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Protein

Fer-1-like protein 5

Gene

FER1L5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation.By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Fer-1-like protein 5
Gene namesi
Name:FER1L5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

EuPathDBiHostDB:ENSG00000249715.9.
HGNCiHGNC:19044. FER1L5.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1962 – 1982HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000249715.
PharmGKBiPA142671764.

Polymorphism and mutation databases

BioMutaiFER1L5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003004981 – 2057Fer-1-like protein 5Add BLAST2057

Proteomic databases

EPDiA0AVI2.
PeptideAtlasiA0A096LNV2.
PRIDEiA0AVI2.

PTM databases

iPTMnetiA0AVI2.
PhosphoSitePlusiA0AVI2.

Expressioni

Gene expression databases

BgeeiENSG00000249715.
CleanExiHS_FER1L5.
GenevisibleiA0AVI2. HS.

Interactioni

Subunit structurei

Interacts (via second C2 domain) with EHD1 and EHD2.By similarity

Structurei

3D structure databases

ProteinModelPortaliA0AVI2.
SMRiA0AVI2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 83C2 1PROSITE-ProRule annotationAdd BLAST83
Domaini168 – 249C2 2PROSITE-ProRule annotationAdd BLAST82
Domaini327 – 408C2 3PROSITE-ProRule annotationAdd BLAST82
Domaini1063 – 1168C2 4PROSITE-ProRule annotationAdd BLAST106
Domaini1488 – 1571C2 5PROSITE-ProRule annotationAdd BLAST84
Domaini1706 – 1836C2 6PROSITE-ProRule annotationAdd BLAST131

Sequence similaritiesi

Belongs to the ferlin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00550000074414.
HOGENOMiHOG000006771.
HOVERGENiHBG018972.
InParanoidiA0AVI2.
PhylomeDBiA0AVI2.

Family and domain databases

Gene3Di2.60.40.150. 7 hits.
InterProiView protein in InterPro
IPR000008. C2_dom.
IPR035892. C2_domain_sf.
IPR029997. Fer1L5.
IPR012968. FerIin_dom.
IPR012560. Ferlin_A-domain.
IPR012561. Ferlin_B-domain.
IPR032362. Ferlin_C.
IPR006614. Peroxin/Ferlin.
PANTHERiPTHR12546:SF34. PTHR12546:SF34. 1 hit.
PfamiView protein in Pfam
PF00168. C2. 7 hits.
PF08165. FerA. 1 hit.
PF08150. FerB. 1 hit.
PF16165. Ferlin_C. 1 hit.
SMARTiView protein in SMART
SM00239. C2. 6 hits.
SM00694. DysFC. 2 hits.
SM00693. DysFN. 2 hits.
SM01200. FerA. 1 hit.
SM01201. FerB. 1 hit.
SM01202. FerI. 1 hit.
SUPFAMiSSF49562. SSF49562. 7 hits.
PROSITEiView protein in PROSITE
PS50004. C2. 4 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A0AVI2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLRLVVQSAK IDPPLAPLPR PCMSIDFRDI KKRTRVVEGN DPVWNETLIW
60 70 80 90 100
HLWNRPLEND SFLQVTLQDM GSQKKERFIG LATVLLKPLL KQPSEVLFVK
110 120 130 140 150
DLTLLNHSMK PTDCTVTLQV AHMSNQDIEK TGAEDHLGIT AREAASQKLM
160 170 180 190 200
VPGSTAHRAL SSKPQHFQVR VKVFEARQLM GNNIKPVVKV SIAGQQHQTR
210 220 230 240 250
IKMGNNPFFN EIFFQNFHEV PAKFFDETIL IQVVNSSAMR YKAEIGRFQT
260 270 280 290 300
DIGFIYHSPG HTLLRKWLGL CQPNNPGSGV TGYLKVTIYA LGVGDQALID
310 320 330 340 350
QKLLYGTDDT DIQIFKSAVV PINMAYLQLF IYCAEDLHLK KHQSVNPQLE
360 370 380 390 400
VELIGEKLRT HMQTQTDNPI WNQILTFRIQ LPCLSSYIKF RVLDCRKKDC
410 420 430 440 450
PDEIGTASLS LNQISSTGEE IEGVYSGFLP CFGPSFLTLH GGKKAPFRIQ
460 470 480 490 500
EEGACIPDSV RDGLAYRGRV FLELITQIKS YQDSTIKDLS HEVTRIEKHQ
510 520 530 540 550
NRQKYGLCVI FLSCTMMPNF KELIHFEVSI GHYGNKMDLN YKPLVSSTPY
560 570 580 590 600
SPVIYDGNIY HYVPWYNTKP VVAVTSNWED VSFRMNCLNL LHFTRDRLKA
610 620 630 640 650
NLDTLKSTRN PKDPALLYQW EKLLRELAED CKRPLPCMTY QPKATSLDRK
660 670 680 690 700
RWQLRSLLLQ ELAQKAKQAK PKDMVATAED WLYRLNTVLP EPQMGLPDVM
710 720 730 740 750
IWLVAKEQRV AYAQVPAHSV LFSPAGALHS GRLCGKIQTL FLQYPEGEGQ
760 770 780 790 800
KDVLPAHLRV CMWLGNVTDS KDLQLLRQGD TAVYAEMYEN QAKYKDQWGQ
810 820 830 840 850
QGLYHCPNFS DVMGNKTLPM TDFQPPLGWH WQDSWTVEPQ RRLLLDIDIN
860 870 880 890 900
KSQVLEEVYE NQGRDTRGAW GPAAIPNTDV NGQPMEAREN VKCPQGWHFK
910 920 930 940 950
KDWVVELNHA VDSKGWEYGV GIPPSGLPQV WSPVEKTYHS CRRRRWARVR
960 970 980 990 1000
FRNHGELSHE QETLSFLQLG LAKGEEEGWE YDTFGSKFHL NPQPQSRFRR
1010 1020 1030 1040 1050
RCWRRRLAPN KDKGIAPIFL LEGSLAMDLK YHAGKEEDSK TWPWGLDRQF
1060 1070 1080 1090 1100
RDPQRQDTRP PNLPFIYCTF NKPHYYQLFC YIYQARNLVS NQILTFQGPF
1110 1120 1130 1140 1150
IRVVFLNHSQ CTQTLRSSAG PTWAQTLIFQ HLLLYENPQD TKESPPLVVL
1160 1170 1180 1190 1200
ELWQRDFWGK ESLWGRSVWP PMVWLDLQDR ILPPMRWHPL VKELGKEEGE
1210 1220 1230 1240 1250
ILASCELILQ TEKLGEKQLP ILSVPWKNGA YTLPKSIQPT IKRMAIEILA
1260 1270 1280 1290 1300
WGLRNMKKAS SPQLLVEFGE ESLRTEPIRD FQTNPNFPES ESVLVLTVLM
1310 1320 1330 1340 1350
PTEEAYALPL VVKVVDNWAF GQQTVTGQAN IDFLQPYFCD PWAQDYMHPK
1360 1370 1380 1390 1400
LPTLSEKKHQ DFLGYLYRKF WFKSSKAEDE YEHEVDWWSK LFWATDEHKS
1410 1420 1430 1440 1450
LKYKYKDYHT LKVYECELEA VPAFQGLQDF CQTFKLYQEQ PKLDSPVVGE
1460 1470 1480 1490 1500
FKGLFRIYPF PENPEAPKPP LQFLVWPERE DFPQPCLVRV YMVRAINLQP
1510 1520 1530 1540 1550
QDYNGLCDPY VILKLGKTEL GNRDMYQPNT LDPIFGMMFE LTCNIPLEKD
1560 1570 1580 1590 1600
LEIQLYDFDL FSPDDKIGTT VIDLENRLLS GFGAHCGLSK SYCQSGPFRW
1610 1620 1630 1640 1650
RDQMPPSYLL ERYAKRKGLP PPLFSPEEDA VFYNGKKFKL QSFEPKTPTV
1660 1670 1680 1690 1700
HGLGPKKERL ALYLLHTQGL VPEHVETRTL YSHSQPGIDQ GKVQMWVDIF
1710 1720 1730 1740 1750
PKKLGPPGPQ VNINPRKPKR YELRCIIWKT ANVDLVDDNL SREKTSDIYI
1760 1770 1780 1790 1800
KGWLYGLEKD MQKTDIHYHS LTGEADFNWR FIFTMDYLAA ERTCVQSQKD
1810 1820 1830 1840 1850
YIWSLDATSM KFPARLIIQV WDNDIFSPDD FLGVLELDLS DMPLPARHAK
1860 1870 1880 1890 1900
QCSIRMMDAD PKWPYFIQYK HFSLFKKKTV TGWWPCQVLD GGKWRLSGKV
1910 1920 1930 1940 1950
KMSLEILSEK EALIKPAGRG QSEPNQYPTL HPPLRTNTSF TWLRSPVQNF
1960 1970 1980 1990 2000
CYIFWKRYRF KLIAFMVISI IALMLFNFIY SAPHYLAMSW IKPQLQLYPP
2010 2020 2030 2040 2050
IKIFNIINSL NTSNASSSIL PTQDPNLKPT IDHEWKLHPG PTNHLSDIFP

ELPAPGD
Note: Gene prediction based on partial mRNA data.Curated
Length:2,057
Mass (Da):237,935
Last modified:September 27, 2017 - v3
Checksum:iE48E0652AD6CE253
GO
Isoform 2 (identifier: A0AVI2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1255: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:802
Mass (Da):93,407
Checksum:i328133209236184F
GO
Isoform 3 (identifier: A0AVI2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1255: Missing.
     1298-1298: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:801
Mass (Da):93,307
Checksum:i6A620DA086DFD2F9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059285354I → T. Corresponds to variant dbSNP:rs4907201Ensembl.1
Natural variantiVAR_059286687T → A. Corresponds to variant dbSNP:rs7599598Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0318521 – 1255Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST1255
Alternative sequenceiVSP_0590711298Missing in isoform 3. 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC068539 Genomic DNA. No translation available.
AC079754 Genomic DNA. No translation available.
BC117324 mRNA. Translation: AAI17325.1.
BC126368 mRNA. Translation: AAI26369.1.
AK126032 mRNA. Translation: BAC86403.1.
RefSeqiNP_001280012.1. NM_001293083.1.
UniGeneiHs.534025.

Genome annotation databases

EnsembliENST00000624922; ENSP00000485238; ENSG00000249715. [A0AVI2-1]
GeneIDi90342.
KEGGihsa:90342.
UCSCiuc010fia.3. human. [A0AVI2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFR1L5_HUMAN
AccessioniPrimary (citable) accession number: A0AVI2
Secondary accession number(s): A0A096LNV2, Q17RH2, Q6ZU24
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 27, 2017
Last modified: October 25, 2017
This is version 99 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families