A0AVI2 (FR1L5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fer-1-like protein 5

Gene names

Name:

FER1L5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2093 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane protein Potential.
Sequence similarities	Belongs to the ferlin family. Contains 6 C2 domains.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2093	2093	Fer-1-like protein 5		PRO_0000300498
Regions
	Transmembrane	1998 – 2018	21	Helical; Potential
	Domain	1 – 83	83	C2 1
	Domain	154 – 292	139	C2 2
	Domain	295 – 391	97	C2 3
	Domain	1090 – 1195	106	C2 4
	Domain	1500 – 1598	99	C2 5
	Domain	1744 – 1872	129	C2 6
Natural variations
	Alternative sequence	1 – 1282	1282	Missing in isoform 2.		VSP_031852
	Alternative sequence	1 – 70	70	Missing in isoform 3.		VSP_031853
	Alternative sequence	71 – 76	6	GSQKKE → MIPCGM in isoform 3.		VSP_031854
	Alternative sequence	212 – 213	2	IF → VG in isoform 3.		VSP_031855
	Alternative sequence	214 – 2093	1880	Missing in isoform 3.		VSP_031856
	Alternative sequence	1747 – 1755	9	Missing in isoform 2.		VSP_031857
	Natural variant	337	1	I → T. Corresponds to variant rs4907201 [ dbSNP | Ensembl ].		VAR_059285
	Natural variant	682	1	T → A. Corresponds to variant rs7599598 [ dbSNP | Ensembl ].		VAR_059286
Experimental info
	Sequence conflict	1325	1	Missing in AAI17325. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 26, 2008. Version 2. Checksum: EE90B3242E109882	FASTA	2,093	241,963
	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
	Isoform 2 [UniParc]. Checksum: 328133209236184F	FASTA	802	93,407
	10 20 30 40 50 60 MKKASSPQLL VEFGEESLRT EPIRDFQTNP NFPESESVLV LTVLMPTEEA YALPLVVKVV 70 80 90 100 110 120 DNWAFGQQTV TGQANIDFLQ PYFCDPWAQD YMHPKLPTLS EKKHQDFLGY LYRKFWFKSS 130 140 150 160 170 180 KAEDEYEHEV DWWSKLFWAT DEHKSLKYKY KDYHTLKVYE CELEAVPAFQ GLQDFCQTFK 190 200 210 220 230 240 LYQEQPKLDS PVVGEFKGLF RIYPFPENPE APKPPLQFLV WPEREDFPQP CLVRVYMVRA 250 260 270 280 290 300 INLQPQDYNG LCDPYVILKL GKTELGNRDM YQPNTLDPIF GMMFELTCNI PLEKDLEIQL 310 320 330 340 350 360 YDFDLFSPDD KIGTTVIDLE NRLLSGFGAH CGLSKSYCQS GPFRWRDQMP PSYLLERYAK 370 380 390 400 410 420 RKGLPPPLFS PEEDAVFYNG KKFKLQSFEP KTPTVHGLGP KKERLALYLL HTQGLVPEHV 430 440 450 460 470 480 ETRTLYSHSQ PGIDQGKVQM WVDIFPKKLG PPGPQVNINP RKPKRYELRC IIWKTANVDL 490 500 510 520 530 540 VDDNLSREKT SDIYIKGWLY GLEKDMQKTD IHYHSLTGEA DFNWRFIFTM DYLAAERTCV 550 560 570 580 590 600 QSQKDYIWSL DATSMKFPAR LIIQVWDNDI FSPDDFLGVL ELDLSDMPLP ARHAKQCSIR 610 620 630 640 650 660 MMDADPKWPY FIQYKHFSLF KKKTVTGWWP CQVLDGGKWR LSGKVKMSLE ILSEKEALIK 670 680 690 700 710 720 PAGRGQSEPN QYPTLHPPLR TNTSFTWLRS PVQNFCYIFW KRYRFKLIAF MVISIIALML 730 740 750 760 770 780 FNFIYSAPHY LAMSWIKPQL QLYPPIKIFN IINSLNTSNA SSSILPTQDP NLKPTIDHEW 790 800 KLHPGPTNHL SDIFPELPAP GD
	Isoform 3 [UniParc]. Checksum: A7C81298E5DE9787	FASTA	143	15,783
	10 20 30 40 50 60 MIPCGMRFIG LATVLLKPLL KQPSEVLFVK DLTLLNHSMK PTDCTVTLQV AHMSNQDIEK 70 80 90 100 110 120 TGAEDHLGIT AREAASQKLM VPGSTAHRAL SSKPQHFQVR VKVFEARQLM GNNIKPVVKV 130 140 SIAGQQHQTR IKMGNNPFFN EVG

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. , 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).

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.
IPI	IPI00738284. IPI00883989. IPI00941524.
RefSeq	NP_001106853.1. NM_001113382.1.
UniGene	Hs.534025.
3D structure databases
ProteinModelPortal	A0AVI2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000410634.
PTM databases
PhosphoSite	A0AVI2.
Proteomic databases
PaxDb	A0AVI2.
PRIDE	A0AVI2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	90342.
KEGG	hsa:90342.
UCSC	uc002swr.2. human. uc002sws.4. human. uc010fia.3. human.
Organism-specific databases
CTD	90342.
GeneCards	GC02P097308.
HGNC	HGNC:19044. FER1L5.
neXtProt	NX_A0AVI2.
PharmGKB	PA142671764.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG263742.
HOGENOM	HOG000006771.
HOVERGEN	HBG018972.
InParanoid	A0AVI2.
OrthoDB	EOG4N8R3V.
Gene expression databases
CleanEx	HS_FER1L5.
Genevestigator	A0AVI2.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR012968. FerIin-domain. IPR012560. Ferlin_A-domain. IPR012561. Ferlin_B-domain. IPR006614. Peroxin/Ferlin. [Graphical view]
Pfam	PF00168. C2. 7 hits. PF08165. FerA. 1 hit. PF08150. FerB. 1 hit. PF08151. FerI. 1 hit. [Graphical view]
SMART	SM00239. C2. 6 hits. SM00694. DysFC. 2 hits. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 7 hits.
PROSITE	PS50004. C2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	90342.
NextBio	76687.

Entry information

Entry name

FR1L5_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 58 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.