ESPNL_HUMAN
ID ESPNL_HUMAN Reviewed; 1005 AA.
AC Q6ZVH7; Q66K27; Q6ZVG1; Q8IVU2;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Espin-like protein;
GN Name=ESPNL;
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 1), AND VARIANTS VAL-568;
RP SER-574; ALA-761 AND ARG-829.
RC TISSUE=Cerebellum;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 257-1005 (ISOFORM 2), AND VARIANTS VAL-568; SER-574
RP AND ALA-761.
RC TISSUE=Lymph, and Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Binds to but does not cross-link actin. Required for the
CC formation and maintenance of inner ear hair cell stereocilia and
CC staircase formation. Essential for normal hearing.
CC {ECO:0000250|UniProtKB:Q3UYR4}.
CC -!- SUBUNIT: Interacts with MYO3A (via C-terminus). Interacts with MYO3B
CC (via C-terminus). {ECO:0000250|UniProtKB:Q3UYR4}.
CC -!- INTERACTION:
CC Q6ZVH7; Q5SW96: LDLRAP1; NbExp=3; IntAct=EBI-12831272, EBI-747813;
CC Q6ZVH7; Q99471: PFDN5; NbExp=3; IntAct=EBI-12831272, EBI-357275;
CC Q6ZVH7; Q14140: SERTAD2; NbExp=3; IntAct=EBI-12831272, EBI-2822051;
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium
CC {ECO:0000250|UniProtKB:Q3UYR4}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZVH7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZVH7-2; Sequence=VSP_029859;
CC Name=3;
CC IsoId=Q6ZVH7-3; Sequence=VSP_029858;
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DR EMBL; AK124559; BAC85884.1; -; mRNA.
DR EMBL; AK124612; BAC85900.1; -; mRNA.
DR EMBL; AC016757; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC042051; AAH42051.1; -; mRNA.
DR EMBL; BC080639; AAH80639.1; -; mRNA.
DR CCDS; CCDS2525.1; -. [Q6ZVH7-1]
DR CCDS; CCDS77547.1; -. [Q6ZVH7-3]
DR RefSeq; NP_001295299.1; NM_001308370.1. [Q6ZVH7-3]
DR RefSeq; NP_919288.2; NM_194312.3. [Q6ZVH7-1]
DR AlphaFoldDB; Q6ZVH7; -.
DR SMR; Q6ZVH7; -.
DR BioGRID; 130929; 3.
DR IntAct; Q6ZVH7; 3.
DR STRING; 9606.ENSP00000339115; -.
DR iPTMnet; Q6ZVH7; -.
DR PhosphoSitePlus; Q6ZVH7; -.
DR BioMuta; ESPNL; -.
DR DMDM; 296439358; -.
DR jPOST; Q6ZVH7; -.
DR MassIVE; Q6ZVH7; -.
DR PaxDb; Q6ZVH7; -.
DR PeptideAtlas; Q6ZVH7; -.
DR PRIDE; Q6ZVH7; -.
DR ProteomicsDB; 68416; -. [Q6ZVH7-1]
DR ProteomicsDB; 68417; -. [Q6ZVH7-2]
DR ProteomicsDB; 68418; -. [Q6ZVH7-3]
DR Antibodypedia; 66046; 75 antibodies from 13 providers.
DR DNASU; 339768; -.
DR Ensembl; ENST00000343063.8; ENSP00000339115.3; ENSG00000144488.15. [Q6ZVH7-1]
DR Ensembl; ENST00000409169.5; ENSP00000386577.1; ENSG00000144488.15. [Q6ZVH7-2]
DR Ensembl; ENST00000409506.1; ENSP00000386579.1; ENSG00000144488.15. [Q6ZVH7-3]
DR GeneID; 339768; -.
DR KEGG; hsa:339768; -.
DR MANE-Select; ENST00000343063.8; ENSP00000339115.3; NM_194312.4; NP_919288.2.
DR UCSC; uc002vxq.5; human. [Q6ZVH7-1]
DR CTD; 339768; -.
DR GeneCards; ESPNL; -.
DR HGNC; HGNC:27937; ESPNL.
DR HPA; ENSG00000144488; Tissue enhanced (brain, intestine).
DR neXtProt; NX_Q6ZVH7; -.
DR OpenTargets; ENSG00000144488; -.
DR PharmGKB; PA162385421; -.
DR VEuPathDB; HostDB:ENSG00000144488; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000156970; -.
DR HOGENOM; CLU_017253_0_0_1; -.
DR InParanoid; Q6ZVH7; -.
DR OMA; MPNTDLI; -.
DR PhylomeDB; Q6ZVH7; -.
DR TreeFam; TF326392; -.
DR PathwayCommons; Q6ZVH7; -.
DR Reactome; R-HSA-9662360; Sensory processing of sound by inner hair cells of the cochlea.
DR Reactome; R-HSA-9662361; Sensory processing of sound by outer hair cells of the cochlea.
DR SignaLink; Q6ZVH7; -.
DR BioGRID-ORCS; 339768; 8 hits in 1065 CRISPR screens.
DR ChiTaRS; ESPNL; human.
DR GenomeRNAi; 339768; -.
DR Pharos; Q6ZVH7; Tdark.
DR PRO; PR:Q6ZVH7; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZVH7; protein.
DR Bgee; ENSG00000144488; Expressed in right hemisphere of cerebellum and 112 other tissues.
DR ExpressionAtlas; Q6ZVH7; baseline and differential.
DR Genevisible; Q6ZVH7; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0032426; C:stereocilium tip; ISS:UniProtKB.
DR GO; GO:0051015; F:actin filament binding; ISS:UniProtKB.
DR GO; GO:0051017; P:actin filament bundle assembly; IBA:GO_Central.
DR GO; GO:0007605; P:sensory perception of sound; ISS:UniProtKB.
DR Gene3D; 1.25.40.20; -; 3.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 3.
DR SMART; SM00248; ANK; 10.
DR SUPFAM; SSF48403; SSF48403; 2.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 6.
PE 1: Evidence at protein level;
KW Actin-binding; Alternative splicing; ANK repeat; Cell projection;
KW Coiled coil; Hearing; Reference proteome; Repeat.
FT CHAIN 1..1005
FT /note="Espin-like protein"
FT /id="PRO_0000312511"
FT REPEAT 1..31
FT /note="ANK 1"
FT REPEAT 35..64
FT /note="ANK 2"
FT REPEAT 69..99
FT /note="ANK 3"
FT REPEAT 103..132
FT /note="ANK 4"
FT REPEAT 136..166
FT /note="ANK 5"
FT REPEAT 170..200
FT /note="ANK 6"
FT REPEAT 204..234
FT /note="ANK 7"
FT REPEAT 238..267
FT /note="ANK 8"
FT REPEAT 270..299
FT /note="ANK 9"
FT REGION 333..444
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 462..483
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 616..644
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 695..730
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 773..795
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 517..541
FT /evidence="ECO:0000255"
FT COMPBIAS 333..347
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 366..380
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 469..483
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 626..644
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..368
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029858"
FT VAR_SEQ 286..329
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029859"
FT VARIANT 167
FT /note="R -> Q (in dbSNP:rs34046909)"
FT /id="VAR_037535"
FT VARIANT 568
FT /note="I -> V (in dbSNP:rs13033248)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_037536"
FT VARIANT 574
FT /note="A -> S (in dbSNP:rs13006204)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_037537"
FT VARIANT 761
FT /note="V -> A (in dbSNP:rs4663845)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_037538"
FT VARIANT 829
FT /note="Q -> R (in dbSNP:rs10172220)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_037539"
FT CONFLICT 610
FT /note="V -> M (in Ref. 1; BAC85884 and 3; AAH42051)"
FT /evidence="ECO:0000305"
FT CONFLICT 723
FT /note="S -> P (in Ref. 1; BAC85884)"
FT /evidence="ECO:0000305"
FT CONFLICT 955
FT /note="A -> T (in Ref. 1; BAC85884)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1005 AA; 108132 MW; 8682068F69157685 CRC64;
MEKQRALVAA KDGDVATLER LLEAGALGPG ITDALGAGLV HHATRAGHLD CVKFLVQRAQ
LPGNQRAHNG ATPAHDAAAT GSLAELCWLV REGGCGLQDQ DASGVSPLHL AARFGHPVLV
EWLLHEGHSA TLETREGARP LHHAAVSGDL TCLKLLTAAH GSSVNRRTRS GASPLYLACQ
EGHLHLAQFL VKDCGADVHL RALDGMSALH AAAARGHYSL VVWLVTFTDI GLTARDNEGA
TALHFAARGG HTPILDRLLL MGTPILRDSW GGTPLHDAAE NGQMECCQTL VSHHVDPSLR
DEDGYTAADL AEYHGHRDCA QYLREVAQPV PLLMTPPPPP FPPPPLLATR RSLEDGRRGG
PGPGNPSPMS LSPAWPGHPD QPLPREQMTS PAPPRIITSA TADPEGTETA LAGDTSDGLA
ALQLDGLPSG DIDGLVPTRD ERGQPIPEWK RQVMVRKLQA RLGAESSAEA QDNGGSSGPT
EQAAWRYSQT HQAILGPFGE LLTEDDLVYL EKQIADLQLR RRCQEYESEL GRLAAELQAL
LPEPLVSITV NSHFLPRAPG LEVEEASIPA AEPAGSAEAS EVAPGVQPLP FWCSHISRLV
RSLSLLLKGV HGLVQGDEKP STRPLQDTCR EASASPPRSE AQRQIQEWGV SVRTLRGNFE
SASGPLCGFN PGPCEPGAQH RQCLSGCWPA LPKPRSGLAS GEPRPGDTEE ASDSGISCEE
VPSEAGAAAG PDLASLRKER IIMLFLSHWR RSAYTPALKT VACRTLGARH AGLRGQEAAR
SPGPPSPPSE GPRLGHLWQQ RSTITHLLGN WKAIMAHVPA RQLRRLSRQP RGALSPEQFL
PHVDGAPVPY SSLSLDLFML GYFQLLECDL PAEERKLRHL LCFEVFEHLG THGWEAVRAF
HKAVTDEVAA GRRAWTDGFE DIKARFFGSS QRPAWDTEPG RKSGLTLLGP LPHAAVPCSG
PEPTAQRLGS RSQQGSFNGE DICGYINRSF AFWKEKEAEM FNFGE
