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A0AVI2 (FR1L5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fer-1-like protein 5
Gene names
Name:FER1L5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2093 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Cell membrane By similarity. Membrane; Single-pass membrane protein Potential. Note: Colocalizes with EHD1 and EHD2 at plasma membrane in myoblasts and myotubes. Localizes into foci at the plasma membrane By similarity.

Sequence similarities

Belongs to the ferlin family.

Contains 6 C2 domains.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A0AVI2-1)

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.
Isoform 2 (identifier: A0AVI2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1282: Missing.
     1747-1755: Missing.
Isoform 3 (identifier: A0AVI2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.
     71-76: GSQKKE → MIPCGM
     212-213: IF → VG
     214-2093: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 20932093Fer-1-like protein 5
PRO_0000300498

Regions

Transmembrane1998 – 201821Helical; Potential
Domain1 – 8383C2 1
Domain154 – 292139C2 2
Domain295 – 39197C2 3
Domain1090 – 1195106C2 4
Domain1500 – 159899C2 5
Domain1744 – 1872129C2 6

Natural variations

Alternative sequence1 – 12821282Missing in isoform 2.
VSP_031852
Alternative sequence1 – 7070Missing in isoform 3.
VSP_031853
Alternative sequence71 – 766GSQKKE → MIPCGM in isoform 3.
VSP_031854
Alternative sequence212 – 2132IF → VG in isoform 3.
VSP_031855
Alternative sequence214 – 20931880Missing in isoform 3.
VSP_031856
Alternative sequence1747 – 17559Missing in isoform 2.
VSP_031857
Natural variant3371I → T.
Corresponds to variant rs4907201 [ dbSNP | Ensembl ].
VAR_059285
Natural variant6821T → A.
Corresponds to variant rs7599598 [ dbSNP | Ensembl ].
VAR_059286

Experimental info

Sequence conflict13251Missing in AAI17325. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 26, 2008. Version 2.
Checksum: EE90B3242E109882

FASTA2,093241,963
        10         20         30         40         50         60 
MLRLVVQSAK IDPPLAPLPR PCMSIDFRDI KKRTRVVEGN DPVWNETLIW HLWNRPLEND 

        70         80         90        100        110        120 
SFLQVTLQDM GSQKKERFIG LATVLLKPLL KQPSEVLFVK DLTLLNHSMK PTDCTVTLQV 

       130        140        150        160        170        180 
AHMSNQDIEK TGAEDHLGIT AREAASQKLM VPGSTAHRAL SSKPQHFQVR VKVFEARQLM 

       190        200        210        220        230        240 
GNNIKPVVKV SIAGQQHQTR IKMGNNPFFN EIFFQNFHEV PAKFFDETIL IQTDIGFIYH 

       250        260        270        280        290        300 
SPGHTLLRKW LGLCQPNNPG SGVTGYLKVT IYALGVGDQA LIDQKLLYGT DDTDIQIFKS 

       310        320        330        340        350        360 
AVVPINMAYL QLFIYCAEDL HLKKHQSVNP QLEVELIGEK LRTHMQTQTD NPIWNQILTF 

       370        380        390        400        410        420 
RIQLPCLSSY IKFRVLDCRK KDCPDEIGTA SLSLNQISST GEEIEGKQSL EPTSYTPRVY 

       430        440        450        460        470        480 
SGFLPCFGPS FLTLHGGKKA PFRIQEEGAC IPDSVRDGLA YRGRVFLELI TQIKSYQDST 

       490        500        510        520        530        540 
IKDLSHEVTR IEKHQNRQKY GLCVIFLSCT MMPNFKELIH FEVSIGHYGN KMDLNYKPLV 

       550        560        570        580        590        600 
SSTPYSPVIY DGNIYHYVPW YNTKPVVAVT SNWEDVSFRM NCLNLLHFTR DRLKANLDTL 

       610        620        630        640        650        660 
KSTRNPKDPA LLYQWEKLLR ELAEDCKRPL PCMTYQPKAT SLDRKRWQLR SLLLQELAQK 

       670        680        690        700        710        720 
AKQAKPKDMV ATAEDWLYRL NTVLPEPQMG LPDVMIWLVA KEQRVAYAQV PAHSVLFSPA 

       730        740        750        760        770        780 
GALHSGRLCG KIQTLFLQYP EGEGQKDVLP AHLRVCMWLG NVTDSKDLQL LRQGDTAVYA 

       790        800        810        820        830        840 
EMYENQAKYK DQWGQQGLYH CPNFSDVMGN KTLPMTDFQP PLGWHWQDSW TVEPQRRLLL 

       850        860        870        880        890        900 
DIDINKSQVL EEVYENQGRD TRGAWGPAAI PNTDVNGQPM EARENVKCPQ GWHFKKDWVV 

       910        920        930        940        950        960 
ELNHAVDSWE YGVGIPPSGL PQVWSPVEKT YHSCRRRRWA RVRFRNHGEL SHEQETLSFL 

       970        980        990       1000       1010       1020 
QLGLAKGEEE GWEYDTFGSK FHLNPQPQSR FRRRCWRRRL APNKDKGIAP IFLLEGSLAC 

      1030       1040       1050       1060       1070       1080 
EGGSVREEGD WAWARGNRSS TQEPQGRLSW VQAMDLKYHA GKEEDSKTWP WGLDRQFRDP 

      1090       1100       1110       1120       1130       1140 
QRQDTRPPNL PFIYCTFNKP HYYQLFCYIY QARNLVSNQI LTFQGPFIRV VFLNHSQCTQ 

      1150       1160       1170       1180       1190       1200 
TLRSSAGPTW AQTLIFQHLL LYENPQDTKE SPPLVVLELW QRDFWGKESL WGRSVWPPMV 

      1210       1220       1230       1240       1250       1260 
WLDLQDRILP PMRWHPLVKE LGKEEGEILA SCELILQTEK LGEKQLPILS VPWKNGAYTL 

      1270       1280       1290       1300       1310       1320 
PKSIQPTIKR MAIEILAWGL RNMKKASSPQ LLVEFGEESL RTEPIRDFQT NPNFPESESV 

      1330       1340       1350       1360       1370       1380 
LVLTVLMPTE EAYALPLVVK VVDNWAFGQQ TVTGQANIDF LQPYFCDPWA QDYMHPKLPT 

      1390       1400       1410       1420       1430       1440 
LSEKKHQDFL GYLYRKFWFK SSKAEDEYEH EVDWWSKLFW ATDEHKSLKY KYKDYHTLKV 

      1450       1460       1470       1480       1490       1500 
YECELEAVPA FQGLQDFCQT FKLYQEQPKL DSPVVGEFKG LFRIYPFPEN PEAPKPPLQF 

      1510       1520       1530       1540       1550       1560 
LVWPEREDFP QPCLVRVYMV RAINLQPQDY NGLCDPYVIL KLGKTELGNR DMYQPNTLDP 

      1570       1580       1590       1600       1610       1620 
IFGMMFELTC NIPLEKDLEI QLYDFDLFSP DDKIGTTVID LENRLLSGFG AHCGLSKSYC 

      1630       1640       1650       1660       1670       1680 
QSGPFRWRDQ MPPSYLLERY AKRKGLPPPL FSPEEDAVFY NGKKFKLQSF EPKTPTVHGL 

      1690       1700       1710       1720       1730       1740 
GPKKERLALY LLHTQGLVPE HVETRTLYSH SQPGIDQGKV QMWVDIFPKK LGPPGPQVNI 

      1750       1760       1770       1780       1790       1800 
NPRKPKRKAS EHSGHRYELR CIIWKTANVD LVDDNLSREK TSDIYIKGWL YGLEKDMQKT 

      1810       1820       1830       1840       1850       1860 
DIHYHSLTGE ADFNWRFIFT MDYLAAERTC VQSQKDYIWS LDATSMKFPA RLIIQVWDND 

      1870       1880       1890       1900       1910       1920 
IFSPDDFLGV LELDLSDMPL PARHAKQCSI RMMDADPKWP YFIQYKHFSL FKKKTVTGWW 

      1930       1940       1950       1960       1970       1980 
PCQVLDGGKW RLSGKVKMSL EILSEKEALI KPAGRGQSEP NQYPTLHPPL RTNTSFTWLR 

      1990       2000       2010       2020       2030       2040 
SPVQNFCYIF WKRYRFKLIA FMVISIIALM LFNFIYSAPH YLAMSWIKPQ LQLYPPIKIF 

      2050       2060       2070       2080       2090 
NIINSLNTSN ASSSILPTQD PNLKPTIDHE WKLHPGPTNH LSDIFPELPA PGD 

« Hide

Isoform 2 [UniParc].

Checksum: 328133209236184F
Show »

FASTA80293,407
Isoform 3 [UniParc].

Checksum: A7C81298E5DE9787
Show »

FASTA14315,783

References

[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Testis.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK126032 mRNA. Translation: BAC86403.1.
AC068539 Genomic DNA. No translation available.
AC079754 Genomic DNA. No translation available.
BC117324 mRNA. Translation: AAI17325.1.
BC126368 mRNA. Translation: AAI26369.1.
RefSeqNP_001106853.1. NM_001113382.1.
UniGeneHs.534025.

3D structure databases

ProteinModelPortalA0AVI2.
SMRA0AVI2. Positions 1-122, 164-274, 307-398, 773-834, 843-933, 1512-1630, 1756-1879.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000410634.

PTM databases

PhosphoSiteA0AVI2.

Proteomic databases

PaxDbA0AVI2.
PRIDEA0AVI2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID90342.
KEGGhsa:90342.
UCSCuc002swr.2. human. [A0AVI2-3]
uc002sws.4. human. [A0AVI2-2]
uc010fia.3. human. [A0AVI2-1]

Organism-specific databases

CTD90342.
GeneCardsGC02P097308.
HGNCHGNC:19044. FER1L5.
neXtProtNX_A0AVI2.
PharmGKBPA142671764.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG263742.
HOGENOMHOG000006771.
HOVERGENHBG018972.
InParanoidA0AVI2.
PhylomeDBA0AVI2.

Gene expression databases

CleanExHS_FER1L5.
GenevestigatorA0AVI2.

Family and domain databases

Gene3D2.60.40.150. 8 hits.
InterProIPR000008. C2_dom.
IPR012968. FerIin-domain.
IPR012560. Ferlin_A-domain.
IPR012561. Ferlin_B-domain.
IPR006614. Peroxin/Ferlin.
[Graphical view]
PfamPF00168. C2. 7 hits.
PF08165. FerA. 1 hit.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
[Graphical view]
SMARTSM00239. C2. 6 hits.
SM00694. DysFC. 2 hits.
[Graphical view]
SUPFAMSSF49562. SSF49562. 8 hits.
PROSITEPS50004. C2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi90342.
NextBio76687.
PROA0AVI2.

Entry information

Entry nameFR1L5_HUMAN
AccessionPrimary (citable) accession number: A0AVI2
Secondary accession number(s): Q17RH2, Q6ZU24
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: February 26, 2008
Last modified: April 16, 2014
This is version 68 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM