FR1L6_HUMAN
ID FR1L6_HUMAN Reviewed; 1857 AA.
AC Q2WGJ9;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Fer-1-like protein 6;
GN Name=FER1L6; Synonyms=C8orfK23;
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=Kidney;
RA Shimizu N., Asakawa S., Shimizu A., Yamazaki S., Ishikawa S.K.;
RT "Novel gene on human chromosome 8.";
RL Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
CC -!- COFACTOR:
CC Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
CC Evidence={ECO:0000255|PROSITE-ProRule:PRU00041};
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the ferlin family. {ECO:0000305}.
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DR EMBL; AB196633; BAE53435.1; -; mRNA.
DR EMBL; AC090753; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC100871; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS43767.1; -.
DR RefSeq; NP_001034201.2; NM_001039112.2.
DR RefSeq; XP_011515534.1; XM_011517232.2.
DR RefSeq; XP_011515535.1; XM_011517233.2.
DR AlphaFoldDB; Q2WGJ9; -.
DR BioGRID; 576385; 2.
DR IntAct; Q2WGJ9; 1.
DR STRING; 9606.ENSP00000428280; -.
DR GlyConnect; 2040; 2 N-Linked glycans (1 site).
DR GlyGen; Q2WGJ9; 2 sites, 4 N-linked glycans (1 site), 2 O-linked glycans (1 site).
DR iPTMnet; Q2WGJ9; -.
DR PhosphoSitePlus; Q2WGJ9; -.
DR BioMuta; FER1L6; -.
DR DMDM; 262527544; -.
DR jPOST; Q2WGJ9; -.
DR MassIVE; Q2WGJ9; -.
DR PaxDb; Q2WGJ9; -.
DR PeptideAtlas; Q2WGJ9; -.
DR PRIDE; Q2WGJ9; -.
DR ProteomicsDB; 61537; -.
DR Antibodypedia; 65278; 11 antibodies from 7 providers.
DR DNASU; 654463; -.
DR Ensembl; ENST00000522917.5; ENSP00000428280.1; ENSG00000214814.7.
DR GeneID; 654463; -.
DR KEGG; hsa:654463; -.
DR MANE-Select; ENST00000522917.5; ENSP00000428280.1; NM_001039112.2; NP_001034201.2.
DR UCSC; uc003yqw.3; human.
DR CTD; 654463; -.
DR DisGeNET; 654463; -.
DR GeneCards; FER1L6; -.
DR HGNC; HGNC:28065; FER1L6.
DR HPA; ENSG00000214814; Group enriched (intestine, stomach).
DR neXtProt; NX_Q2WGJ9; -.
DR OpenTargets; ENSG00000214814; -.
DR PharmGKB; PA162388227; -.
DR VEuPathDB; HostDB:ENSG00000214814; -.
DR eggNOG; KOG1326; Eukaryota.
DR GeneTree; ENSGT00940000159069; -.
DR HOGENOM; CLU_001183_3_1_1; -.
DR InParanoid; Q2WGJ9; -.
DR OMA; MEDDHGL; -.
DR OrthoDB; 20162at2759; -.
DR PhylomeDB; Q2WGJ9; -.
DR TreeFam; TF316871; -.
DR PathwayCommons; Q2WGJ9; -.
DR SignaLink; Q2WGJ9; -.
DR BioGRID-ORCS; 654463; 10 hits in 1070 CRISPR screens.
DR ChiTaRS; FER1L6; human.
DR GenomeRNAi; 654463; -.
DR Pharos; Q2WGJ9; Tdark.
DR PRO; PR:Q2WGJ9; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q2WGJ9; protein.
DR Bgee; ENSG00000214814; Expressed in rectum and 49 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0007009; P:plasma membrane organization; IBA:GO_Central.
DR GO; GO:0009617; P:response to bacterium; IEA:Ensembl.
DR CDD; cd04011; C2B_Ferlin; 1.
DR CDD; cd04018; C2C_Ferlin; 1.
DR CDD; cd04017; C2D_Ferlin; 1.
DR CDD; cd04037; C2E_Ferlin; 1.
DR CDD; cd08374; C2F_Ferlin; 1.
DR Gene3D; 2.60.40.150; -; 5.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR037720; C2B_Ferlin.
DR InterPro; IPR037722; C2C_Ferlin.
DR InterPro; IPR037723; C2D_Ferlin.
DR InterPro; IPR037724; C2E_Ferlin.
DR InterPro; IPR037725; C2F_Ferlin.
DR InterPro; IPR030000; FER1L6.
DR InterPro; IPR012968; FerIin_dom.
DR InterPro; IPR037721; Ferlin.
DR InterPro; IPR012561; Ferlin_B-domain.
DR InterPro; IPR032362; Ferlin_C.
DR PANTHER; PTHR12546; PTHR12546; 1.
DR PANTHER; PTHR12546:SF37; PTHR12546:SF37; 1.
DR Pfam; PF00168; C2; 6.
DR Pfam; PF08150; FerB; 1.
DR Pfam; PF08151; FerI; 1.
DR Pfam; PF16165; Ferlin_C; 1.
DR SMART; SM00239; C2; 5.
DR SMART; SM01201; FerB; 1.
DR SMART; SM01202; FerI; 1.
DR SUPFAM; SSF49562; SSF49562; 6.
DR PROSITE; PS50004; C2; 6.
PE 2: Evidence at transcript level;
KW Calcium; Membrane; Metal-binding; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..1857
FT /note="Fer-1-like protein 6"
FT /id="PRO_0000323674"
FT TOPO_DOM 1..1824
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 1825..1845
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1846..1857
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT DOMAIN 65..181
FT /note="C2 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 225..356
FT /note="C2 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 810..937
FT /note="C2 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 969..1099
FT /note="C2 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1338..1457
FT /note="C2 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1578..1729
FT /note="C2 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 15..63
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 426..469
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1101..1148
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1161..1203
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1224..1246
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..49
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 426..448
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1105..1128
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1174..1188
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 842
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 848
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 904
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 906
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1372
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1372
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1378
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1427
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1427
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1429
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1429
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1435
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT VARIANT 1110
FT /note="D -> E (in dbSNP:rs7012186)"
FT /id="VAR_039558"
FT CONFLICT 519
FT /note="H -> Y (in Ref. 1; BAE53435)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1857 AA; 209308 MW; 9A86F3E7E924B16B CRC64;
MFGLKVKKKR NKAEKGLILA NKAAKDSQGD TEALQEEPSH QEGPRGDLVH DDASIFPVPS
ASPKRRSKLL TKIHDGEVRS QNYQIAITIT EARQLVGENI DPVVTIEIGD EKKQSTVKEG
TNSPFYNEYF VFDFIGPQVH LFDKIIKISV FHHKLIGSVL IGSFKVDLGT VYNQPGHQFC
NKWALLTDPG DIRTGTKGYL KCDISVMGKG DVLKTSPKTS DTEEPIEKNL LIPNGFPLER
PWARFYVRLY KAEGLPKMNS SIMANVTKAF VGDSKDLVDP FVEVSFAGQM GRTTVQKNCA
DPVWHEQVIF KEMFPPLCRR VKIQVWDEGS MNDVALATHF IDLKKISNEQ DGDKGFLPTF
GPAWINLYGS PRNHSLMDDY QEMNEGFGEG VSFRGRILVE IAVEILSGRA QESKFSKALK
ELKLPSKDKD SKSSKGKDKA DKTEDGKSQQ ASNKTNSTEV EVESFDVPPE IVPEKNEEFL
LFGAFFEATM IDRKIGDKPI SFEVSIGNFG NLIDGGSHHG SKKSAESAEE DLLPLLHEGQ
GDVAHDVPIP MASTTHPEKP LVTEGNRNYN YLPFEAKKPC VYFISSWGDQ TFRLHWSNML
EKMADFLEES IEEVRELIKI SQEAPEEKMK TVLSDFISRS SAFISEAEKK PKMLNQTTLD
KKRLTLCWQE LEAMCKEAKG IIQQQKKKLS VDEMIHEAQN FVEKIRFLVD EPQHTIPDVF
IWMLSNNRRV AYARIASKDL LYSPVAGQMG KHCGKIKTHF LKPPGKRPAG WSVQAKVDVY
LWLGSIKHAS AILDNLPVGY EAEMSSKGAG TNHPPSNLLY QEQHVFQLRA HMYQARGLIA
ADSNGLSDPF AKVTFLSHCQ TTKIISQTLS PTWNQMLLFN DLVLHGDVKE LAESPPLVVV
ELYDSDAVGK PEYLGATVAA PVVKLADQDY EPPRLCYHPI FCGNLSGGDL LAVFELLQVP
PSGLQGLPPV EPPDITQIYP VPANIRPVLS KYRVEVLFWG VREMKKVQLL SVDRPQALIE
CGGQGVKSCV IQSYKNNPNF SIQADAFEVE LPENELLHPP LSICVVDWRA FGRSTLVGTY
TINYLKQFLC KLREPLAPIT QVDGTQPGHD ISDSLTATES SGAHSSSQDP PADHIYVDVE
PPPTVVPDSA QAQPAILVDV PDSSPMLEPE HTPVAQEPPK DGKPKDPRKP SRRSTKRRKR
TIADESAENV IDWWSKYYAS LKKAQKAKER NPKGKKGNTE AKPDEVVVDI EDGPKKKKDK
MLKKKPKDDG IPNLAILQIY DGDLESEFNN FEDWVKTFEL FRGKSTEDDH GLDGDRVIGK
FKGSFCIYKS PQDSSSEDSG QLRIQQGIPP NHPVTVLIRV YIVAAFNLSP ADPDGKSDPY
IVIKLGKTEI KDRDKYIPKQ LNPVFGRSFE IQATFPKESL LSILIYDHDM IGTDDLIGET
KIDLENRFYS KHRAICGLQS QYEIEGYNAW RDTSKPTEIL TKLCKDNKLD GPYFHPGKIQ
IGNQVFSGKT IFTEEDTDET VESYEHLALK VLHSWEDIPE VGCRLVPEHI ETRPLYHKDK
PGMEQGRLQM WVDMFPKDMP QPGPPVDISP RRPKGYELRV TIWNTEDVIL EDENIFTGQK
SSDIYVKGWL KGLEDDKQET DVHYNSLTGE GNFNWRFLFP FQYLPAEKQM VITKRENIFS
LEKMECKTPA VLVLQVWDFE RLSSDDFLGT LEMNLNSFPR AAKSAKACDL AKFENASEET
KISIFQQKRV RGWWPFSKSK ELTGKVEAEF HLVTAEEAEK NPVGKARKEP EPLAKPNRPD
TSFSWFMSPF KCLYYLIWKN YKKYIIIAFI LIILIIFLVL FIYTLPGAIS RRIVVGS
