Long-chain fatty acid transport protein 4

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.</p><p><a href='../manual/np_bind' target='_top'>More...</a></p>Nucleotide bindingi	243 – 254	12	AMPSequence analysis			Add BLAST

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• fatty acid transporter activity Source: Reactome
• long-chain fatty acid-CoA ligase activity Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 22022213

• nucleotide binding Source: UniProtKB-KW
• very long-chain fatty acid-CoA ligase activity Source: Ensembl

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• fatty acid transport Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 9878842

• lipid metabolic process Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 9878842

• long-chain fatty acid import Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 22022213

• long-chain fatty acid metabolic process Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 22022213

• long-chain fatty acid transport Source: Reactome
• medium-chain fatty acid transport Source: Ensembl
• response to nutrient Source: Ensembl
• skin development Source: Ensembl
• transport Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 9878842

• very long-chain fatty acid catabolic process Source: Ensembl

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Molecular functionⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Biological processⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Ligandⁱ

Enzyme and pathway databases

Protein family/group databases

Chemistry

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Topology

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.</p><p><a href='../manual/transmem' target='_top'>More...</a></p>Transmembranei	20 – 42	23	HelicalSequence analysis			Add BLAST
<p>Describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.</p><p><a href='../manual/transmem' target='_top'>More...</a></p>Transmembranei	139 – 156	18	HelicalSequence analysis			Add BLAST

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

• brush border membrane Source: Ensembl
• endoplasmic reticulum membrane Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 22022213

• integral component of membrane Source: UniProtKB-KW
• membrane Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 19946888

• microvillus Source: Ensembl
• plasma membrane Source: Reactome

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>Provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Ichthyosis prematurity syndrome (IPS)2 Publications

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.8

  "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome."
  Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J.
  Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583.
• Ref.9

  "A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis."
  Morice-Picard F., Leaute-Labreze C., Decor A., Boralevi F., Lacombe D., Taieb A., Fischer J.
  Am. J. Med. Genet. A 152:2664-2665(2010) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT IPS CYS-374.

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations.

See also OMIM:608649

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	92 – 92	1	A → T in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853132 [ dbSNP | Ensembl ].		VAR_063192
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	247 – 247	1	S → P in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853133 [ dbSNP | Ensembl ].		VAR_063193
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	300 – 300	1	Q → R in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853134 [ dbSNP | Ensembl ].		VAR_063194
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	374 – 374	1	R → C in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.9 "A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis." Morice-Picard F., Leaute-Labreze C., Decor A., Boralevi F., Lacombe D., Taieb A., Fischer J. Am. J. Med. Genet. A 152:2664-2665(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT IPS CYS-374. Corresponds to variant rs768495407 [ dbSNP | Ensembl ].		VAR_064500
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	583 – 583	1	R → H in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853135 [ dbSNP | Ensembl ].		VAR_063195

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseaseⁱ

Organism-specific databases

Chemistry

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	1 – 643	643	Long-chain fatty acid transport protein 4		PRO_0000193209	Add BLAST

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br />Examples: <a href="/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="/uniprot/O14734#expression"><span class="caps">O14734</span></a></p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

Protein-protein interaction databases

Chemistry

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (2)ⁱ

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry describes 2<p>Lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.</p><p><a href='../manual/alternative_products' target='_top'>More...</a></p> isoformsⁱ produced by alternative splicing. AlignAdd to basketAdded to basket

        10         20         30         40         50
MLLGASLVGV LLFSKLVLKL PWTQVGFSLL FLYLGSGGWR FIRVFIKTIR 
        60         70         80         90        100
RDIFGGLVLL KVKAKVRQCL QERRTVPILF ASTVRRHPDK TALIFEGTDT 
       110        120        130        140        150
HWTFRQLDEY SSSVANFLQA RGLASGDVAA IFMENRNEFV GLWLGMAKLG 
       160        170        180        190        200
VEAALINTNL RRDALLHCLT TSRARALVFG SEMASAICEV HASLDPSLSL 
       210        220        230        240        250
FCSGSWEPGA VPPSTEHLDP LLKDAPKHLP SCPDKGFTDK LFYIYTSGTT 
       260        270        280        290        300
GLPKAAIVVH SRYYRMAALV YYGFRMRPND IVYDCLPLYH SAGNIVGIGQ 
       310        320        330        340        350
CLLHGMTVVI RKKFSASRFW DDCIKYNCTI VQYIGELCRY LLNQPPREAE 
       360        370        380        390        400
NQHQVRMALG NGLRQSIWTN FSSRFHIPQV AEFYGATECN CSLGNFDSQV 
       410        420        430        440        450
GACGFNSRIL SFVYPIRLVR VNEDTMELIR GPDGVCIPCQ PGEPGQLVGR 
       460        470        480        490        500
IIQKDPLRRF DGYLNQGANN KKIAKDVFKK GDQAYLTGDV LVMDELGYLY 
       510        520        530        540        550
FRDRTGDTFR WKGENVSTTE VEGTLSRLLD MADVAVYGVE VPGTEGRAGM 
       560        570        580        590        600
AAVASPTGNC DLERFAQVLE KELPLYARPI FLRLLPELHK TGTYKFQKTE 
       610        620        630        640 
LRKEGFDPAI VKDPLFYLDA QKGRYVPLDQ EAYSRIQAGE EKL 

        10         20         30         40         50
MPLTLSTLLQ PGRIWTGRRA AEPTPGHNAA WSLSGGGAAV LQAGAETALD 
        60         70         80         90        100
PGGILPVVPL LGIWRLALHP GLHQDHQAYL TGDVLVMDEL GYLYFRDRTG 
       110        120        130        140        150
DTFRWKGENV STTEVEGTLS RLLDMADVAV YGVEVPGTEG RAGMAAVASP 
       160        170        180        190        200
TGNCDLERFA QVLEKELPLY ARPIFLRLLP ELHKTGTYKF QKTELRKEGF 
       210        220        230 
DPAIVKDPLF YLDAQKGRYV PLDQEAYSRI QAGEEKL            

<p>Reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.</p><p><a href='../manual/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	194 – 194	1	L → P in AAD11623 (PubMed:9878842).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	605 – 605	1	G → A in AAD11623 (PubMed:9878842).Curated

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	92 – 92	1	A → T in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853132 [ dbSNP | Ensembl ].		VAR_063192
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	209 – 209	1	G → S Correlates with lower body mass index, triglyceride concentrations, systolic blood pressure, insulin concentrations and homeostasis model assessment index. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "Genetic and structural evaluation of fatty acid transport protein-4 in relation to markers of the insulin resistance syndrome." Gertow K., Bellanda M., Eriksson P., Boquist S., Hamsten A., Sunnerhagen M., Fisher R.M. J. Clin. Endocrinol. Metab. 89:392-399(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-209. Corresponds to variant rs2240953 [ dbSNP | Ensembl ].		VAR_023783
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	247 – 247	1	S → P in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853133 [ dbSNP | Ensembl ].		VAR_063193
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	300 – 300	1	Q → R in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853134 [ dbSNP | Ensembl ].		VAR_063194
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	374 – 374	1	R → C in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.9 "A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis." Morice-Picard F., Leaute-Labreze C., Decor A., Boralevi F., Lacombe D., Taieb A., Fischer J. Am. J. Med. Genet. A 152:2664-2665(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT IPS CYS-374. Corresponds to variant rs768495407 [ dbSNP | Ensembl ].		VAR_064500
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	583 – 583	1	R → H in IPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." Klar J., Schweiger M., Zimmerman R., Zechner R., Li H., Torma H., Vahlquist A., Bouadjar B., Dahl N., Fischer J. Am. J. Hum. Genet. 85:248-253(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS IPS THR-92; PRO-247; ARG-300 AND HIS-583. Corresponds to variant rs137853135 [ dbSNP | Ensembl ].		VAR_063195

Alternative sequence

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	1 – 76	76	MLLGA…ERRTV → MPLTLSTLLQPGRIWTGRRA AEPTPGHNAAWSLSGGGAAV LQAGAETALDPGGILPVVPL LGIWRLALHPGLHQDH in isoform 2. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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 1 AND 2).		VSP_055808	Add BLAST
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	77 – 482	406	Missing in isoform 2. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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 1 AND 2).		VSP_055809	Add BLAST

Sequence databases

Genome annotation databases

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityⁱ

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Miscellaneous

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

Documents

1. Human chromosome 9
   Human chromosome 9: 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

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ