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SWAHD_HUMAN
ID   SWAHD_HUMAN             Reviewed;         315 AA.
AC   A6NJG2;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   24-JUL-2007, sequence version 1.
DT   03-AUG-2022, entry version 104.
DE   RecName: Full=Ankyrin repeat domain-containing protein SOWAHD;
DE   AltName: Full=Ankyrin repeat domain-containing protein 58;
DE   AltName: Full=Protein sosondowah homolog D;
GN   Name=SOWAHD; Synonyms=ANKRD58;
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].
RC   TISSUE=Placenta;
RA   Li W.B., Gruber C., Jessee J., Polayes D.;
RT   "Full-length cDNA libraries and normalization.";
RL   Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15772651; DOI=10.1038/nature03440;
RA   Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA   Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA   Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA   Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA   Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA   Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA   Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA   Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA   Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA   Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA   Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA   Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA   Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA   Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA   Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA   Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA   Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA   Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA   Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA   Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA   Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA   Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA   Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA   Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA   Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA   Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA   Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA   Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA   Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA   Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA   McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA   Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA   Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA   Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA   Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA   Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA   Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA   Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA   Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA   Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA   d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA   Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA   Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA   Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA   Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA   Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA   Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA   Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA   Rogers J., Bentley D.R.;
RT   "The DNA sequence of the human X chromosome.";
RL   Nature 434:325-337(2005).
CC   -!- SIMILARITY: Belongs to the SOWAH family. {ECO:0000305}.
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DR   EMBL; CR593492; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AC005052; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS43984.1; -.
DR   RefSeq; NP_001099046.1; NM_001105576.2.
DR   AlphaFoldDB; A6NJG2; -.
DR   SMR; A6NJG2; -.
DR   IntAct; A6NJG2; 1.
DR   MINT; A6NJG2; -.
DR   STRING; 9606.ENSP00000340975; -.
DR   iPTMnet; A6NJG2; -.
DR   PhosphoSitePlus; A6NJG2; -.
DR   BioMuta; SOWAHD; -.
DR   EPD; A6NJG2; -.
DR   MassIVE; A6NJG2; -.
DR   MaxQB; A6NJG2; -.
DR   PaxDb; A6NJG2; -.
DR   PeptideAtlas; A6NJG2; -.
DR   PRIDE; A6NJG2; -.
DR   ProteomicsDB; 1333; -.
DR   Antibodypedia; 56549; 74 antibodies from 15 providers.
DR   DNASU; 347454; -.
DR   Ensembl; ENST00000343905.5; ENSP00000340975.3; ENSG00000187808.5.
DR   GeneID; 347454; -.
DR   KEGG; hsa:347454; -.
DR   MANE-Select; ENST00000343905.5; ENSP00000340975.3; NM_001105576.3; NP_001099046.1.
DR   UCSC; uc010nql.4; human.
DR   CTD; 347454; -.
DR   GeneCards; SOWAHD; -.
DR   HGNC; HGNC:32960; SOWAHD.
DR   HPA; ENSG00000187808; Tissue enhanced (intestine, lymphoid tissue, testis).
DR   neXtProt; NX_A6NJG2; -.
DR   OpenTargets; ENSG00000187808; -.
DR   PharmGKB; PA145149865; -.
DR   VEuPathDB; HostDB:ENSG00000187808; -.
DR   eggNOG; ENOG502QPPI; Eukaryota.
DR   GeneTree; ENSGT00950000183003; -.
DR   HOGENOM; CLU_083908_0_0_1; -.
DR   InParanoid; A6NJG2; -.
DR   OMA; HMFPFFQ; -.
DR   OrthoDB; 1531345at2759; -.
DR   PhylomeDB; A6NJG2; -.
DR   TreeFam; TF331362; -.
DR   PathwayCommons; A6NJG2; -.
DR   SignaLink; A6NJG2; -.
DR   BioGRID-ORCS; 347454; 4 hits in 692 CRISPR screens.
DR   GenomeRNAi; 347454; -.
DR   Pharos; A6NJG2; Tdark.
DR   PRO; PR:A6NJG2; -.
DR   Proteomes; UP000005640; Chromosome X.
DR   RNAct; A6NJG2; protein.
DR   Bgee; ENSG00000187808; Expressed in granulocyte and 81 other tissues.
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   SMART; SM00248; ANK; 3.
DR   SUPFAM; SSF48403; SSF48403; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 1.
PE   2: Evidence at transcript level;
KW   ANK repeat; Reference proteome; Repeat.
FT   CHAIN           1..315
FT                   /note="Ankyrin repeat domain-containing protein SOWAHD"
FT                   /id="PRO_0000315705"
FT   REPEAT          112..141
FT                   /note="ANK 1"
FT   REPEAT          147..162
FT                   /note="ANK 2"
FT   REPEAT          186..216
FT                   /note="ANK 3"
FT   REGION          1..39
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        13..27
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         254
FT                   /note="T -> A (in dbSNP:rs12841259)"
FT                   /id="VAR_061019"
SQ   SEQUENCE   315 AA;  33803 MW;  8123EC387A0883D8 CRC64;
     MAQLGGAANR APTASLAPTS QSLRCAPQPR PSRADTGSLG RYWGKAAAAA SREHPFPGTL
     MHSAAGSGRR RGALRELLGL QRAAPAGWLS EERAEELGGP SGPGSSRLCL EPREHAWILA
     AAEGRYEVLR ELLEAEPELL LRGDPITGYS VLHWLAKHGR HEELILVHDF ALRRGLRLDV
     SAPGSGGLTP LHLAALQGHD MVIKVLVGAL GADATRRDHS GHRACHYLRP DAPWRLRELS
     GAEEWEMESG SGCTNLNNNS SGTTAWRAAS AVGATAVETS RRVAASRTKA KDTAGSRVAQ
     MHSLFRHLFP SFQDR
 
 
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