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Q96CM8

- ACSF2_HUMAN

UniProt

Q96CM8 - ACSF2_HUMAN

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Protein

Acyl-CoA synthetase family member 2, mitochondrial

Gene

ACSF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei493 – 4931ATPBy similarity
Binding sitei508 – 5081ATPBy similarity
Binding sitei599 – 5991ATPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi263 – 2719ATPBy similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ligase activity Source: UniProtKB-KW

GO - Biological processi

  1. fatty acid metabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Acyl-CoA synthetase family member 2, mitochondrial (EC:6.2.1.-)
Gene namesi
Name:ACSF2
ORF Names:UNQ493/PRO1009
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:26101. ACSF2.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162375338.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4141MitochondrionSequence AnalysisAdd
BLAST
Chaini42 – 615574Acyl-CoA synthetase family member 2, mitochondrialPRO_0000315793Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei179 – 1791N6-acetyllysineBy similarity
Modified residuei182 – 1821N6-acetyllysine; alternateBy similarity
Modified residuei182 – 1821N6-succinyllysine; alternateBy similarity
Modified residuei340 – 3401N6-acetyllysineBy similarity
Modified residuei398 – 3981N6-acetyllysineBy similarity
Modified residuei478 – 4781N6-succinyllysineBy similarity
Modified residuei510 – 5101N6-acetyllysineBy similarity
Modified residuei544 – 5441N6-acetyllysine; alternateBy similarity
Modified residuei544 – 5441N6-succinyllysine; alternateBy similarity
Modified residuei570 – 5701N6-acetyllysine; alternateBy similarity
Modified residuei570 – 5701N6-succinyllysine; alternateBy similarity
Modified residuei599 – 5991N6-succinyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ96CM8.
PaxDbiQ96CM8.
PeptideAtlasiQ96CM8.
PRIDEiQ96CM8.

Expressioni

Inductioni

By PPARG.1 Publication

Gene expression databases

BgeeiQ96CM8.
CleanExiHS_ACSF2.
ExpressionAtlasiQ96CM8. baseline and differential.
GenevestigatoriQ96CM8.

Organism-specific databases

HPAiHPA024693.

Interactioni

Protein-protein interaction databases

BioGridi123187. 2 interactions.
IntActiQ96CM8. 4 interactions.
STRINGi9606.ENSP00000300441.

Structurei

3D structure databases

ProteinModelPortaliQ96CM8.
SMRiQ96CM8. Positions 72-609.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0318.
GeneTreeiENSGT00760000119304.
HOGENOMiHOG000229999.
HOVERGENiHBG103408.
InParanoidiQ96CM8.
KOiK00666.
PhylomeDBiQ96CM8.
TreeFamiTF313466.

Family and domain databases

InterProiIPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view]
PROSITEiPS00455. AMP_BINDING. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96CM8-1) [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
MAVYVGMLRL GRLCAGSSGV LGARAALSRS WQEARLQGVR FLSSREVDRM
60 70 80 90 100
VSTPIGGLSY VQGCTKKHLN SKTVGQCLET TAQRVPEREA LVVLHEDVRL
110 120 130 140 150
TFAQLKEEVD KAASGLLSIG LCKGDRLGMW GPNSYAWVLM QLATAQAGII
160 170 180 190 200
LVSVNPAYQA MELEYVLKKV GCKALVFPKQ FKTQQYYNVL KQICPEVENA
210 220 230 240 250
QPGALKSQRL PDLTTVISVD APLPGTLLLD EVVAAGSTRQ HLDQLQYNQQ
260 270 280 290 300
FLSCHDPINI QFTSGTTGSP KGATLSHYNI VNNSNILGER LKLHEKTPEQ
310 320 330 340 350
LRMILPNPLY HCLGSVAGTM MCLMYGATLI LASPIFNGKK ALEAISRERG
360 370 380 390 400
TFLYGTPTMF VDILNQPDFS SYDISTMCGG VIAGSPAPPE LIRAIINKIN
410 420 430 440 450
MKDLVVAYGT TENSPVTFAH FPEDTVEQKA ESVGRIMPHT EARIMNMEAG
460 470 480 490 500
TLAKLNTPGE LCIRGYCVML GYWGEPQKTE EAVDQDKWYW TGDVATMNEQ
510 520 530 540 550
GFCKIVGRSK DMIIRGGENI YPAELEDFFH THPKVQEVQV VGVKDDRMGE
560 570 580 590 600
EICACIRLKD GEETTVEEIK AFCKGKISHF KIPKYIVFVT NYPLTISGKI
610
QKFKLREQME RHLNL
Length:615
Mass (Da):68,125
Last modified:January 15, 2008 - v2
Checksum:iA3356EEA7C14730B
GO
Isoform 2 (identifier: Q96CM8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-43: S → SARGGMEAGRQRISVPSSFTASAAAH

Note: No experimental confirmation available.

Show »
Length:640
Mass (Da):70,623
Checksum:iDD1F4E5DEBDE9CE0
GO
Isoform 3 (identifier: Q96CM8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-158: Missing.

Note: No experimental confirmation available.

Show »
Length:602
Mass (Da):66,798
Checksum:iCF7D0940C1611AC2
GO
Isoform 4 (identifier: Q96CM8-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-160: Missing.

Note: No experimental confirmation available.

Show »
Length:455
Mass (Da):50,880
Checksum:i61FC83503081C5C9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751G → V.1 Publication
Corresponds to variant rs17856448 [ dbSNP | Ensembl ].
VAR_038304
Natural varianti316 – 3161V → M.
Corresponds to variant rs3744523 [ dbSNP | Ensembl ].
VAR_038305

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 160160Missing in isoform 4. 1 PublicationVSP_055803Add
BLAST
Alternative sequencei43 – 431S → SARGGMEAGRQRISVPSSFT ASAAAH in isoform 2. 1 PublicationVSP_055804
Alternative sequencei146 – 15813Missing in isoform 3. 1 PublicationVSP_055805Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358660 mRNA. Translation: AAQ89023.1.
AK024573 mRNA. Translation: BAB14930.1.
AK294205 mRNA. Translation: BAG57517.1.
AK295258 mRNA. Translation: BAG58247.1.
AK300625 mRNA. Translation: BAG62317.1.
AC004707 Genomic DNA. No translation available.
AC021491 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94612.1.
BC012053 mRNA. Translation: AAH12053.1.
BC014123 mRNA. Translation: AAH14123.1.
CCDSiCCDS11567.1. [Q96CM8-1]
CCDS74103.1. [Q96CM8-2]
CCDS74104.1. [Q96CM8-3]
RefSeqiNP_001275897.1. NM_001288968.1. [Q96CM8-2]
NP_001275898.1. NM_001288969.1. [Q96CM8-3]
NP_001275899.1. NM_001288970.1.
NP_001275900.1. NM_001288971.1. [Q96CM8-4]
NP_001275901.1. NM_001288972.1. [Q96CM8-4]
NP_079425.3. NM_025149.5. [Q96CM8-1]
UniGeneiHs.288959.

Genome annotation databases

EnsembliENST00000300441; ENSP00000300441; ENSG00000167107. [Q96CM8-1]
ENST00000427954; ENSP00000401831; ENSG00000167107. [Q96CM8-2]
ENST00000502667; ENSP00000421884; ENSG00000167107. [Q96CM8-3]
GeneIDi80221.
KEGGihsa:80221.
UCSCiuc002iqu.2. human. [Q96CM8-1]

Polymorphism databases

DMDMi166198367.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358660 mRNA. Translation: AAQ89023.1 .
AK024573 mRNA. Translation: BAB14930.1 .
AK294205 mRNA. Translation: BAG57517.1 .
AK295258 mRNA. Translation: BAG58247.1 .
AK300625 mRNA. Translation: BAG62317.1 .
AC004707 Genomic DNA. No translation available.
AC021491 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94612.1 .
BC012053 mRNA. Translation: AAH12053.1 .
BC014123 mRNA. Translation: AAH14123.1 .
CCDSi CCDS11567.1. [Q96CM8-1 ]
CCDS74103.1. [Q96CM8-2 ]
CCDS74104.1. [Q96CM8-3 ]
RefSeqi NP_001275897.1. NM_001288968.1. [Q96CM8-2 ]
NP_001275898.1. NM_001288969.1. [Q96CM8-3 ]
NP_001275899.1. NM_001288970.1.
NP_001275900.1. NM_001288971.1. [Q96CM8-4 ]
NP_001275901.1. NM_001288972.1. [Q96CM8-4 ]
NP_079425.3. NM_025149.5. [Q96CM8-1 ]
UniGenei Hs.288959.

3D structure databases

ProteinModelPortali Q96CM8.
SMRi Q96CM8. Positions 72-609.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123187. 2 interactions.
IntActi Q96CM8. 4 interactions.
STRINGi 9606.ENSP00000300441.

Polymorphism databases

DMDMi 166198367.

Proteomic databases

MaxQBi Q96CM8.
PaxDbi Q96CM8.
PeptideAtlasi Q96CM8.
PRIDEi Q96CM8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000300441 ; ENSP00000300441 ; ENSG00000167107 . [Q96CM8-1 ]
ENST00000427954 ; ENSP00000401831 ; ENSG00000167107 . [Q96CM8-2 ]
ENST00000502667 ; ENSP00000421884 ; ENSG00000167107 . [Q96CM8-3 ]
GeneIDi 80221.
KEGGi hsa:80221.
UCSCi uc002iqu.2. human. [Q96CM8-1 ]

Organism-specific databases

CTDi 80221.
GeneCardsi GC17P048503.
HGNCi HGNC:26101. ACSF2.
HPAi HPA024693.
MIMi 610465. gene.
neXtProti NX_Q96CM8.
PharmGKBi PA162375338.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0318.
GeneTreei ENSGT00760000119304.
HOGENOMi HOG000229999.
HOVERGENi HBG103408.
InParanoidi Q96CM8.
KOi K00666.
PhylomeDBi Q96CM8.
TreeFami TF313466.

Miscellaneous databases

ChiTaRSi ACSF2. human.
GenomeRNAii 80221.
NextBioi 35471556.
PROi Q96CM8.
SOURCEi Search...

Gene expression databases

Bgeei Q96CM8.
CleanExi HS_ACSF2.
ExpressionAtlasi Q96CM8. baseline and differential.
Genevestigatori Q96CM8.

Family and domain databases

InterProi IPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view ]
Pfami PF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view ]
PROSITEi PS00455. AMP_BINDING. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4).
    Tissue: Adipose tissue, Amygdala and Caudate nucleus.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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] (ISOFORM 1), VARIANT VAL-75.
    Tissue: Kidney and Skin.
  6. "Identification of novel PPARgamma target genes in primary human adipocytes."
    Perera R.J., Marcusson E.G., Koo S., Kang X., Kim Y., White N., Dean N.M.
    Gene 369:90-99(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INDUCTION.
  7. "Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome."
    Watkins P.A., Maiguel D., Jia Z., Pevsner J.
    J. Lipid Res. 48:2736-2750(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, ENZYME ACTIVITY.

Entry informationi

Entry nameiACSF2_HUMAN
AccessioniPrimary (citable) accession number: Q96CM8
Secondary accession number(s): B4DFQ6
, B4DHT5, B4DUF5, Q9H7G2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: October 29, 2014
This is version 94 of the entry and version 2 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 17
    Human chromosome 17: 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

External Data

Dasty 3