Gene/Proteome Database (LMPD)
LMPD ID
LMP004286
Gene ID
Species
Homo sapiens (Human)
Gene Name
fatty acid 2-hydroxylase
Gene Symbol
Synonyms
FAAH; FAH1; FAXDC1; SCS7; SPG35
Alternate Names
fatty acid 2-hydroxylase; fatty acid alpha-hydroxylase; fatty acid hydroxylase domain containing 1; spastic paraplegia 35 (autosomal recessive)
Chromosome
16
Map Location
16q23
EC Number
1.-.-.-
Summary
This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
Orthologs
Proteins
| fatty acid 2-hydroxylase | |
|---|---|
| Refseq ID | NP_077282 |
| Protein GI | 205360949 |
| UniProt ID | Q7L5A8 |
| mRNA ID | NM_024306 |
| Length | 372 |
| RefSeq Status | REVIEWED |
| MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISADLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHMKPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTVFAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFHTLTPEKPHLKTQ | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IEA:UniProtKB-KW | C | endoplasmic reticulum |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0080132 | IEA:Ensembl | F | fatty acid alpha-hydroxylase activity |
| GO:0020037 | IEA:InterPro | F | heme binding |
| GO:0005506 | IEA:InterPro | F | iron ion binding |
| GO:0008219 | IEA:UniProtKB-KW | P | cell death |
| GO:0032286 | IEA:Ensembl | P | central nervous system myelin maintenance |
| GO:0006633 | IEA:UniProtKB-KW | P | fatty acid biosynthetic process |
| GO:0030258 | IEA:Ensembl | P | lipid modification |
| GO:0032287 | IEA:Ensembl | P | peripheral nervous system myelin maintenance |
| GO:0042127 | IEA:Ensembl | P | regulation of cell proliferation |
| GO:0042634 | IEA:Ensembl | P | regulation of hair cycle |
| GO:0001949 | IEA:Ensembl | P | sebaceous gland cell differentiation |
| GO:0006665 | IEA:InterPro | P | sphingolipid metabolic process |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L5A8-1; Sequence=Displayed; Name=2; IsoId=Q7L5A8-2; Sequence=VSP_056135; Note=No experimental confirmation available.; |
| Cofactor | Name=Fe cation; Xref=ChEBI |
| Disease | Spastic paraplegia 35, autosomal recessive (SPG35) [MIM |
| Domain | The histidine box domains may contain the active site and/or be involved in metal ion binding. |
| Function | Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. |
| Induction | Up-regulated during keratinocyte differentiation. |
| Sequence Caution | Sequence=AAC23496.1; Type=Erroneous gene model prediction; Evidence= ; |
| Similarity | Belongs to the sterol desaturase family. SCS7 subfamily. |
| Similarity | Contains 1 cytochrome b5 heme-binding domain. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . Microsome membrane ; Multi-pass membrane protein . |
| Tissue Specificity | Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney. |
Identical and Related Proteins
Unique RefSeq proteins for LMP004286 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 205360949 | RefSeq | NP_077282 | 372 | fatty acid 2-hydroxylase |
Identical Sequences to LMP004286 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:205360949 | GenBank | AAH02679.2 | 372 | Fatty acid 2-hydroxylase [Homo sapiens] |
| GI:205360949 | GenBank | AAH17049.2 | 372 | Fatty acid 2-hydroxylase [Homo sapiens] |
| GI:205360949 | GenBank | AAH04263.2 | 372 | Fatty acid 2-hydroxylase [Homo sapiens] |
| GI:205360949 | GenBank | EAW95678.1 | 372 | fatty acid 2-hydroxylase, isoform CRA_b [Homo sapiens] |
| GI:205360949 | SwissProt | Q7L5A8.1 | 372 | RecName: Full=Fatty acid 2-hydroxylase; AltName: Full=Fatty acid alpha-hydroxylase [Homo sapiens] |
Related Sequences to LMP004286 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:205360949 | DBBJ | BAB71632.1 | 372 | unnamed protein product [Homo sapiens] |
| GI:205360949 | DBBJ | BAE01931.1 | 372 | unnamed protein product [Macaca fascicularis] |
| GI:205360949 | GenBank | ACM81916.1 | 388 | Sequence 7414 from patent US 6812339 |
| GI:205360949 | RefSeq | NP_001181351.1 | 372 | fatty acid 2-hydroxylase [Macaca mulatta] |
| GI:205360949 | RefSeq | NP_001270612.1 | 372 | fatty acid 2-hydroxylase [Macaca fascicularis] |
| GI:205360949 | SwissProt | Q4R4P4.1 | 372 | RecName: Full=Fatty acid 2-hydroxylase; AltName: Full=Fatty acid alpha-hydroxylase [Macaca fascicularis] |