ANR49_HUMAN
ID ANR49_HUMAN Reviewed; 239 AA.
AC Q8WVL7; Q8NDF2; Q96JE5; Q9NXK7;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Ankyrin repeat domain-containing protein 49;
DE AltName: Full=Fetal globin-inducing factor;
GN Name=ANKRD49; Synonyms=FGIF;
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], TISSUE SPECIFICITY, AND FUNCTION.
RC TISSUE=Fetal liver;
RX PubMed=11162141; DOI=10.1006/bcmd.2000.0344;
RA Yang Y., Duan Z., Skarpidi E., Li Q., Papayannopoulou T.,
RA Stamatoyannopoulos G.;
RT "Cloning and characterization of a potential transcriptional activator of
RT human gamma-globin genes.";
RL Blood Cells Mol. Dis. 27:1-15(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon mucosa;
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].
RC TISSUE=Testis;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
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 [5]
RP FUNCTION.
RX PubMed=16131492; DOI=10.1074/jbc.m504402200;
RA Blau C.A., Barbas C.F., Bomhoff A.L., Neades R., Yan J., Navas P.A.,
RA Peterson K.R.;
RT "{gamma}-Globin gene expression in chemical inducer of dimerization (CID)-
RT dependent multipotential cells established from human {beta}-globin locus
RT yeast artificial chromosome ({beta}-YAC) transgenic mice.";
RL J. Biol. Chem. 280:36642-36647(2005).
RN [6]
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Induces HBG1 expression (PubMed:16131492, PubMed:11162141).
CC May have a role in spermatogenesis where it promotes autophagy in
CC response to serum starvation, via the NF-kappaB pathway (By
CC similarity). {ECO:0000250|UniProtKB:Q8VE42,
CC ECO:0000269|PubMed:11162141, ECO:0000269|PubMed:16131492}.
CC -!- INTERACTION:
CC Q8WVL7; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-9381820, EBI-744099;
CC Q8WVL7; Q9UIM3: FKBPL; NbExp=6; IntAct=EBI-9381820, EBI-719882;
CC Q8WVL7; Q9NWT6: HIF1AN; NbExp=4; IntAct=EBI-9381820, EBI-745632;
CC Q8WVL7; P62826: RAN; NbExp=2; IntAct=EBI-9381820, EBI-286642;
CC Q8WVL7; Q96GM5: SMARCD1; NbExp=4; IntAct=EBI-9381820, EBI-358489;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8VE42}.
CC -!- TISSUE SPECIFICITY: Widely expressed in fetus, at a high level in fetal
CC liver, brain and lung. {ECO:0000269|PubMed:11162141}.
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DR EMBL; AF025354; AAK60412.1; -; mRNA.
DR EMBL; AK000196; BAA91003.1; -; mRNA.
DR EMBL; AL833977; CAD38821.2; -; mRNA.
DR EMBL; BC017798; AAH17798.1; -; mRNA.
DR CCDS; CCDS8300.1; -.
DR RefSeq; NP_060174.2; NM_017704.2.
DR RefSeq; XP_016873430.1; XM_017017941.1.
DR AlphaFoldDB; Q8WVL7; -.
DR SMR; Q8WVL7; -.
DR BioGRID; 120201; 59.
DR DIP; DIP-61280N; -.
DR IntAct; Q8WVL7; 11.
DR STRING; 9606.ENSP00000440396; -.
DR iPTMnet; Q8WVL7; -.
DR PhosphoSitePlus; Q8WVL7; -.
DR BioMuta; ANKRD49; -.
DR DMDM; 74751554; -.
DR EPD; Q8WVL7; -.
DR jPOST; Q8WVL7; -.
DR MassIVE; Q8WVL7; -.
DR MaxQB; Q8WVL7; -.
DR PaxDb; Q8WVL7; -.
DR PeptideAtlas; Q8WVL7; -.
DR PRIDE; Q8WVL7; -.
DR ProteomicsDB; 74802; -.
DR Antibodypedia; 51056; 130 antibodies from 20 providers.
DR DNASU; 54851; -.
DR Ensembl; ENST00000302755.4; ENSP00000303518.3; ENSG00000168876.9.
DR Ensembl; ENST00000544612.6; ENSP00000440396.1; ENSG00000168876.9.
DR GeneID; 54851; -.
DR KEGG; hsa:54851; -.
DR MANE-Select; ENST00000544612.6; ENSP00000440396.1; NM_017704.3; NP_060174.2.
DR UCSC; uc001pew.4; human.
DR CTD; 54851; -.
DR DisGeNET; 54851; -.
DR GeneCards; ANKRD49; -.
DR HGNC; HGNC:25970; ANKRD49.
DR HPA; ENSG00000168876; Low tissue specificity.
DR MIM; 619571; gene.
DR neXtProt; NX_Q8WVL7; -.
DR OpenTargets; ENSG00000168876; -.
DR PharmGKB; PA142672615; -.
DR VEuPathDB; HostDB:ENSG00000168876; -.
DR eggNOG; KOG0512; Eukaryota.
DR GeneTree; ENSGT00390000003919; -.
DR InParanoid; Q8WVL7; -.
DR OMA; SACRWSH; -.
DR OrthoDB; 1546307at2759; -.
DR PhylomeDB; Q8WVL7; -.
DR TreeFam; TF351259; -.
DR PathwayCommons; Q8WVL7; -.
DR SignaLink; Q8WVL7; -.
DR BioGRID-ORCS; 54851; 329 hits in 1084 CRISPR screens.
DR ChiTaRS; ANKRD49; human.
DR GenomeRNAi; 54851; -.
DR Pharos; Q8WVL7; Tbio.
DR PRO; PR:Q8WVL7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8WVL7; protein.
DR Bgee; ENSG00000168876; Expressed in calcaneal tendon and 206 other tissues.
DR ExpressionAtlas; Q8WVL7; baseline and differential.
DR Genevisible; Q8WVL7; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IC:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 4.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 2.
PE 1: Evidence at protein level;
KW ANK repeat; Differentiation; Nucleus; Phosphoprotein; Reference proteome;
KW Repeat; Spermatogenesis.
FT CHAIN 1..239
FT /note="Ankyrin repeat domain-containing protein 49"
FT /id="PRO_0000244585"
FT REPEAT 73..103
FT /note="ANK 1"
FT REPEAT 107..136
FT /note="ANK 2"
FT REPEAT 140..169
FT /note="ANK 3"
FT REPEAT 173..206
FT /note="ANK 4"
FT MOD_RES 49
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT CONFLICT 25
FT /note="N -> S (in Ref. 1; AAK60412)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="K -> R (in Ref. 2; BAA91003)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 239 AA; 27290 MW; 97103467E8F1EA50 CRC64;
MEKEKGNDDG IPDQENSLDF SEHFNQLELL ETHGHLIPTG TQSLWVGNSD EDEEQDDKNE
EWYRLQEKKM EKDPSRLLLW AAEKNRLTTV RRLLSEKATH VNTRDEDEYT PLHRAAYSGH
LDIVQELIAQ GADVHAVTVD GWTPLHSACK WNNTRVASFL LQHDADINAQ TKGLLTPLHL
AAGNRDSKDT LELLLMNRYV KPGLKNNLEE TAFDIARRTS IYHYLFEIVE GCTNSSPQS
