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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1998 – 201821Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-SubCell
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 5
PRO_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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the ferlin family.
Contains 6 C2 domains.

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

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.
VSP_031852Add
BLAST
Alternative sequencei1 – 7070Missing in isoform 3.
VSP_031853Add
BLAST
Alternative sequencei71 – 766GSQKKE → MIPCGM in isoform 3.
VSP_031854
Alternative sequencei212 – 2132IF → VG in isoform 3.
VSP_031855
Alternative sequencei214 – 20931880Missing in isoform 3.
VSP_031856Add
BLAST
Alternative sequencei1747 – 17559Missing in isoform 2.
VSP_031857

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1325 – 13251Missing in AAI17325. 1 Publication

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...

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: September 3, 2014
This is version 71 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

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