Q9GZT8 (NIF3L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NIF3-like protein 1

Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein

Gene names

Name:	NIF3L1
Synonyms:	ALS2CR1
ORF Names:	MDS015, My018

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	377 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Homodimer. Interacts with COPS2 By similarity. Interacts with THOC7. Ref.10
Subcellular location	Cytoplasm Ref.1 Ref.10.
Sequence similarities	Belongs to the UPF0135 (NIF3) family.
Sequence caution	The sequence AAG14952.1 differs from that shown. Reason: Frameshift at positions 104 and 109.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of transcription, DNA-dependent Inferred from direct assay PubMed 15163635. Source: BHF-UCL
Cellular_component	cytoplasm Inferred from direct assay PubMed 15163635. Source: BHF-UCL mitochondrion Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BEND7	Q8N7W2	3	EBI-740897,EBI-743382
DHPS	P49366	3	EBI-740897,EBI-741925
RABAC1	Q9UI14	3	EBI-740897,EBI-712367
TRIP13	Q15645	3	EBI-740897,EBI-358993

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9GZT8-1)

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: Q9GZT8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.

Isoform 3 (identifier: Q9GZT8-3)

Also known as: beta;

The sequence of this isoform differs from the canonical sequence as follows:
     243-377: PLLLHTGMGR...ETDRDPLQVV → SLKSKSWPCV...MILWMLLPKE

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 377	377	NIF3-like protein 1		PRO_0000147353
Amino acid modifications
	Modified residue	109	1	N6-acetyllysine Ref.11
Natural variations
	Alternative sequence	1 – 27	27	Missing in isoform 2.		VSP_029328
	Alternative sequence	243 – 377	135	PLLLH…PLQVV → SLKSKSWPCVLVLGAAFCRV LRLTFTSQVRCPIMILWMLL PKE in isoform 3.		VSP_043248
	Natural variant	324	1	T → I. Corresponds to variant rs7917 [ dbSNP | Ensembl ].		VAR_037084
Experimental info
	Sequence conflict	109	1	K → E in AAG14952. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 13, 2007. Version 2. Checksum: 41BDCADDD81CA0D8	FASTA	377	41,968
	10 20 30 40 50 60 MLSSCVRPVP TTVRFVDSLI CNSSRSFMDL KALLSSLNDF ASLSFAESWD NVGLLVEPSP 70 80 90 100 110 120 PHTVNTLFLT NDLTEEVMEE VLQKKADLIL SYHPPIFRPM KRITWNTWKE RLVIRALENR 130 140 150 160 170 180 VGIYSPHTAY DAAPQGVNNW LAKGLGACTS RPIHPSKAPN YPTEGNHRVE FNVNYTQDLD 190 200 210 220 230 240 KVMSAVKGID GVSVTSFSAR TGNEEQTRIN LNCTQKALMQ VVDFLSRNKQ LYQKTEILSL 250 260 270 280 290 300 EKPLLLHTGM GRLCTLDESV SLATMIDRIK RHLKLSHIRL ALGVGRTLES QVKVVALCAG 310 320 330 340 350 360 SGSSVLQGVE ADLYLTGEMS HHDTLDAASQ GINVILCEHS NTERGFLSDL RDMLDSHLEN 370 KINIILSETD RDPLQVV
	Isoform 2 [UniParc]. Checksum: 81F1A5AD35B25ED7	FASTA	350	38,984
	10 20 30 40 50 60 MDLKALLSSL NDFASLSFAE SWDNVGLLVE PSPPHTVNTL FLTNDLTEEV MEEVLQKKAD 70 80 90 100 110 120 LILSYHPPIF RPMKRITWNT WKERLVIRAL ENRVGIYSPH TAYDAAPQGV NNWLAKGLGA 130 140 150 160 170 180 CTSRPIHPSK APNYPTEGNH RVEFNVNYTQ DLDKVMSAVK GIDGVSVTSF SARTGNEEQT 190 200 210 220 230 240 RINLNCTQKA LMQVVDFLSR NKQLYQKTEI LSLEKPLLLH TGMGRLCTLD ESVSLATMID 250 260 270 280 290 300 RIKRHLKLSH IRLALGVGRT LESQVKVVAL CAGSGSSVLQ GVEADLYLTG EMSHHDTLDA 310 320 330 340 350 ASQGINVILC EHSNTERGFL SDLRDMLDSH LENKINIILS ETDRDPLQVV
	Isoform 3 (beta) [UniParc]. Checksum: 5084AD8C6E9700EC	FASTA	285	32,164
	10 20 30 40 50 60 MLSSCVRPVP TTVRFVDSLI CNSSRSFMDL KALLSSLNDF ASLSFAESWD NVGLLVEPSP 70 80 90 100 110 120 PHTVNTLFLT NDLTEEVMEE VLQKKADLIL SYHPPIFRPM KRITWNTWKE RLVIRALENR 130 140 150 160 170 180 VGIYSPHTAY DAAPQGVNNW LAKGLGACTS RPIHPSKAPN YPTEGNHRVE FNVNYTQDLD 190 200 210 220 230 240 KVMSAVKGID GVSVTSFSAR TGNEEQTRIN LNCTQKALMQ VVDFLSRNKQ LYQKTEILSL 250 260 270 280 EKSLKSKSWP CVLVLGAAFC RVLRLTFTSQ VRCPIMILWM LLPKE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and characterization of a novel human gene, NIF3L1, and its mouse ortholog, Nif3l1, highly conserved from bacteria to mammals." Tascou S., Uedelhoven J., Dixkens C., Nayernia K., Engel W., Burfeind P. Cytogenet. Cell Genet. 90:330-336(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
[2]	"Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2." Hadano S., Yanagisawa Y., Skaug J., Fichter K., Nasir J., Martindale D., Koop B.F., Scherer S.W., Nicholson D.W., Rouleau G.A., Ikeda J.-E., Hayden M.R. Genomics 71:200-213(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"NIF3L1 interacts with WBSCR14." Merla G., Reymond A. Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[4]	Mao Y.M., Xie Y., Huang X.Y., Ying K., Dai J.L. Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Fetal brain.
[5]	"Novel genes expressed in hematopoietic stem/progenitor cells from myelodysplastic syndrome patients." Huang C., Qian B., Tu Y., Gu W., Wang Y., Han Z., Chen Z. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Hematopoietic stem cell.
[6]	"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] (ISOFORM 2). Tissue: Ovarian carcinoma.
[7]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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). Tissue: Skin.
[10]	"Identification and characterization of NIF3L1 BP1, a novel cytoplasmic interaction partner of the NIF3L1 protein." Tascou S., Kang T.W., Trappe R., Engel W., Burfeind P. Biochem. Biophys. Res. Commun. 309:440-448(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), INTERACTION WITH THOC7, SUBCELLULAR LOCATION.
[11]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-109, MASS SPECTROMETRY.
[12]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF283538 mRNA. Translation: AAG44846.1. AB038949 mRNA. Translation: BAB32499.1. AY251943 mRNA. Translation: AAP84063.1. AF060513 mRNA. Translation: AAG43131.1. AF182416 mRNA. Translation: AAG14952.1. Frameshift. AK023378 mRNA. Translation: BAB14551.1. AC005037 Genomic DNA. Translation: AAY14724.1. CH471063 Genomic DNA. Translation: EAW70224.1. BC007654 mRNA. Translation: AAH07654.1.
IPI	IPI00451430. IPI00604624. IPI00873590.
RefSeq	NP_001129511.1. NM_001136039.2. NP_001135827.1. NM_001142355.1. NP_001135828.1. NM_001142356.1. NP_068596.2. NM_021824.3.
UniGene	Hs.145284.
3D structure databases
ProteinModelPortal	Q9GZT8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9GZT8. 36 interactions.
MINT	MINT-1438019.
STRING	9606.ENSP00000386394.
PTM databases
PhosphoSite	Q9GZT8.
Polymorphism databases
DMDM	160112850.
Proteomic databases
PaxDb	Q9GZT8.
PRIDE	Q9GZT8.
Protocols and materials databases
DNASU	60491.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359683; ENSP00000352711; ENSG00000196290. ENST00000409020; ENSP00000386394; ENSG00000196290. ENST00000409357; ENSP00000387315; ENSG00000196290. ENST00000409588; ENSP00000387021; ENSG00000196290. ENST00000416651; ENSP00000400787; ENSG00000196290.
GeneID	60491.
KEGG	hsa:60491.
UCSC	uc002uwl.2. human. uc002uwq.2. human.
Organism-specific databases
CTD	60491.
GeneCards	GC02P201718.
HGNC	HGNC:13390. NIF3L1.
HPA	HPA036335.
MIM	605778. gene.
neXtProt	NX_Q9GZT8.
PharmGKB	PA31629.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0327.
HOGENOM	HOG000014260.
HOVERGEN	HBG029337.
InParanoid	Q9GZT8.
OMA	NNWLAKG.
Gene expression databases
ArrayExpress	Q9GZT8.
Bgee	Q9GZT8.
CleanEx	HS_NIF3L1.
Genevestigator	Q9GZT8.
GermOnline	ENSG00000196290. Homo sapiens.
Family and domain databases
InterPro	IPR002678. Interacting_NIF3. IPR017222. UCP037490_NIF3_euk. [Graphical view]
PANTHER	PTHR13799. PTHR13799. 1 hit.
Pfam	PF01784. NIF3. 1 hit. [Graphical view]
PIRSF	PIRSF037490. UCP037490_NIF3_euk. 1 hit.
SUPFAM	SSF102705. interacting_NIF3. 1 hit.
TIGRFAMs	TIGR00486. YbgI_SA1388. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	60491.
NextBio	65383.
SOURCE	Search...

Entry information

Entry name

NIF3L_HUMAN

Accession

Primary (citable) accession number: Q9GZT8
Secondary accession number(s): Q53TX4 , Q6X735, Q9H2D2, Q9HC18

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2002
Last sequence update:	November 13, 2007
Last modified:	May 29, 2013
This is version 111 of the entry and version 2 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.