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A0AVI2

- FR1L5_HUMAN

UniProt

A0AVI2 - FR1L5_HUMAN

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
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 2 (26 Feb 2008)
      Previous versions | rss
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    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-SubCell

    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, 309-401, 774-835, 843-946, 967-1002, 1271-1364, 1514-1606.
    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

    MLRLVVQSAK IDPPLAPLPR PCMSIDFRDI KKRTRVVEGN DPVWNETLIW     50
    HLWNRPLEND SFLQVTLQDM GSQKKERFIG LATVLLKPLL KQPSEVLFVK 100
    DLTLLNHSMK PTDCTVTLQV AHMSNQDIEK TGAEDHLGIT AREAASQKLM 150
    VPGSTAHRAL SSKPQHFQVR VKVFEARQLM GNNIKPVVKV SIAGQQHQTR 200
    IKMGNNPFFN EIFFQNFHEV PAKFFDETIL IQTDIGFIYH SPGHTLLRKW 250
    LGLCQPNNPG SGVTGYLKVT IYALGVGDQA LIDQKLLYGT DDTDIQIFKS 300
    AVVPINMAYL QLFIYCAEDL HLKKHQSVNP QLEVELIGEK LRTHMQTQTD 350
    NPIWNQILTF RIQLPCLSSY IKFRVLDCRK KDCPDEIGTA SLSLNQISST 400
    GEEIEGKQSL EPTSYTPRVY SGFLPCFGPS FLTLHGGKKA PFRIQEEGAC 450
    IPDSVRDGLA YRGRVFLELI TQIKSYQDST IKDLSHEVTR IEKHQNRQKY 500
    GLCVIFLSCT MMPNFKELIH FEVSIGHYGN KMDLNYKPLV SSTPYSPVIY 550
    DGNIYHYVPW YNTKPVVAVT SNWEDVSFRM NCLNLLHFTR DRLKANLDTL 600
    KSTRNPKDPA LLYQWEKLLR ELAEDCKRPL PCMTYQPKAT SLDRKRWQLR 650
    SLLLQELAQK AKQAKPKDMV ATAEDWLYRL NTVLPEPQMG LPDVMIWLVA 700
    KEQRVAYAQV PAHSVLFSPA GALHSGRLCG KIQTLFLQYP EGEGQKDVLP 750
    AHLRVCMWLG NVTDSKDLQL LRQGDTAVYA EMYENQAKYK DQWGQQGLYH 800
    CPNFSDVMGN KTLPMTDFQP PLGWHWQDSW TVEPQRRLLL DIDINKSQVL 850
    EEVYENQGRD TRGAWGPAAI PNTDVNGQPM EARENVKCPQ GWHFKKDWVV 900
    ELNHAVDSWE YGVGIPPSGL PQVWSPVEKT YHSCRRRRWA RVRFRNHGEL 950
    SHEQETLSFL QLGLAKGEEE GWEYDTFGSK FHLNPQPQSR FRRRCWRRRL 1000
    APNKDKGIAP IFLLEGSLAC EGGSVREEGD WAWARGNRSS TQEPQGRLSW 1050
    VQAMDLKYHA GKEEDSKTWP WGLDRQFRDP QRQDTRPPNL PFIYCTFNKP 1100
    HYYQLFCYIY QARNLVSNQI LTFQGPFIRV VFLNHSQCTQ TLRSSAGPTW 1150
    AQTLIFQHLL LYENPQDTKE SPPLVVLELW QRDFWGKESL WGRSVWPPMV 1200
    WLDLQDRILP PMRWHPLVKE LGKEEGEILA SCELILQTEK LGEKQLPILS 1250
    VPWKNGAYTL PKSIQPTIKR MAIEILAWGL RNMKKASSPQ LLVEFGEESL 1300
    RTEPIRDFQT NPNFPESESV LVLTVLMPTE EAYALPLVVK VVDNWAFGQQ 1350
    TVTGQANIDF LQPYFCDPWA QDYMHPKLPT LSEKKHQDFL GYLYRKFWFK 1400
    SSKAEDEYEH EVDWWSKLFW ATDEHKSLKY KYKDYHTLKV YECELEAVPA 1450
    FQGLQDFCQT FKLYQEQPKL DSPVVGEFKG LFRIYPFPEN PEAPKPPLQF 1500
    LVWPEREDFP QPCLVRVYMV RAINLQPQDY NGLCDPYVIL KLGKTELGNR 1550
    DMYQPNTLDP IFGMMFELTC NIPLEKDLEI QLYDFDLFSP DDKIGTTVID 1600
    LENRLLSGFG AHCGLSKSYC QSGPFRWRDQ MPPSYLLERY AKRKGLPPPL 1650
    FSPEEDAVFY NGKKFKLQSF EPKTPTVHGL GPKKERLALY LLHTQGLVPE 1700
    HVETRTLYSH SQPGIDQGKV QMWVDIFPKK LGPPGPQVNI NPRKPKRKAS 1750
    EHSGHRYELR CIIWKTANVD LVDDNLSREK TSDIYIKGWL YGLEKDMQKT 1800
    DIHYHSLTGE ADFNWRFIFT MDYLAAERTC VQSQKDYIWS LDATSMKFPA 1850
    RLIIQVWDND IFSPDDFLGV LELDLSDMPL PARHAKQCSI RMMDADPKWP 1900
    YFIQYKHFSL FKKKTVTGWW PCQVLDGGKW RLSGKVKMSL EILSEKEALI 1950
    KPAGRGQSEP NQYPTLHPPL RTNTSFTWLR SPVQNFCYIF WKRYRFKLIA 2000
    FMVISIIALM LFNFIYSAPH YLAMSWIKPQ LQLYPPIKIF NIINSLNTSN 2050
    ASSSILPTQD PNLKPTIDHE WKLHPGPTNH LSDIFPELPA PGD 2093
    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.
    UniGeneiHs.534025.

    Genome annotation databases

    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 .
    UniGenei Hs.534025.

    3D structure databases

    ProteinModelPortali A0AVI2.
    SMRi A0AVI2. Positions 21-122, 169-218, 309-401, 774-835, 843-946, 967-1002, 1271-1364, 1514-1606.
    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

    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 1, 2014
    This is version 72 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