Reviewed, UniProtKB/Swiss-Prot Q4L235 (ACSF4_HUMAN)

Names and origin

Protein names

Recommended name:
    Acyl-CoA synthetase family member 4
    EC=6.2.1.-
Alternative name(s):
    Protein NRPS998

Gene names

Name:	AASDH
Synonyms:	ACSF4, U26
ORF Names:	HSPC318

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1098 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript 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.
Sequence similarities	Belongs to the ATP-dependent AMP-binding enzyme family. Contains 1 acyl carrier domain.

Ontologies

Keywords
Biological process	Fatty acid metabolism Lipid metabolism
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	Phosphopantetheine
Molecular function	Ligase
Gene Ontology (GO)
Biological process	fatty acid metabolic process Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	acid-thiol ligase activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 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.

Notes: 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.

Notes: No experimental confirmation available.

Isoform 5 (identifier: Q4L235-5)

The sequence of this isoform differs from the canonical sequence as follows:
     118-134: KFKSFHETLLNYDTFTV → VSLDVSIVFCLYYIYFN
     135-1098: Missing.

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 1098	1098	Acyl-CoA synthetase family member 4
Regions
	Domain	555 – 626	72	Acyl carrier
Sites
	Binding site	589	1	Phosphopantetheine (covalent) By similarity
Natural variations
	Alternative sequence	1 – 100	100	Missing in isoform 2.
	Alternative sequence	118 – 134	17	KFKSF…DTFTV → VSLDVSIVFCLYYIYFN in isoform 5.
	Alternative sequence	135 – 1098	964	Missing in isoform 5.
	Alternative sequence	831 – 857	27	CYNGL…EDAVK → LAVLYQWTNLFIPVYLTIRA KNIFWFP in isoform 4.
	Alternative sequence	831 – 841	11	CYNGLVYVLKS → KFLNLRFVELN in isoform 3.
	Alternative sequence	842 – 1098	257	Missing in isoform 3.
	Alternative sequence	858 – 1098	241	Missing in isoform 4.
	Natural variant	368	1	K → R: dbSNP rs3796543.
	Natural variant	747	1	A → V: dbSNP rs3796544.
	Natural variant	774	1	V → I: dbSNP rs3796545.
	Natural variant	865	1	T → A: dbSNP rs12498340.
	Natural variant	1030	1	D → Y: dbSNP rs8340.
Experimental info
	Sequence conflict	61	1	I → V in AAF28996. Ref.5
	Sequence conflict	93	1	P → R in AAF28996. Ref.5
	Sequence conflict	167	1	I → R in AAI41825 and AAI42710. Ref.4
	Sequence conflict	309	1	T → A in CAH56130. Ref.3
	Sequence conflict	428	1	D → G in AAQ83120. Ref.1
	Sequence conflict	428	1	D → G in CAH56482. Ref.3
	Sequence conflict	470	1	E → V in CAH56482. Ref.3
	Sequence conflict	489	1	K → Q in CAH56482. Ref.3
	Sequence conflict	498	1	F → L in CAH56482. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: 8553CB7C13EB24E0	FASTA	1,098	122,549
	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 YATPFAFHND NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV YELPGEVFSS PVVLESMLII 1090 GCRDNYVYCL DLLGGNQK
	Isoform 2 [UniParc]. Checksum: D6E3500C30514A48		998	111,372
	10 20 30 40 50 60 MKKCNLKYIL VEKKQINKFK SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE 70 80 90 100 110 120 KYEKEKIKSI SSEHVNEEKA EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ 130 140 150 160 170 180 HFRVLFDITQ EDVLFLASPL TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH 190 200 210 220 230 240 HRVTVLQATP TLLRRFGSQL IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI 250 260 270 280 290 300 FNVYGITEVS SWATIYRIPE KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ 310 320 330 340 350 360 VFLGGRNRVC FLDDEVTVPL GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ 370 380 390 400 410 420 QVAEELQQVE SCAVTWYNQE KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL 430 440 450 460 470 480 PFTSHGKIDV SELNKIYLNY INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES 490 500 510 520 530 540 LFLNSGGDSL KSIRLLSEIE KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK 550 560 570 580 590 600 SCATKRKLSD INQEEASGTS LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG 610 620 630 640 650 660 HCSSACPSDS VSQTNIQNLK GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT QKMELHVRWR 670 680 690 700 710 720 SDTGKCVDAS PLVVIPTFDK SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV 730 740 750 760 770 780 SKCGNFIVVG CYNGLVYVLK SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA 790 800 810 820 830 840 LDIYRKKCVW KSKCGGTVFS SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL 850 860 870 880 890 900 FSSPQCCSQY ICIGCVDGNL LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF 910 920 930 940 950 960 IYCCNMKGHL QWKFETTSRV YATPFAFHND NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV 970 980 990 YELPGEVFSS PVVLESMLII GCRDNYVYCL DLLGGNQK
	Isoform 3 [UniParc]. Checksum: DDAF31A91E9453B3		841	94,282
	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 KFLNLRFVEL N
	Isoform 4 [UniParc]. Checksum: FCF911A56BB00CA7		857	96,217
	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 LAVLYQWTNL 850 FIPVYLTIRA KNIFWFP
	Isoform 5 [UniParc]. Checksum: 3BD16314B7ACB8D5		134	15,311
	10 20 30 40 50 60 MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE 70 80 90 100 110 120 IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF MKKCNLKYIL VEKKQINVSL 130 DVSIVFCLYY IYFN

References

	« Hide 'large scale' referencesShow '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: 15865210] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. 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), VARIANTS VAL-747 AND TYR-1030.
[3]	The German cDNA consortium Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-1098, VARIANT TYR-1030. Tissue: Liver and Small intestine.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5), VARIANT VAL-747. Tissue: Urinary bladder.
[5]	"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. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-164. Tissue: Umbilical cord blood.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY314787 mRNA. Translation: AAQ83120.1. AF516672 mRNA. Translation: AAP76519.1. AY422212 mRNA. Translation: AAR31184.1. BX640635 pre-RNA. Translation: CAH56482.1. Different initiation. BX648853 mRNA. Translation: CAH56130.1. BC015096 mRNA. Translation: AAH15096.1. BC071815 mRNA. Translation: AAH71815.1. BC141824 mRNA. Translation: AAI41825.1. BC142709 mRNA. Translation: AAI42710.1. AF161436 mRNA. Translation: AAF28996.1.
RefSeq	NP_861522.2.
UniGene	Hs.104347
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q4L235.
Genome annotation databases
Ensembl	ENSG00000157426. Homo sapiens. [Contig view]
GeneID	132949.
KEGG	hsa:132949.
Organism-specific databases
HGNC	HGNC:23993. AASDH.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q4L235.
HOVERGEN	Q4L235.
Gene expression databases
ArrayExpress	Q4L235.
CleanEx	HS_AASDH.
Family and domain databases
InterPro	IPR000873. AMP-dep_Synth/Lig. IPR006163. Phsphopanteth_bd. IPR002372. PQQ_repeat. IPR011047. Quino_AlcDHase-like. [Graphical view]
Gene3D	G3DSA:2.140.10.10. Quinoprotein_alc_DH-like. 1 hit.
Pfam	PF00501. AMP-binding. 1 hit. PF00550. PP-binding. 1 hit. PF01011. PQQ. 1 hit. [Graphical view]
PRINTS	PR00154. AMPBINDING.
SMART	SM00564. PQQ. 6 hits. [Graphical view]
PROSITE	PS50075. ACP_DOMAIN. 1 hit. PS00455. AMP_BINDING. 1 hit. [Graphical view]
ProDom	Q4L235. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
ProtoNet	Search...

Entry information

Entry name

ACSF4_HUMAN

Accession

Primary (citable) accession number: Q4L235
Secondary accession number(s): A5D8V3 , A5PL22, Q63HK2, Q63HR7, Q6IPP8, Q6TFZ6, Q7Z5Y3, Q96BW4, Q9P064

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 15, 2008
Last modified:	July 22, 2008
This is version 25 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)