Q9H6Q4 (NARFL_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 92.
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: Cytosolic Fe-S cluster assembly factor NARFL Alternative name(s): Iron-only hydrogenase-like protein 1 Short name=IOP1 Nuclear prelamin A recognition factor-like protein Protein related to Narf | ||||
| Gene names |
| ||||
| 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 | 476 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect. Ref.8 Ref.9 |
| Subunit structure | |
| Tissue specificity | Widely expressed. Ref.8 |
| Sequence similarities | Belongs to the NARF family. |
| Sequence caution | The sequence AAK61251.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | 4Fe-4S Iron Iron-sulfur Metal-binding |
| PTM | Acetylation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | iron-sulfur cluster assembly Inferred from mutant phenotype Ref.9. Source: UniProtKB oxygen homeostasisInferred from direct assay Ref.8. Source: HGNC regulation of transcription, DNA-dependentInferred from direct assay Ref.8. Source: HGNC response to hypoxiaInferred from direct assay Ref.8. Source: HGNC small molecule metabolic processTraceable author statement. Source: Reactome |
| Cellular_component | CIA complex Inferred from direct assay Ref.13Ref.12. Source: UniProtKB |
| Molecular_function | 4 iron, 4 sulfur cluster binding Inferred from electronic annotation. Source: UniProtKB-KW metal ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H6Q4-1) 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: Q9H6Q4-2) The sequence of this isoform differs from the canonical sequence as follows: 1-243: Missing. | ||||||
| Isoform 3 (identifier: Q9H6Q4-3) The sequence of this isoform differs from the canonical sequence as follows: 1-102: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.10 | ||||||
| Chain | 2 – 476 | 475 | Cytosolic Fe-S cluster assembly factor NARFL | PRO_0000288485 | |||||
Sites | |||||||||
| Metal binding | 24 | 1 | Iron-sulfur 1 (4Fe-4S) Potential | ||||||
| Metal binding | 71 | 1 | Iron-sulfur 1 (4Fe-4S) Potential | ||||||
| Metal binding | 74 | 1 | Iron-sulfur 1 (4Fe-4S) Potential | ||||||
| Metal binding | 77 | 1 | Iron-sulfur 1 (4Fe-4S) Potential | ||||||
| Metal binding | 190 | 1 | Iron-sulfur 2 (4Fe-4S) Potential | ||||||
| Metal binding | 246 | 1 | Iron-sulfur 2 (4Fe-4S) Potential | ||||||
| Metal binding | 395 | 1 | Iron-sulfur 2 (4Fe-4S) Potential | ||||||
| Metal binding | 399 | 1 | Iron-sulfur 2 (4Fe-4S) Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 243 | 243 | Missing in isoform 2. | VSP_025694 | |||||
| Alternative sequence | 1 – 102 | 102 | Missing in isoform 3. | VSP_025695 | |||||
| Natural variant | 38 | 1 | V → M. Corresponds to variant rs8045850 [ dbSNP | Ensembl ]. | VAR_053911 | |||||
| Natural variant | 444 | 1 | H → R. Corresponds to variant rs7188554 [ dbSNP | Ensembl ]. | VAR_053912 | |||||
Experimental info | |||||||||
| Sequence conflict | 205 | 1 | I → T in BAD96725. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A comparison of Narf, HPRN and Nar1p in human and yeast cells." Barton R.M., Worman H.J. Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Brain. |
| [3] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Small intestine. |
| [4] | "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16." Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R. Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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). Tissue: Brain. |
| [8] | "IOP1, a novel hydrogenase-like protein that modulates hypoxia-inducible factor-1alpha activity." Huang J., Song D., Flores A., Zhao Q., Mooney S.M., Shaw L.M., Lee F.S. Biochem. J. 401:341-352(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| [9] | "A role for IOP1 in mammalian cytosolic iron-sulfur protein biogenesis." Song D., Lee F.S. J. Biol. Chem. 283:9231-9238(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [10] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY, CLEAVAGE OF INITIATOR METHIONINE. Tissue: Cervix carcinoma. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity." Stehling O., Vashisht A.A., Mascarenhas J., Jonsson Z.O., Sharma T., Netz D.J., Pierik A.J., Wohlschlegel J.A., Lill R. Science 337:195-199(2012) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE CIA COMPLEX. |
| [13] | "MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism." Gari K., Leon Ortiz A.M., Borel V., Flynn H., Skehel J.M., Boulton S.J. Science 337:243-245(2012) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE CIA COMPLEX. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY129231 mRNA. Translation: AAM98737.1. AK025641 mRNA. Translation: BAB15199.1. AK025861 mRNA. Translation: BAB15261.1. AK095675 mRNA. Translation: BAG53105.1. AK223005 mRNA. Translation: BAD96725.1. AE006464 Genomic DNA. Translation: AAK61251.1. Sequence problems. Z98258 Genomic DNA. Translation: CAM26480.1. CH471112 Genomic DNA. Translation: EAW85723.1. BC030248 mRNA. Translation: AAH30248.1. BC129940 mRNA. Translation: AAI29941.1. |
| IPI | IPI00008348. IPI00645749. IPI00847883. |
| RefSeq | NP_071938.1. NM_022493.1. |
| UniGene | Hs.513247. |
3D structure databases | |
| ProteinModelPortal | Q9H6Q4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000251588. |
PTM databases | |
| PhosphoSite | Q9H6Q4. |
Polymorphism databases | |
| DMDM | 74733617. |
Proteomic databases | |
| PaxDb | Q9H6Q4. |
| PeptideAtlas | Q9H6Q4. |
| PRIDE | Q9H6Q4. |
Protocols and materials databases | |
| DNASU | 64428. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000251588; ENSP00000251588; ENSG00000103245. ENST00000540986; ENSP00000444008; ENSG00000103245. ENST00000568545; ENSP00000457058; ENSG00000103245. |
| GeneID | 64428. |
| KEGG | hsa:64428. |
| UCSC | uc002cjp.3. human. |
Organism-specific databases | |
| CTD | 64428. |
| GeneCards | GC16M000785. |
| HGNC | HGNC:14179. NARFL. |
| HPA | HPA040851. |
| MIM | 611118. gene. |
| neXtProt | NX_Q9H6Q4. |
| PharmGKB | PA128394707. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG4624. |
| HOGENOM | HOG000191744. |
| HOVERGEN | HBG055005. |
| OMA | VISIMPC. |
| OrthoDB | EOG4N5VWS. |
Gene expression databases | |
| ArrayExpress | Q9H6Q4. |
| Bgee | Q9H6Q4. |
| CleanEx | HS_NARFL. |
| Genevestigator | Q9H6Q4. |
Family and domain databases | |
| Gene3D | 4.10.260.20. 1 hit. |
| InterPro | IPR009016. Fe_hydrogenase. IPR004108. Fe_hydrogenase_lsu_C. IPR003149. Fe_hydrogenase_ssu-like. [Graphical view] |
| Pfam | PF02906. Fe_hyd_lg_C. 1 hit. PF02256. Fe_hyd_SSU. 1 hit. [Graphical view] |
| SMART | SM00902. Fe_hyd_SSU. 1 hit. [Graphical view] |
| SUPFAM | SSF53920. Fe_hydrog. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 64428. |
| NextBio | 66437. |
| SOURCE | Search... |
Entry information
| Entry name | NARFL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H6Q4 Secondary accession number(s): A1L385 Q9H6J8 | ||||||||
| 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 16 Human chromosome 16: 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
