ANR62_HUMAN
ID ANR62_HUMAN Reviewed; 917 AA.
AC A6NC57;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-AUG-2010, sequence version 4.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Ankyrin repeat domain-containing protein 62;
GN Name=ANKRD62;
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 VARIANTS LYS-406
RP AND THR-613.
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A6NC57-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NC57-2; Sequence=VSP_032799;
CC -!- SEQUENCE CAUTION:
CC Sequence=BX649021; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; BX649021; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AP002414; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS67439.1; -. [A6NC57-1]
DR RefSeq; NP_001264262.1; NM_001277333.1. [A6NC57-1]
DR AlphaFoldDB; A6NC57; -.
DR SMR; A6NC57; -.
DR IntAct; A6NC57; 1.
DR STRING; 9606.ENSP00000467740; -.
DR GlyConnect; 2020; 1 N-Linked glycan (1 site).
DR GlyGen; A6NC57; 1 site, 2 N-linked glycans (1 site).
DR iPTMnet; A6NC57; -.
DR PhosphoSitePlus; A6NC57; -.
DR BioMuta; ANKRD62; -.
DR EPD; A6NC57; -.
DR MassIVE; A6NC57; -.
DR PaxDb; A6NC57; -.
DR PRIDE; A6NC57; -.
DR ProteomicsDB; 801; -. [A6NC57-1]
DR ProteomicsDB; 802; -. [A6NC57-2]
DR Antibodypedia; 71581; 17 antibodies from 8 providers.
DR DNASU; 342850; -.
DR Ensembl; ENST00000587848.3; ENSP00000467740.2; ENSG00000181626.12. [A6NC57-1]
DR GeneID; 342850; -.
DR KEGG; hsa:342850; -.
DR MANE-Select; ENST00000587848.3; ENSP00000467740.2; NM_001277333.2; NP_001264262.1.
DR UCSC; uc031rhk.2; human. [A6NC57-1]
DR CTD; 342850; -.
DR GeneCards; ANKRD62; -.
DR HGNC; HGNC:35241; ANKRD62.
DR HPA; ENSG00000181626; Group enriched (brain, pancreas, testis).
DR neXtProt; NX_A6NC57; -.
DR VEuPathDB; HostDB:ENSG00000181626; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000153661; -.
DR HOGENOM; CLU_001111_3_0_1; -.
DR InParanoid; A6NC57; -.
DR OMA; DHDQCQS; -.
DR OrthoDB; 305292at2759; -.
DR PhylomeDB; A6NC57; -.
DR TreeFam; TF333496; -.
DR PathwayCommons; A6NC57; -.
DR SignaLink; A6NC57; -.
DR BioGRID-ORCS; 342850; 6 hits in 1040 CRISPR screens.
DR GenomeRNAi; 342850; -.
DR Pharos; A6NC57; Tdark.
DR PRO; PR:A6NC57; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; A6NC57; protein.
DR Bgee; ENSG00000181626; Expressed in body of pancreas and 10 other tissues.
DR Gene3D; 1.25.40.20; -; 2.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR039497; CC144C-like_CC_dom.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF14915; CCDC144C; 1.
DR SMART; SM00248; ANK; 5.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Coiled coil; Reference proteome; Repeat.
FT CHAIN 1..917
FT /note="Ankyrin repeat domain-containing protein 62"
FT /id="PRO_0000328818"
FT REPEAT 71..100
FT /note="ANK 1"
FT REPEAT 104..133
FT /note="ANK 2"
FT REPEAT 137..166
FT /note="ANK 3"
FT REPEAT 170..199
FT /note="ANK 4"
FT REPEAT 203..232
FT /note="ANK 5"
FT REGION 265..367
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 439..669
FT /evidence="ECO:0000255"
FT COILED 778..906
FT /evidence="ECO:0000255"
FT COMPBIAS 280..365
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..278
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_032799"
FT VARIANT 188
FT /note="A -> S (in dbSNP:rs1986751)"
FT /id="VAR_042527"
FT VARIANT 265
FT /note="C -> R (in dbSNP:rs6505715)"
FT /id="VAR_042528"
FT VARIANT 406
FT /note="E -> K (in dbSNP:rs4519391)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_042529"
FT VARIANT 613
FT /note="A -> T (in dbSNP:rs7243248)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_042530"
FT CONFLICT 291
FT /note="C -> R (in Ref. 1; BX649021)"
FT /evidence="ECO:0000305"
FT CONFLICT 383
FT /note="S -> P (in Ref. 1; BX649021)"
FT /evidence="ECO:0000305"
FT CONFLICT 434
FT /note="D -> G (in Ref. 1; BX649021)"
FT /evidence="ECO:0000305"
FT CONFLICT 481
FT /note="L -> H (in Ref. 1; BX649021)"
FT /evidence="ECO:0000305"
FT CONFLICT 599
FT /note="N -> S (in Ref. 1; BX649021)"
FT /evidence="ECO:0000305"
FT CONFLICT 666
FT /note="D -> G (in Ref. 1; BX649021)"
FT /evidence="ECO:0000305"
FT CONFLICT 829
FT /note="N -> D (in Ref. 1; BX649021)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 917 AA; 106446 MW; 9D595F409A828860 CRC64;
MEVRGSFLAA CRRRMATWRK NRDKDGFSNP GYRVRQKDLG MIHKAAIAGD VNKVMESILL
RLNDLNDRDK KNRTALLLAC AHGRPGVVAD LVARKCQLNL TDSENRTALI KAVQCQEEVC
ASILLEHGAN PNVRDMYGNT ALHYAIDNEN ISMARKLLAY GADIEARSQD GHTSLLLAVN
RKKEQMVAFL LKKKPDLTAI DNFGRTALIL AARNGSTSVV YQLLQHNIDV FCQDISGWTA
EDYAVASKFQ AIRGMISEYK ANKRCKSLQN SNSEQDLEMT SEGEQERLEG CESSQPQVEE
KMKKCRNKKM EVSRNVHADD SDNYNDDVDE LIHKIKNRKP DNHQSPGKEN GEFDRLARKT
SNEKSKVKSQ IYFTDDLNDI SGSSEKTSED DELPYSDDEN FMLLIEQSGM ECKDFVSLSK
SKNATAACGR SIEDQKCYCE RLKVKFQKMK NNISVLQKVL SETDKTKSQS EHQNLQGKKK
LCNLRFILQQ QEEERIKAEE LYEKDIEELK IMEEQYRTQT EVKKQSKLTL KSLEVELKTV
RSNSNQNFHT HERERDLWQE NHLMRDEIAR LRLEIDTIKH QNQETENKYF KDIEIIKENN
EDLEKTLKRN EEALTKTITR YSKELNVLMD ENTMLNSELQ KEKQSMSRLE TEMESYRCRL
AAALCDHDQR QSSKRDLQLA FQSTVNEWCH LQEDTNSHIQ ILSQQLSKAE STSSGLETEL
HYEREALKEK TLHIEHMQGV LSRTQRRLED IEHMYQNDQP ILEKYVRKQQ SVEDGLFQLQ
SQNLLYQQQC NDARKKADNQ EKTIINIQVK CEDTVEKLQA ECRKLEENNK GLMKECTLLK
ERQCQYEKEK EEREVVRRQL QREVDDALNK QLLLEAMLEI SSERRINLED EAQSLKKKLG
QMRSQVCMKL SMSTVTL
