NAIF1_HUMAN
ID NAIF1_HUMAN Reviewed; 327 AA.
AC Q69YI7; B3KV81; Q8WU12;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2004, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Nuclear apoptosis-inducing factor 1;
GN Name=NAIF1; Synonyms=C9orf90;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=16378748; DOI=10.1016/j.biocel.2005.11.007;
RA Lv B., Shi T., Wang X., Song Q., Zhang Y., Shen Y., Ma D., Lou Y.;
RT "Overexpression of the novel human gene, nuclear apoptosis-inducing factor
RT 1, induces apoptosis.";
RL Int. J. Biochem. Cell Biol. 38:671-683(2006).
RN [7]
RP INTERACTION WITH HARBI1, AND SUBCELLULAR LOCATION.
RX PubMed=18339812; DOI=10.1073/pnas.0707746105;
RA Sinzelle L., Kapitonov V.V., Grzela D.P., Jursch T., Jurka J., Izsvak Z.,
RA Ivics Z.;
RT "Transposition of a reconstructed Harbinger element in human cells and
RT functional homology with two transposon-derived cellular genes.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:4715-4720(2008).
CC -!- FUNCTION: Induces apoptosis. {ECO:0000269|PubMed:16378748}.
CC -!- SUBUNIT: Interacts with HARBI1. {ECO:0000269|PubMed:18339812}.
CC -!- INTERACTION:
CC Q69YI7; O95273: CCNDBP1; NbExp=3; IntAct=EBI-10249231, EBI-748961;
CC Q69YI7; O95416: SOX14; NbExp=4; IntAct=EBI-10249231, EBI-9087806;
CC Q69YI7; Q15554: TERF2; NbExp=2; IntAct=EBI-10249231, EBI-706637;
CC Q69YI7-2; Q92870-2: APBB2; NbExp=3; IntAct=EBI-18040878, EBI-21535880;
CC Q69YI7-2; Q3KNR5: PAX4; NbExp=3; IntAct=EBI-18040878, EBI-10240813;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16378748,
CC ECO:0000269|PubMed:18339812}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q69YI7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q69YI7-2; Sequence=VSP_014447, VSP_014448;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16378748}.
CC -!- SIMILARITY: Belongs to the NAIF1 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK122729; BAG53693.1; -; mRNA.
DR EMBL; AL833392; CAH10588.1; -; mRNA.
DR EMBL; AL360268; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87735.1; -; Genomic_DNA.
DR EMBL; BC021580; AAH21580.1; -; mRNA.
DR CCDS; CCDS6889.1; -. [Q69YI7-1]
DR RefSeq; NP_931045.1; NM_197956.3. [Q69YI7-1]
DR AlphaFoldDB; Q69YI7; -.
DR BioGRID; 128460; 11.
DR IntAct; Q69YI7; 7.
DR STRING; 9606.ENSP00000362170; -.
DR iPTMnet; Q69YI7; -.
DR PhosphoSitePlus; Q69YI7; -.
DR BioMuta; NAIF1; -.
DR DMDM; 68565165; -.
DR EPD; Q69YI7; -.
DR MassIVE; Q69YI7; -.
DR MaxQB; Q69YI7; -.
DR PaxDb; Q69YI7; -.
DR PeptideAtlas; Q69YI7; -.
DR PRIDE; Q69YI7; -.
DR ProteomicsDB; 66156; -. [Q69YI7-1]
DR ProteomicsDB; 66157; -. [Q69YI7-2]
DR Antibodypedia; 30951; 117 antibodies from 18 providers.
DR DNASU; 203245; -.
DR Ensembl; ENST00000373078.5; ENSP00000362170.4; ENSG00000171169.9. [Q69YI7-1]
DR GeneID; 203245; -.
DR KEGG; hsa:203245; -.
DR MANE-Select; ENST00000373078.5; ENSP00000362170.4; NM_197956.4; NP_931045.1.
DR UCSC; uc004bta.4; human. [Q69YI7-1]
DR CTD; 203245; -.
DR DisGeNET; 203245; -.
DR GeneCards; NAIF1; -.
DR HGNC; HGNC:25446; NAIF1.
DR HPA; ENSG00000171169; Low tissue specificity.
DR MIM; 610673; gene.
DR neXtProt; NX_Q69YI7; -.
DR OpenTargets; ENSG00000171169; -.
DR PharmGKB; PA162396796; -.
DR VEuPathDB; HostDB:ENSG00000171169; -.
DR eggNOG; ENOG502QW9U; Eukaryota.
DR GeneTree; ENSGT00450000040324; -.
DR HOGENOM; CLU_078961_0_0_1; -.
DR InParanoid; Q69YI7; -.
DR OMA; EMIAQHA; -.
DR PhylomeDB; Q69YI7; -.
DR TreeFam; TF332812; -.
DR PathwayCommons; Q69YI7; -.
DR SignaLink; Q69YI7; -.
DR BioGRID-ORCS; 203245; 19 hits in 1082 CRISPR screens.
DR GenomeRNAi; 203245; -.
DR Pharos; Q69YI7; Tbio.
DR PRO; PR:Q69YI7; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q69YI7; protein.
DR Bgee; ENSG00000171169; Expressed in granulocyte and 101 other tissues.
DR ExpressionAtlas; Q69YI7; baseline and differential.
DR Genevisible; Q69YI7; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005739; C:mitochondrion; IEA:GOC.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0030308; P:negative regulation of cell growth; IDA:UniProtKB.
DR GO; GO:1902108; P:regulation of mitochondrial membrane permeability involved in apoptotic process; IDA:UniProtKB.
DR InterPro; IPR028002; Myb_DNA-bind_5.
DR InterPro; IPR026753; NAIF1.
DR PANTHER; PTHR23098; PTHR23098; 1.
DR Pfam; PF13873; Myb_DNA-bind_5; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Apoptosis; Nucleus; Reference proteome.
FT CHAIN 1..327
FT /note="Nuclear apoptosis-inducing factor 1"
FT /id="PRO_0000089724"
FT REGION 1..70
FT /note="Required for nuclear localization and apoptosis-
FT inducing activity"
FT REGION 87..118
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 303..327
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 171..172
FT /note="IP -> SE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014447"
FT VAR_SEQ 173..327
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014448"
SQ SEQUENCE 327 AA; 35164 MW; 52FC0BAB88BC0EAA CRC64;
MAVPAKKRKM NFSEREVEII VEELELKKHL LVNHFNAGVP LAAKSAAWHG ILRRVNAVAT
CRRELPEVKK KWSDLKTEVR RKVAQVRAAV EGGEAPGPTE EDGAGGPGTG GGSGGGGPAV
APVLLTPMQQ RICNLLGEAT IISLPSTTEI HPVALGPSAT AAAATVTLTQ IPTETTYHTL
EEGVVEYCTA EAPPPLPPET PVDMMAQHAD TSVKPQALKS RIALNSAKLI QEQRVTNLHV
KEIAQHLEQQ NDLLQMIRRS QEVQACAQER QAQAMEGTQA ALSVLIQVLR PMIKDFRRYL
QSNTANPAPA SDPGQVAQNG QPDSIIQ
