LOCUS       NP_597707                656 aa            linear   PRI 28-APR-2025
DEFINITION  ankyrin repeat and SAM domain-containing protein 3 isoform 1 [Homo
            sapiens].
ACCESSION   NP_597707 XP_375299
VERSION     NP_597707.1
DBSOURCE    REFSEQ: accession NM_133450.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 656)
  AUTHORS   Shamseldin,H.E., Yakulov,T.A., Hashem,A., Walz,G. and Alkuraya,F.S.
  TITLE     ANKS3 is mutated in a family with autosomal recessive laterality
            defect
  JOURNAL   Hum Genet 135 (11), 1233-1239 (2016)
   PUBMED   27417436
  REMARK    GeneRIF: Consistent with the proposed role of the ANKS3 variant in
            the pathogenesis of the reported family's phenotype, we show that
            the mutant RNA failed to rescue the laterality defect in anks3
            morphants compared to wild-type RNA. Furthermore, we describe a new
            mutant anks3 line that also displays laterality defect in the
            homozygous state
REFERENCE   2  (residues 1 to 656)
  AUTHORS   Ramachandran,H., Engel,C., Muller,B., Dengjel,J., Walz,G. and
            Yakulov,T.A.
  TITLE     Anks3 alters the sub-cellular localization of the Nek7 kinase
  JOURNAL   Biochem Biophys Res Commun 464 (3), 901-907 (2015)
   PUBMED   26188091
REFERENCE   3  (residues 1 to 656)
  AUTHORS   Leettola,C.N., Knight,M.J., Cascio,D., Hoffman,S. and Bowie,J.U.
  TITLE     Characterization of the SAM domain of the PKD-related protein ANKS6
            and its interaction with ANKS3
  JOURNAL   BMC Struct Biol 14, 17 (2014)
   PUBMED   24998259
  REMARK    GeneRIF: Study finds that ANKS3-SAM polymerizes and ANKS6-SAM can
            bind to one end of the polymer; study presents crystal structures
            of both the ANKS3-SAM polymer and the ANKS3-SAM/ANKS6-SAM complex,
            revealing the molecular details of their association.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 656)
  AUTHORS   Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   5  (residues 1 to 656)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020663.1, AK123496.1 and AI560632.1.
            
            On Mar 22, 2004 this sequence version replaced XP_375299.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK123496.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304283.9/ ENSP00000304586.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..656
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..656
                     /product="ankyrin repeat and SAM domain-containing protein
                     3 isoform 1"
                     /note="ankyrin repeat and SAM domain-containing protein 3"
                     /calculated_mol_wt=71907
     Region          1..422
                     /region_name="Interaction with NEK7.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            2
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5M9H0; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            5
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5M9H0; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Region          38..220
                     /region_name="ANKYR"
                     /note="Ankyrin repeat [Signal transduction mechanisms];
                     COG0666"
                     /db_xref="CDD:440430"
     Region          39..66
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          69..99
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            order(70,74..75,78..80,82..83,87,90,99,101,103,107..108,
                     111..113,115..116,120,123,132,134,136,140..141,144..146,
                     148..149,153,156)
                     /site_type="other"
                     /note="oligomer interface [polypeptide binding]"
                     /db_xref="CDD:293786"
     Site            96
                     /site_type="hydroxylation"
                     /note="3-hydroxyasparagine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Region          101..132
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          134..164
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Region          168..199
                     /region_name="ANK repeat"
                     /note="ANK repeat [structural motif]"
                     /db_xref="CDD:293786"
     Site            201
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            225
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Region          235..265
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            243
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            244
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            245
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Region          277..312
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            319
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            320
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Region          346..425
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            368
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Site            375
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     Region          424..487
                     /region_name="SAM_ANKS3"
                     /note="SAM domain of ANKS3 subfamily; cd09519"
                     /db_xref="CDD:188918"
     Site            541
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9CZK6; propagated from
                     UniProtKB/Swiss-Prot (Q6ZW76.1)"
     CDS             1..656
                     /gene="ANKS3"
                     /coded_by="NM_133450.4:405..2375"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10520.1"
                     /db_xref="GeneID:124401"
                     /db_xref="HGNC:HGNC:29422"
                     /db_xref="MIM:617310"
ORIGIN      
        1 mselsdease pellnrslsm whglgtqvsg eeldvpldlh taasigqyev vkecvqrrel
       61 dlnkkngggw tplmyasyig hdtivhllle agvsvnvptp egqtplmlas scgnesiayf
      121 llqqgaelem kdiqgwtalf hctsaghqhm vrflldsgan anvrepicgf tplmeaaaag
      181 heiivqyfln hgvkvdardh sgatarmlak qyghmkival mdtyspslpk slyrspekye
      241 dlsssdescp apqrqrpcrk kgvsihegpr alaritgigl ggraprprye qapprgyvtf
      301 nssgenplee eglccrdvts pinerdvess sssssreeha fcanlgpvqs sssseglara
      361 qglsseasve snedsdhack ssarkqaksy mktknpdsqw ppraatdreg flaesspqtq
      421 rapysgpqdl aalleqigcl kylqvfeeqd vdlrifltlt esdlkeigit lfgpkrkmts
      481 aiarwhssar ppgdalelay adrleaemqe laiqlhkrce eveatrgqvc qeqelravve
      541 sclleqdrar edlqarlret walardaalv ldqlracqae lssrvrqdqp pgaatlglav
      601 ppadskgwqa slqamslpel sgaledrvre mgqalclvtq sleklqvlng kkwret
//
