GenomeNet

Database: UniProt
Entry: Q5JYL1_HUMAN
LinkDB: Q5JYL1_HUMAN
Original site: Q5JYL1_HUMAN 
ID   Q5JYL1_HUMAN            Unreviewed;       213 AA.
AC   Q5JYL1;
DT   15-FEB-2005, integrated into UniProtKB/TrEMBL.
DT   05-OCT-2016, sequence version 8.
DT   27-MAR-2024, entry version 124.
DE   SubName: Full=Espin {ECO:0000313|Ensembl:ENSP00000401793.1};
DE   Flags: Fragment;
GN   Name=ESPN {ECO:0000313|Ensembl:ENSP00000401793.1};
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 {ECO:0000313|Ensembl:ENSP00000401793.1, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000401793.1, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H.,
RA   Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA   Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C.,
RA   Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R.,
RA   Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A.,
RA   Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.,
RA   Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.,
RA   Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R.,
RA   Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D.,
RA   Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A.,
RA   Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA   Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA   Mashreghi-Mohammadi M., Matthews L., Matthews N.S., McLaren S., Milne S.,
RA   Mistry S., Moore M.J., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A.,
RA   Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S.,
RA   Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G.,
RA   Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S.,
RA   Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A.,
RA   Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L.,
RA   Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z.,
RA   Coulson A., Vaudin M., Sulston J.E., Durbin R., Hubbard T., Wooster R.,
RA   Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA   Beck S., Rogers J., Bentley D.R., Banerjee R., Bryant S.P., Burford D.C.,
RA   Burrill W.D., Clegg S.M., Dhami P., Dovey O., Faulkner L.M., Gribble S.M.,
RA   Langford C.F., Pandian R.D., Porter K.M., Prigmore E.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [2] {ECO:0000313|Ensembl:ENSP00000401793.1}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (NOV-2023) to UniProtKB.
CC   -!- SUBCELLULAR LOCATION: Cell projection, stereocilium
CC       {ECO:0000256|ARBA:ARBA00004645}.
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DR   EMBL; AL031848; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL158217; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   AlphaFoldDB; Q5JYL1; -.
DR   SMR; Q5JYL1; -.
DR   MassIVE; Q5JYL1; -.
DR   PeptideAtlas; Q5JYL1; -.
DR   ProteomicsDB; 63506; -.
DR   Antibodypedia; 27332; 111 antibodies from 23 providers.
DR   Ensembl; ENST00000418286.1; ENSP00000401793.1; ENSG00000187017.18.
DR   UCSC; uc057buh.1; human.
DR   HGNC; HGNC:13281; ESPN.
DR   VEuPathDB; HostDB:ENSG00000187017; -.
DR   GeneTree; ENSGT00940000160408; -.
DR   HOGENOM; CLU_1296995_0_0_1; -.
DR   ChiTaRS; ESPN; human.
DR   Proteomes; UP000005640; Chromosome 1.
DR   Bgee; ENSG00000187017; Expressed in right testis and 139 other cell types or tissues.
DR   ExpressionAtlas; Q5JYL1; baseline and differential.
DR   GO; GO:0032420; C:stereocilium; IEA:UniProtKB-SubCell.
DR   GO; GO:0007605; P:sensory perception of sound; 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; PTHR24153; ESPIN; 1.
DR   PANTHER; PTHR24153:SF14; ESPIN ISOFORM X1; 1.
DR   Pfam; PF00023; Ank; 1.
DR   Pfam; PF12796; Ank_2; 1.
DR   PRINTS; PR01415; ANKYRIN.
DR   SMART; SM00248; ANK; 2.
DR   SUPFAM; SSF48403; Ankyrin repeat; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 3.
DR   PROSITE; PS50088; ANK_REPEAT; 3.
PE   1: Evidence at protein level;
KW   Actin-binding {ECO:0000256|ARBA:ARBA00023203};
KW   ANK repeat {ECO:0000256|PROSITE-ProRule:PRU00023};
KW   Cell projection {ECO:0000256|ARBA:ARBA00023273};
KW   Hearing {ECO:0000256|ARBA:ARBA00022740};
KW   Proteomics identification {ECO:0007829|PeptideAtlas:Q5JYL1,
KW   ECO:0007829|ProteomicsDB:Q5JYL1};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Repeat {ECO:0000256|ARBA:ARBA00022737}.
FT   REPEAT          1..26
FT                   /note="ANK"
FT                   /evidence="ECO:0000256|PROSITE-ProRule:PRU00023"
FT   REPEAT          24..53
FT                   /note="ANK"
FT                   /evidence="ECO:0000256|PROSITE-ProRule:PRU00023"
FT   REPEAT          56..88
FT                   /note="ANK"
FT                   /evidence="ECO:0000256|PROSITE-ProRule:PRU00023"
FT   REGION          123..144
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   NON_TER         1
FT                   /evidence="ECO:0000313|Ensembl:ENSP00000401793.1"
FT   NON_TER         213
FT                   /evidence="ECO:0000313|Ensembl:ENSP00000401793.1"
SQ   SEQUENCE   213 AA;  22761 MW;  EB081053DED4277D CRC64;
     DGMTPLHAAA QMGHSPVIVW LDKDGATAMH FAASRGHTKV LSWLLLHGGE ISADLWGGTP
     LHDAAENGEL ECCQILVVNG AELDVRDRDG YTAADLSDFN GHSHCTRYLR TVENLSVEHR
     VLSRDPSAEL EAKQPDSGMS SPNTTVSVQP LNFDLSSPTS TLSNYDSCSS SHSSIKGQHP
     PCGLSSARAA DIQSYMDMLN PELGLPRGTI GKP
//
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