IFRD1_HUMAN
ID IFRD1_HUMAN Reviewed; 451 AA.
AC O00458; B7Z5G1; O75234; Q5U013; Q9BVE4;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 4.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Interferon-related developmental regulator 1;
DE AltName: Full=Nerve growth factor-inducible protein PC4;
GN Name=IFRD1;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9722946; DOI=10.1006/geno.1998.5260;
RA Buanne P., Incerti B., Guardavaccaro D., Avvantaggiato V., Simeone A.,
RA Tirone F.;
RT "Cloning of the human interferon-related developmental regulator (IFRD1)
RT gene coding for the PC4 protein, a member of a novel family of
RT developmentally regulated genes.";
RL Genomics 51:233-242(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Amygdala;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Cervix;
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 INTERACTION WITH PSIP1.
RX PubMed=9822615; DOI=10.1093/emboj/17.22.6723;
RA Ge H., Si Y., Roeder R.G.;
RT "Isolation of cDNAs encoding novel transcription coactivators p52 and p75
RT reveals an alternate regulatory mechanism of transcriptional activation.";
RL EMBO J. 17:6723-6729(1998).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP VARIANT LYS-39.
RX PubMed=21248752; DOI=10.1038/nature09639;
RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H.,
RA Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J.,
RA Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M.,
RA Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L.,
RA Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J.,
RA Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A.,
RA Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K.,
RA Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.;
RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene
RT PBRM1 in renal carcinoma.";
RL Nature 469:539-542(2011).
CC -!- FUNCTION: Could play a role in regulating gene activity in the
CC proliferative and/or differentiative pathways induced by NGF. May be an
CC autocrine factor that attenuates or amplifies the initial ligand-
CC induced signal (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with PSIP1/LEDGF. {ECO:0000269|PubMed:9822615}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O00458-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O00458-2; Sequence=VSP_044304;
CC -!- TISSUE SPECIFICITY: Expressed in a variety of tissues.
CC -!- SIMILARITY: Belongs to the IFRD family. {ECO:0000305}.
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DR EMBL; Y10313; CAA71366.1; -; mRNA.
DR EMBL; AK298894; BAH12897.1; -; mRNA.
DR EMBL; AK315967; BAH14338.1; -; mRNA.
DR EMBL; BT019889; AAV38692.1; -; mRNA.
DR EMBL; BT019890; AAV38693.1; -; mRNA.
DR EMBL; AC002459; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005192; AAC24562.1; -; Genomic_DNA.
DR EMBL; AC079741; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001272; AAH01272.1; -; mRNA.
DR CCDS; CCDS34736.1; -. [O00458-1]
DR CCDS; CCDS56504.1; -. [O00458-2]
DR RefSeq; NP_001007246.1; NM_001007245.2. [O00458-1]
DR RefSeq; NP_001184008.1; NM_001197079.1. [O00458-2]
DR RefSeq; NP_001184009.1; NM_001197080.1. [O00458-2]
DR RefSeq; NP_001541.2; NM_001550.3. [O00458-1]
DR RefSeq; XP_016867640.1; XM_017012151.1.
DR AlphaFoldDB; O00458; -.
DR SMR; O00458; -.
DR BioGRID; 109697; 31.
DR IntAct; O00458; 7.
DR MINT; O00458; -.
DR STRING; 9606.ENSP00000384477; -.
DR iPTMnet; O00458; -.
DR PhosphoSitePlus; O00458; -.
DR BioMuta; IFRD1; -.
DR EPD; O00458; -.
DR jPOST; O00458; -.
DR MassIVE; O00458; -.
DR MaxQB; O00458; -.
DR PaxDb; O00458; -.
DR PeptideAtlas; O00458; -.
DR PRIDE; O00458; -.
DR ProteomicsDB; 47909; -. [O00458-1]
DR ProteomicsDB; 6690; -.
DR Antibodypedia; 17367; 184 antibodies from 29 providers.
DR DNASU; 3475; -.
DR Ensembl; ENST00000005558.8; ENSP00000005558.4; ENSG00000006652.15. [O00458-1]
DR Ensembl; ENST00000403825.8; ENSP00000384477.3; ENSG00000006652.15. [O00458-1]
DR Ensembl; ENST00000535603.5; ENSP00000439188.1; ENSG00000006652.15. [O00458-2]
DR Ensembl; ENST00000621379.4; ENSP00000483255.1; ENSG00000006652.15. [O00458-2]
DR Ensembl; ENST00000675578.1; ENSP00000502336.1; ENSG00000006652.15. [O00458-1]
DR GeneID; 3475; -.
DR KEGG; hsa:3475; -.
DR MANE-Select; ENST00000403825.8; ENSP00000384477.3; NM_001550.4; NP_001541.2.
DR UCSC; uc003vgh.4; human. [O00458-1]
DR CTD; 3475; -.
DR DisGeNET; 3475; -.
DR GeneCards; IFRD1; -.
DR HGNC; HGNC:5456; IFRD1.
DR HPA; ENSG00000006652; Low tissue specificity.
DR MalaCards; IFRD1; -.
DR MIM; 603502; gene.
DR neXtProt; NX_O00458; -.
DR OpenTargets; ENSG00000006652; -.
DR Orphanet; 98771; Spinocerebellar ataxia type 18.
DR PharmGKB; PA29691; -.
DR VEuPathDB; HostDB:ENSG00000006652; -.
DR eggNOG; KOG2842; Eukaryota.
DR GeneTree; ENSGT00390000013347; -.
DR HOGENOM; CLU_031384_1_0_1; -.
DR InParanoid; O00458; -.
DR OMA; VYNLSME; -.
DR PhylomeDB; O00458; -.
DR TreeFam; TF313638; -.
DR PathwayCommons; O00458; -.
DR SignaLink; O00458; -.
DR BioGRID-ORCS; 3475; 23 hits in 1085 CRISPR screens.
DR ChiTaRS; IFRD1; human.
DR GeneWiki; IFRD1; -.
DR GenomeRNAi; 3475; -.
DR Pharos; O00458; Tbio.
DR PRO; PR:O00458; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; O00458; protein.
DR Bgee; ENSG00000006652; Expressed in body of pancreas and 206 other tissues.
DR ExpressionAtlas; O00458; baseline and differential.
DR Genevisible; O00458; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0016528; C:sarcoplasm; IEA:Ensembl.
DR GO; GO:0042692; P:muscle cell differentiation; IEA:Ensembl.
DR GO; GO:0007518; P:myoblast fate determination; TAS:ProtInc.
DR GO; GO:0030517; P:negative regulation of axon extension; IEA:Ensembl.
DR GO; GO:0048671; P:negative regulation of collateral sprouting; IEA:Ensembl.
DR GO; GO:0043403; P:skeletal muscle tissue regeneration; IEA:Ensembl.
DR GO; GO:0014706; P:striated muscle tissue development; IEA:Ensembl.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR039777; IFRD.
DR InterPro; IPR006921; Interferon-rel_develop_reg_C.
DR InterPro; IPR007701; Interferon-rel_develop_reg_N.
DR PANTHER; PTHR12354; PTHR12354; 1.
DR Pfam; PF05004; IFRD; 1.
DR Pfam; PF04836; IFRD_C; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Differentiation;
KW Reference proteome.
FT CHAIN 1..451
FT /note="Interferon-related developmental regulator 1"
FT /id="PRO_0000153285"
FT REGION 1..69
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 32..59
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..50
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044304"
FT VARIANT 39
FT /note="Q -> K (found in a renal cell carcinoma sample;
FT somatic mutation)"
FT /evidence="ECO:0000269|PubMed:21248752"
FT /id="VAR_064723"
FT CONFLICT 44
FT /note="E -> D (in Ref. 3; AAV38693)"
FT /evidence="ECO:0000305"
FT CONFLICT 84
FT /note="L -> R (in Ref. 1; CAA71366)"
FT /evidence="ECO:0000305"
FT CONFLICT 314
FT /note="Q -> R (in Ref. 3; AAV38693)"
FT /evidence="ECO:0000305"
FT CONFLICT 388..392
FT /note="HLQSN -> PLAVKM (in Ref. 1; CAA71366)"
FT /evidence="ECO:0000305"
FT CONFLICT 396
FT /note="R -> E (in Ref. 1; CAA71366)"
FT /evidence="ECO:0000305"
FT CONFLICT 401..411
FT /note="LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 451 AA; 50269 MW; E1A086D34E471709 CRC64;
MPKNKKRNTP HRGSSAGGGG SGAAAATAAT AGGQHRNVQP FSDEDASIET MSHCSGYSDP
SSFAEDGPEV LDEEGTQEDL EYKLKGLIDL TLDKSAKTRQ AALEGIKNAL ASKMLYEFIL
ERRMTLTDSI ERCLKKGKSD EQRAAAALAS VLCIQLGPGI ESEEILKTLG PILKKIICDG
SASMQARQTC ATCFGVCCFI ATDDITELYS TLECLENIFT KSYLKEKDTT VICSTPNTVL
HISSLLAWTL LLTICPINEV KKKLEMHFHK LPSLLSCDDV NMRIAAGESL ALLFELARGI
ESDFFYEDME SLTQMLRALA TDGNKHRAKV DKRKQRSVFR DVLRAVEERD FPTETIKFGP
ERMYIDCWVK KHTYDTFKEV LGSGMQYHLQ SNEFLRNVFE LGPPVMLDAA TLKTMKISRF
ERHLYNSAAF KARTKARSKC RDKRADVGEF F
