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A0AVI2

- FR1L5_HUMAN

UniProt

A0AVI2 - FR1L5_HUMAN

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Protein

Fer-1-like protein 5

Gene

FER1L5

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Names & Taxonomyi

Protein namesi
Recommended name:
Fer-1-like protein 5
Gene namesi
Name:FER1L5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:19044. FER1L5.

Subcellular locationi

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

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671764.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 20932093Fer-1-like protein 5PRO_0000300498Add
BLAST

Proteomic databases

PaxDbiA0AVI2.
PRIDEiA0AVI2.

PTM databases

PhosphoSiteiA0AVI2.

Expressioni

Gene expression databases

CleanExiHS_FER1L5.
GenevestigatoriA0AVI2.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000410634.

Structurei

3D structure databases

ProteinModelPortaliA0AVI2.
SMRiA0AVI2. Positions 21-122, 169-218, 308-398, 850-933, 1513-1603.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1998 – 201821HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 8383C2 1PROSITE-ProRule annotationAdd
BLAST
Domaini154 – 292139C2 2PROSITE-ProRule annotationAdd
BLAST
Domaini295 – 39197C2 3PROSITE-ProRule annotationAdd
BLAST
Domaini1090 – 1195106C2 4PROSITE-ProRule annotationAdd
BLAST
Domaini1500 – 159899C2 5PROSITE-ProRule annotationAdd
BLAST
Domaini1744 – 1872129C2 6PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the ferlin family.Curated
Contains 6 C2 domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG263742.
HOGENOMiHOG000006771.
HOVERGENiHBG018972.
InParanoidiA0AVI2.
PhylomeDBiA0AVI2.

Family and domain databases

Gene3Di2.60.40.150. 8 hits.
InterProiIPR000008. C2_dom.
IPR012968. FerIin-domain.
IPR012560. Ferlin_A-domain.
IPR012561. Ferlin_B-domain.
IPR006614. Peroxin/Ferlin.
[Graphical view]
PfamiPF00168. C2. 7 hits.
PF08165. FerA. 1 hit.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 6 hits.
SM00694. DysFC. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 8 hits.
PROSITEiPS50004. C2. 4 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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 IQTDIGFIYH SPGHTLLRKW
260 270 280 290 300
LGLCQPNNPG SGVTGYLKVT IYALGVGDQA LIDQKLLYGT DDTDIQIFKS
310 320 330 340 350
AVVPINMAYL QLFIYCAEDL HLKKHQSVNP QLEVELIGEK LRTHMQTQTD
360 370 380 390 400
NPIWNQILTF RIQLPCLSSY IKFRVLDCRK KDCPDEIGTA SLSLNQISST
410 420 430 440 450
GEEIEGKQSL EPTSYTPRVY SGFLPCFGPS FLTLHGGKKA PFRIQEEGAC
460 470 480 490 500
IPDSVRDGLA YRGRVFLELI TQIKSYQDST IKDLSHEVTR IEKHQNRQKY
510 520 530 540 550
GLCVIFLSCT MMPNFKELIH FEVSIGHYGN KMDLNYKPLV SSTPYSPVIY
560 570 580 590 600
DGNIYHYVPW YNTKPVVAVT SNWEDVSFRM NCLNLLHFTR DRLKANLDTL
610 620 630 640 650
KSTRNPKDPA LLYQWEKLLR ELAEDCKRPL PCMTYQPKAT SLDRKRWQLR
660 670 680 690 700
SLLLQELAQK AKQAKPKDMV ATAEDWLYRL NTVLPEPQMG LPDVMIWLVA
710 720 730 740 750
KEQRVAYAQV PAHSVLFSPA GALHSGRLCG KIQTLFLQYP EGEGQKDVLP
760 770 780 790 800
AHLRVCMWLG NVTDSKDLQL LRQGDTAVYA EMYENQAKYK DQWGQQGLYH
810 820 830 840 850
CPNFSDVMGN KTLPMTDFQP PLGWHWQDSW TVEPQRRLLL DIDINKSQVL
860 870 880 890 900
EEVYENQGRD TRGAWGPAAI PNTDVNGQPM EARENVKCPQ GWHFKKDWVV
910 920 930 940 950
ELNHAVDSWE YGVGIPPSGL PQVWSPVEKT YHSCRRRRWA RVRFRNHGEL
960 970 980 990 1000
SHEQETLSFL QLGLAKGEEE GWEYDTFGSK FHLNPQPQSR FRRRCWRRRL
1010 1020 1030 1040 1050
APNKDKGIAP IFLLEGSLAC EGGSVREEGD WAWARGNRSS TQEPQGRLSW
1060 1070 1080 1090 1100
VQAMDLKYHA GKEEDSKTWP WGLDRQFRDP QRQDTRPPNL PFIYCTFNKP
1110 1120 1130 1140 1150
HYYQLFCYIY QARNLVSNQI LTFQGPFIRV VFLNHSQCTQ TLRSSAGPTW
1160 1170 1180 1190 1200
AQTLIFQHLL LYENPQDTKE SPPLVVLELW QRDFWGKESL WGRSVWPPMV
1210 1220 1230 1240 1250
WLDLQDRILP PMRWHPLVKE LGKEEGEILA SCELILQTEK LGEKQLPILS
1260 1270 1280 1290 1300
VPWKNGAYTL PKSIQPTIKR MAIEILAWGL RNMKKASSPQ LLVEFGEESL
1310 1320 1330 1340 1350
RTEPIRDFQT NPNFPESESV LVLTVLMPTE EAYALPLVVK VVDNWAFGQQ
1360 1370 1380 1390 1400
TVTGQANIDF LQPYFCDPWA QDYMHPKLPT LSEKKHQDFL GYLYRKFWFK
1410 1420 1430 1440 1450
SSKAEDEYEH EVDWWSKLFW ATDEHKSLKY KYKDYHTLKV YECELEAVPA
1460 1470 1480 1490 1500
FQGLQDFCQT FKLYQEQPKL DSPVVGEFKG LFRIYPFPEN PEAPKPPLQF
1510 1520 1530 1540 1550
LVWPEREDFP QPCLVRVYMV RAINLQPQDY NGLCDPYVIL KLGKTELGNR
1560 1570 1580 1590 1600
DMYQPNTLDP IFGMMFELTC NIPLEKDLEI QLYDFDLFSP DDKIGTTVID
1610 1620 1630 1640 1650
LENRLLSGFG AHCGLSKSYC QSGPFRWRDQ MPPSYLLERY AKRKGLPPPL
1660 1670 1680 1690 1700
FSPEEDAVFY NGKKFKLQSF EPKTPTVHGL GPKKERLALY LLHTQGLVPE
1710 1720 1730 1740 1750
HVETRTLYSH SQPGIDQGKV QMWVDIFPKK LGPPGPQVNI NPRKPKRKAS
1760 1770 1780 1790 1800
EHSGHRYELR CIIWKTANVD LVDDNLSREK TSDIYIKGWL YGLEKDMQKT
1810 1820 1830 1840 1850
DIHYHSLTGE ADFNWRFIFT MDYLAAERTC VQSQKDYIWS LDATSMKFPA
1860 1870 1880 1890 1900
RLIIQVWDND IFSPDDFLGV LELDLSDMPL PARHAKQCSI RMMDADPKWP
1910 1920 1930 1940 1950
YFIQYKHFSL FKKKTVTGWW PCQVLDGGKW RLSGKVKMSL EILSEKEALI
1960 1970 1980 1990 2000
KPAGRGQSEP NQYPTLHPPL RTNTSFTWLR SPVQNFCYIF WKRYRFKLIA
2010 2020 2030 2040 2050
FMVISIIALM LFNFIYSAPH YLAMSWIKPQ LQLYPPIKIF NIINSLNTSN
2060 2070 2080 2090
ASSSILPTQD PNLKPTIDHE WKLHPGPTNH LSDIFPELPA PGD
Length:2,093
Mass (Da):241,963
Last modified:February 26, 2008 - v2
Checksum:iEE90B3242E109882
GO
Isoform 2 (identifier: A0AVI2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1282: Missing.
     1747-1755: Missing.

Show »
Length:802
Mass (Da):93,407
Checksum:i328133209236184F
GO
Isoform 3 (identifier: A0AVI2-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:143
Mass (Da):15,783
Checksum:iA7C81298E5DE9787
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1325 – 13251Missing in AAI17325. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti337 – 3371I → T.
Corresponds to variant rs4907201 [ dbSNP | Ensembl ].
VAR_059285
Natural varianti682 – 6821T → A.
Corresponds to variant rs7599598 [ dbSNP | Ensembl ].
VAR_059286

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 12821282Missing in isoform 2. 1 PublicationVSP_031852Add
BLAST
Alternative sequencei1 – 7070Missing in isoform 3. 1 PublicationVSP_031853Add
BLAST
Alternative sequencei71 – 766GSQKKE → MIPCGM in isoform 3. 1 PublicationVSP_031854
Alternative sequencei212 – 2132IF → VG in isoform 3. 1 PublicationVSP_031855
Alternative sequencei214 – 20931880Missing in isoform 3. 1 PublicationVSP_031856Add
BLAST
Alternative sequencei1747 – 17559Missing in isoform 2. 1 PublicationVSP_031857

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
RefSeqiNP_001280012.1. NM_001293083.1.
UniGeneiHs.534025.

Genome annotation databases

GeneIDi90342.
KEGGihsa:90342.
UCSCiuc002swr.2. human. [A0AVI2-3]
uc002sws.4. human. [A0AVI2-2]
uc010fia.3. human. [A0AVI2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
RefSeqi NP_001280012.1. NM_001293083.1.
UniGenei Hs.534025.

3D structure databases

ProteinModelPortali A0AVI2.
SMRi A0AVI2. Positions 21-122, 169-218, 308-398, 850-933, 1513-1603.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000410634.

PTM databases

PhosphoSitei A0AVI2.

Proteomic databases

PaxDbi A0AVI2.
PRIDEi A0AVI2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 90342.
KEGGi hsa:90342.
UCSCi uc002swr.2. human. [A0AVI2-3 ]
uc002sws.4. human. [A0AVI2-2 ]
uc010fia.3. human. [A0AVI2-1 ]

Organism-specific databases

CTDi 90342.
GeneCardsi GC02P097308.
HGNCi HGNC:19044. FER1L5.
neXtProti NX_A0AVI2.
PharmGKBi PA142671764.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG263742.
HOGENOMi HOG000006771.
HOVERGENi HBG018972.
InParanoidi A0AVI2.
PhylomeDBi A0AVI2.

Miscellaneous databases

GenomeRNAii 90342.
NextBioi 76687.
PROi A0AVI2.

Gene expression databases

CleanExi HS_FER1L5.
Genevestigatori A0AVI2.

Family and domain databases

Gene3Di 2.60.40.150. 8 hits.
InterProi IPR000008. C2_dom.
IPR012968. FerIin-domain.
IPR012560. Ferlin_A-domain.
IPR012561. Ferlin_B-domain.
IPR006614. Peroxin/Ferlin.
[Graphical view ]
Pfami PF00168. C2. 7 hits.
PF08165. FerA. 1 hit.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
[Graphical view ]
SMARTi SM00239. C2. 6 hits.
SM00694. DysFC. 2 hits.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 8 hits.
PROSITEi PS50004. C2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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.
    , 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).

Entry informationi

Entry nameiFR1L5_HUMAN
AccessioniPrimary (citable) accession number: A0AVI2
Secondary accession number(s): Q17RH2, Q6ZU24
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: February 26, 2008
Last modified: October 29, 2014
This is version 73 of the entry and version 2 of the sequence. [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

External Data

Dasty 3