Reviewed,
UniProtKB/Swiss-Prot Q4L235 (ACSF4_HUMAN)
Last modified
June 16, 2009.
Version 34.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Acyl-CoA synthetase family member 4 EC=6.2.1.- Alternative name(s): Protein NRPS998 | ||||||
| Gene names |
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| 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. Ref.1 |
| 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 | ATP-binding Nucleotide-binding Phosphopantetheine |
| Molecular function | Ligase |
| Gene Ontology (GO) | |
| Biological process | fatty acid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW acid-thiol ligase activityInferred from sequence or structural similarity. Source: UniProtKB acyl carrier activityInferred from electronic annotation. Source: InterPro cofactor bindingInferred from electronic annotation. Source: InterPro |
| 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. | ||||||
| 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. | ||||||
| Isoform 5 (identifier: Q4L235-5) The sequence of this isoform differs from the canonical sequence as follows: 118-134: KFKSFHETLLNYDTFTV → VSLDVSIVFCLYYIYFN 135-1098: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1098 | 1098 | Acyl-CoA synthetase family member 4 | PRO_0000315803 | |||||
Regions | |||||||||
| Domain | 555 – 626 | 72 | Acyl carrier | ||||||
| Nucleotide binding | 198 – 206 | 9 | ATP By similarity | ||||||
Sites | |||||||||
| Binding site | 428 | 1 | ATP By similarity | ||||||
| Binding site | 442 | 1 | ATP By similarity | ||||||
| Binding site | 527 | 1 | ATP By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 589 | 1 | O-(pantetheine 4'-phosphoryl)serine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 100 | 100 | Missing in isoform 2. | VSP_030707 | |||||
| Alternative sequence | 118 – 134 | 17 | KFKSF…DTFTV → VSLDVSIVFCLYYIYFN in isoform 5. | VSP_030708 | |||||
| Alternative sequence | 135 – 1098 | 964 | Missing in isoform 5. | VSP_030709 | |||||
| Alternative sequence | 831 – 857 | 27 | CYNGL…EDAVK → LAVLYQWTNLFIPVYLTIRA KNIFWFP in isoform 4. | VSP_030710 | |||||
| Alternative sequence | 831 – 841 | 11 | CYNGLVYVLKS → KFLNLRFVELN in isoform 3. | VSP_030711 | |||||
| Alternative sequence | 842 – 1098 | 257 | Missing in isoform 3. | VSP_030712 | |||||
| Alternative sequence | 858 – 1098 | 241 | Missing in isoform 4. | VSP_030713 | |||||
| Natural variant | 368 | 1 | K → R: dbSNP rs3796543. | VAR_038309 | |||||
| Natural variant | 747 | 1 | A → V: dbSNP rs3796544. Ref.2 Ref.4 | VAR_038310 | |||||
| Natural variant | 774 | 1 | V → I: dbSNP rs3796545. | VAR_038311 | |||||
| Natural variant | 865 | 1 | T → A: dbSNP rs12498340. | VAR_038312 | |||||
| Natural variant | 1030 | 1 | D → Y: dbSNP rs8340. Ref.2 Ref.3 | VAR_038313 | |||||
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. Ref.4 | ||||||
| Sequence conflict | 167 | 1 | I → R in 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
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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: 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 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., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] 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.  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 | |
|---|---|
| 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. 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. | |
| IPI | IPI00156856. IPI00419992. IPI00879043. IPI00879228. IPI00880184. |
| 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 | |
| GeneCards | GC04M056899. |
| HGNC | HGNC:23993. AASDH. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q4L235. |
| HOVERGEN | Q4L235. |
Enzyme and pathway databases | |
| BRENDA | 1.2.1.31. 247. |
Gene expression databases | |
| ArrayExpress | Q4L235. |
| Bgee | Q4L235. |
| CleanEx | HS_AASDH. |
Family and domain databases | |
| InterPro | IPR009081. Acyl_carrier_prot-like. IPR000873. AMP-dep_Synth/Lig. IPR006163. Phsphopanteth_bd. IPR018391. PQQ_beta_propeller_repeat. IPR002372. PQQ_repeat. IPR011047. Quino_AlcDH-like. [Graphical view] |
| Gene3D | G3DSA:2.140.10.10. Quinoprotein_alc_DH-like. 1 hit. |
| Pfam | PF00501. AMP-binding. 2 hits. PF00550. PP-binding. 1 hit. PF01011. PQQ. 1 hit. [Graphical view] |
| SMART | SM00564. PQQ. 6 hits. [Graphical view] |
| PROSITE | PS50075. ACP_DOMAIN. 1 hit. PS00455. AMP_BINDING. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 83164. |
Entry information
| Entry name | ACSF4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q4L235 Secondary accession number(s): A5D8V3 Q9P064 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |
