E41LA_HUMAN
ID E41LA_HUMAN Reviewed; 686 AA.
AC Q9HCS5; A4FUI6;
DT 11-JUL-2001, integrated into UniProtKB/Swiss-Prot.
DT 23-MAR-2010, sequence version 2.
DT 03-AUG-2022, entry version 160.
DE RecName: Full=Band 4.1-like protein 4A;
DE AltName: Full=Erythrocyte membrane protein band 4.1-like 4A {ECO:0000312|HGNC:HGNC:13278};
DE AltName: Full=Protein NBL4;
GN Name=EPB41L4A {ECO:0000312|HGNC:HGNC:13278}; Synonyms=EPB41L4;
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 GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-638.
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-597.
RX PubMed=10874211; DOI=10.1111/j.1349-7006.2000.tb00987.x;
RA Ishiguro H., Furukawa Y., Daigo Y., Miyoshi Y., Nagasawa Y., Nishiwaki T.,
RA Kawasoe T., Fujita M., Satoh S., Miwa N., Fujii Y., Nakamura Y.;
RT "Isolation and characterization of human NBL4, a gene involved in the beta-
RT catenin/tcf signaling pathway.";
RL Jpn. J. Cancer Res. 91:597-603(2000).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-402, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-304; SER-389 AND SER-393, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in many tissues. High levels of
CC expression in brain, liver, thymus and peripheral blood leukocytes and
CC low levels of expression in heart, kidney, testis and colon.
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DR EMBL; AC010261; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC010265; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104126; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC114632; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC114942; AAI14943.1; -; mRNA.
DR EMBL; AB030240; BAB17229.1; -; mRNA.
DR CCDS; CCDS43350.1; -.
DR RefSeq; NP_001334816.1; NM_001347887.1.
DR RefSeq; NP_071423.4; NM_022140.4.
DR AlphaFoldDB; Q9HCS5; -.
DR SMR; Q9HCS5; -.
DR BioGRID; 122058; 129.
DR IntAct; Q9HCS5; 4.
DR STRING; 9606.ENSP00000261486; -.
DR GlyGen; Q9HCS5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9HCS5; -.
DR PhosphoSitePlus; Q9HCS5; -.
DR BioMuta; EPB41L4A; -.
DR DMDM; 292495006; -.
DR EPD; Q9HCS5; -.
DR jPOST; Q9HCS5; -.
DR MassIVE; Q9HCS5; -.
DR MaxQB; Q9HCS5; -.
DR PaxDb; Q9HCS5; -.
DR PeptideAtlas; Q9HCS5; -.
DR PRIDE; Q9HCS5; -.
DR ProteomicsDB; 81795; -.
DR Antibodypedia; 25339; 115 antibodies from 21 providers.
DR DNASU; 64097; -.
DR Ensembl; ENST00000261486.6; ENSP00000261486.5; ENSG00000129595.14.
DR GeneID; 64097; -.
DR KEGG; hsa:64097; -.
DR MANE-Select; ENST00000261486.6; ENSP00000261486.5; NM_022140.5; NP_071423.4.
DR UCSC; uc003kpv.1; human.
DR CTD; 64097; -.
DR DisGeNET; 64097; -.
DR GeneCards; EPB41L4A; -.
DR HGNC; HGNC:13278; EPB41L4A.
DR HPA; ENSG00000129595; Low tissue specificity.
DR MIM; 612141; gene.
DR neXtProt; NX_Q9HCS5; -.
DR OpenTargets; ENSG00000129595; -.
DR PharmGKB; PA134994123; -.
DR VEuPathDB; HostDB:ENSG00000129595; -.
DR eggNOG; KOG3530; Eukaryota.
DR GeneTree; ENSGT00940000159623; -.
DR HOGENOM; CLU_003623_7_0_1; -.
DR InParanoid; Q9HCS5; -.
DR OMA; TYPKRVA; -.
DR OrthoDB; 241659at2759; -.
DR PhylomeDB; Q9HCS5; -.
DR TreeFam; TF319780; -.
DR PathwayCommons; Q9HCS5; -.
DR SignaLink; Q9HCS5; -.
DR BioGRID-ORCS; 64097; 9 hits in 1079 CRISPR screens.
DR ChiTaRS; EPB41L4A; human.
DR GenomeRNAi; 64097; -.
DR Pharos; Q9HCS5; Tbio.
DR PRO; PR:Q9HCS5; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9HCS5; protein.
DR Bgee; ENSG00000129595; Expressed in palpebral conjunctiva and 154 other tissues.
DR Genevisible; Q9HCS5; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0008092; F:cytoskeletal protein binding; IEA:InterPro.
DR GO; GO:0031032; P:actomyosin structure organization; IBA:GO_Central.
DR CDD; cd14473; FERM_B-lobe; 1.
DR Gene3D; 1.20.80.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR030696; Band4.1-like4A.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR000798; Ez/rad/moesin-like.
DR InterPro; IPR014847; FERM-adjacent.
DR InterPro; IPR014352; FERM/acyl-CoA-bd_prot_sf.
DR InterPro; IPR035963; FERM_2.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR019747; FERM_CS.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR018979; FERM_N.
DR InterPro; IPR018980; FERM_PH-like_C.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR PANTHER; PTHR23280:SF4; PTHR23280:SF4; 1.
DR Pfam; PF08736; FA; 1.
DR Pfam; PF09380; FERM_C; 1.
DR Pfam; PF00373; FERM_M; 1.
DR Pfam; PF09379; FERM_N; 1.
DR PRINTS; PR00935; BAND41.
DR PRINTS; PR00661; ERMFAMILY.
DR SMART; SM00295; B41; 1.
DR SMART; SM01195; FA; 1.
DR SMART; SM01196; FERM_C; 1.
DR SUPFAM; SSF47031; SSF47031; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS00660; FERM_1; 1.
DR PROSITE; PS00661; FERM_2; 1.
DR PROSITE; PS50057; FERM_3; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Cytoskeleton; Phosphoprotein; Reference proteome.
FT CHAIN 1..686
FT /note="Band 4.1-like protein 4A"
FT /id="PRO_0000219401"
FT DOMAIN 11..299
FT /note="FERM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00084"
FT REGION 331..686
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 331..378
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 397..411
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 412..433
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 453..476
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 490..506
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 517..534
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 541..566
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 598..618
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 654..686
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 304
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 389
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 393
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 402
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983"
FT VARIANT 132
FT /note="V -> I (in dbSNP:rs34008454)"
FT /id="VAR_055537"
FT CONFLICT 366
FT /note="S -> T (in Ref. 3; BAB17229)"
FT /evidence="ECO:0000305"
FT CONFLICT 411..413
FT /note="HAP -> LMHS (in Ref. 3; BAB17229)"
FT /evidence="ECO:0000305"
FT CONFLICT 495
FT /note="Y -> H (in Ref. 3; BAB17229)"
FT /evidence="ECO:0000305"
FT CONFLICT 564
FT /note="S -> F (in Ref. 2; AAI14943)"
FT /evidence="ECO:0000305"
FT CONFLICT 589
FT /note="R -> T (in Ref. 3; BAB17229)"
FT /evidence="ECO:0000305"
FT CONFLICT 595..596
FT /note="RS -> KL (in Ref. 3; BAB17229)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 686 AA; 79059 MW; 4EDC84D0FD2B99EC CRC64;
MGCFCAVPEE FYCEVLLLDE SKLTLTTQQQ GIKKSTKGSV VLDHVFHHVN LVEIDYFGLR
YCDRSHQTYW LDPAKTLAEH KELINTGPPY TLYFGIKFYA EDPCKLKEEI TRYQFFLQVK
QDVLQGRLPC PVNTAAQLGA YAIQSELGDY DPYKHTAGYV SEYRFVPDQK EELEEAIERI
HKTLMGQIPS EAELNYLRTA KSLEMYGVDL HPVYGENKSE YFLGLTPVGV VVYKNKKQVG
KYFWPRITKV HFKETQFELR VLGKDCNETS FFFEARSKTA CKHLWKCSVE HHTFFRMPEN
ESNSLSRKLS KFGSIRYKHR YSGRTALQMS RDLSIQLPRP DQNVTRSRSK TYPKRIAQTQ
PAESNSISRI TANMENGENE GTIKIIAPSP VKSFKKAKNE NSPDTQRSKS HAPWEENGPQ
SGLYNSPSDR TKSPKFPYTR RRNPSCGSDN DSVQPVRRRK AHNSGEDSDL KQRRRSRSRC
NTSSGSESEN SNREYRKKRN RIRQENDMVD SAPQWEAVLR RQKEKNQADP NNRRSRHRSR
SRSPDIQAKE ELWKHIQKEL VDPSGLSEEQ LKEIPYTKIE TQGDPIRIRH SHSPRSYRQY
RRSQCSDGER SVLSEVNSKT DLVPPLPVTR SSDAQGSGDA TVHQRRNGSK DSLMEEKPQT
STNNLAGKHT AKTIKTIQAS RLKTET
