Q9H6Q4 (NARFL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names 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

Name:	NARFL
Synonyms:	PRN

Organism

Homo sapiens (Human)

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.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the cytosolic iron-sulfur (Fe/S) protein assembly machinery. Required for maturation of extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect. Ref.8 Ref.9
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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	iron-sulfur cluster assembly Inferred from mutant phenotype Ref.9. Source: UniProtKB oxygen homeostasis Inferred from direct assay Ref.8. Source: HGNC regulation of transcription, DNA-dependent Inferred from direct assay Ref.8. Source: HGNC response to hypoxia Inferred from direct assay Ref.8. Source: HGNC
Molecular function	4 iron, 4 sulfur cluster binding Inferred from electronic annotation. Source: UniProtKB-KW metal ion binding Inferred 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
	Chain	1 – 476	476	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
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

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 88A019DA4D7988EA	FASTA	476	53,020
	10 20 30 40 50 60 MASPFSGALQ LTDLDDFIGP SQECIKPVKV EKRAGSGVAK IRIEDDGSYF QINQDGGTRR 70 80 90 100 110 120 LEKAKVSLND CLACSGCITS AETVLITQQS HEELKKVLDA NKMAAPSQQR LVVVSVSPQS 130 140 150 160 170 180 RASLAARFQL NPTDTARKLT SFFKKIGVHF VFDTAFSRHF SLLESQREFV RRFRGQADCR 190 200 210 220 230 240 QALPLLASAC PGWICYAEKT HGSFILPHIS TARSPQQVMG SLVKDFFAQQ QHLTPDKIYH 250 260 270 280 290 300 VTVMPCYDKK LEASRPDFFN QEHQTRDVDC VLTTGEVFRL LEEEGVSLPD LEPAPLDSLC 310 320 330 340 350 360 SGASAEEPTS HRGGGSGGYL EHVFRHAARE LFGIHVAEVT YKPLRNKDFQ EVTLEKEGQV 370 380 390 400 410 420 LLHFAMAYGF RNIQNLVQRL KRGRCPYHYV EVMACPSGCL NGGGQLQAPD RPSRELLQHV 430 440 450 460 470 ERLYGMVRAE APEDAPGVQE LYTHWLQGTD SECAGRLLHT QYHAVEKAST GLGIRW
	Isoform 2 [UniParc]. Checksum: AA85FD01731E7051	FASTA	233	26,135
	10 20 30 40 50 60 MPCYDKKLEA SRPDFFNQEH QTRDVDCVLT TGEVFRLLEE EGVSLPDLEP APLDSLCSGA 70 80 90 100 110 120 SAEEPTSHRG GGSGGYLEHV FRHAARELFG IHVAEVTYKP LRNKDFQEVT LEKEGQVLLH 130 140 150 160 170 180 FAMAYGFRNI QNLVQRLKRG RCPYHYVEVM ACPSGCLNGG GQLQAPDRPS RELLQHVERL 190 200 210 220 230 YGMVRAEAPE DAPGVQELYT HWLQGTDSEC AGRLLHTQYH AVEKASTGLG IRW
	Isoform 3 [UniParc]. Checksum: D22B5E1FFD155545	FASTA	374	42,010
	10 20 30 40 50 60 MAAPSQQRLV VVSVSPQSRA SLAARFQLNP TDTARKLTSF FKKIGVHFVF DTAFSRHFSL 70 80 90 100 110 120 LESQREFVRR FRGQADCRQA LPLLASACPG WICYAEKTHG SFILPHISTA RSPQQVMGSL 130 140 150 160 170 180 VKDFFAQQQH LTPDKIYHVT VMPCYDKKLE ASRPDFFNQE HQTRDVDCVL TTGEVFRLLE 190 200 210 220 230 240 EEGVSLPDLE PAPLDSLCSG ASAEEPTSHR GGGSGGYLEH VFRHAARELF GIHVAEVTYK 250 260 270 280 290 300 PLRNKDFQEV TLEKEGQVLL HFAMAYGFRN IQNLVQRLKR GRCPYHYVEV MACPSGCLNG 310 320 330 340 350 360 GGQLQAPDRP SRELLQHVER LYGMVRAEAP EDAPGVQELY THWLQGTDSE CAGRLLHTQY 370 HAVEKASTGL GIRW

References

	« Hide 'large scale' referencesShow '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. , 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: 14702039] [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: 11157797] [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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed: 15616553] [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: 15489334] [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: 16956324] [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: 18270200] [Abstract] Cited for: FUNCTION.
[10]	"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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

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
HSSP	HSSP built from PDB template 1HFE based on UniProtKB P07598.
ProteinModelPortal	Q9H6Q4.
SMR	Q9H6Q4. Positions 88-466.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H6Q4.
PTM databases
PhosphoSite	Q9H6Q4.
Polymorphism databases
DMDM	74733617.
Proteomic databases
PeptideAtlas	Q9H6Q4.
PRIDE	Q9H6Q4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000251588; ENSP00000251588; ENSG00000103245.
GeneID	64428.
KEGG	hsa:64428.
UCSC	uc002cjp.1. human. uc002cjr.1. human.
Organism-specific databases
CTD	64428.
GeneCards	GC16M000783.
H-InvDB	HIX0012669.
HGNC	HGNC:14179. NARFL.
HPA	HPA040851.
MIM	611118. gene.
neXtProt	NX_Q9H6Q4.
PharmGKB	PA128394707.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10865.
GeneTree	ENSGT00390000017231.
HOGENOM	HBG738660.
HOVERGEN	HBG055005.
OMA	SPQQCLG.
OrthoDB	EOG4N5VWS.
PhylomeDB	Q9H6Q4.
Gene expression databases
ArrayExpress	Q9H6Q4.
Bgee	Q9H6Q4.
CleanEx	HS_NARFL.
Genevestigator	Q9H6Q4.
Family and domain databases
InterPro	IPR009016. Fe_hydrogenase. IPR004108. Fe_hydrogenase_lsu_C. IPR003149. Fe_hydrogenase_ssu-like. [Graphical view]
Gene3D	G3DSA:4.10.260.20. Fe_hyd_ssu-like. 1 hit.
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
NextBio	66437.
SOURCE	Search...

Entry information

Entry name

NARFL_HUMAN

Accession

Primary (citable) accession number: Q9H6Q4
Secondary accession number(s): A1L385 , B3KTJ3, Q53GC6, Q96S10, Q9H6J8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	March 1, 2001
Last modified:	January 25, 2012
This is version 77 of the entry and version 1 of the sequence. [Complete history]

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.