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   27-MAR-2024, entry version 161.
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; 64.
DR   DIP; DIP-61280N; -.
DR   IntAct; Q8WVL7; 14.
DR   MINT; Q8WVL7; -.
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; 9606-ENSP00000440396; -.
DR   PeptideAtlas; Q8WVL7; -.
DR   ProteomicsDB; 74802; -.
DR   Pumba; Q8WVL7; -.
DR   Antibodypedia; 51056; 138 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   AGR; HGNC:25970; -.
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; KWNNADC; -.
DR   OrthoDB; 5479625at2759; -.
DR   PhylomeDB; Q8WVL7; -.
DR   TreeFam; TF351259; -.
DR   PathwayCommons; Q8WVL7; -.
DR   SignaLink; Q8WVL7; -.
DR   BioGRID-ORCS; 54851; 362 hits in 1168 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 208 other cell types or tissues.
DR   ExpressionAtlas; Q8WVL7; baseline and differential.
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 DNA-templated transcription; IDA:UniProtKB.
DR   GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR   Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 1.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR   PANTHER; PTHR24180:SF55; ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 49; 1.
DR   PANTHER; PTHR24180; CYCLIN-DEPENDENT KINASE INHIBITOR 2C-RELATED; 1.
DR   Pfam; PF00023; Ank; 1.
DR   Pfam; PF12796; Ank_2; 1.
DR   PRINTS; PR01415; ANKYRIN.
DR   SMART; SM00248; ANK; 4.
DR   SUPFAM; SSF48403; Ankyrin repeat; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 2.
DR   Genevisible; Q8WVL7; HS.
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
//