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Q4L235 (ACSF4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acyl-CoA synthetase family member 4

EC=6.2.1.-
Alternative name(s):
Aminoadipate-semialdehyde dehydrogenase
Protein NRPS998
Gene names
Name:AASDH
Synonyms:ACSF4, U26
ORF Names:HSPC318
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1098 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Tissue specificity

Ubiquitously expressed in adult tissues. Ref.1

Sequence similarities

Belongs to the ATP-dependent AMP-binding enzyme family.

Contains 1 acyl carrier domain.

Sequence caution

The sequence CAH56482.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4L235-1)

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.
Isoform 2 (identifier: Q4L235-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q4L235-3)

The sequence of this isoform differs from the canonical sequence as follows:
     831-841: CYNGLVYVLKS → KFLNLRFVELN
     842-1098: Missing.
Isoform 4 (identifier: Q4L235-4)

The sequence of this isoform differs from the canonical sequence as follows:
     831-857: CYNGLVYVLKSNSGEKYWMFTTEDAVK → LAVLYQWTNLFIPVYLTIRAKNIFWFP
     858-1098: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10981098Acyl-CoA synthetase family member 4
PRO_0000315803

Regions

Domain555 – 62672Acyl carrier
Nucleotide binding198 – 2069ATP By similarity

Sites

Binding site4281ATP By similarity
Binding site4421ATP By similarity
Binding site5271ATP By similarity

Amino acid modifications

Modified residue5891O-(pantetheine 4'-phosphoryl)serine By similarity
Modified residue6491Phosphoserine Ref.7

Natural variations

Alternative sequence1 – 100100Missing in isoform 2.
VSP_030707
Alternative sequence831 – 85727CYNGL…EDAVK → LAVLYQWTNLFIPVYLTIRA KNIFWFP in isoform 4.
VSP_030710
Alternative sequence831 – 84111CYNGLVYVLKS → KFLNLRFVELN in isoform 3.
VSP_030711
Alternative sequence842 – 1098257Missing in isoform 3.
VSP_030712
Alternative sequence858 – 1098241Missing in isoform 4.
VSP_030713
Natural variant611I → V. Ref.6
Corresponds to variant rs34543011 [ dbSNP | Ensembl ].
VAR_061008
Natural variant931P → R. Ref.6
Corresponds to variant rs34228795 [ dbSNP | Ensembl ].
VAR_061009
Natural variant3681K → R.
Corresponds to variant rs3796543 [ dbSNP | Ensembl ].
VAR_038309
Natural variant7471A → V. Ref.2 Ref.5
Corresponds to variant rs3796544 [ dbSNP | Ensembl ].
VAR_038310
Natural variant7741V → I.
Corresponds to variant rs3796545 [ dbSNP | Ensembl ].
VAR_038311
Natural variant8651T → A.
Corresponds to variant rs12498340 [ dbSNP | Ensembl ].
VAR_038312
Natural variant10301Y → D. Ref.1
Corresponds to variant rs8340 [ dbSNP | Ensembl ].
VAR_038313

Experimental info

Sequence conflict1671I → R in AAI41825. Ref.5
Sequence conflict1671I → R in AAI42710. Ref.5
Sequence conflict3091T → A in CAH56130. Ref.3
Sequence conflict4281D → G in AAQ83120. Ref.1
Sequence conflict4281D → G in CAH56482. Ref.3
Sequence conflict4701E → V in CAH56482. Ref.3
Sequence conflict4891K → Q in CAH56482. Ref.3
Sequence conflict4981F → L in CAH56482. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 3.
Checksum: 067ACB7C020AD4F1

FASTA1,098122,597
        10         20         30         40         50         60 
MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE 

        70         80         90        100        110        120 
IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF MKKCNLKYIL VEKKQINKFK 

       130        140        150        160        170        180 
SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA 

       190        200        210        220        230        240 
EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL 

       250        260        270        280        290        300 
TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL 

       310        320        330        340        350        360 
IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS SWATIYRIPE 

       370        380        390        400        410        420 
KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ VFLGGRNRVC FLDDEVTVPL 

       430        440        450        460        470        480 
GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ QVAEELQQVE SCAVTWYNQE 

       490        500        510        520        530        540 
KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY 

       550        560        570        580        590        600 
INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE 

       610        620        630        640        650        660 
KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD INQEEASGTS 

       670        680        690        700        710        720 
LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG HCSSACPSDS VSQTNIQNLK 

       730        740        750        760        770        780 
GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT QKMELHVRWR SDTGKCVDAS PLVVIPTFDK 

       790        800        810        820        830        840 
SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV SKCGNFIVVG CYNGLVYVLK 

       850        860        870        880        890        900 
SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA LDIYRKKCVW KSKCGGTVFS 

       910        920        930        940        950        960 
SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL FSSPQCCSQY ICIGCVDGNL 

       970        980        990       1000       1010       1020 
LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF IYCCNMKGHL QWKFETTSRV 

      1030       1040       1050       1060       1070       1080 
YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV YELPGEVFSS PVVLESMLII 

      1090 
GCRDNYVYCL DLLGGNQK 

« Hide

Isoform 2 [UniParc].

Checksum: 55CA500C21B0BA59
Show »

FASTA998111,420
Isoform 3 [UniParc].

Checksum: DDAF31A91E9453B3
Show »

FASTA84194,282
Isoform 4 [UniParc].

Checksum: FCF911A56BB00CA7
Show »

FASTA85796,217

References

« Hide 'large scale' references
[1]"Cloning and characterization of a novel human homolog of mouse U26, a putative PQQ-dependent AAS dehydrogenase."
Wang L., Jil C., Xu Y., Xu J., Dai J., Wu Q., Wu M., Zou X., Sun L., Gu S., Xie Y., Mao Y.
Mol. Biol. Rep. 32:47-53(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ASP-1030.
Tissue: Fetal brain.
[2]"Identification and preliminary characterization of a human protein with similarity to microbial peptide synthetases."
Paliga K., Bauer K.
Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT VAL-747.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-1098.
Tissue: Liver and Small intestine.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT VAL-747.
[6]"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. expand/collapse author list , Gu J., Chen S.-J., Chen Z.
Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-164, VARIANTS VAL-61 AND ARG-93.
Tissue: Umbilical cord blood.
[7]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-649, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3504.1. [Q4L235-1]
CCDS68705.1. [Q4L235-2]
CCDS68706.1. [Q4L235-4]
RefSeqNP_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_861522.2. NM_181806.3. [Q4L235-1]
XP_005265778.1. XM_005265721.1. [Q4L235-1]
UniGeneHs.104347.

3D structure databases

ProteinModelPortalQ4L235.
SMRQ4L235. Positions 2-559, 756-1095.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ4L235.

Polymorphism databases

DMDM269849683.

Proteomic databases

MaxQBQ4L235.
PaxDbQ4L235.
PRIDEQ4L235.

Protocols and materials databases

DNASU132949.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000205214; ENSP00000205214; ENSG00000157426. [Q4L235-1]
ENST00000451613; ENSP00000409656; ENSG00000157426. [Q4L235-4]
ENST00000502617; ENSP00000421171; ENSG00000157426. [Q4L235-3]
ENST00000513376; ENSP00000423760; ENSG00000157426. [Q4L235-2]
GeneID132949.
KEGGhsa:132949.
UCSCuc003hbn.3. human. [Q4L235-1]
uc003hbp.3. human. [Q4L235-3]
uc010ihc.3. human. [Q4L235-4]

Organism-specific databases

CTD132949.
GeneCardsGC04M057204.
H-InvDBHIX0024559.
HGNCHGNC:23993. AASDH.
HPAHPA036472.
HPA036473.
MIM614365. gene.
neXtProtNX_Q4L235.
PharmGKBPA162375178.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1520.
HOVERGENHBG057704.
InParanoidQ4L235.
KOK00142.
OMATMRATGD.
OrthoDBEOG77T14J.
PhylomeDBQ4L235.
TreeFamTF314245.

Enzyme and pathway databases

BRENDA1.2.1.31. 2681.

Gene expression databases

ArrayExpressQ4L235.
BgeeQ4L235.
CleanExHS_AASDH.
GenevestigatorQ4L235.

Family and domain databases

Gene3D1.10.1200.10. 1 hit.
2.140.10.10. 1 hit.
InterProIPR009081. Acyl_carrier_prot-like.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
IPR018391. PQQ_beta_propeller_repeat.
IPR027295. Quinonprotein_ADH-like_fam.
IPR011047. Quinonprotein_ADH-like_supfam.
[Graphical view]
PfamPF00501. AMP-binding. 1 hit.
PF00550. PP-binding. 1 hit.
[Graphical view]
SMARTSM00564. PQQ. 6 hits.
[Graphical view]
SUPFAMSSF47336. SSF47336. 1 hit.
SSF50998. SSF50998. 1 hit.
PROSITEPS50075. ACP_DOMAIN. 1 hit.
PS00455. AMP_BINDING. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAASDH. human.
GenomeRNAi132949.
NextBio83164.
PROQ4L235.
SOURCESearch...

Entry information

Entry nameACSF4_HUMAN
AccessionPrimary (citable) accession number: Q4L235
Secondary accession number(s): A5D8V3 expand/collapse secondary AC list , A5PL22, Q63HK2, Q63HR7, Q6IPP8, Q6TFZ6, Q7Z5Y3, Q96BW4, Q9P064
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 80 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM