SPTN5_HUMAN
ID SPTN5_HUMAN Reviewed; 3674 AA.
AC Q9NRC6;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2014, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Spectrin beta chain, non-erythrocytic 5;
DE AltName: Full=Beta-V spectrin;
GN Name=SPTBN5; Synonyms=BSPECV, HUBSPECV, HUSPECV;
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 [MRNA].
RC TISSUE=Cerebellum, Retina, and Spinal cord;
RX PubMed=10764729; DOI=10.1074/jbc.c000159200;
RA Stabach P.R., Morrow J.S.;
RT "Identification and characterization of beta V spectrin, a mammalian
RT ortholog of Drosophila beta H spectrin.";
RL J. Biol. Chem. 275:21385-21395(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP INTERACTION WITH TRPC4.
RX PubMed=18048348; DOI=10.1074/jbc.m709729200;
RA Odell A.F., Van Helden D.F., Scott J.L.;
RT "The spectrin cytoskeleton influences the surface expression and activation
RT of human transient receptor potential channel 4 channels.";
RL J. Biol. Chem. 283:4395-4407(2008).
CC -!- SUBUNIT: Probably associates with an alpha chain. Interacts (via C-
CC terminus) with TRPC4. {ECO:0000269|PubMed:18048348}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Detected
CC prominently in the outer segments of photoreceptor rods and cones and
CC in the basolateral membrane and cytosol of gastric epithelial cells.
CC -!- TISSUE SPECIFICITY: Expressed at very low levels in many tissues, with
CC strongest expression in cerebellum, spinal cord, stomach, pituitary
CC gland, liver, pancreas, salivary gland, kidney, bladder, and heart.
CC -!- SIMILARITY: Belongs to the spectrin family. {ECO:0000305}.
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DR EMBL; AF233523; AAF65317.1; -; mRNA.
DR EMBL; AC020659; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS61599.1; -.
DR RefSeq; NP_057726.4; NM_016642.3.
DR SMR; Q9NRC6; -.
DR BioGRID; 119479; 12.
DR IntAct; Q9NRC6; 7.
DR STRING; 9606.ENSP00000317790; -.
DR iPTMnet; Q9NRC6; -.
DR PhosphoSitePlus; Q9NRC6; -.
DR BioMuta; SPTBN5; -.
DR DMDM; 17369320; -.
DR EPD; Q9NRC6; -.
DR jPOST; Q9NRC6; -.
DR MassIVE; Q9NRC6; -.
DR PaxDb; Q9NRC6; -.
DR PeptideAtlas; Q9NRC6; -.
DR PRIDE; Q9NRC6; -.
DR ProteomicsDB; 82333; -.
DR Antibodypedia; 57995; 52 antibodies from 15 providers.
DR DNASU; 51332; -.
DR Ensembl; ENST00000320955.8; ENSP00000317790.6; ENSG00000137877.10.
DR GeneID; 51332; -.
DR KEGG; hsa:51332; -.
DR MANE-Select; ENST00000320955.8; ENSP00000317790.6; NM_016642.4; NP_057726.4.
DR UCSC; uc001zos.5; human.
DR CTD; 51332; -.
DR DisGeNET; 51332; -.
DR GeneCards; SPTBN5; -.
DR HGNC; HGNC:15680; SPTBN5.
DR HPA; ENSG00000137877; Group enriched (brain, retina).
DR MIM; 605916; gene.
DR neXtProt; NX_Q9NRC6; -.
DR OpenTargets; ENSG00000137877; -.
DR PharmGKB; PA38020; -.
DR VEuPathDB; HostDB:ENSG00000137877; -.
DR eggNOG; KOG0517; Eukaryota.
DR GeneTree; ENSGT00940000161549; -.
DR HOGENOM; CLU_000146_3_1_1; -.
DR InParanoid; Q9NRC6; -.
DR OMA; FMSPEVT; -.
DR OrthoDB; 543832at2759; -.
DR PhylomeDB; Q9NRC6; -.
DR TreeFam; TF313446; -.
DR PathwayCommons; Q9NRC6; -.
DR Reactome; R-HSA-375165; NCAM signaling for neurite out-growth.
DR Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
DR Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
DR Reactome; R-HSA-6807878; COPI-mediated anterograde transport.
DR SignaLink; Q9NRC6; -.
DR BioGRID-ORCS; 51332; 17 hits in 1041 CRISPR screens.
DR ChiTaRS; SPTBN5; human.
DR GeneWiki; SPTBN5; -.
DR GenomeRNAi; 51332; -.
DR Pharos; Q9NRC6; Tbio.
DR PRO; PR:Q9NRC6; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9NRC6; protein.
DR Bgee; ENSG00000137877; Expressed in sural nerve and 101 other tissues.
DR Genevisible; Q9NRC6; HS.
DR GO; GO:0045179; C:apical cortex; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0016020; C:membrane; NAS:UniProtKB.
DR GO; GO:0005875; C:microtubule associated complex; IEA:Ensembl.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:MGI.
DR GO; GO:0097381; C:photoreceptor disc membrane; IDA:MGI.
DR GO; GO:0008091; C:spectrin; NAS:UniProtKB.
DR GO; GO:0003779; F:actin binding; NAS:UniProtKB.
DR GO; GO:0051015; F:actin filament binding; IEA:Ensembl.
DR GO; GO:0034452; F:dynactin binding; IDA:MGI.
DR GO; GO:0045505; F:dynein intermediate chain binding; IDA:MGI.
DR GO; GO:0042802; F:identical protein binding; IPI:MGI.
DR GO; GO:0019894; F:kinesin binding; IDA:MGI.
DR GO; GO:0032029; F:myosin tail binding; IDA:MGI.
DR GO; GO:0002046; F:opsin binding; IEA:Ensembl.
DR GO; GO:0008022; F:protein C-terminus binding; IEA:Ensembl.
DR GO; GO:0043621; F:protein self-association; IDA:MGI.
DR GO; GO:0030507; F:spectrin binding; IDA:MGI.
DR GO; GO:0030036; P:actin cytoskeleton organization; NAS:UniProtKB.
DR GO; GO:0051693; P:actin filament capping; IEA:UniProtKB-KW.
DR GO; GO:0007030; P:Golgi organization; IMP:MGI.
DR GO; GO:0007041; P:lysosomal transport; IMP:MGI.
DR CDD; cd00014; CH; 2.
DR CDD; cd00176; SPEC; 16.
DR Gene3D; 1.10.418.10; -; 2.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR001589; Actinin_actin-bd_CS.
DR InterPro; IPR001715; CH-domain.
DR InterPro; IPR036872; CH_dom_sf.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR018159; Spectrin/alpha-actinin.
DR InterPro; IPR002017; Spectrin_repeat.
DR Pfam; PF00307; CH; 2.
DR Pfam; PF00435; Spectrin; 27.
DR SMART; SM00033; CH; 2.
DR SMART; SM00233; PH; 1.
DR SMART; SM00150; SPEC; 30.
DR SUPFAM; SSF47576; SSF47576; 1.
DR PROSITE; PS00019; ACTININ_1; 1.
DR PROSITE; PS00020; ACTININ_2; 1.
DR PROSITE; PS50021; CH; 2.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Actin capping; Actin-binding; Cytoplasm; Cytoskeleton; Reference proteome;
KW Repeat.
FT CHAIN 1..3674
FT /note="Spectrin beta chain, non-erythrocytic 5"
FT /id="PRO_0000073466"
FT DOMAIN 54..159
FT /note="Calponin-homology (CH) 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00044"
FT DOMAIN 177..282
FT /note="Calponin-homology (CH) 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00044"
FT REPEAT 307..416
FT /note="Spectrin 1"
FT /evidence="ECO:0000255"
FT REPEAT 428..529
FT /note="Spectrin 2"
FT /evidence="ECO:0000255"
FT REPEAT 642..742
FT /note="Spectrin 3"
FT /evidence="ECO:0000255"
FT REPEAT 747..810
FT /note="Spectrin 4"
FT /evidence="ECO:0000255"
FT REPEAT 900..996
FT /note="Spectrin 5"
FT /evidence="ECO:0000255"
FT REPEAT 1103..1206
FT /note="Spectrin 6"
FT /evidence="ECO:0000255"
FT REPEAT 1209..1311
FT /note="Spectrin 7"
FT /evidence="ECO:0000255"
FT REPEAT 1315..1417
FT /note="Spectrin 8"
FT /evidence="ECO:0000255"
FT REPEAT 1521..1624
FT /note="Spectrin 9"
FT /evidence="ECO:0000255"
FT REPEAT 1628..1727
FT /note="Spectrin 10"
FT /evidence="ECO:0000255"
FT REPEAT 1731..1835
FT /note="Spectrin 11"
FT /evidence="ECO:0000255"
FT REPEAT 1842..1940
FT /note="Spectrin 12"
FT /evidence="ECO:0000255"
FT REPEAT 1944..2046
FT /note="Spectrin 13"
FT /evidence="ECO:0000255"
FT REPEAT 2052..2146
FT /note="Spectrin 14"
FT /evidence="ECO:0000255"
FT REPEAT 2150..2253
FT /note="Spectrin 15"
FT /evidence="ECO:0000255"
FT REPEAT 2256..2361
FT /note="Spectrin 16"
FT /evidence="ECO:0000255"
FT REPEAT 2366..2467
FT /note="Spectrin 17"
FT /evidence="ECO:0000255"
FT REPEAT 2471..2574
FT /note="Spectrin 18"
FT /evidence="ECO:0000255"
FT REPEAT 2577..2680
FT /note="Spectrin 19"
FT /evidence="ECO:0000255"
FT REPEAT 2683..2784
FT /note="Spectrin 20"
FT /evidence="ECO:0000255"
FT REPEAT 2791..2890
FT /note="Spectrin 21"
FT /evidence="ECO:0000255"
FT REPEAT 2894..2997
FT /note="Spectrin 22"
FT /evidence="ECO:0000255"
FT REPEAT 3000..3103
FT /note="Spectrin 23"
FT /evidence="ECO:0000255"
FT REPEAT 3106..3209
FT /note="Spectrin 24"
FT /evidence="ECO:0000255"
FT REPEAT 3213..3311
FT /note="Spectrin 25"
FT /evidence="ECO:0000255"
FT REPEAT 3318..3415
FT /note="Spectrin 26"
FT /evidence="ECO:0000255"
FT REPEAT 3422..3488
FT /note="Spectrin 27"
FT /evidence="ECO:0000255"
FT DOMAIN 3533..3641
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..279
FT /note="Actin-binding"
FT REGION 1..37
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1441..1469
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1453..1467
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 1345
FT /note="R -> H (in dbSNP:rs2290559)"
FT /id="VAR_022050"
FT VARIANT 1367
FT /note="R -> T (in dbSNP:rs2290558)"
FT /id="VAR_024395"
FT VARIANT 2862
FT /note="Q -> R (in dbSNP:rs1456235)"
FT /id="VAR_024396"
FT VARIANT 3275
FT /note="A -> G (in dbSNP:rs1197660)"
FT /id="VAR_024397"
FT CONFLICT 433
FT /note="H -> R (in Ref. 1; AAF65317)"
FT /evidence="ECO:0000305"
FT CONFLICT 1035
FT /note="C -> R (in Ref. 1; AAF65317)"
FT /evidence="ECO:0000305"
FT CONFLICT 1053
FT /note="H -> Y (in Ref. 1; AAF65317)"
FT /evidence="ECO:0000305"
FT CONFLICT 3564
FT /note="N -> T (in Ref. 1; AAF65317)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 3674 AA; 416750 MW; 83D1F94ADE670E13 CRC64;
MAGQPHSPRE LLGAAGHRSR RPSTELRVPP SPSLTMDSQY ETGHIRKLQA RHMQMQEKTF
TKWINNVFQC GQAGIKIRNL YTELADGIHL LRLLELISGE ALPPPSRGRL RVHFLENSSR
ALAFLRAKVP VPLIGPENIV DGDQTLILGL IWVIILRFQI SHISLDKEEF GASAALLSTK
EALLVWCQRK TASYTNVNIT DFSRSWSDGL GFNALIHAHR PDLLDYGSLR PDRPLHNLAF
AFLVAEQELG IAQLLDPEDV AAAQPDERSI MTYVSLYYHY CSRLHQGQTV QRRLTKILLQ
LQETELLQTQ YEQLVADLLR WIAEKQMQLE ARDFPDSLPA MRQLLAAFTI FRTQEKPPRL
QQRGAAEALL FRLQTALQAQ NRRPFLPHEG LGLAELSQCW AGLEWAEAAR SQALQQRLLQ
LQRLETLARR FQHKAALRES FLKDAEQVLD QARAPPASLA TVEAAVQRLG MLEAGILPQE
GRFQALAEIA DILRQEQYHS WADVARRQEE VTVRWQRLLQ HLQGQRKQVA DMQAVLSLLQ
EVEAASHQLE ELQEPARSTA CGQQLAEVVE LLQRHDLLEA QVSAHGAHVS HLAQQTAELD
SSLGTSVEVL QAKARTLAQL QQSLVALVRA RRALLEQTLQ RAEFLRNCEE EEAWLKECGQ
RVGNAALGRD LSQIAGALQK HKALEAEVHR HQAVCVDLVR RGRDLSARRP PTQPDPGERA
EAVQGGWQLL QTRVVGRGAR LQTALLVLQY FADAAEAASW LRERRSSLER ASCGQDQAAA
ETLLRRHVRL ERVLRAFAAE LRRLEEQGRA ASARASLFTV NSALSPPGES LRNPGPWSEA
SCHPGPGDAW KMALPAEPDP DFDPNTILQT QDHLSQDYES LRALAQLRRA RLEEAMALFG
FCSSCGELQL WLEKQTVLLQ RVQPQADTLE VMQLKYENFL TALAVGKGLW AEVSSSAEQL
RQRYPGNSTQ IQRQQEELSQ RWGQLEALKR EKAVQLAHSV EVCSFLQECG PTQVQLRDVL
LQLEALQPGS SEDTCHALQL AQKKTLVLER RVHFLQSVVV KVEEPGYAES QPLQGQVETL
QGLLKQVQEQ VAQRARRQAE TQARQSFLQE SQQLLLWAES VQAQLRSKEV SVDVASAQRL
LREHQDLLEE IHLWQERLQQ LDAQSQPMAA LDCPDSQEVP NTLRVLGQQG QELKVLWEQR
QQWLQEGLEL QKFGREVDGF TATCANHQAW LHLDNLGEDV REALSLLQQH REFGRLLSTL
GPRAEALRAH GEKLVQSQHP AAHTVREQLQ SIQAQWTRLQ GRSEQRRRQL LASLQLQEWK
QDVAELMQWM EEKGLMAAHE PSGARRNILQ TLKRHEAAES ELLATRRHVE ALQQVGRELL
SRRPCGQEDI QTRLQGLRSK WEALNRKMTE RGDELQQAGQ QEQLLRQLQD AKEQLEQLEG
ALQSSETGQD LRSSQRLQKR HQQLESESRT LAAKMAALAS MAHGMAASPA ILEETQKHLR
RLELLQGHLA IRGLQLQASV ELHQFCHLSN MELSWVAEHM PHGSPTSYTE CLNGAQSLHR
KHKELQVEVK AHQGQVQRVL SSGRSLAASG HPQAQHIVEQ CQELEGHWAE LERACEARAQ
CLQQAVTFQQ YFLDVSELEG WVEEKRPLVS SRDYGRDEAA TLRLINKHQA LQEELAIYWS
SMEELDQTAQ TLTGPEVPEQ QRVVQERLRE QLRALQELAA TRDRELEGTL RLHEFLREAE
DLQGWLASQK QAAKGGESLG EDPEHALHLC TKFAKFQHQV EMGSQRVAAC RLLAESLLER
GHSAGPMVRQ RQQDLQTAWS ELWELTQARG HALRDTETTL RVHRDLLEVL TQVQEKATSL
PNNVARDLCG LEAQLRSHQG LERELVGTER QLQELLETAG RVQKLCPGPQ AHAVQQRQQA
VTQAWAVLQR RMEQRRAQLE RARLLARFRT AVRDYASWAA RVRQDLQVEE SSQEPSSGPL
KLSAHQWLRA ELEAREKLWQ QATQLGQQAL LAAGTPTKEV QEELRALQDQ RDQVYQTWAR
KQERLQAEQQ EQLFLRECGR LEEILAAQEV SLKTSALGSS VEEVEQLIRK HEVFLKVLTA
QDKKEAALRE RLKTLRRPRV RDRLPILLQR RMRVKELAES RGHALHASLL MASFTQAATQ
AEDWIQAWAQ QLKEPVPPGD LRDKLKPLLK HQAFEAEVQA HEEVMTSVAK KGEALLAQSH
PRAGEVSQRL QGLRKHWEDL RQAMALRGQE LEDRRNFLEF LQRVDLAEAW IQEKEVKMNV
GDLGQDLEHC LQLRRRLREF RGNSAGDTVG DACIRSISDL SLQLKNRDPE EVKIICQRRS
QLNNRWASFH GNLLRYQQQL EGALEIHVLS RELDNVTKRI QEKEALIQAL DCGKDLESVQ
RLLRKHEELE REVHPIQAQV ESLEREVGRL CQRSPEAAHG LRHRQQEVAE SWWQLRSRAQ
KRREALDALH QAQKLQAMLQ ELLVSAQRLR AQMDTSPAPR SPVEARRMLE EHQECKAELD
SWTDSISLAR STGQQLLTAG HPFSSDIRQV LAGLEQELSS LEGAWQEHQL QLQQALELQL
FLSSVEKMER WLCSKEDSLA SEGLWDPLAP MEPLLWKHKM LEWDLEVQAG KISALEATAR
GLHQGGHPEA QSALGRCQAM LLRKEALFRQ AGTRRHRLEE LRQLQAFLQD SQEVAAWLRE
KNLVALEEGL LDTAMLPAQL QKQQNFQAEL DASMHQQQEL QREGQRLLQG GHPASEAIQE
RLEELGALWG ELQDNSQKKV AKLQKACEAL RLRRSMEELE NWLEPIEVEL RAPTVGQALP
GVGELLGTQR ELEAAVDKKA RQAEALLGQA QAFVREGHCL AQDVEEQARR LLQRFKSLRE
PLQERRTALE ARSLLLKFFR DADEEMAWVQ EKLPLAAAQD YGQSLSAVRH LQEQHQNLES
EMSSHEALTR VVLGTGYKLV QAGHFAAHEV AARVQQLEKA MAHLRAEAAR RRLLLQQAQE
AQQFLTELLE AGSWLAERGH VLDSEDMGHS AEATQALLRR LEATKRDLEA FSPRIERLQQ
TAALLESRKN PESPKVLAQL QAVREAHAEL LRRAEARGHG LQEQLQLHQL ERETLLLDAW
LTTKAATAES QDYGQDLEGV KVLEEKFDAF RKEVQSLGQA KVYALRKLAG TLERGAPRRY
PHIQAQRSRI EAAWERLDQA IKARTENLAA AHEVHSFQQA AAELQGRMQE KTALMKGEDG
GHSLSSVRTL QQQHRRLERE LEAMEKEVAR LQTEACRLGQ LHPAAPGGLA KVQEAWATLQ
AKAQERGQWL AQAAQGHAFL GRCQELLAWA QERQELASSE ELAEDVAGAE QLLGQHEELG
QEIRECRLQA QDLRQEGQQL VDNSHFMSAE VTECLQELEG RLQELEEAWA LRWQRCAESW
GLQKLRQRLE QAEAWLACWE GLLLKPDYGH SVSDVELLLH RHQDLEKLLA AQEEKFAQMQ
KTEMEQELLL QPQELKPGRA GSSLTSFQWR PSGHQGLGAQ LAETRDPQDA KGTPTMEGSL
EFKQHLLPGG RQPSSSSWDS CRGNLQGSSL SLFLDERMAA EKVASIALLD LTGARCERLR
GRHGRKHTFS LRLTSGAEIL FAAPSEEQAE SWWRALGSTA AQSLSPKLKA KPVSSLNECT
TKDARPGCLL RSDP
