Q4L235 (ACSF4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 71.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Acyl-CoA synthetase family member 4 EC=6.2.1.- Alternative name(s): Aminoadipate-semialdehyde dehydrogenase Protein NRPS998 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| 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. |
| Protein existence | Evidence 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
| Keywords | |
|---|---|
| Biological process | Fatty acid metabolism Lipid metabolism |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | ATP-binding Nucleotide-binding Phosphopantetheine |
| Molecular function | Ligase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | fatty acid metabolic process Inferred from sequence or structural similarity. Source: UniProtKB |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW acid-thiol ligase activityInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
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 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 | ||||||
| Modified residue | 649 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 100 | 100 | Missing in isoform 2. | VSP_030707 | |||||
| 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 | 61 | 1 | I → V. Ref.6 Corresponds to variant rs34543011 [ dbSNP | Ensembl ]. | VAR_061008 | |||||
| Natural variant | 93 | 1 | P → R. Ref.6 Corresponds to variant rs34228795 [ dbSNP | Ensembl ]. | VAR_061009 | |||||
| Natural variant | 368 | 1 | K → R. Corresponds to variant rs3796543 [ dbSNP | Ensembl ]. | VAR_038309 | |||||
| Natural variant | 747 | 1 | A → V. Ref.2 Ref.5 Corresponds to variant rs3796544 [ dbSNP | Ensembl ]. | VAR_038310 | |||||
| Natural variant | 774 | 1 | V → I. Corresponds to variant rs3796545 [ dbSNP | Ensembl ]. | VAR_038311 | |||||
| Natural variant | 865 | 1 | T → A. Corresponds to variant rs12498340 [ dbSNP | Ensembl ]. | VAR_038312 | |||||
| Natural variant | 1030 | 1 | Y → D. Ref.1 Corresponds to variant rs8340 [ dbSNP | Ensembl ]. | VAR_038313 | |||||
Experimental info | |||||||||
| Sequence conflict | 167 | 1 | I → R in AAI41825. Ref.5 | ||||||
| Sequence conflict | 167 | 1 | I → R in AAI42710. Ref.5 | ||||||
| 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] [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. 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. 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, MASS SPECTROMETRY. |
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. |
| IPI | IPI00419992. IPI00879043. IPI00879228. IPI00880184. |
| RefSeq | NP_861522.2. NM_181806.2. |
| UniGene | Hs.104347. |
3D structure databases | |
| ProteinModelPortal | Q4L235. |
| SMR | Q4L235. Positions 130-539, 758-1095. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q4L235. |
Polymorphism databases | |
| DMDM | 269849683. |
Proteomic databases | |
| PaxDb | Q4L235. |
| PRIDE | Q4L235. |
Protocols and materials databases | |
| DNASU | 132949. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000205214; ENSP00000205214; ENSG00000157426. ENST00000451613; ENSP00000409656; ENSG00000157426. ENST00000502617; ENSP00000421171; ENSG00000157426. ENST00000513376; ENSP00000423760; ENSG00000157426. |
| GeneID | 132949. |
| KEGG | hsa:132949. |
| UCSC | uc003hbn.3. human. uc003hbp.3. human. uc010ihc.3. human. |
Organism-specific databases | |
| CTD | 132949. |
| GeneCards | GC04M057204. |
| H-InvDB | HIX0024559. |
| HGNC | HGNC:23993. AASDH. |
| HPA | HPA036473. |
| MIM | 614365. gene. |
| neXtProt | NX_Q4L235. |
| PharmGKB | PA162375178. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1520. |
| HOVERGEN | HBG057704. |
| InParanoid | Q4L235. |
| KO | K00142. |
| OMA | TMRATGD. |
| OrthoDB | EOG415GCV. |
| PhylomeDB | Q4L235. |
Enzyme and pathway databases | |
| BRENDA | 1.2.1.31. 2681. |
Gene expression databases | |
| ArrayExpress | Q4L235. |
| Bgee | Q4L235. |
| CleanEx | HS_AASDH. |
| Genevestigator | Q4L235. |
Family and domain databases | |
| Gene3D | 1.10.1200.10. 1 hit. 2.140.10.10. 1 hit. |
| InterPro | IPR026897. ACSF4. IPR009081. 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] |
| PANTHER | PTHR24095:SF18. PTHR24095:SF18. 1 hit. |
| Pfam | PF00501. AMP-binding. 1 hit. PF00550. PP-binding. 1 hit. [Graphical view] |
| SMART | SM00564. PQQ. 6 hits. [Graphical view] |
| SUPFAM | SSF50998. Quin_alc_DH_like. 1 hit. |
| PROSITE | PS50075. ACP_DOMAIN. 1 hit. PS00455. AMP_BINDING. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | AASDH. human. |
| GenomeRNAi | 132949. |
| NextBio | 83164. |
| SOURCE | Search... |
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 program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
