ID   ANKF1_HUMAN             Reviewed;        1146 AA.
AC   Q8N957; A0A804HJ58;
DT   25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT   03-MAY-2023, sequence version 3.
DT   27-MAR-2024, entry version 142.
DE   RecName: Full=Ankyrin repeat and fibronectin type-III domain-containing protein 1;
GN   Name=ANKFN1 {ECO:0000312|HGNC:HGNC:26766};
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 2), AND VARIANT ILE-442.
RC   TISSUE=Brain;
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 GENOMIC DNA].
RX   PubMed=16625196; DOI=10.1038/nature04689;
RA   Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA   Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA   Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA   Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA   DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA   Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA   Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA   LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA   Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA   Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA   Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA   Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA   Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT   "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT   human lineage.";
RL   Nature 440:1045-1049(2006).
CC   -!- FUNCTION: May play a role in neuronal function.
CC       {ECO:0000250|UniProtKB:A0A571BF63}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8N957-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8N957-2; Sequence=VSP_061839, VSP_061840, VSP_061841;
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DR   EMBL; AK095654; BAC04599.1; -; mRNA.
DR   EMBL; AC006600; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC006925; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC015724; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC011073; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC090618; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS32686.1; -. [Q8N957-2]
DR   CCDS; CCDS92363.1; -. [Q8N957-1]
DR   RefSeq; NP_694960.2; NM_153228.2. [Q8N957-2]
DR   AlphaFoldDB; Q8N957; -.
DR   STRING; 9606.ENSP00000321627; -.
DR   iPTMnet; Q8N957; -.
DR   PhosphoSitePlus; Q8N957; -.
DR   BioMuta; ANKFN1; -.
DR   DMDM; 269849542; -.
DR   jPOST; Q8N957; -.
DR   MassIVE; Q8N957; -.
DR   PaxDb; 9606-ENSP00000321627; -.
DR   PeptideAtlas; Q8N957; -.
DR   ProteomicsDB; 72490; -.
DR   Antibodypedia; 18285; 19 antibodies from 8 providers.
DR   DNASU; 162282; -.
DR   Ensembl; ENST00000318698.6; ENSP00000321627.2; ENSG00000153930.13. [Q8N957-2]
DR   Ensembl; ENST00000682825.1; ENSP00000507365.1; ENSG00000153930.13. [Q8N957-1]
DR   GeneID; 162282; -.
DR   KEGG; hsa:162282; -.
DR   MANE-Select; ENST00000682825.1; ENSP00000507365.1; NM_001370326.1; NP_001357255.1.
DR   UCSC; uc002iun.1; human. [Q8N957-1]
DR   AGR; HGNC:26766; -.
DR   CTD; 162282; -.
DR   DisGeNET; 162282; -.
DR   GeneCards; ANKFN1; -.
DR   HGNC; HGNC:26766; ANKFN1.
DR   HPA; ENSG00000153930; Tissue enhanced (cervix, fallopian tube).
DR   neXtProt; NX_Q8N957; -.
DR   OpenTargets; ENSG00000153930; -.
DR   PharmGKB; PA142672624; -.
DR   VEuPathDB; HostDB:ENSG00000153930; -.
DR   eggNOG; KOG4485; Eukaryota.
DR   GeneTree; ENSGT00940000159856; -.
DR   HOGENOM; CLU_010667_0_0_1; -.
DR   InParanoid; Q8N957; -.
DR   OMA; SINWNCC; -.
DR   OrthoDB; 5477417at2759; -.
DR   PhylomeDB; Q8N957; -.
DR   TreeFam; TF314968; -.
DR   PathwayCommons; Q8N957; -.
DR   SignaLink; Q8N957; -.
DR   BioGRID-ORCS; 162282; 12 hits in 1144 CRISPR screens.
DR   ChiTaRS; ANKFN1; human.
DR   GenomeRNAi; 162282; -.
DR   Pharos; Q8N957; Tdark.
DR   PRO; PR:Q8N957; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; Q8N957; Protein.
DR   Bgee; ENSG00000153930; Expressed in buccal mucosa cell and 122 other cell types or tissues.
DR   ExpressionAtlas; Q8N957; baseline and differential.
DR   GO; GO:0005819; C:spindle; IBA:GO_Central.
DR   GO; GO:0000132; P:establishment of mitotic spindle orientation; IBA:GO_Central.
DR   GO; GO:0061172; P:regulation of establishment of bipolar cell polarity; IBA:GO_Central.
DR   CDD; cd00063; FN3; 1.
DR   Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 1.
DR   Gene3D; 2.60.40.10; Immunoglobulins; 1.
DR   InterPro; IPR039269; ANKFN1.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR   InterPro; IPR003961; FN3_dom.
DR   InterPro; IPR036116; FN3_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   PANTHER; PTHR21437:SF3; ANKYRIN-REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING 1; 1.
DR   PANTHER; PTHR21437; UNCHARACTERIZED; 1.
DR   Pfam; PF13637; Ank_4; 1.
DR   Pfam; PF00041; fn3; 1.
DR   SMART; SM00248; ANK; 2.
DR   SMART; SM00060; FN3; 1.
DR   SUPFAM; SSF48403; Ankyrin repeat; 1.
DR   SUPFAM; SSF49265; Fibronectin type III; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 1.
DR   PROSITE; PS50853; FN3; 1.
DR   Genevisible; Q8N957; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; ANK repeat; Reference proteome; Repeat.
FT   CHAIN           1..1146
FT                   /note="Ankyrin repeat and fibronectin type-III domain-
FT                   containing protein 1"
FT                   /id="PRO_0000247138"
FT   REPEAT          133..162
FT                   /note="ANK 1"
FT   REPEAT          170..199
FT                   /note="ANK 2"
FT   DOMAIN          270..366
FT                   /note="Fibronectin type-III"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT   REGION          607..614
FT                   /note="Highly conserved peptide sequence"
FT                   /evidence="ECO:0000250|UniProtKB:A0A571BF63"
FT   REGION          855..887
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          945..964
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1106..1146
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1115..1146
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..4
FT                   /note="MNEK -> MEASLTR (in isoform 2)"
FT                   /id="VSP_061839"
FT   VAR_SEQ         754..760
FT                   /note="VHFCSYR -> GIVACFT (in isoform 2)"
FT                   /id="VSP_061840"
FT   VAR_SEQ         761..1146
FT                   /note="Missing (in isoform 2)"
FT                   /id="VSP_061841"
FT   VARIANT         442
FT                   /note="V -> I (in dbSNP:rs10852985)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_060725"
SQ   SEQUENCE   1146 AA;  129670 MW;  BA9D2523A22B62BD CRC64;
     MNEKRLLFKD RHFTCSKIIG RRFACFAQRL SHRRKQSQCD LLNESTGQLP TTCSSAASNS
     INWNCRVKMT QQMQNLHLCQ SKKHSAPSSP NAAKRLYRNL SEKLKGSHSS FDEAYFRTRT
     DRLSLRKTSV NFQGNEAMFE AVEQQDMDAV QILLYQYTPE ELDLNTPNSE GLTPLDIAIM
     TNNVPIARIL LRTGARESPH FVSLESRAMH LNTLVQEAQE RVSELSAQVE NEGFTLDNTE
     KEKQLKAWEW RYRLYRRMKT GFEHARAPEM PTNVCLMVTS STSLTVSFQE PLSVNAAVVT
     RYKVEWSMSE DFSPLAGEII MDNLQTLRCT ITGLTMGQQY FVQVSAYNMK GWGPAQTTTP
     ACASPSNWKD YDDREPRHKG QSEVLEGLLQ QVRALHQHYS CRESTKLQTT GRKQSVSRSL
     KHLFHSSNKF VKTLKRGLYI AVIFYYKDNI LVTNEDQVPI VEIDDSHTSS ITQDFLWFTK
     LSCMWEDIRW LRQSIPISSS SSTVLQTRQK MLAATAQLQN LLGTHNLGRV YYEPIKDRHG
     NILIVTIREV EMLYSFFNGK WMQISKLQSQ RKSLSTPEEP TALDILLITI QDILSYHKRS
     HQRLFPGLYL GYLKLCSSVD QIKVLVTQKL PNILCHVKIR ENNNISREEW EWIQKLSGSE
     SMESVDHTSD CPMQLFFYEL QMAVKALLQQ INIPLHQARN FRLYTQEVLE MGHNVSFLLL
     LPASDDVCTA PGQNNPYTPH SGFLNLPLQM FELVHFCSYR EKFISLYCRL SAVVELDSLN
     TQQSLREAIS DSEVAAAKQR HQQVLDFIQQ IDEVWREMRW IMDALQYARY KQPVSGLPIT
     KLIDPSDEQS LKKINSTSSS HIDCLPSPPP SPEMHRRKTV SDSQPCSDEE ACSEVFLPTN
     SDYDSSDALS PRDLDLVYLS SHDIAQQTLS GLSGSAPDVL QVHDVKTPLG PGQDPQGEGP
     NPDHSCAEFL HSLTLTGFTP KNHAKTVSGG RPPLGFLGKR KPGKHPHYGG FSRHHRWLRI
     HSETQSLSLS EGIYTQHLSQ ACGLAQEPKE AKRAGPALDD PRGLTLAHAA SLPEERNSSL
     QDARPSVRRL YVEPYAAAVV AQDEKPWASL SPPSGGRITL PSPTGPDVSQ EGPTASPMSE
     ILSSML
//