxDbiQ4L235.
PeptideAtlasiQ4L235.
PRIDEiQ4L235.

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.
GeneCardsiAASDH.
H-InvDBHIX0024559.
HGNCiHGNC:23993. AASDH.
HPAiHPA036472.
HPA036473.
MIMi614365. gene.
neXtProtiNX_Q4L235.
OpenTargetsiENSG00000157426.
PharmGKBiPA162375178.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BRENDAi1.2.1.31. 2681.

Miscellaneous databases

ChiTaRSiAASDH. human.
GenomeRNAii132949.
PROiQ4L235.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157426.
CleanExiHS_AASDH.
ExpressionAtlasiQ4L235. baseline and differential.
GenevisibleiQ4L235. HS.

Family and domain databases

Gene3Di1.10.1200.10. 1 hit.
2.140.10.10. 1 hit.
InterProiIPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
IPR009081. PP-bd_ACP.
IPR025666. PQQ-like_dom.
IPR018391. PQQ_beta_propeller_repeat.
IPR002372. PQQ_repeat.
IPR027295. Quinoprotein_ADH-like_fam.
IPR011047. Quinoprotein_ADH-like_supfam.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
PF00550. PP-binding. 1 hit.
PF13360. PQQ_2. 1 hit.
PF13570. PQQ_3. 1 hit.
[Graphical view]
SMARTiSM00564. PQQ. 6 hits.
[Graphical view]
SUPFAMiSSF47336. SSF47336. 1 hit.
SSF50998. SSF50998. 1 hit.
PROSITEiPS50075. ACP_DOMAIN. 1 hit.
PS00455. AMP_BINDING. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 24, 2009
Last modified: November 2, 2016
This is version 99 of the entry and version 3 of the sequence. [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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.